Time for a very overdue post..life has gotten so busy that I am finding it hard to find time to write. Which is very disappointing because as I have said before, it helps me. A lot.
October has ended and with it, so has "Rett Syndrome Awareness Month". We, as a family, did quite a bit to bring awareness for Rett Syndrome. I am beyond proud of all of the efforts made by my amazing family. Let me re-cap:
We attended the "Blue Sky Girls" event in Boston on October 15, 2011. This event was started in New York state and on October 15, 2011 Rett Girls and their families "climbed" various steps at various buildings in a show of support and pride at how hard our girls work, even in the face of all their struggles. The event was not only nationwide but also worldwide. It was an absolutely beautiful day. Blue skies for sure. 31 families from Massachusetts were in attendance. We were joined by our family and best friends and a dozen Rehoboth Firefighters, in full uniform. Jeff had been asked if he could get "a few" firefighters to assist in carrying those girls who could not climb the stairs themselves. He sent out the call and let me tell you, our AMAZING firefighters answered, as usual. They lined the stairs of the Harvard Medical School and as each girl and her family climbed those stairs it was a breathtaking sight. Jeff carried Bella as we walked up the stairs and between the pride I felt for him and the emotion I was feeling for Bella, well let's just say, it was quite a moment. It was the first time we had met other "Rett Angels" and I have to say as nervous as I was to do so, it was the best part of the day for me. These girls are so special and bring so much joy. Their smiles are pure sunshine. After the climb, we had a lunch where we were introduced to the Researchers from MIT who are working so hard for our cure. It was a very special day.
October also brought out everything PURPLE!! Funny that Rett Syndrome's color is purple. My family will tell you that since Bella was born I have said her favorite color was purple and that she looked so good in purple. When we had the house renovated, we even painted her room purple.. go figure.. Maybe we should have stuck with pink!! We painted our nails and toes purple in honor of Bella. It was a huge show of solidarity and I was constantly receiving pictures and posts on Facebook with my friends showing their purple toes..it meant the world to me.
On October 20, 2011 our entire family attended the Festival of Food and Wine in Boston which is, if not the leading, one of the biggest fundraisers for Rett Syndrome in the country. Over the last 10 yeasrs they have raised over 5 million dollars!!! This event almost single handedly funds the clincial trials that are taking place at Children's Hospital in Boston. These trials are testing the possible cure for Rett! When we heard about the event and found out all the ways we could get involved, in typcial fashion, my family jumped right in. The event had a silent and live auction, which is how most of the money is raised. My father in law, who has worked for years helping other charities as part of his job with the Boston Bruins organization was by far the MVP of the event. (Actually that is what they named him that night!) He worked tirelessly to get one-of-a-kind auction items and donations and succeeded in making the auction a HUGE success. We are so proud of him!!!!
In addition, we had our friends, Fred and Donna Paolucci attend and Fred donated his "Dig-it" beach umbrella as a silent auction item. One of the BEST friends a girl could have, Johnna Cutlip, raised a boat load of money in a two week span that helped donate additional items to the silent auction. While we have not received the total amount raised, I hear it was a BIG night! It was a moving, emotional and wonderful evening.
And while I am on the subject of amzaing friends..my oldest and dearest friend in the world, Bonnie Ashby has been a fundraising machine down south in Atlanta. She started with a Stella and Dot jewelry event at her home where 50% of the profits were donated to Rett and then followed that up with "Baking for Bella" which was a bake sale in the lobby of her office building where her and her colleagues baked goodies and sold them for Rett. It boggles my mind how kind people are.. how selfless..how truly giving they can be for a little girl and a family they have never met.. all things I had forgotten in this sometimes jaded world.
And then, there is the efforts of my sister in law, Heather. I wish I could describe this and truly do it justice, but I am not sure I can, but here goes.. Heather is a third grade teacher and her love for Bella has been abundant from the moment Bella was born. As much as Heather's heart has been broken by this evil thing called Rett Syndrome, she has dug in and has poured herself into raising awareness for Rett and raising money for the cure. Now, I have to give some background quickly.. Heather often uses Bella and Zackary as examples to her students and each year, her students hear all the stories of Bella and Zack's antics..at some point every year, we bring Bella and Zack in for a visit. The first time I ever brought Bella in to her school I thought we were being ambushed by the Papparazzi!! Everyone knew Bella.. EVERYONE! It was the sweetest thing. As the story of Bella's diagnosis has reached both Heather's past and present students, the outpouring of love and support has been impossible to describe.
Each year, the teachers donate money to a local charity so that they can wear jeans on Fridays. During a teacher's meeting this year, Heather asked if the charity could be Rett Syndrome. It was up to the teachers to decide if they wished to donate all or part of the money used for "Jean Friday" to Rett Syndrome. I can say, the checks came rolling in. It was a wonderful tribute to Heather. Then, just this past Friday, Heather arranged "Wear Purple Day" to finish out Rett Syndrome Awareness Month. Her entire school participated, it was a sea of purple and donations were given, even from "piggie banks". It was an overwhelming and moving show of support for both Heather and Bella. I am so proud of her and feel so blessed to have her as my sister and that my children have such an amazing young woman as their Auntie.
So as you can see..we are fighting the good fight.. we are doing our part so that we can be rid of Rett Syndrome.. so that NO other family must go through this.
October also brought good news for us as Bella passed her "swallow test" with FLYING colors! She is eating, chewing and swallowing just fine!!! She has been on acid reflux medicine for about a month and we have seen a significant reduction in her coughign and gagging. WHOO HOO!
Bella is now 28 pounds 2 ounces.. she continues to thrive with her weight and her muscles are getting stronger. She has made much progress and we are feeling so thankful and blessed. I cannot help but think that it is due, not only to my daughter's amazing spirit, but to all the prayers and love and positive energy that she is surrounded by.
October has been pretty good to us. We are fighting, fighting hard, through it all, the ups the downs, the saddness and the joy, and I am beginning to believe that Rett Syndrome is starting to question whether it was a good idea to take on the Rutko/Ceritto families and TEAM BELLA!!!!
Tuesday, November 1, 2011
Monday, October 3, 2011
Seasons Change....
The fall is here. It has always been my favorite time of year. Summer has ended and I have to say I am breathing a sigh of relief. This summer did not turn out quite the way I planned. I had images of Bella and Zackary running around the yard together, exploring the beach and reporting back with what they found. Bella leading the way with Zackary trying to keep up.
But it is ok.. because those images were replaced with what are now my memories of Summer 2011. Countless beach days with our FAMILY. The meaning of that word has always held great importance to me. Family is where you come from, constant, unchangeable. Since June 21, 2011 however I realize that family is all of that but it is much more as well, it expands beyond your blood, it is more than lineage or heritage. Family is pure love and support. Our family has grown this summer, ten fold.
For those who do not know it, October is Rett Syndrome Awareness month! So take out your purple and wear it proud!! Spread the word to a friend, encourage people to find out what Rett Syndrome is and how they can help the fight!
Since I have last posted we have started to reach out to other Rett families and support resources. It took me some time, but I was finally ready. I really needed to connect with other Rett families. When Bella was first diagnosed there was just an immediate sense of isolation, of life never being the same and that everything we knew had changed. Reaching out to those who have been there before us has brought a comfort that I cannot describe.
I met 9 other Rett Moms this month at a dinner. All 10 of us varied in age and our daughters varied in age and severity. Now you might think a dinner with 10 moms of daughters with a pretty devastating neurological disorder would be about as much fun as root canal..actually it was the opposite. It was WONDERFUL. You could immediately feel the love and bond that ties us all together.. we laughed and joked, in spite of ourselves and this Rett world we live in. What I took away was these women, most of whom have been on this road for the better of 10 years, still laugh, still live life and I cannot tell you how hopeful that felt to me.
Now for a Bella update...which is always the most important part of this blog of course... day after day Bella is just the happiest, most beautiful little girl in the world. Her smiles are endless and her giggles just keep the sun in the sky.
Bella is always on the move. I would say that is the biggest progress I can report. She now will rise up on her knees without the support of the couch or the table. When she is laying on her back on the floor and I go to lift her up she will actually put her feet down so that instead of me picking her up, she pulls to stand. She is getting stronger I can actually feel it. She hasn't started "cruising" yet. So although she will stand against the couch or coffee table she doesn't take steps around it. Slow and steady...
Bella LOVES her Kid Walk. We actually took it with us down to Bonnet Shores two weekends ago so that while we all watched the football game, she could have some mobility and independence, like Zackary. I will tell you, that took some deep breathes as it was the first time we took Bella out in public in her Kid Walk. I think Jeff and I went into immediate protective mode.. fear set in that people would somehow look at Bella in a negative, hurtful way. But to our most pleasant surprise..it was the opposite.. strangers just smiled at her and encouraged her to keep moving. And Miss Bella stole the show.. and a bunch of hearts along the way, of that I am sure.
The smile on her face was amazing. She was just so proud of herself being able to move around and that took all my fears away. I was filled with a sense of pride and found myself saying "that's MY girl". I felt that others should somehow be envious of me. Because that smile means that much, it is that powerful that I actually feel bad for those who don't feel it like I do.
On the medical front.. Bella was finally seen by the gastro doctor and was put on Previcid for her acid reflux. We explained our concern over her coughing and gagging and the doctor was hopeful that the acid reflux medicine would calm that down. Unfortunately Bella has to do a "Swallow Test" It is a modified barium test where she has to drink liquids of different thinkness to ensure that she is not aspirating any of her food/drinks. I need this test to be over and the results good..because when they start talking about "other methods of feeding" should she be aspirating, well let's just say I can't go there.
Bella's sleep still remains unpredictable but we have had many good nights in a row and that is such a relief. Her weighted blanket arrived tonight. For those of you who have never heard of a weighted blanket (geez where have you been??? LOL!) it is a soft cozy blanket filled with beans that weighs about four pounds. Apparently, the little bit of weight in the blanket, when put over someone with sensory integration issues, like Bella, it sends a signal to the brain to calm the body! Now of course I used it tonight and I know it could be a fluke, but Bella fell asleep QUICKLY and has been out like a light!! Got my fingers crossed on that one.
Bella's speech seems to be the most elusive. Gosh do I long to hear her voice. I ache to hear her mis-pronounce words like toddlers do. I just want to hear what she has to say. I look into her eyes all the time and I just feel that there is so much in there that she wants to say. Sometimes I just get tired of being the one doing all the talking. I know, hard to believe.
Bella and I do communicate though. Lately I feel this closeness to my little girl that I can't explain. Sometimes she just reaches over and pats me with her little hand, just at the right time, when I haven't said anything.. yet somehow knowing how much I needed that little pat. She laughs when I do our songs or our inside jokes. She is so smart. So unbelievably smart.
Tomorrow we go to the Augumentative Speech Department of Children's Hospital. Bella will be evaluated and we will have recommendations on what kind of communication devices or therapies are best suited for her. I am anxious for this as I just feel lost on this front. I know how to support her to walk (hold her hands, help her up) yet its very hard to figure out what is best to help her communicate. I just want to unlock the door..find the key and unlock the door that is holding my daughter prisoner.
So as one season ends, another one begins..kind of like the phases of Bella Kai's journey. She just keeps keeping on.. her endurance and strength are way beyond her two years. And we keep hoping and praying that before the end of another season we are that much closer to the cure.
But it is ok.. because those images were replaced with what are now my memories of Summer 2011. Countless beach days with our FAMILY. The meaning of that word has always held great importance to me. Family is where you come from, constant, unchangeable. Since June 21, 2011 however I realize that family is all of that but it is much more as well, it expands beyond your blood, it is more than lineage or heritage. Family is pure love and support. Our family has grown this summer, ten fold.
For those who do not know it, October is Rett Syndrome Awareness month! So take out your purple and wear it proud!! Spread the word to a friend, encourage people to find out what Rett Syndrome is and how they can help the fight!
Since I have last posted we have started to reach out to other Rett families and support resources. It took me some time, but I was finally ready. I really needed to connect with other Rett families. When Bella was first diagnosed there was just an immediate sense of isolation, of life never being the same and that everything we knew had changed. Reaching out to those who have been there before us has brought a comfort that I cannot describe.
I met 9 other Rett Moms this month at a dinner. All 10 of us varied in age and our daughters varied in age and severity. Now you might think a dinner with 10 moms of daughters with a pretty devastating neurological disorder would be about as much fun as root canal..actually it was the opposite. It was WONDERFUL. You could immediately feel the love and bond that ties us all together.. we laughed and joked, in spite of ourselves and this Rett world we live in. What I took away was these women, most of whom have been on this road for the better of 10 years, still laugh, still live life and I cannot tell you how hopeful that felt to me.
Now for a Bella update...which is always the most important part of this blog of course... day after day Bella is just the happiest, most beautiful little girl in the world. Her smiles are endless and her giggles just keep the sun in the sky.
Bella is always on the move. I would say that is the biggest progress I can report. She now will rise up on her knees without the support of the couch or the table. When she is laying on her back on the floor and I go to lift her up she will actually put her feet down so that instead of me picking her up, she pulls to stand. She is getting stronger I can actually feel it. She hasn't started "cruising" yet. So although she will stand against the couch or coffee table she doesn't take steps around it. Slow and steady...
Bella LOVES her Kid Walk. We actually took it with us down to Bonnet Shores two weekends ago so that while we all watched the football game, she could have some mobility and independence, like Zackary. I will tell you, that took some deep breathes as it was the first time we took Bella out in public in her Kid Walk. I think Jeff and I went into immediate protective mode.. fear set in that people would somehow look at Bella in a negative, hurtful way. But to our most pleasant surprise..it was the opposite.. strangers just smiled at her and encouraged her to keep moving. And Miss Bella stole the show.. and a bunch of hearts along the way, of that I am sure.
The smile on her face was amazing. She was just so proud of herself being able to move around and that took all my fears away. I was filled with a sense of pride and found myself saying "that's MY girl". I felt that others should somehow be envious of me. Because that smile means that much, it is that powerful that I actually feel bad for those who don't feel it like I do.
On the medical front.. Bella was finally seen by the gastro doctor and was put on Previcid for her acid reflux. We explained our concern over her coughing and gagging and the doctor was hopeful that the acid reflux medicine would calm that down. Unfortunately Bella has to do a "Swallow Test" It is a modified barium test where she has to drink liquids of different thinkness to ensure that she is not aspirating any of her food/drinks. I need this test to be over and the results good..because when they start talking about "other methods of feeding" should she be aspirating, well let's just say I can't go there.
Bella's sleep still remains unpredictable but we have had many good nights in a row and that is such a relief. Her weighted blanket arrived tonight. For those of you who have never heard of a weighted blanket (geez where have you been??? LOL!) it is a soft cozy blanket filled with beans that weighs about four pounds. Apparently, the little bit of weight in the blanket, when put over someone with sensory integration issues, like Bella, it sends a signal to the brain to calm the body! Now of course I used it tonight and I know it could be a fluke, but Bella fell asleep QUICKLY and has been out like a light!! Got my fingers crossed on that one.
Bella's speech seems to be the most elusive. Gosh do I long to hear her voice. I ache to hear her mis-pronounce words like toddlers do. I just want to hear what she has to say. I look into her eyes all the time and I just feel that there is so much in there that she wants to say. Sometimes I just get tired of being the one doing all the talking. I know, hard to believe.
Bella and I do communicate though. Lately I feel this closeness to my little girl that I can't explain. Sometimes she just reaches over and pats me with her little hand, just at the right time, when I haven't said anything.. yet somehow knowing how much I needed that little pat. She laughs when I do our songs or our inside jokes. She is so smart. So unbelievably smart.
Tomorrow we go to the Augumentative Speech Department of Children's Hospital. Bella will be evaluated and we will have recommendations on what kind of communication devices or therapies are best suited for her. I am anxious for this as I just feel lost on this front. I know how to support her to walk (hold her hands, help her up) yet its very hard to figure out what is best to help her communicate. I just want to unlock the door..find the key and unlock the door that is holding my daughter prisoner.
So as one season ends, another one begins..kind of like the phases of Bella Kai's journey. She just keeps keeping on.. her endurance and strength are way beyond her two years. And we keep hoping and praying that before the end of another season we are that much closer to the cure.
Sunday, September 18, 2011
Learning a New Language...
I have always found foreign languages fascinating and the thought of learning a new language like say, Italian, holds a certain romanticism to me. The new language I am learning now is the farthest thing from romantic. The months after Bella's diagnosis have been filled with learning...new words, phrases, etc..things I just never wanted to learn about. In order for everyone reading to understand a day in the life of Miss Bella Kai and her family I will have to share some of this new language with you. Words like, hippotherapy, sensory integration, augmentative communication device, weighted blanket, gastrointestinal, apraxia, IEP, medicaid waiver; etc etc..
Update on sweet Miss Bella.. she is now a whopping 27+ pounds! She has gained 20% of her body weight in a few months..which is GREAT news. Although, she has become quite the chunky monkey to carry around and dance with (one of her favorite things!). We recently saw her local neurologist and because of her weight gain her anti-seizure medication was increased. We had started to see some "pre-med" behaviors return, such as terrible nights with no sleep, teeth grinding and so we were hoping that with the increase in medication we might see those subside. I had also been noticing what I believed were the beginnings of "drop seizures" where Bella would have a momentary loss of muscle tone in her neck and her head would fall forward very rapidly. It would only last seconds but it concerned me. Now with the increase in medication which we have given to her a litle over a week and a half, I have not seen any head drops. And we are starting to get some relief in her sleep pattern..we are on night 2 of her falling right to sleep and most importantly, staying asleep. Rett girls have such a hard time calming their bodies so they can rest and fall asleep and if they awake, get back to sleep. I have read a lot about "weighted blankets" which are supposed to be wonderful in helping her sleep. So I have ordered one.. who would have thunk??
We are anxiously awaiting Bella's appointment back up in Boston on the 27th with the gastro doctor. Poor Bella has had a pretty big upswing in stomach issues. The issues cause her great discomfort and we spend long periods of the day trying to stop the screaming and head hitting. I just can't wait to get her some relief. She has days of constipation, days of diarrhea, days of acid reflux, days of gas cramps...its nearly impossible to keep her consistent and its just heartbreaking to see her go through it. I feel like once we get hold of that issue Bella will have a break, as this is really the only time she is "unhappy".
We have started a lot of new "therapies" as well. Bella has a busier schedule than the rest of the family and I have had to recently purchase a "white board" to keep it all straight!!!
Every Monday Bella goes to "hippotherapy"... now when I first heard this I was trying to figure out how a "hippo" was going to help Bella.. but thankfully I learned quickly that it was a horse that was going to help Bella, not a hippo!! This therapy is amazing... she actually will learn simulated actions in the developmental stage of say crawling, by getting up on her forearms and extended arms, all while on the horse. It will strengthen her legs, assist with balance and horses are known to aid in calming children with sensory issues and anxiety, like girls with Retts. Best of all.. Bella loves it!!! She seems to love animals and I am so happy she gets to do something that she enjoys seeing that she has some kind of therapy just about every day!
Bella continues to go to physical therapy twice a week where she most often does her session on the pool. She may be warming to the idea as now she only screams for the first 20 minutes.. we have even seen a few smiles during the remaining 25 minutes. Her therapist reports that he can absolutely see and feel that Bella's muscle's have gotten stronger.
On the other days Bella has Early Intervention therapy which basically is somewhat like "occupational therapy" where things like teaching her to "stack blocks" and "empty/fill" and other similar activities are done. I have noticed that Bella does seem to be "playing" for the first time. She loves this musical soccer ball that Zackary received for his birthday. When you roll it music either plays or it counts the number of rolls. Bella will roll that ball on her own and follow it all over the house. She will give it a good roll, scoot over to where it is and roll it again. It is wonderful!!! I can't tell you the joy it brings us to see her playing!! That is hard to really explain unless you have experienced a child who has never played. I also see her looking at her toys differently and acting more appropriately with them. She will hug and kiss a baby doll, she will spin objects on toys or bang down a peg with her hand.
Best of all.. Bella has been an ACE on a little bike she received from someone very special to her. When we first put her on it she would sit and be very unsteady with her balance. It has not taken her long to become a PRO. She gets on it and cruises around the house, self propelling herself with her legs. And her balance has become very good and she rarely falls off. As recent as today I have seen additional progress where she is starting to propel herself alternating legs rather than using both legs at the same time. I am encouraged by this because alternating legs is what she needs to learn to walk. She actually rolled right into our pantry and I was lucky enough to catch her pulling up to standing from her seat on the bike by using the racks in the pantry.
When you are with Bella every day it can seem like nothing is happening, no progress is getting made or if there is any, it is painfully slow. That is how it is for me... until I actually sit here and write all of her accomplishments and find myself smiling. I guess it is just never going to be fast enough. When you want your child to walk and talk, it just can't happen soon enough. But I am thankful I have all this progress to report.
Bella also starts speech therapy this week. I am so hopeful that we can provide Bella with a way to communicate with us. Which to me is still one of the most painful parts. We will be working with Bella to gain the ability to deliberately point and select with her fingers. If we can do this, Bella could benefit from the use of a communication device. It really is amazing what is out there to help children with special needs. The device that Bella will start with is pretty elementary but could open a whole world for us.. it will show a variety of pictures and Bella will select what she wants to communicate, such as pictures of food, or a glass or of bed etc. When she selects it, the recording will say "I am thirsty".. etc. It will give her a voice.. so she can express her needs. Simple as that. Imagine not being able to express something so simple as that but knowing in your head you would really like a drink....a living hell if you ask me. And I will be damned if my daughter stays trapped like that.
So as Sunday night comes to a close, I am excited to start another week, tomorrow Bella has PT and Horses... busy little girl, busy Mommy and Daddy. But as each new week begins there is new promise, for more progress. And with each new week there is hope. Hope that a cure will come soon and that all of this work Bella is doing now will help her transition quickly once the cure is found. So she will look up at me and say "See Mom, it all paid off, I got this.."
Update on sweet Miss Bella.. she is now a whopping 27+ pounds! She has gained 20% of her body weight in a few months..which is GREAT news. Although, she has become quite the chunky monkey to carry around and dance with (one of her favorite things!). We recently saw her local neurologist and because of her weight gain her anti-seizure medication was increased. We had started to see some "pre-med" behaviors return, such as terrible nights with no sleep, teeth grinding and so we were hoping that with the increase in medication we might see those subside. I had also been noticing what I believed were the beginnings of "drop seizures" where Bella would have a momentary loss of muscle tone in her neck and her head would fall forward very rapidly. It would only last seconds but it concerned me. Now with the increase in medication which we have given to her a litle over a week and a half, I have not seen any head drops. And we are starting to get some relief in her sleep pattern..we are on night 2 of her falling right to sleep and most importantly, staying asleep. Rett girls have such a hard time calming their bodies so they can rest and fall asleep and if they awake, get back to sleep. I have read a lot about "weighted blankets" which are supposed to be wonderful in helping her sleep. So I have ordered one.. who would have thunk??
We are anxiously awaiting Bella's appointment back up in Boston on the 27th with the gastro doctor. Poor Bella has had a pretty big upswing in stomach issues. The issues cause her great discomfort and we spend long periods of the day trying to stop the screaming and head hitting. I just can't wait to get her some relief. She has days of constipation, days of diarrhea, days of acid reflux, days of gas cramps...its nearly impossible to keep her consistent and its just heartbreaking to see her go through it. I feel like once we get hold of that issue Bella will have a break, as this is really the only time she is "unhappy".
We have started a lot of new "therapies" as well. Bella has a busier schedule than the rest of the family and I have had to recently purchase a "white board" to keep it all straight!!!
Every Monday Bella goes to "hippotherapy"... now when I first heard this I was trying to figure out how a "hippo" was going to help Bella.. but thankfully I learned quickly that it was a horse that was going to help Bella, not a hippo!! This therapy is amazing... she actually will learn simulated actions in the developmental stage of say crawling, by getting up on her forearms and extended arms, all while on the horse. It will strengthen her legs, assist with balance and horses are known to aid in calming children with sensory issues and anxiety, like girls with Retts. Best of all.. Bella loves it!!! She seems to love animals and I am so happy she gets to do something that she enjoys seeing that she has some kind of therapy just about every day!
Bella continues to go to physical therapy twice a week where she most often does her session on the pool. She may be warming to the idea as now she only screams for the first 20 minutes.. we have even seen a few smiles during the remaining 25 minutes. Her therapist reports that he can absolutely see and feel that Bella's muscle's have gotten stronger.
On the other days Bella has Early Intervention therapy which basically is somewhat like "occupational therapy" where things like teaching her to "stack blocks" and "empty/fill" and other similar activities are done. I have noticed that Bella does seem to be "playing" for the first time. She loves this musical soccer ball that Zackary received for his birthday. When you roll it music either plays or it counts the number of rolls. Bella will roll that ball on her own and follow it all over the house. She will give it a good roll, scoot over to where it is and roll it again. It is wonderful!!! I can't tell you the joy it brings us to see her playing!! That is hard to really explain unless you have experienced a child who has never played. I also see her looking at her toys differently and acting more appropriately with them. She will hug and kiss a baby doll, she will spin objects on toys or bang down a peg with her hand.
Best of all.. Bella has been an ACE on a little bike she received from someone very special to her. When we first put her on it she would sit and be very unsteady with her balance. It has not taken her long to become a PRO. She gets on it and cruises around the house, self propelling herself with her legs. And her balance has become very good and she rarely falls off. As recent as today I have seen additional progress where she is starting to propel herself alternating legs rather than using both legs at the same time. I am encouraged by this because alternating legs is what she needs to learn to walk. She actually rolled right into our pantry and I was lucky enough to catch her pulling up to standing from her seat on the bike by using the racks in the pantry.
When you are with Bella every day it can seem like nothing is happening, no progress is getting made or if there is any, it is painfully slow. That is how it is for me... until I actually sit here and write all of her accomplishments and find myself smiling. I guess it is just never going to be fast enough. When you want your child to walk and talk, it just can't happen soon enough. But I am thankful I have all this progress to report.
Bella also starts speech therapy this week. I am so hopeful that we can provide Bella with a way to communicate with us. Which to me is still one of the most painful parts. We will be working with Bella to gain the ability to deliberately point and select with her fingers. If we can do this, Bella could benefit from the use of a communication device. It really is amazing what is out there to help children with special needs. The device that Bella will start with is pretty elementary but could open a whole world for us.. it will show a variety of pictures and Bella will select what she wants to communicate, such as pictures of food, or a glass or of bed etc. When she selects it, the recording will say "I am thirsty".. etc. It will give her a voice.. so she can express her needs. Simple as that. Imagine not being able to express something so simple as that but knowing in your head you would really like a drink....a living hell if you ask me. And I will be damned if my daughter stays trapped like that.
So as Sunday night comes to a close, I am excited to start another week, tomorrow Bella has PT and Horses... busy little girl, busy Mommy and Daddy. But as each new week begins there is new promise, for more progress. And with each new week there is hope. Hope that a cure will come soon and that all of this work Bella is doing now will help her transition quickly once the cure is found. So she will look up at me and say "See Mom, it all paid off, I got this.."
Thursday, September 1, 2011
A Mother's Ramblings....
There were times in my life when I would imagine how great it would be to take off and back pack around Europe or jump in a car and just drive with no given destination. It wasn't too long into those daydreams when I would start laughing, knowing myself way too well, and thinking..there is NO way that would happen..I need maps and guide books, itineraries and hotel reservations.. all done way in advance. I now find that ironic. When I started this blog I thought I aptly entitled it "Bella Kai's Journey". I have come to realize that it may not be very accurate. It is more than Bella's journey. It is her entire family's journey. On June 21, 2011 we all started out together, bound by one goal...survival. Its funny, I didn't even have time to pack a bag. Its only been a little over 2 months and I feel like we have already traveled a million miles. And although we are all out there together, we are all wearing very different traveling shoes. It has become necessity that we all follow our own compass as to which ways to turn for it isn't an easy journey.. there are so many pitfalls that come completely out of the blue.
I myself have taken many turns..much of them alone, truly believing I know the right way (I was never really good with directions). You see, that is how I came to be at the bottom of a very deep well. Just didn't see it coming, I wasn't prepared. Even though the fall was quick, getting out seems to be a bit tougher. Oh there are days where my efforts are rewarded and I see that I have scratched and pulled myself up about 5-10 feet. I look up and see the light getting closer, bigger..and then it happens, I slip and bang, right back at the bottom of the well. This seems to happen over and over again.
Now my fellow travelers, those who are most dear to me in the entire world, they never criticize my path, rather they seem to come running from wherever they might be on their own part of this journey and they join together and try to come up with solutions to get me out of that well. Yet, how fair is that? They have all hit their own pitfalls along this road, of that I am sure. But nevertheless they are there. And despite their very best efforts, I am still at the bottome looking up at all of their faces.. feeling disappointed in myself and feeling that I have let them down.
Before this journey began I really did believe I was a pretty good tour guide, that I could navigate best for my friends and family. I had big plans for teaching my children these good techniques and preparedness. I guess that is the funny thing about journeys.. they never turn out quite as you thought they would.
And the funny thing about being at the bottom of a well.. it gives you a lot of time to think. Surprisingly my thoughts are not of doom and gloom..no, not at all.. the thoughts that fill my head are of my children and my husband. I see Zackary's big blue eyes full of devilish delight and I hear his sweet laughter as he calls after his sister. I hear the pitter patter of his chubby little feet as he shows off how good he is at running. I see my husband's face and I remember the first time I knew I was in love with him. How powerful that feeling was that it nearly blew me over. I instantly feel that feeling he gives me which just makes me want to be a better person. But most of all.. I see Bella...I see her smile. Its not just any smile.. it is an innocent, pure, perfectly angelic smile. It throws light down the well and almost blinds me for a second...but then my eyes adjust and her face is clear. She is at the top of the well and she is speaking to me, without words, she is telling me all I need to know to get out. Then she giggles that contagious, heartwarming giggle that wraps around me, it is as if she is laughing at how silly I am for getting stuck down there in the first place. I find myself pulling up, up and out.
I stand alone at the top of the well and look back down at where I have been for the last few days. And I say a quick prayer that I don't make a wrong turn like that again. I am not naive enough to think it may not happen again, or that I won't encounter other dangerous pitfalls but one thing is abundantly clear..I do have a guide, a teacher in the most unexpected form..for she is only 2 years old. Yet despite her youth and tiny size, she guides me so easily and gently, as if she has done this a million times before. She leaves me with no doubt that she is willing to do it a million more. Her love is unconditional and all she needs to do is smile and wrap her small arms around my neck. And for that moment, the next few steps light up in front of me. Not the whole path, because if I am learning nothing else, it is to go slow, take in all that is around me. Marvel at the beauty, one moment, one step at a time.
I myself have taken many turns..much of them alone, truly believing I know the right way (I was never really good with directions). You see, that is how I came to be at the bottom of a very deep well. Just didn't see it coming, I wasn't prepared. Even though the fall was quick, getting out seems to be a bit tougher. Oh there are days where my efforts are rewarded and I see that I have scratched and pulled myself up about 5-10 feet. I look up and see the light getting closer, bigger..and then it happens, I slip and bang, right back at the bottom of the well. This seems to happen over and over again.
Now my fellow travelers, those who are most dear to me in the entire world, they never criticize my path, rather they seem to come running from wherever they might be on their own part of this journey and they join together and try to come up with solutions to get me out of that well. Yet, how fair is that? They have all hit their own pitfalls along this road, of that I am sure. But nevertheless they are there. And despite their very best efforts, I am still at the bottome looking up at all of their faces.. feeling disappointed in myself and feeling that I have let them down.
Before this journey began I really did believe I was a pretty good tour guide, that I could navigate best for my friends and family. I had big plans for teaching my children these good techniques and preparedness. I guess that is the funny thing about journeys.. they never turn out quite as you thought they would.
And the funny thing about being at the bottom of a well.. it gives you a lot of time to think. Surprisingly my thoughts are not of doom and gloom..no, not at all.. the thoughts that fill my head are of my children and my husband. I see Zackary's big blue eyes full of devilish delight and I hear his sweet laughter as he calls after his sister. I hear the pitter patter of his chubby little feet as he shows off how good he is at running. I see my husband's face and I remember the first time I knew I was in love with him. How powerful that feeling was that it nearly blew me over. I instantly feel that feeling he gives me which just makes me want to be a better person. But most of all.. I see Bella...I see her smile. Its not just any smile.. it is an innocent, pure, perfectly angelic smile. It throws light down the well and almost blinds me for a second...but then my eyes adjust and her face is clear. She is at the top of the well and she is speaking to me, without words, she is telling me all I need to know to get out. Then she giggles that contagious, heartwarming giggle that wraps around me, it is as if she is laughing at how silly I am for getting stuck down there in the first place. I find myself pulling up, up and out.
I stand alone at the top of the well and look back down at where I have been for the last few days. And I say a quick prayer that I don't make a wrong turn like that again. I am not naive enough to think it may not happen again, or that I won't encounter other dangerous pitfalls but one thing is abundantly clear..I do have a guide, a teacher in the most unexpected form..for she is only 2 years old. Yet despite her youth and tiny size, she guides me so easily and gently, as if she has done this a million times before. She leaves me with no doubt that she is willing to do it a million more. Her love is unconditional and all she needs to do is smile and wrap her small arms around my neck. And for that moment, the next few steps light up in front of me. Not the whole path, because if I am learning nothing else, it is to go slow, take in all that is around me. Marvel at the beauty, one moment, one step at a time.
Saturday, August 20, 2011
Days go by....
Been away too long.. seems like forever since I have sat down and posted about Bella's journey. Thinking about it I realize that we are settling in to this life. That somehow with the passing of time we are beginning our road towards acceptance. I say beginning our road, because I am not sure if I will ever "accept" this hand we have been dealt. But as time passes from those horrible first days, our family has begun a routine of daily life. Its amazing how the human mind pushes on.. even on those days you don't want to get out of bed.
A sense of "normalcy" has settled over our home. Not necessarily everyone else's "normal". But our normal. Bella continues to be well and is happy most of the time. We continue to see great strides in her progress. Her happiness always makes the days easy to take. She currently has physical therapy twice a week and Early Intervention once a week. We are waiting on an appointment with the Communication/Speech Therapy coordinator at Children's Hospital. In the meantime we continue with learning/teaching Bella simple sign language so she can communicate. She has really mastered the "more" sign and is using it appropriately! Especially when she wants more food! Her appetite continues to soar..she continues to gain weight and is filling out a lot. She has the most beautiful round face and though I never thought I would say this, her legs actually look chunky! It is very apparent that she is becoming stronger. She stands (with assistance) for much longer periods of time and is very solid on her feet. And the best part is she smiles while doing it. I feel like she finally has a desire to be mobile.
We have also acquired the "kid walk" which is a walker designed to help her walk on her own. While it is one crazy looking contraption, it is working and bringing Bella a sense of independence she is craving. I will try to post a picture soon.
As time passes it seems that Bella continues to work on her speech. She has become very "vocal" even though most of the time it is babbling. A wonderful thing happened a few days ago.. while playing with Jeff and I, she clearly said "Da Da". I can't tell you the joy those sounds brought to Jeff and I. Those were the first words Bella ever said before her regression and I think we both had a silent fear we may never hear them again. It seems that she is making those important "connections" in her brain that are giving her some "words" back. It gives us such hope.
We have Bella's gastro appointment back up in Boston on September 27th. Bella has good days and bad days with her stomach issues and I will be glad to have her checked out. It would be nice to find out if there is anything we can do to ease that discomfort for her.
Bella's hand use continues to be strong. We caught a biggie tonight actually, she picked up her fork from her tray and put the piece of chicken right in her mouth! We were so proud of her and she just sat there beaming.
As Bella's smile grows bigger each day and we hear her infectious giggle, there are moments of peace, where life seems bearable. She makes me strong, I actually feel it. And I treasure those moments. It makes the tough times easier to bear. And I am not going to lie...there continue to be tough times. I have made peace with the fact that at this moment my daughter does not walk or talk, that each day I have to dispense a bunch of different medications to her, that it is becoming more difficult to carry her as she gains weight, that she grinds her teeth for most of the day, oddly enough, these are part of our "normal"...but what I struggle with are the periods of inconsolable screaming, head banging and displays of frustration that are part of this beast called Retts. Even though I was told by her doctor that this is part of it, that you cannot console her, that she must work through it..it hurts. It hurts to know that as a Mother I can do nothing to soothe my baby. When it happens I just want to wrap her in my arms and whisper in her ear that everything is going to be alright..but if I do (and yes, I have tried) it makes it worse. Its hard to explain as much as it sounds like a normal 2 year old tantrum..its not. If you were to witness it you would know what I mean. Those members of our family who have, feel the same overwhelming helplessness.
Running a close second are the sleep issues. It is a struggle for Bella to quiet her mind and body when its time for bed. So many Retts girls are on medication for sleep and I am so glad we do not have to go that route. But it is hard to deal with.. Bella is clearly tired when we put her to bed yet she has such a tough time going to bed. On a bad night its a good 2-3 hours before she is asleep...on a really good night its no longer than a 1/2 hour. I would say the average night has become 1-1 1/2 hours. I am thankful however that she really has begun to sleep through the night once she is asleep. I would say no more than a handful of times through a month is she waking in the night.
Overall.. we march on. Treasure all the smiles, all the giggles, all the hugs.. and we fight through the rest. And I can truly say we are doing well. We are a happy family for we have the greatest of gifts...given to us by our Bella Angel..the understanding that a smile can heal a broken heart, that a giggle takes away saddness and that a hug is truly a magical thing.
A sense of "normalcy" has settled over our home. Not necessarily everyone else's "normal". But our normal. Bella continues to be well and is happy most of the time. We continue to see great strides in her progress. Her happiness always makes the days easy to take. She currently has physical therapy twice a week and Early Intervention once a week. We are waiting on an appointment with the Communication/Speech Therapy coordinator at Children's Hospital. In the meantime we continue with learning/teaching Bella simple sign language so she can communicate. She has really mastered the "more" sign and is using it appropriately! Especially when she wants more food! Her appetite continues to soar..she continues to gain weight and is filling out a lot. She has the most beautiful round face and though I never thought I would say this, her legs actually look chunky! It is very apparent that she is becoming stronger. She stands (with assistance) for much longer periods of time and is very solid on her feet. And the best part is she smiles while doing it. I feel like she finally has a desire to be mobile.
We have also acquired the "kid walk" which is a walker designed to help her walk on her own. While it is one crazy looking contraption, it is working and bringing Bella a sense of independence she is craving. I will try to post a picture soon.
As time passes it seems that Bella continues to work on her speech. She has become very "vocal" even though most of the time it is babbling. A wonderful thing happened a few days ago.. while playing with Jeff and I, she clearly said "Da Da". I can't tell you the joy those sounds brought to Jeff and I. Those were the first words Bella ever said before her regression and I think we both had a silent fear we may never hear them again. It seems that she is making those important "connections" in her brain that are giving her some "words" back. It gives us such hope.
We have Bella's gastro appointment back up in Boston on September 27th. Bella has good days and bad days with her stomach issues and I will be glad to have her checked out. It would be nice to find out if there is anything we can do to ease that discomfort for her.
Bella's hand use continues to be strong. We caught a biggie tonight actually, she picked up her fork from her tray and put the piece of chicken right in her mouth! We were so proud of her and she just sat there beaming.
As Bella's smile grows bigger each day and we hear her infectious giggle, there are moments of peace, where life seems bearable. She makes me strong, I actually feel it. And I treasure those moments. It makes the tough times easier to bear. And I am not going to lie...there continue to be tough times. I have made peace with the fact that at this moment my daughter does not walk or talk, that each day I have to dispense a bunch of different medications to her, that it is becoming more difficult to carry her as she gains weight, that she grinds her teeth for most of the day, oddly enough, these are part of our "normal"...but what I struggle with are the periods of inconsolable screaming, head banging and displays of frustration that are part of this beast called Retts. Even though I was told by her doctor that this is part of it, that you cannot console her, that she must work through it..it hurts. It hurts to know that as a Mother I can do nothing to soothe my baby. When it happens I just want to wrap her in my arms and whisper in her ear that everything is going to be alright..but if I do (and yes, I have tried) it makes it worse. Its hard to explain as much as it sounds like a normal 2 year old tantrum..its not. If you were to witness it you would know what I mean. Those members of our family who have, feel the same overwhelming helplessness.
Running a close second are the sleep issues. It is a struggle for Bella to quiet her mind and body when its time for bed. So many Retts girls are on medication for sleep and I am so glad we do not have to go that route. But it is hard to deal with.. Bella is clearly tired when we put her to bed yet she has such a tough time going to bed. On a bad night its a good 2-3 hours before she is asleep...on a really good night its no longer than a 1/2 hour. I would say the average night has become 1-1 1/2 hours. I am thankful however that she really has begun to sleep through the night once she is asleep. I would say no more than a handful of times through a month is she waking in the night.
Overall.. we march on. Treasure all the smiles, all the giggles, all the hugs.. and we fight through the rest. And I can truly say we are doing well. We are a happy family for we have the greatest of gifts...given to us by our Bella Angel..the understanding that a smile can heal a broken heart, that a giggle takes away saddness and that a hug is truly a magical thing.
Friday, August 5, 2011
"Unknown Clinical Significance" - Now Known...
Bella had her first taste of the Big City yesterday and I would say she quite liked it. It was a beautiful day to be out on the city streets and boy did everyone take advantage of that. I think Bella was amazed at all the people.. she is a little country girl after all, but she sure had a twinkle in her eye with all the hustle and bustle.
It was a long, information filled, and tiring day.. I know so many of you were waiting on news but we were all very beat and I just didn't want to rush a post and not give all the information we received. So here it is.....hope you have a minute or two...
We have our answers, we have our diagnosis... Bella has Rett Syndrome, no question, no doubt.
So, finally we understand that although her variant on R133h of the MECP2 gene is rare... it is in fact Rett Syndrome. I guess we always knew that was the most likely outcome, but I think there was always this sliver of hope in the back of our minds.. even if it was the way back.. that this was something "else" and Bella would just outgrow it. When we were originally told her variant was of "unknown clinical significance" and the doctors we had seen weren't ready to say 100% that it was Retts, it gave us this life raft to hold onto.. even with her (what has always seemed to me.. clear symptoms and behaviors of Retts), I think we all tried to keep a finger on that life raft. So it was sort of a "second blow". Not quite as hard of a sucker punch as the first one..but a pretty good jab just the same.
Without a doubt, we saw the leading expert in the field of Retts... he was absolutely unbelievable. We left with ALL and I mean, all, of our questions answered. Specifically, here is what we learned:
1. In categorizing girls with Retts, they use "mild, moderate and severe". Bella is mildly effected by the disease;
2. It is likely that Bella has a form of Retts where more of the healthy "X" chromosomes are turned on rather than more of the "affected X" chromosomes ;
3. The doctor states Bella is in extremely good health for a girl with Retts;
4. He feels that Bella WILL most likely walk!! Although it will take time, and lots of it;
5. We have seen the worst of her regression! She has NOT lost functional use of her hands which is such a blessing!
6. The likelihood of Bella speaking is somewhat less optimistic.. if she does regain speech she will most likely only say a few phrases; However she can learn other forms of communication such as sign language.
7. Bella can go to school.. what kind of school and where will be determined as we go along.
8. Bella most likely has acid reflux and will need medication and monitoring from a gastroenterologist.
9. Bella has been put on some super duper vitamins and supplements, including Q10 to build up her muscles to help her walk;
10. There is no guarantee that Bella will not have seizures in the future. 60% of Retts Girls have at least 1 seizure between the ages of 1-6. However, Bella is already on anti-seizure medication which will continue to be monitored and she will continue to have EEG's to make sure we stay on top of it. Seizures are the most dangerous for hurting Bella's progress and we must be diligent with this.
11. All of her current behaviors and symptoms are in fact related to Retts, from the constant rubbing of her nose, to her teeth grinding, to her hitting herself, to her mouthing toys and objects, to her hand gestures, to her sleep issues, it is all related. And the bright spot.. some of them should subside over time.
12. Bella and girls with Retts have sensory issues where overstimulation bothers them.. for example, with Bella.. she loves being with people, however, loud sudden noises from a large crowd causes her anxiety.. explains why she cries whenever "Happy Birthday" is sung with clapping at the end! Doctor said we would learn Bella's cues and either avoid those situations that cause extreme anxiety or just remove her momentarily.
13. Girls with Retts often have heart related health issues. Bella was given an EKG yesterday and will have to have one yearly to monitor her.
14. Girls with Retts have VERY GOOD receptive language, which means, Bella UNDERSTANDS everything that is said to her. Retts does not effect intelligence;
15. Life expectancy for a girl with Retts is getting better, with women living to middle age. The key is for them to remain healthy, no seizures, no heart issues etc...good medical care is essential.
While that is pretty much all of it, in a nutshell, I have saved the BIGGEST AND MOST HOPEFUL NEWS FOR LAST.... THEY ARE CLOSE AND I MEAN CLOSE TO A CURE!!!!!!!!!!!!
The doctor we saw is leading the research and told us that Bella is young and that is so wonderful because they are so close to finding a cure which REVERSES Retts. This would mean that once they have the cure, Bella would resume a normal healthy development with walking and talking and running and dates, and proms and sports and college and weddings etc etc etc....
They just need one thing.... money. They need money to fund the trials, the need money to develop the drug (which they have and have used to reverse the symptoms in mice)... they just need the funding. The doctor was confident that within Bella's lifetime they should have the cure... its just a matter of when. Obviously I would like that to be tomorrow... but to know its out there and a possibility... looks like someone turned that lifeboat around and sent it back our way.
We received the BEST possible news we could have yesterday, within the world of Retts. I guess that it still was hard to swallow because I don't want to be in the world of Retts, I don't want my daughter within the world of Retts. But reality being what it is... I can't change that. Bella has some significant challenges ahead of her, that is for certain. All of us who love her do. But as my husband says.. "we have her, we have her here everyday with us." And as I watch her every day, smiling and giggling and just bringing joy by being in the room.. I think this little girl is going to surprise us. I do know her father and I will do whatever we have to, we will walk to the end of this earth and back to make sure she has the best care and all she needs to meet every challenge. We have our mission now, we know our path, we know the name of what stands in our daughter's way and I will tell you.. we are ready to kick its ass.
It was a long, information filled, and tiring day.. I know so many of you were waiting on news but we were all very beat and I just didn't want to rush a post and not give all the information we received. So here it is.....hope you have a minute or two...
We have our answers, we have our diagnosis... Bella has Rett Syndrome, no question, no doubt.
So, finally we understand that although her variant on R133h of the MECP2 gene is rare... it is in fact Rett Syndrome. I guess we always knew that was the most likely outcome, but I think there was always this sliver of hope in the back of our minds.. even if it was the way back.. that this was something "else" and Bella would just outgrow it. When we were originally told her variant was of "unknown clinical significance" and the doctors we had seen weren't ready to say 100% that it was Retts, it gave us this life raft to hold onto.. even with her (what has always seemed to me.. clear symptoms and behaviors of Retts), I think we all tried to keep a finger on that life raft. So it was sort of a "second blow". Not quite as hard of a sucker punch as the first one..but a pretty good jab just the same.
Without a doubt, we saw the leading expert in the field of Retts... he was absolutely unbelievable. We left with ALL and I mean, all, of our questions answered. Specifically, here is what we learned:
1. In categorizing girls with Retts, they use "mild, moderate and severe". Bella is mildly effected by the disease;
2. It is likely that Bella has a form of Retts where more of the healthy "X" chromosomes are turned on rather than more of the "affected X" chromosomes ;
3. The doctor states Bella is in extremely good health for a girl with Retts;
4. He feels that Bella WILL most likely walk!! Although it will take time, and lots of it;
5. We have seen the worst of her regression! She has NOT lost functional use of her hands which is such a blessing!
6. The likelihood of Bella speaking is somewhat less optimistic.. if she does regain speech she will most likely only say a few phrases; However she can learn other forms of communication such as sign language.
7. Bella can go to school.. what kind of school and where will be determined as we go along.
8. Bella most likely has acid reflux and will need medication and monitoring from a gastroenterologist.
9. Bella has been put on some super duper vitamins and supplements, including Q10 to build up her muscles to help her walk;
10. There is no guarantee that Bella will not have seizures in the future. 60% of Retts Girls have at least 1 seizure between the ages of 1-6. However, Bella is already on anti-seizure medication which will continue to be monitored and she will continue to have EEG's to make sure we stay on top of it. Seizures are the most dangerous for hurting Bella's progress and we must be diligent with this.
11. All of her current behaviors and symptoms are in fact related to Retts, from the constant rubbing of her nose, to her teeth grinding, to her hitting herself, to her mouthing toys and objects, to her hand gestures, to her sleep issues, it is all related. And the bright spot.. some of them should subside over time.
12. Bella and girls with Retts have sensory issues where overstimulation bothers them.. for example, with Bella.. she loves being with people, however, loud sudden noises from a large crowd causes her anxiety.. explains why she cries whenever "Happy Birthday" is sung with clapping at the end! Doctor said we would learn Bella's cues and either avoid those situations that cause extreme anxiety or just remove her momentarily.
13. Girls with Retts often have heart related health issues. Bella was given an EKG yesterday and will have to have one yearly to monitor her.
14. Girls with Retts have VERY GOOD receptive language, which means, Bella UNDERSTANDS everything that is said to her. Retts does not effect intelligence;
15. Life expectancy for a girl with Retts is getting better, with women living to middle age. The key is for them to remain healthy, no seizures, no heart issues etc...good medical care is essential.
While that is pretty much all of it, in a nutshell, I have saved the BIGGEST AND MOST HOPEFUL NEWS FOR LAST.... THEY ARE CLOSE AND I MEAN CLOSE TO A CURE!!!!!!!!!!!!
The doctor we saw is leading the research and told us that Bella is young and that is so wonderful because they are so close to finding a cure which REVERSES Retts. This would mean that once they have the cure, Bella would resume a normal healthy development with walking and talking and running and dates, and proms and sports and college and weddings etc etc etc....
They just need one thing.... money. They need money to fund the trials, the need money to develop the drug (which they have and have used to reverse the symptoms in mice)... they just need the funding. The doctor was confident that within Bella's lifetime they should have the cure... its just a matter of when. Obviously I would like that to be tomorrow... but to know its out there and a possibility... looks like someone turned that lifeboat around and sent it back our way.
We received the BEST possible news we could have yesterday, within the world of Retts. I guess that it still was hard to swallow because I don't want to be in the world of Retts, I don't want my daughter within the world of Retts. But reality being what it is... I can't change that. Bella has some significant challenges ahead of her, that is for certain. All of us who love her do. But as my husband says.. "we have her, we have her here everyday with us." And as I watch her every day, smiling and giggling and just bringing joy by being in the room.. I think this little girl is going to surprise us. I do know her father and I will do whatever we have to, we will walk to the end of this earth and back to make sure she has the best care and all she needs to meet every challenge. We have our mission now, we know our path, we know the name of what stands in our daughter's way and I will tell you.. we are ready to kick its ass.
Sunday, July 31, 2011
Count Down to Boston...
Here it is the end of another week. I find that Sunday nights seem to be the time I collect my thoughts and feelings and recall the experiences that occurred during a particular week in Bella's journey. It is my quiet time to reflect and sometimes purge and it gives me a "re-start" for what's next.
We started the week anxious and nervous over Bella's MRI on Monday and ended the week with an appointment with Bella's neurologist. I am HAPPY to report that Bella's MRI was ruled ALL CLEAR! Yes, a collective SIGH rang through the Rutko family! Bella's doctor opened the door and the first words he said when he looked at Bella were "She looks like a different kid to me". Now he has not seen her since he prescribed her anti-seizure medicine a month and a half ago. He was visibly impressed with her progress so much so that he is staying the course with her current medication and we will re-evaluate it again in November. He seemed very hopeful that her progress could continue since seeing how far she had come in only a month and a half. We walked out of there with smiles on our faces and hope in our hearts.
This week will bring our trip to Children's Hospital in Boston for Bella to be seen by their Retts Center. I have probably mentioned before how anxious I am to go. I have so many questions and am so desperate for guidance and some kind of answers. I am trying to prepare myself however as I often think my expectations are unrealistic as to what they can tell me. But as Jeff and I were talking, it can't be any worse than where we are now, we have no answers now so worse case, if they cannot tell us anything new, its status quo.
Overall, it was a mixed week of highs and lows, which seems to be the course in this journey of ours. The MRI took its toll, not on sweet Bella, who was back to herself that afternoon, but on Mommy. Although I had no negative "gut" feelings, I believe that the worry had lodged itself in the back of my mind. As the week went on and we got closer to Bella's appointment on Friday where we would find out the results, I found myself beginning to fall apart. Probably didn't help that we have some new concerns over some of Bella's recent behaviors..which I will get to. By Wednesday and Thursday I was down right ANGRY... haven't been angry since the first days, but for some reason I was just plain mad. I could not seem to find my way to "positive thinking" for the life of me. I am often tired of being positive.. which is no easy task when your heart is constantly aching.
Bella also had a few rough days which brought up some new cause for concern. She is constantly grinding her teeth and nothing we do seems to stop it. She grinds for most of the day and has episodes of screaming and hitting herself in the head combined with holding her head in her hands. It is very upsetting to watch and most often sends me into a tailspin. I have no idea if something new is hurting her or if perhaps her jaw or head simply hurts from grinding. She is also inconsolable during these periods which is never easy. In addition, she seems to be coughing/gagging a lot more after she eats and when she lays down for bed. I am concerned that she is having acid reflux (which is yet another unfortunate symptom). One night this week she was gagging and coughing so much that she ended up getting sick. I truly believe it was not from anything she ate, but from her trying to get the reflux feeling out.
So you see, this week these things just made me MAD. I fight so hard not to wallow in self pity and I know all the logical reasons for staying positive, but this past week I just didn't have it in me. So I ended up spending two days being angry and wanting to break and throw things. I stopped short of the breaking things but it felt good to say it. In sharing my feelings with my incredible support team, I was able to keep it at two days, that was all I allowed myself and decided it was time to pull myself up and get back to the business of fighting the good fight with my daughter. So I add these concerns to the list for Boston and hope for answers.
Then Friday came and we got such great news at her appointment and such positive feedback from her doctor, it was the momentum we needed. Sometimes being on this crazy roller coaster skews our perspective..it was her doctor saying "look at how much has happened with her progress and its only been a month and a half". It is like the passing of time, since this whole thing started, seems to me to exist in some alternative universe where a day equals a year. So sometimes I forget how much Bella has improved in a short period of time. So it was a good reminder. It is so strange how sometimes it is something so obvious that someone says or points out that has a profound effect on me and provides clarity. Even for a moment.
Clarity and understanding..two of the many things I am hoping this week's appointment in Boston will bring. So we wait..and of course I will write and share all we learn. Please if I may be so bold to ask again, keep Bella in your prayers...I know the medicine is working, but I think it goes a lot further than that.. and I thank all of you.
We started the week anxious and nervous over Bella's MRI on Monday and ended the week with an appointment with Bella's neurologist. I am HAPPY to report that Bella's MRI was ruled ALL CLEAR! Yes, a collective SIGH rang through the Rutko family! Bella's doctor opened the door and the first words he said when he looked at Bella were "She looks like a different kid to me". Now he has not seen her since he prescribed her anti-seizure medicine a month and a half ago. He was visibly impressed with her progress so much so that he is staying the course with her current medication and we will re-evaluate it again in November. He seemed very hopeful that her progress could continue since seeing how far she had come in only a month and a half. We walked out of there with smiles on our faces and hope in our hearts.
This week will bring our trip to Children's Hospital in Boston for Bella to be seen by their Retts Center. I have probably mentioned before how anxious I am to go. I have so many questions and am so desperate for guidance and some kind of answers. I am trying to prepare myself however as I often think my expectations are unrealistic as to what they can tell me. But as Jeff and I were talking, it can't be any worse than where we are now, we have no answers now so worse case, if they cannot tell us anything new, its status quo.
Overall, it was a mixed week of highs and lows, which seems to be the course in this journey of ours. The MRI took its toll, not on sweet Bella, who was back to herself that afternoon, but on Mommy. Although I had no negative "gut" feelings, I believe that the worry had lodged itself in the back of my mind. As the week went on and we got closer to Bella's appointment on Friday where we would find out the results, I found myself beginning to fall apart. Probably didn't help that we have some new concerns over some of Bella's recent behaviors..which I will get to. By Wednesday and Thursday I was down right ANGRY... haven't been angry since the first days, but for some reason I was just plain mad. I could not seem to find my way to "positive thinking" for the life of me. I am often tired of being positive.. which is no easy task when your heart is constantly aching.
Bella also had a few rough days which brought up some new cause for concern. She is constantly grinding her teeth and nothing we do seems to stop it. She grinds for most of the day and has episodes of screaming and hitting herself in the head combined with holding her head in her hands. It is very upsetting to watch and most often sends me into a tailspin. I have no idea if something new is hurting her or if perhaps her jaw or head simply hurts from grinding. She is also inconsolable during these periods which is never easy. In addition, she seems to be coughing/gagging a lot more after she eats and when she lays down for bed. I am concerned that she is having acid reflux (which is yet another unfortunate symptom). One night this week she was gagging and coughing so much that she ended up getting sick. I truly believe it was not from anything she ate, but from her trying to get the reflux feeling out.
So you see, this week these things just made me MAD. I fight so hard not to wallow in self pity and I know all the logical reasons for staying positive, but this past week I just didn't have it in me. So I ended up spending two days being angry and wanting to break and throw things. I stopped short of the breaking things but it felt good to say it. In sharing my feelings with my incredible support team, I was able to keep it at two days, that was all I allowed myself and decided it was time to pull myself up and get back to the business of fighting the good fight with my daughter. So I add these concerns to the list for Boston and hope for answers.
Then Friday came and we got such great news at her appointment and such positive feedback from her doctor, it was the momentum we needed. Sometimes being on this crazy roller coaster skews our perspective..it was her doctor saying "look at how much has happened with her progress and its only been a month and a half". It is like the passing of time, since this whole thing started, seems to me to exist in some alternative universe where a day equals a year. So sometimes I forget how much Bella has improved in a short period of time. So it was a good reminder. It is so strange how sometimes it is something so obvious that someone says or points out that has a profound effect on me and provides clarity. Even for a moment.
Clarity and understanding..two of the many things I am hoping this week's appointment in Boston will bring. So we wait..and of course I will write and share all we learn. Please if I may be so bold to ask again, keep Bella in your prayers...I know the medicine is working, but I think it goes a lot further than that.. and I thank all of you.
Monday, July 25, 2011
MRI Monday....
Today was Bella's MRI at Hasbro's Center for Pediatric Imaging. It was not a day I had been looking forward to. Now having a few MRI's of my own I know it is not a test that is painful or invasive, but thinking about my 2 year old in that big machine was just not pleasant. As you can imagine when an MRI is needed on a child of Bella's age and they need her perfectly still, they need to sedate her to get it done. That is the part that was scaring me. Bella has never been under anesthesia and while the test itself is not risky, anytime you go "under" there are risks associated with it. Bella's neurologist had held off scheduling the MRI for the very reason that unnecessarily sedating a child is not something they like to do. But once her EEG came back abnormal, he felt it necessary to do the MRI to make sure nothing is overlooked and everything is checked out.
So off we went this morning. Bella's appointment was at 8am and she could not eat or drink anything after 7am. I was a bit worried because Miss Bella LIKES her food and when she doesn't have a full belly, well, lets just say she is less than happy. As I figured Bella was not in the greatest of moods while we checked in and got her ready for the test. But in Bella fashion, she was a TROOPER! And the staff at Hasbro was amazing. They have quite the operation and walked us through everything before it happened.
It was interesting to me that the entire staff that was attending to Bella were all first Pediatric Intesive Care personnel before moving over to the imaging department. That was a wonderful comfort to Jeff and I because our thoughts of course were, if anything was to happen, she is in the best place for it to be taken care of. They take such care when sedating a young child like Bella... they monitored her just as they would if she was in surgery. It really was amazing the precautions and steps they took to ensure her safety.
Both Jeff and I wanted to be with her, in the same room during the MRI, so we were screened by the MRI staff to make sure we could be due to the strength of the magnetic field surrounding the machine. Turned out that because Jeff had worked with grinding metal in the past (regardless of how many years ago) they would not let him stay for fear that if a tiny piece had lodged in his eye the magnet could move it. So Jeff was able to stand outside the door while they sedated Bella and had to leave for the test. That was an incredibly hard thing for Jeff to do and I know how badly he wanted to be in there with us. I did not want him to worry anymore than he already was so I put on my "brave face"...I could hold Bella while they put in the IV and put her to sleep. Brave face or not, I was petrified!
Since this ordeal started, Jeff has always been the one to hold Bella for bloodwork, shots etc. Now it was up to me.. I wanted to be strong for Bella and I wanted to be strong for Jeff.
Bella and I went into the MRI room and they sat her on the MRI table. I was told to hold her in a hug in front of her while they put in the IV. I thought ok, I can do this, and I was doing really well. My little Bella was crying so I started to sing her favorite song.. "I love you a bushel and a peck, a bushel and a peck and a hug around the neck"..she calmed a little and the nurses even sang along...too cute. They were able to finally get the IV in, after a little struggle, and the nurse told me the anesthesia was going in...within seconds of her saying that, my daughter went limp in my arms...that was by far the worst feeling in the world. She was fully sedated and they began to get all her monitors hooked up and position her in the MRI machine.
As tears quietly streamed down my face I watched my little precious bundle lay there, still and helpless. She seemed so small. As I sat there and just watched the blanket around her chest move up and down I prayed..I knew she was ok and this was only a minor test, but my prayer was for gratitude. All I could think about were those parents who have very sick children, children in accidents and how they have had to see their children, their babies, no matter their age, on machines breathing for them and so many of them have had to make unthinkable choices. I was so grateful that Jeff and I were not going through that. We have our Bella, here and now, smiles and hugs everyday. I did allow myself the tears, after all, this is my baby, but I did not feel sorry for myself, not at all. I was even a little proud of myself, I was able to be strong for Bella and Jeff, even way out of my comfort zone.
The test was over in 45 minutes and Bella was taken to recovery so she could wake up on her own. She lay there sleeping, a little snore here and there, she looked so beautiful. My Mom and Dad were there and my Mom said "its amazing how much you can love something huh?". I couldn't have said it better. Bella woke up and gave some big stretches and even a few smiles to Mommy, Daddy, Gingie and Papa. It was over. So another worry checked off the list, another experience that has made us stronger and put in perspective our blessings and how much we have to be thankful for.
So off we went this morning. Bella's appointment was at 8am and she could not eat or drink anything after 7am. I was a bit worried because Miss Bella LIKES her food and when she doesn't have a full belly, well, lets just say she is less than happy. As I figured Bella was not in the greatest of moods while we checked in and got her ready for the test. But in Bella fashion, she was a TROOPER! And the staff at Hasbro was amazing. They have quite the operation and walked us through everything before it happened.
It was interesting to me that the entire staff that was attending to Bella were all first Pediatric Intesive Care personnel before moving over to the imaging department. That was a wonderful comfort to Jeff and I because our thoughts of course were, if anything was to happen, she is in the best place for it to be taken care of. They take such care when sedating a young child like Bella... they monitored her just as they would if she was in surgery. It really was amazing the precautions and steps they took to ensure her safety.
Both Jeff and I wanted to be with her, in the same room during the MRI, so we were screened by the MRI staff to make sure we could be due to the strength of the magnetic field surrounding the machine. Turned out that because Jeff had worked with grinding metal in the past (regardless of how many years ago) they would not let him stay for fear that if a tiny piece had lodged in his eye the magnet could move it. So Jeff was able to stand outside the door while they sedated Bella and had to leave for the test. That was an incredibly hard thing for Jeff to do and I know how badly he wanted to be in there with us. I did not want him to worry anymore than he already was so I put on my "brave face"...I could hold Bella while they put in the IV and put her to sleep. Brave face or not, I was petrified!
Since this ordeal started, Jeff has always been the one to hold Bella for bloodwork, shots etc. Now it was up to me.. I wanted to be strong for Bella and I wanted to be strong for Jeff.
Bella and I went into the MRI room and they sat her on the MRI table. I was told to hold her in a hug in front of her while they put in the IV. I thought ok, I can do this, and I was doing really well. My little Bella was crying so I started to sing her favorite song.. "I love you a bushel and a peck, a bushel and a peck and a hug around the neck"..she calmed a little and the nurses even sang along...too cute. They were able to finally get the IV in, after a little struggle, and the nurse told me the anesthesia was going in...within seconds of her saying that, my daughter went limp in my arms...that was by far the worst feeling in the world. She was fully sedated and they began to get all her monitors hooked up and position her in the MRI machine.
As tears quietly streamed down my face I watched my little precious bundle lay there, still and helpless. She seemed so small. As I sat there and just watched the blanket around her chest move up and down I prayed..I knew she was ok and this was only a minor test, but my prayer was for gratitude. All I could think about were those parents who have very sick children, children in accidents and how they have had to see their children, their babies, no matter their age, on machines breathing for them and so many of them have had to make unthinkable choices. I was so grateful that Jeff and I were not going through that. We have our Bella, here and now, smiles and hugs everyday. I did allow myself the tears, after all, this is my baby, but I did not feel sorry for myself, not at all. I was even a little proud of myself, I was able to be strong for Bella and Jeff, even way out of my comfort zone.
The test was over in 45 minutes and Bella was taken to recovery so she could wake up on her own. She lay there sleeping, a little snore here and there, she looked so beautiful. My Mom and Dad were there and my Mom said "its amazing how much you can love something huh?". I couldn't have said it better. Bella woke up and gave some big stretches and even a few smiles to Mommy, Daddy, Gingie and Papa. It was over. So another worry checked off the list, another experience that has made us stronger and put in perspective our blessings and how much we have to be thankful for.
Thursday, July 21, 2011
A Month Ago Today
It seems too unreal to me that only one month has passed since we heard the worst words ever.."she tested positive". The mind is a beautiful thing because although I know there was tremendous pain and my memory is clear as to what occurred that day, I can't actually feel the severity of it..that particular pain has dulled. So much has happened in four weeks.. I feel 10 years older and whole lot weary. Yet my daughter gives me the strength to get out of bed everyday. Bella has been on her anti-seizure medication a little over a month and I have to believe that all the progress we have seen is attributed to it working. Her little victories give us so much hope. Without hope I don't know what we would do.
In the past 4 weeks I, along with my family and friends, have cried, prayed, laughed, loved, feared, yelled and screamed. So many emotions, so many days of "what's next?". I find that to be the hardest thing right now.. living day in and day out with the "unknown". Sometimes I think it may be a blessing since I can stay in the moment without projecting and dwelling on the bad stuff. Not to say I am really good at that... there are moments when I let that speed train take me to places I really don't want to be. But I am reminded by my husband to stop, get off the train and enjoy each day with Bella in the place we are at right now.
If I am being honest there are days when I am just tired of being positive and I want to just cry with self pity. There are days and moments when I am just plain angry. Why my daughter?? Why my beautiful, sweet, innocent daughter? I want so much for her, I want her to have all the joys that life offers to everyone else's daughter. I don't want her to struggle and feel pain and have to fight overwhelming fights. I dream sometimes that I find her standing up in her crib smiling at me. I dream sometimes of her saying "Hi Mommy!". Faith is such a hard thing. I always felt I had faith and I have always believed things happen for a reason. But I am at a loss with this.. what reason could there be for this? What reason would make sense that my daughter may never walk or talk?
I often feel a tremendous pressure to remain "up" and "Positive" for those around me. It hurts too much to see my family and friends worry and hurt over this. We all have so much to carry that I don't want to be an extra burden to them. So instead, I write these words to release some of it.
I was also reminded yesterday by two very very special women in my life that I can turn to them and say exactly what it is I am feeling. Often hard for me because I don't like asking for help, never my strong suit..most often to my detriment. So I promised them I would reach out on those black days and I am going to work at doing just that.
Ahhh.. ok, enough about me... let's re-cap on my Angel's progress:
Bella has made tremendous progress with physical therapy as we have seen her really making strides with pulling up to her knees, pushing forward with her feet on a little bike, and a new development... she was standing leaning against the couch and she reached down with her hands to the floor and used them to help her sit. She would just kind of plop down and let gravity do its job in the past. My thought is that if she can figure that out, the next step will be the reverse... using her hands to help her UP!
Bella has gained 2lbs since her last doctor visit and that is wonderful news. The more weight she can gain, the stronger she will be. She has this insane appetite lately and I am hoping that it continues. We need a good 6-7 more pounds to get her where she should be. So bring on the meatballs!
Bella's speech still seems to be the slowest progress... but I have read that when children develop they usually work on one thing at a time, like gross motor skills versus speech. So we have seen so much progress with her physically perhaps we just need to be patient with the speech part.
We are making our list of questions for the team in Boston and I invite anyone who has questions after observing Bella to post them to me, or email me etc. I value everyone's opinion and truly believe "It takes a Village".
I know some of you have had trouble posting a comment. What this "free" blog doesn't tell you is that when you get to this site, in order to post a comment, you need to sign in. There is a sign in option up at the top and it requires you to sign in with a "gmail" account. Gmail is free so if you want to post you can simply create a gmail account you can use just for this. Or if you already have a gmail account you can sign in using that email address and your password for gmail. If you simply start typing without signing in, it won't let you post.
Looking back over this month I will tell you one thing... we have some amazing people in our lives. It amazes me the outpouring of love and support we have received. It has become so clear to us how special all of you are that have taken time out of your busy lives to offer your friendship, love and prayers. Your kindness has eased our pain and dried our tears and the gratitude we feel can never be expressed. It is my hope that you will somehow know what it means to us. Bella has given me a special gift.. she has reminded me of something I had started to forget, this world is full of caring and beautiful people.
So I look back at this surreal month and put it behind me, and I look forward to bright, hopeful days. I will take whatever comes, look it in the eye and say "you have no idea who you are messing with.. have you seen the people behind Bella? You haven't got a chance"
In the past 4 weeks I, along with my family and friends, have cried, prayed, laughed, loved, feared, yelled and screamed. So many emotions, so many days of "what's next?". I find that to be the hardest thing right now.. living day in and day out with the "unknown". Sometimes I think it may be a blessing since I can stay in the moment without projecting and dwelling on the bad stuff. Not to say I am really good at that... there are moments when I let that speed train take me to places I really don't want to be. But I am reminded by my husband to stop, get off the train and enjoy each day with Bella in the place we are at right now.
If I am being honest there are days when I am just tired of being positive and I want to just cry with self pity. There are days and moments when I am just plain angry. Why my daughter?? Why my beautiful, sweet, innocent daughter? I want so much for her, I want her to have all the joys that life offers to everyone else's daughter. I don't want her to struggle and feel pain and have to fight overwhelming fights. I dream sometimes that I find her standing up in her crib smiling at me. I dream sometimes of her saying "Hi Mommy!". Faith is such a hard thing. I always felt I had faith and I have always believed things happen for a reason. But I am at a loss with this.. what reason could there be for this? What reason would make sense that my daughter may never walk or talk?
I often feel a tremendous pressure to remain "up" and "Positive" for those around me. It hurts too much to see my family and friends worry and hurt over this. We all have so much to carry that I don't want to be an extra burden to them. So instead, I write these words to release some of it.
I was also reminded yesterday by two very very special women in my life that I can turn to them and say exactly what it is I am feeling. Often hard for me because I don't like asking for help, never my strong suit..most often to my detriment. So I promised them I would reach out on those black days and I am going to work at doing just that.
Ahhh.. ok, enough about me... let's re-cap on my Angel's progress:
Bella has made tremendous progress with physical therapy as we have seen her really making strides with pulling up to her knees, pushing forward with her feet on a little bike, and a new development... she was standing leaning against the couch and she reached down with her hands to the floor and used them to help her sit. She would just kind of plop down and let gravity do its job in the past. My thought is that if she can figure that out, the next step will be the reverse... using her hands to help her UP!
Bella has gained 2lbs since her last doctor visit and that is wonderful news. The more weight she can gain, the stronger she will be. She has this insane appetite lately and I am hoping that it continues. We need a good 6-7 more pounds to get her where she should be. So bring on the meatballs!
Bella's speech still seems to be the slowest progress... but I have read that when children develop they usually work on one thing at a time, like gross motor skills versus speech. So we have seen so much progress with her physically perhaps we just need to be patient with the speech part.
We are making our list of questions for the team in Boston and I invite anyone who has questions after observing Bella to post them to me, or email me etc. I value everyone's opinion and truly believe "It takes a Village".
I know some of you have had trouble posting a comment. What this "free" blog doesn't tell you is that when you get to this site, in order to post a comment, you need to sign in. There is a sign in option up at the top and it requires you to sign in with a "gmail" account. Gmail is free so if you want to post you can simply create a gmail account you can use just for this. Or if you already have a gmail account you can sign in using that email address and your password for gmail. If you simply start typing without signing in, it won't let you post.
Looking back over this month I will tell you one thing... we have some amazing people in our lives. It amazes me the outpouring of love and support we have received. It has become so clear to us how special all of you are that have taken time out of your busy lives to offer your friendship, love and prayers. Your kindness has eased our pain and dried our tears and the gratitude we feel can never be expressed. It is my hope that you will somehow know what it means to us. Bella has given me a special gift.. she has reminded me of something I had started to forget, this world is full of caring and beautiful people.
So I look back at this surreal month and put it behind me, and I look forward to bright, hopeful days. I will take whatever comes, look it in the eye and say "you have no idea who you are messing with.. have you seen the people behind Bella? You haven't got a chance"
Friday, July 15, 2011
So many Ups and a few downs...
Finally, a moment to write...it feels good. Makes me realize how much writing these words helps me. As much as I want it to be a source for friends and family to follow Bella's journey it is serving a dual purpose...it helps this Mom out..a lot. It amazes me how much has happened in the days following Bella's diagnosis. It has not even been a month and trust me when I tell you, it feels like it has been 10 years. I actually thought about that the other day and really could not comprehend the fact that its only been 3 1/2 weeks.
Well let's get to the UPs... Bella had a wonderful PT appointment in the pool early in the week. Now as you know from reading, Bella has been less than happy during her sessions. But this past week in the pool she was OUR Bella..smiling, happy and doing really well. I laughed and said to her therapist.. "Bill, meet Bella". He jokingly responded "Hi Bella, I'm Bill". Now it may be a fluke, who knows..but it sure was enjoyable.
Bella has consistently been up extended on her knees, pulling up on the couch and coffee table and window sills. She reaches for things out of her reach and makes a real effort at it. I am starting to feel like she has the "desire" now. Something she seemed not to have before.
Now here is the big ONE, so get ready... we had bought Zackary a mini ball pit (inflatable) like the ones at arcades, for his birthday. So Bella was sitting in it and started to try to get out.. she wanted a book that was on the floor outside of the ball pit. She got up on her knees and started stretching for the book, which was quickly pushed a bit further out of her reach by a very smart Miss Jen..so Bella kept trying and trying. First getting one leg up on the rim and wiggling. The poor Angel tried for about 10 minutes but DID NOT GIVE UP until she got both legs up on the rim and shimmied out!!!! Now the physical aspect of that is huge no doubt, but for me, what really got me was that she didn't give up. She was not content to stay in a place she did not want to be. In the past she would have given up and just sat there until someone got her out. This was a very MOMENTOUS occasion and something HUGE to celebrate! Another big leap for our girl.
Now as if that was not enough for one day.. she also accomplished another big feat.. she drank from a tiny straw in a juice box. Bella, like many Retts girls, has had a very difficult time with chewing, swallowing, and sucking. She was so proud and happy when she got the juice out. That sure was a lot for one day!!
Its these successes that keep us going. Because to be honest, its not always all "good stuff". There are so many worries, on a daily basis. Very shortly after she started her medicine she had stopped grinding her teeth but over this week it has started up again. In addition she has started to hit herself by very quickly hitting her hand to her forehead. When I see her do it, my heart breaks... is she doing it out of frustration? Is it an uncontrollable reflex? Does she do it because she has a pain in her head? It is scaring me and I am anxious to talk to her doctor about it.
We are still at a standstill with her speech. Not much change. She will make sounds every now and then but no solid words. I am desperate to hear her say something, anything. Its probably selfish but I long to hear her say "I love you Mommy". For now however, her laugh is is the BEST medicine.
She had a tough week with her stomach..she had a few days where I could tell that she was very uncomfortable and had a belly ache. She gets very frustrated when she does not feel well because she is smart enough to know whats wrong but cannot tell me. See, that is the difference between an infant not talking and Bella not talking.. she knows. She will often throw her head down in her lap or against me in exhaustion from what I think is trying to communicate what is bothering her. It kills me. I keep trying to reassure her that we will find a way to communicate but I don't know if she believes me.. LOL!!
Bedtime is still a bit of a struggle with Bella fighting sleep for at least a few hours, but she seems to be getting to sleep a bit quicker than in the past.
We received a telephone call today from Children's Hospital in Boston, their Retts Department and Bella has an appointment in three weeks! She will be seen by the doctor doing the research that is on the edge of a breakthrough to having the cure! We are so anxious to have her seen there and to see what else we can be doing for her. This center is cutting edge and one of the best in the nation and we are so blessed to have it in our backyard. So I am logging all my questions and hopefully will have some guidance soon. The center has doctors that specialize in all of the issues above, gastro for her belly, sleep, speech, etc etc.. I wish the appointment was tomorrow.
But for now, its Friday night, my babies are quiet and I am going to spend time with the most wonderful husband a woman could ever have. Thanks for reading and please, if I may ask, keep the prayers coming.
I would love to find ways to help her sleep
Well let's get to the UPs... Bella had a wonderful PT appointment in the pool early in the week. Now as you know from reading, Bella has been less than happy during her sessions. But this past week in the pool she was OUR Bella..smiling, happy and doing really well. I laughed and said to her therapist.. "Bill, meet Bella". He jokingly responded "Hi Bella, I'm Bill". Now it may be a fluke, who knows..but it sure was enjoyable.
Bella has consistently been up extended on her knees, pulling up on the couch and coffee table and window sills. She reaches for things out of her reach and makes a real effort at it. I am starting to feel like she has the "desire" now. Something she seemed not to have before.
Now here is the big ONE, so get ready... we had bought Zackary a mini ball pit (inflatable) like the ones at arcades, for his birthday. So Bella was sitting in it and started to try to get out.. she wanted a book that was on the floor outside of the ball pit. She got up on her knees and started stretching for the book, which was quickly pushed a bit further out of her reach by a very smart Miss Jen..so Bella kept trying and trying. First getting one leg up on the rim and wiggling. The poor Angel tried for about 10 minutes but DID NOT GIVE UP until she got both legs up on the rim and shimmied out!!!! Now the physical aspect of that is huge no doubt, but for me, what really got me was that she didn't give up. She was not content to stay in a place she did not want to be. In the past she would have given up and just sat there until someone got her out. This was a very MOMENTOUS occasion and something HUGE to celebrate! Another big leap for our girl.
Now as if that was not enough for one day.. she also accomplished another big feat.. she drank from a tiny straw in a juice box. Bella, like many Retts girls, has had a very difficult time with chewing, swallowing, and sucking. She was so proud and happy when she got the juice out. That sure was a lot for one day!!
Its these successes that keep us going. Because to be honest, its not always all "good stuff". There are so many worries, on a daily basis. Very shortly after she started her medicine she had stopped grinding her teeth but over this week it has started up again. In addition she has started to hit herself by very quickly hitting her hand to her forehead. When I see her do it, my heart breaks... is she doing it out of frustration? Is it an uncontrollable reflex? Does she do it because she has a pain in her head? It is scaring me and I am anxious to talk to her doctor about it.
We are still at a standstill with her speech. Not much change. She will make sounds every now and then but no solid words. I am desperate to hear her say something, anything. Its probably selfish but I long to hear her say "I love you Mommy". For now however, her laugh is is the BEST medicine.
She had a tough week with her stomach..she had a few days where I could tell that she was very uncomfortable and had a belly ache. She gets very frustrated when she does not feel well because she is smart enough to know whats wrong but cannot tell me. See, that is the difference between an infant not talking and Bella not talking.. she knows. She will often throw her head down in her lap or against me in exhaustion from what I think is trying to communicate what is bothering her. It kills me. I keep trying to reassure her that we will find a way to communicate but I don't know if she believes me.. LOL!!
Bedtime is still a bit of a struggle with Bella fighting sleep for at least a few hours, but she seems to be getting to sleep a bit quicker than in the past.
We received a telephone call today from Children's Hospital in Boston, their Retts Department and Bella has an appointment in three weeks! She will be seen by the doctor doing the research that is on the edge of a breakthrough to having the cure! We are so anxious to have her seen there and to see what else we can be doing for her. This center is cutting edge and one of the best in the nation and we are so blessed to have it in our backyard. So I am logging all my questions and hopefully will have some guidance soon. The center has doctors that specialize in all of the issues above, gastro for her belly, sleep, speech, etc etc.. I wish the appointment was tomorrow.
But for now, its Friday night, my babies are quiet and I am going to spend time with the most wonderful husband a woman could ever have. Thanks for reading and please, if I may ask, keep the prayers coming.
I would love to find ways to help her sleep
Sunday, July 10, 2011
Making Friends....
I believe that today was a perfect 10 beach day. We packed up the kids, (we seem to be getting pretty good at our beach routine) and were out the door and on the beach by 11am. Miss Bella was very animated today, much different than yesterday when she seemed more quiet and a bit more of an observer rather than a participant. Today Bella was very interactive and very much on the move.. literally. She was up on her knees, using the Dig-It Beach Umbrella (best beach umbrella in the world.. google it) for support. She had one hand on the umbrella pole and pulled herself up so she was fully extended on her knees...and here is the best part she was ALL smiles and oh so proud of herself. Then with Daddy's help she stood holding the back of a beach chair and bounced and danced to Poppi's IPOD. Again, all smiles. It was the first time I could see the desire in her to stand and want to be upright. I felt like maybe something is "clicking" inside and she realizes she can do it and maybe some of her frustration eased.
Its so nice these days at the beach because both Bella and Zack are more independent than they were when they were infants. There are many times when they will just sit together on the blanket under the umbrella and just play. I love to watch them both and especially enjoy watching Bella "play". She is doing a whole lot more of that these days. Today she even took a straw from my ice coffee and waved it around laughing..again, a little thing but she never really "pretended" or played like that.
As I am watching her I see her looking over at our dear friend Donna as she relaxed and read her book, Bella watched Donna and then started to scoot.. a little scoot at a time till she made her way into Donna's lap. This type of interaction is a big accomplishment for Bella.
Then came another biggie.. not far from our spot on the beach were three little girls, probably about 6 or 7 years old, sitting in the sand. I am watching Bella observe these little girls when all of a sudden she is on the move.. scooting over and ultimately crashing their circle! It was just about the cutest thing I have ever seen. I wish I could describe the look on Bella's face.. I don't think I can do it justice. She was just so happy. She showed no fear and went right up to each little girl, even trying to give one girl a kiss and trying to "smell" the flowers on the other's little dress.
Now since these were "older" girls I am not sure if they quite knew what to make of our Bella busting in on their turf..one of the little girls asked me how old she was and I told her 2.. and then in the sweetest of ways she said "Doesn't she talk yet?" Simple, innocent and appropriate question for sure..yet as I stood there and said "No, not yet"...a flood of emotion swelled up and took my breathe away. I held back my tears just long enough to see Bella decide she had had enough and scoot back towards our beach family...home turf.
As I returned to my chair with everyone saying how awesome that was to watch and genuinely sharing in Bella's litle social triumph, the tears came. So I got up and took a quick walk to compose myself.
It was like in that split second my mind flashed forward like a movie reel with frames of future moments like that... it reminded me of a quote I read on another blog by a mother with a Retts Angel.. it said "Before I had my daughter I thought I would have to explain the world to her, now I have to explain my daughter to the world". As happy as I was to see Bella adventuring over to those little girls, I felt instant fear and wanted to protect her. I couldn't bear to see her hurt or left out. I know I am not alone on that as I am sure every mother feels that way..but it just hit me that Bella is going to face some different challenges and I can't bear the world being unkind to her.
So I let the tears fall, briefly, caught my breathe and shook it off. I was reminded by another dear friend that today was a day for celebration...celebrating Bella's accomplishments. Ahh good advice thanks Sharon. So once again I was reminded about how thankful I am for all the love that surrounds Bella..we could not be more lucky. Who else but Bella gets a collective "I love you" in sign language from the most amazing group of people encircling her, protecting her. Another precious moment for me to realize, its going to be okay...its all going to be ok.
Its so nice these days at the beach because both Bella and Zack are more independent than they were when they were infants. There are many times when they will just sit together on the blanket under the umbrella and just play. I love to watch them both and especially enjoy watching Bella "play". She is doing a whole lot more of that these days. Today she even took a straw from my ice coffee and waved it around laughing..again, a little thing but she never really "pretended" or played like that.
As I am watching her I see her looking over at our dear friend Donna as she relaxed and read her book, Bella watched Donna and then started to scoot.. a little scoot at a time till she made her way into Donna's lap. This type of interaction is a big accomplishment for Bella.
Then came another biggie.. not far from our spot on the beach were three little girls, probably about 6 or 7 years old, sitting in the sand. I am watching Bella observe these little girls when all of a sudden she is on the move.. scooting over and ultimately crashing their circle! It was just about the cutest thing I have ever seen. I wish I could describe the look on Bella's face.. I don't think I can do it justice. She was just so happy. She showed no fear and went right up to each little girl, even trying to give one girl a kiss and trying to "smell" the flowers on the other's little dress.
Now since these were "older" girls I am not sure if they quite knew what to make of our Bella busting in on their turf..one of the little girls asked me how old she was and I told her 2.. and then in the sweetest of ways she said "Doesn't she talk yet?" Simple, innocent and appropriate question for sure..yet as I stood there and said "No, not yet"...a flood of emotion swelled up and took my breathe away. I held back my tears just long enough to see Bella decide she had had enough and scoot back towards our beach family...home turf.
As I returned to my chair with everyone saying how awesome that was to watch and genuinely sharing in Bella's litle social triumph, the tears came. So I got up and took a quick walk to compose myself.
It was like in that split second my mind flashed forward like a movie reel with frames of future moments like that... it reminded me of a quote I read on another blog by a mother with a Retts Angel.. it said "Before I had my daughter I thought I would have to explain the world to her, now I have to explain my daughter to the world". As happy as I was to see Bella adventuring over to those little girls, I felt instant fear and wanted to protect her. I couldn't bear to see her hurt or left out. I know I am not alone on that as I am sure every mother feels that way..but it just hit me that Bella is going to face some different challenges and I can't bear the world being unkind to her.
So I let the tears fall, briefly, caught my breathe and shook it off. I was reminded by another dear friend that today was a day for celebration...celebrating Bella's accomplishments. Ahh good advice thanks Sharon. So once again I was reminded about how thankful I am for all the love that surrounds Bella..we could not be more lucky. Who else but Bella gets a collective "I love you" in sign language from the most amazing group of people encircling her, protecting her. Another precious moment for me to realize, its going to be okay...its all going to be ok.
Saturday, July 9, 2011
Another Week Over
I don't know about anyone else but these weeks seem to be flying by...in a blur for me. Each week is similar to the last, physical therapy twice a week, Early Intervention once a week and much awaited beach days on the weekend. Each day is filled with juggling work, appointments and reminding myself to breathe. Sometimes it is overwhelming and I find that the day has gone and I haven't eaten lunch or stopped running until bedtime. This isn't much different than anyone else's schedule I know and I am sure I am not alone when I just don't know how to get it all under control and organized.
Bella is my priority yet I have another child, a business and a household to keep up. I want to be the best at each of those but the reality is, I fall short. Sometimes at work I look at the things I need to complete and I just feel like it is so unimportant in comparison to the needs of my daughter but that is not entirely the case, lets face it, unless I become independently wealthy (unlikely since I don't even buy lottery tickets) I have to work along side my very hardworking husband, and I have to be successful at it to provide the things I want my children to have.
I also want to be at Bella's appointments. I have so many offers of help where people will offer to take Bella to physical therapy so I don't have to leave work, but I just can't do that. I need to be there with her, I need to go through each and every thing I expect my 2 year old angel to go through. I don't want her looking around asking "where is my mom?" And let me tell you physical therapy appointments are NO FUN.. Bella dislikes it, no, let's call it like it is... Bella HATES it. As soon as she gets in the building she starts to cry. And as soon as she starts her session she screams, and screams and yup... screams until its over. Her therapist believes she is frustrated, which I do agree with but I want so much for her to use these sessions to the fullest, I feel her fighting it is going to set her back. Its a constant feeling of "beat the clock" for me, like there is no time to waste. She is making progress but it is slow.. almost painfully slow. We have been told she is getting stronger through her hips and that it takes much less facilitation from her therapist to do some of her "work out".
Upon the suggestion of a family friend I asked her therapist about the possibility of a "walker". Bella is too big for the baby walkers they sell in the stores but I was told of a piece of equipment called "Kid Walk". It is a medical device that is used by kids who aren't walking due to a medical condition. Bella's therapist is going to get one in and we are going to try her in it.. I am hoping it will be something she likes. I would love for her to get the feeling of independently "walking" and moving around. I think she is tired of sitting, I know I would be. Her therapist also believes her frustration comes from the inability to communicate to him how she is feeling during her session. I can understand that..so he is going to consult with some speech/communication colleagues to find some ways to communicate with Bella. Perhaps picture boards which she can point or tap to show him what it is that is going on with her.
Early Intervention went better this week, she was very interactive and did a lot imitating sounds and actions (patting, some sign language). I still feel like there should be something more substantial with her speech therapy and I am not sure I am all that satisfied on that front. I am anxious to go to Boston to see what else is out there. I just feel like currently they really aren't doing much more than we already do as her parents and family.
Speaking of Boston, I called the center and had to leave a message, that was Thursday, didn't hear back Friday so I will call everyday next week until I get someone so we can get an appointment. I have a feeling that it is not going to be that easy or quick to get in there.
I have a lot of high hopes for Boston, maybe too high. I know there is no miracle cure right now but I just feel like we will get more progress with what they offer.. who knows?
We had another wonderful day at the beach today. Bella and Zack had a ball, as usual. Bella ate ALL day. That is something else we have noticed a change in.. her appetite is wonderful. She rarely says no to food and I truly believe she has gained some decent weight. She even has "chunky" little thighs.
She has also been very happy.. very, very smiley and that warms my heart. When she was going through what I believe was her "regression" period.. it was so awful, there was such a void when you looked at her or tried to interact with her. I am so thankful that period is over..for better or worse..she is our happy little ray of sunshine again. And for that I am grateful.
We still have our sleep issues... as I write she is up in her crib fussing and fighting sleep. I need to ask the doctors about that for sure..that is something I really want to get a handle on. She so needs her rest so she can stay strong and fight through whatever is in front of her.
So another week is over and another one is ahead.. that is the way of things. So I take a deep breathe and push on forward.. one day at at time.
Bella is my priority yet I have another child, a business and a household to keep up. I want to be the best at each of those but the reality is, I fall short. Sometimes at work I look at the things I need to complete and I just feel like it is so unimportant in comparison to the needs of my daughter but that is not entirely the case, lets face it, unless I become independently wealthy (unlikely since I don't even buy lottery tickets) I have to work along side my very hardworking husband, and I have to be successful at it to provide the things I want my children to have.
I also want to be at Bella's appointments. I have so many offers of help where people will offer to take Bella to physical therapy so I don't have to leave work, but I just can't do that. I need to be there with her, I need to go through each and every thing I expect my 2 year old angel to go through. I don't want her looking around asking "where is my mom?" And let me tell you physical therapy appointments are NO FUN.. Bella dislikes it, no, let's call it like it is... Bella HATES it. As soon as she gets in the building she starts to cry. And as soon as she starts her session she screams, and screams and yup... screams until its over. Her therapist believes she is frustrated, which I do agree with but I want so much for her to use these sessions to the fullest, I feel her fighting it is going to set her back. Its a constant feeling of "beat the clock" for me, like there is no time to waste. She is making progress but it is slow.. almost painfully slow. We have been told she is getting stronger through her hips and that it takes much less facilitation from her therapist to do some of her "work out".
Upon the suggestion of a family friend I asked her therapist about the possibility of a "walker". Bella is too big for the baby walkers they sell in the stores but I was told of a piece of equipment called "Kid Walk". It is a medical device that is used by kids who aren't walking due to a medical condition. Bella's therapist is going to get one in and we are going to try her in it.. I am hoping it will be something she likes. I would love for her to get the feeling of independently "walking" and moving around. I think she is tired of sitting, I know I would be. Her therapist also believes her frustration comes from the inability to communicate to him how she is feeling during her session. I can understand that..so he is going to consult with some speech/communication colleagues to find some ways to communicate with Bella. Perhaps picture boards which she can point or tap to show him what it is that is going on with her.
Early Intervention went better this week, she was very interactive and did a lot imitating sounds and actions (patting, some sign language). I still feel like there should be something more substantial with her speech therapy and I am not sure I am all that satisfied on that front. I am anxious to go to Boston to see what else is out there. I just feel like currently they really aren't doing much more than we already do as her parents and family.
Speaking of Boston, I called the center and had to leave a message, that was Thursday, didn't hear back Friday so I will call everyday next week until I get someone so we can get an appointment. I have a feeling that it is not going to be that easy or quick to get in there.
I have a lot of high hopes for Boston, maybe too high. I know there is no miracle cure right now but I just feel like we will get more progress with what they offer.. who knows?
We had another wonderful day at the beach today. Bella and Zack had a ball, as usual. Bella ate ALL day. That is something else we have noticed a change in.. her appetite is wonderful. She rarely says no to food and I truly believe she has gained some decent weight. She even has "chunky" little thighs.
She has also been very happy.. very, very smiley and that warms my heart. When she was going through what I believe was her "regression" period.. it was so awful, there was such a void when you looked at her or tried to interact with her. I am so thankful that period is over..for better or worse..she is our happy little ray of sunshine again. And for that I am grateful.
We still have our sleep issues... as I write she is up in her crib fussing and fighting sleep. I need to ask the doctors about that for sure..that is something I really want to get a handle on. She so needs her rest so she can stay strong and fight through whatever is in front of her.
So another week is over and another one is ahead.. that is the way of things. So I take a deep breathe and push on forward.. one day at at time.
Tuesday, July 5, 2011
Bella and the Beach
Before Bella was born, Jeff and I had a plan that our children were going to join our life and all the things we loved in it! Although we were somewhat naive about how our schedule would not budge and our children would simply fall in without protest, we have done our darndest to stick to it. Bella was born on June 18th and was on the beach at Bonnet Shores within a week of us bringing her home. She was such a good, calm baby that she actually did fall right into our long, lazy days at the beach. But don't worry, Zackary has snapped us back into reality!
Little did we know that being a docile, calm baby would later fit as a symptom of Retts Syndrome.
But I digress...from those first days up to yesterday, the beach has been Bella's favorite place. She absolutely loves being there. Whether it's the warm salt air or calming ocean noise, the beach does something magical to Bella.
It never seems to fail, as soon as we pull into the parking lot and unbuckle her out of her car seat, it's an instant smile. Yesterday we actually set a record and got out of the house at 9:30 and set our toes in the sand shortly after 10am! I kid you not, Bella left the beach after 5pm!
As I have previously written about, we have seen precious moments of progress with Bella, which has given us all such hope. While only on her medication for three weeks the progress we have seen is remarkable to us. Of course the hazard with this is me expecting the medication to be like some kind of magical light switch that when flipped will have my Bella walking miles and quoting Shakespeare. It is once again a lesson for me in patience and taking one day at a time....because, it just doesn't work that way. I have felt a slow down in the progress over the last few days, Bella was quiet again, perhaps if only from my somewhat warped perspective. And of course my nerves went into overdrive...was this it? Will the medicine not work? Fear set in and grabbed me around the neck.
But then, yesterday, with the sun shining so bright, Miss Bella surprised me once again...while sitting with Poppi, her bum on the beach chair and legs dangling onto the sand, Bella started kicking the sand up with her feet! Now I know it may be hard to understand the "hugeness" of that simple move...but for us to see that from Bella, it nearly made me cry.
And she didn't stop there...Bella has always had a hard time biting and chewing food and would instead put a much too large piece of food in her mouth. This was another warning sign to me that she just couldn't master that skill. So I have been paranoid with not giving her whole crackers, pieces of bread etc. One of Bella's favorite snacks are Veggie sticks...I have given them to her in pieces as she was not able to eat the whole stick properly without the risk of choking. Well yesterday, right before my eyes, Bella took a whole veggie stick, bit it into a bite size and continued until it was gone!!! I nearly passed out with happiness. I truly can't and wish I could explain what seeing that is like. And then to top it off, she took the veggie stick, snapped it in half and put ONE of the pieces in her mouth. Forget fireworks, that was the sight to see for me this Fourth of July.
And once again, I am reminded that it's the little things, the almost unnoticeable things, that matter most in this life, not just with our Bella, but with everything around us. Thank you Bella, for that gift, among the countless others you give me daily.
Little did we know that being a docile, calm baby would later fit as a symptom of Retts Syndrome.
But I digress...from those first days up to yesterday, the beach has been Bella's favorite place. She absolutely loves being there. Whether it's the warm salt air or calming ocean noise, the beach does something magical to Bella.
It never seems to fail, as soon as we pull into the parking lot and unbuckle her out of her car seat, it's an instant smile. Yesterday we actually set a record and got out of the house at 9:30 and set our toes in the sand shortly after 10am! I kid you not, Bella left the beach after 5pm!
As I have previously written about, we have seen precious moments of progress with Bella, which has given us all such hope. While only on her medication for three weeks the progress we have seen is remarkable to us. Of course the hazard with this is me expecting the medication to be like some kind of magical light switch that when flipped will have my Bella walking miles and quoting Shakespeare. It is once again a lesson for me in patience and taking one day at a time....because, it just doesn't work that way. I have felt a slow down in the progress over the last few days, Bella was quiet again, perhaps if only from my somewhat warped perspective. And of course my nerves went into overdrive...was this it? Will the medicine not work? Fear set in and grabbed me around the neck.
But then, yesterday, with the sun shining so bright, Miss Bella surprised me once again...while sitting with Poppi, her bum on the beach chair and legs dangling onto the sand, Bella started kicking the sand up with her feet! Now I know it may be hard to understand the "hugeness" of that simple move...but for us to see that from Bella, it nearly made me cry.
And she didn't stop there...Bella has always had a hard time biting and chewing food and would instead put a much too large piece of food in her mouth. This was another warning sign to me that she just couldn't master that skill. So I have been paranoid with not giving her whole crackers, pieces of bread etc. One of Bella's favorite snacks are Veggie sticks...I have given them to her in pieces as she was not able to eat the whole stick properly without the risk of choking. Well yesterday, right before my eyes, Bella took a whole veggie stick, bit it into a bite size and continued until it was gone!!! I nearly passed out with happiness. I truly can't and wish I could explain what seeing that is like. And then to top it off, she took the veggie stick, snapped it in half and put ONE of the pieces in her mouth. Forget fireworks, that was the sight to see for me this Fourth of July.
And once again, I am reminded that it's the little things, the almost unnoticeable things, that matter most in this life, not just with our Bella, but with everything around us. Thank you Bella, for that gift, among the countless others you give me daily.
Sunday, July 3, 2011
Fourth of July and Beyond
Well here it is July 4th weekend already. It constantly amazes me how time is flying. We had a wonderful birthday celebration for Zackary's 1st Birthday yesterday! My wonderful husband shared his birthday with Zack as well as Jeff's Uncle Joe...so we weren't in short supply for reasons to enjoy the day.
Bella had taken a great nap right before the party started which was so lucky since I was worried how she would do with lack of sleep. Lately I notice Bella's apprehension with larger crowds. While I believe she loves being around people I am seeing her get nervous and overwhelmed by a lot of stimulation. She will get quiet and I notice her clasping her hands more. Yet when she is in a smaller crowd she will interact more and relax. Now here is the kicker...this could very well be normal 2 year old behavior, but this is what is so hard for us...how do we know the difference?? So I tend to be cautious...maybe if we weren't faced with this challenge I would push her more, but I find myself in protection mode with her.
One of the many great moments of the day came when Zackary was given his piece of birthday cake...we all waited for the wild destruction of that yummy cake by our son..not so much..apparently Zacky is not too fond of getting his hands dirty!! BUT guess who stole the show???!! Our Bella!!!!! She proceeded to finger paint with Zack's piece of cake and had a ball and those moments are priceless!
So what's next on Bella's journey?? We have an MRI scheduled for July 25th. We are not looking forward to having her sedated but our neurologist needs to get this test checked off the list.
We have also decided that we are going to take Bella to Boston's Children's Hospital to be seen by their Retts Department...more on that to follow as we get more details.
Wishing everyone a safe and Happy Fourth.
Bella had taken a great nap right before the party started which was so lucky since I was worried how she would do with lack of sleep. Lately I notice Bella's apprehension with larger crowds. While I believe she loves being around people I am seeing her get nervous and overwhelmed by a lot of stimulation. She will get quiet and I notice her clasping her hands more. Yet when she is in a smaller crowd she will interact more and relax. Now here is the kicker...this could very well be normal 2 year old behavior, but this is what is so hard for us...how do we know the difference?? So I tend to be cautious...maybe if we weren't faced with this challenge I would push her more, but I find myself in protection mode with her.
One of the many great moments of the day came when Zackary was given his piece of birthday cake...we all waited for the wild destruction of that yummy cake by our son..not so much..apparently Zacky is not too fond of getting his hands dirty!! BUT guess who stole the show???!! Our Bella!!!!! She proceeded to finger paint with Zack's piece of cake and had a ball and those moments are priceless!
So what's next on Bella's journey?? We have an MRI scheduled for July 25th. We are not looking forward to having her sedated but our neurologist needs to get this test checked off the list.
We have also decided that we are going to take Bella to Boston's Children's Hospital to be seen by their Retts Department...more on that to follow as we get more details.
Wishing everyone a safe and Happy Fourth.
Friday, July 1, 2011
Early Intervention
It's been a few days since I have written..been a busy few days. We now have a ONE year old toddling around our house..Zackary's birthday was June 30th and we are getting ready for his birthday celebration tomorrow! Bella has been enjoying the festivities and I know she will be all smiles tomorrow with all her family and friends around her. We are so looking forward to being surrounded by those we love and who have been so supportive. It will be a welcome distraction from our tough days and worry.
Now an update on our Angel... Bella had a session with her Early Intervention therapist, Ann. As soon as Ann walked in the door Bella looked at me with apprehension and began to cry. It amazes me how she only met Ann once or twice before but knows that she is not simply a visitor there to hang out but that she is there to make Miss Bella work! I started to worry this would be much like her PT sessions where she screams in protest the whole time. Fortunately Ann had some fun books which caught Bella's attention. She settled down and began to interact nicely with Ann. Ann is working with Bella on communication and spent the session trying to get her to mimic sounds, and physical movements such as patting and even worked on some sign language for "more" "all done" and "thank you". Bella responded well and sounded out "pa" for pat and did the sign for "more".
We will continue to work on those between sessions as it will ease some of our mutual frustration. I am hopeful about these sessions and pray for more ways to learn to help our baby girl.
It's been a tough week for Bella and sleep which comes with Rett Syndrome territory. Each night this week it seems Bella has been incredibly irritable and inconsolable around bedtime. So we go off to bed which seems to make her happy...but very shortly thereafter she is up...first crying, then screaming, then playing. Last night this went on from 7pm to 1:30am. I have tried everything...milk, music, letting her work it out...nothing helps and now I somewhat dread bedtime. I just know how she needs her rest to be strong and I fear she isn't getting enough. She wouldn't even nap today after that late night. I have read many similar stories with other Retts Angels and I am afraid we may be in for this for a while. Something to discuss for sure next doctor visit.
Other than that we are plugging along, taking one day at a time, loving our daughter and son more than life itself and praying.
Now an update on our Angel... Bella had a session with her Early Intervention therapist, Ann. As soon as Ann walked in the door Bella looked at me with apprehension and began to cry. It amazes me how she only met Ann once or twice before but knows that she is not simply a visitor there to hang out but that she is there to make Miss Bella work! I started to worry this would be much like her PT sessions where she screams in protest the whole time. Fortunately Ann had some fun books which caught Bella's attention. She settled down and began to interact nicely with Ann. Ann is working with Bella on communication and spent the session trying to get her to mimic sounds, and physical movements such as patting and even worked on some sign language for "more" "all done" and "thank you". Bella responded well and sounded out "pa" for pat and did the sign for "more".
We will continue to work on those between sessions as it will ease some of our mutual frustration. I am hopeful about these sessions and pray for more ways to learn to help our baby girl.
It's been a tough week for Bella and sleep which comes with Rett Syndrome territory. Each night this week it seems Bella has been incredibly irritable and inconsolable around bedtime. So we go off to bed which seems to make her happy...but very shortly thereafter she is up...first crying, then screaming, then playing. Last night this went on from 7pm to 1:30am. I have tried everything...milk, music, letting her work it out...nothing helps and now I somewhat dread bedtime. I just know how she needs her rest to be strong and I fear she isn't getting enough. She wouldn't even nap today after that late night. I have read many similar stories with other Retts Angels and I am afraid we may be in for this for a while. Something to discuss for sure next doctor visit.
Other than that we are plugging along, taking one day at a time, loving our daughter and son more than life itself and praying.
Wednesday, June 29, 2011
Looking out the window....
It is a good day today.. sun is shining and Miss Bella decided that she would like to look at the view.. so she has made several successful attempts to pull up on the window ledge with her arms from a kneeling position on the floor. I think it may be to get a peek at her new swing and slide from Gingie and Papa..but hey whatever works!
Now that is some good work on Bella's part.. never being interested before in pulling up on anything, this is much progress.. and the next step from knees is FEET!
Last night at dinner, which was her favorite, pasta and meatballs.. she kept clapping her hands say "Pa" for pasta! So these little associations and sounds are like sweet music to my ears.
Also, something new... whenever I mention her brother's name.. I hear "ck" come out of her mouth.. she seems to be repeating the last sound she hears me say to call Zackary... good stuff..very good stuff!
Well we are all getting excited..Little Zackary turns ONE tomorrow!! Can't believe it.. I can just imagine how cute Bella will be with him..I am assuming LOTS of her usual kisses for him will be in order.
Now that is some good work on Bella's part.. never being interested before in pulling up on anything, this is much progress.. and the next step from knees is FEET!
Last night at dinner, which was her favorite, pasta and meatballs.. she kept clapping her hands say "Pa" for pasta! So these little associations and sounds are like sweet music to my ears.
Also, something new... whenever I mention her brother's name.. I hear "ck" come out of her mouth.. she seems to be repeating the last sound she hears me say to call Zackary... good stuff..very good stuff!
Well we are all getting excited..Little Zackary turns ONE tomorrow!! Can't believe it.. I can just imagine how cute Bella will be with him..I am assuming LOTS of her usual kisses for him will be in order.
Tuesday, June 28, 2011
One of those days...
I was asked this morning if I planned on writing on this blog everyday.. I thought about it quickly and said "probably".. I am finding it very helpful to sort of clear my mind each day. So please, forgive me if somedays, like today, I seem to "unload" and ramble on. I don't expect everyone to sit and read about all the things that are swimming around up in my head, so if you don't read on, no offense taken :)
Bella woke up quite early this morning, about 4:45am. I tried to see if she would fall back to sleep but not today. So up we were at 5am. She was in a pretty good mood considering she isn't quite a morning person, kind of like her Mommy. We even had some cuddle time on the couch watching the Disney Channel. Zackary decided he wanted to join the fun around 5:30..so our day started.. breakfast, getting dressed etc. Bella ate well, her favorite of course, a blueberry waffle with peanut butter. I had given her some fruit as well. I am really trying to make sure she has all her vitamins and since she is not a vegetable lover, I try and supplement with good ole Flintstone's Gummies.
Unfortunately I don't think I waited long enough for her belly to be full... she became very cranky and I was trying to figure out what was wrong.. you see that is one of the HARDEST parts right now, there is no way for poor Bella to tell me what she is feeling or what she needs.. so I have to play the guessing game. It gets us both quite frustrated....and leaves me feeling very inadequate as a Mom. I just want to cry when she looks at me like "Mommy why don't you understand me?". That is the part I struggle with the most.
Well I figured it out when she proceeded to throw up her breakfast. Two seconds later she was all smiles. My guess, she was nauseous and the vitamin was NOT a good idea. Won't make that mistake again.
I know you Moms out there know the frustration of trying to figure out what your new infant needs or wants, but with an infant there are only so many things that can be going on.. with a 2 year old she is feeling so many different things now and I just don't know what they are since she cannot communicate them to me.
Guess I am having a blue, feel sorry for myself kind of day. I just want to help my baby girl, I just want to make sure she has everything she needs. I have to remind myself one day at a time.. I guess I got trapped in the "looking down the road" kind of path today. I'm scared, plain scared.
Its just little things that hit me sometimes... saw a "Rooms to Grow" truck on the way to work.. I remembered how excited we were to get her crib that converted to a Toddler bed, and then to a Big girl bed.. it's those little things, like the fact that I thought she would already be in her Toddler bed...silly I know but this is where my mind sometimes takes me.
Well that is enough of that.. time to pick up and brush off... almost time to go home and see my Beautiful, Perfect, Wonderful Baby Girl and My Amazing, Handsome, Hilarious Baby Boy.. that is all that matters.....I am letting the rest go.
Bella woke up quite early this morning, about 4:45am. I tried to see if she would fall back to sleep but not today. So up we were at 5am. She was in a pretty good mood considering she isn't quite a morning person, kind of like her Mommy. We even had some cuddle time on the couch watching the Disney Channel. Zackary decided he wanted to join the fun around 5:30..so our day started.. breakfast, getting dressed etc. Bella ate well, her favorite of course, a blueberry waffle with peanut butter. I had given her some fruit as well. I am really trying to make sure she has all her vitamins and since she is not a vegetable lover, I try and supplement with good ole Flintstone's Gummies.
Unfortunately I don't think I waited long enough for her belly to be full... she became very cranky and I was trying to figure out what was wrong.. you see that is one of the HARDEST parts right now, there is no way for poor Bella to tell me what she is feeling or what she needs.. so I have to play the guessing game. It gets us both quite frustrated....and leaves me feeling very inadequate as a Mom. I just want to cry when she looks at me like "Mommy why don't you understand me?". That is the part I struggle with the most.
Well I figured it out when she proceeded to throw up her breakfast. Two seconds later she was all smiles. My guess, she was nauseous and the vitamin was NOT a good idea. Won't make that mistake again.
I know you Moms out there know the frustration of trying to figure out what your new infant needs or wants, but with an infant there are only so many things that can be going on.. with a 2 year old she is feeling so many different things now and I just don't know what they are since she cannot communicate them to me.
Guess I am having a blue, feel sorry for myself kind of day. I just want to help my baby girl, I just want to make sure she has everything she needs. I have to remind myself one day at a time.. I guess I got trapped in the "looking down the road" kind of path today. I'm scared, plain scared.
Its just little things that hit me sometimes... saw a "Rooms to Grow" truck on the way to work.. I remembered how excited we were to get her crib that converted to a Toddler bed, and then to a Big girl bed.. it's those little things, like the fact that I thought she would already be in her Toddler bed...silly I know but this is where my mind sometimes takes me.
Well that is enough of that.. time to pick up and brush off... almost time to go home and see my Beautiful, Perfect, Wonderful Baby Girl and My Amazing, Handsome, Hilarious Baby Boy.. that is all that matters.....I am letting the rest go.
Monday, June 27, 2011
Some Positive Signs...
First, let me say, thanks to all of you who have taken a moment to read Bella's story and thanks to all of you who have had such kinds words of support for our family.
We made it through the week of diagnosis and now that the shock has settled, we have been focusing on enjoying our family and all the wonderful moments our children bring to us. We had a GREAT weekend! Bella and Zack joined us at a fabulous Graduation party where Bella ate MORE than I have seen her ever eat! Must have been all of Dorothy's amazing food. I really think Dorothy needs to move in and cook for Bella (and us! xoxox) And to top off the weekend we hit the beach, which is always Bella's favorite. Zack is getting used to it a bit more and as soon as he can get used to the sand on his feet we will be in good shape.
Now to the update... Bella has been on anti-seizure medication for almost a week. Since she began to take it, we have started to notice some unique things... first, she has been bum scooting much less and has really preferred to get up on all fours and attempt a crawl! She will even sit back on her feet and lift to a full kneel position and hold it for a few seconds. In addition, I turned around to find her at the screen door up on her knees with her hands against the screen..she basically pulled up to the kneel without hands. All of this is very big for us as there has not been much progress for what seems like months.
We have also noticed that Bella is trying to sound out words more.. she will make the "P" and "B" sound and has even surprised us with calling out "Pop" when trying to get Popi's attention. She responded to me cutting her food with "Cut". Little miracles.. that I pray continue.
You see, this was the hope, that the anti-seizure medicine would stop those "blips" and perhaps allow her to progress like she so badly wants to.
Some other surprising things (for those of you that know Bella well)... I found her asleep on her stomach last night. Now Bella has HATED being on her stomach from birth... she never rolled to her stomach so to find her like that last night was quite surprising. I was happy to see that as that must have taken a lot of effort for her to do and she did it!!
So for today... thank you God, thank you to everyone that has prayed and cared..these little magic moments keep us all going... and give us hope.
We made it through the week of diagnosis and now that the shock has settled, we have been focusing on enjoying our family and all the wonderful moments our children bring to us. We had a GREAT weekend! Bella and Zack joined us at a fabulous Graduation party where Bella ate MORE than I have seen her ever eat! Must have been all of Dorothy's amazing food. I really think Dorothy needs to move in and cook for Bella (and us! xoxox) And to top off the weekend we hit the beach, which is always Bella's favorite. Zack is getting used to it a bit more and as soon as he can get used to the sand on his feet we will be in good shape.
Now to the update... Bella has been on anti-seizure medication for almost a week. Since she began to take it, we have started to notice some unique things... first, she has been bum scooting much less and has really preferred to get up on all fours and attempt a crawl! She will even sit back on her feet and lift to a full kneel position and hold it for a few seconds. In addition, I turned around to find her at the screen door up on her knees with her hands against the screen..she basically pulled up to the kneel without hands. All of this is very big for us as there has not been much progress for what seems like months.
We have also noticed that Bella is trying to sound out words more.. she will make the "P" and "B" sound and has even surprised us with calling out "Pop" when trying to get Popi's attention. She responded to me cutting her food with "Cut". Little miracles.. that I pray continue.
You see, this was the hope, that the anti-seizure medicine would stop those "blips" and perhaps allow her to progress like she so badly wants to.
Some other surprising things (for those of you that know Bella well)... I found her asleep on her stomach last night. Now Bella has HATED being on her stomach from birth... she never rolled to her stomach so to find her like that last night was quite surprising. I was happy to see that as that must have taken a lot of effort for her to do and she did it!!
So for today... thank you God, thank you to everyone that has prayed and cared..these little magic moments keep us all going... and give us hope.
Sunday, June 26, 2011
A little about Bella Kai
Bella is so many things other than a girl with a struggle. She is and always has been a sweet and gentle soul. She has a smile that can melt your heart and brighten your day no matter your mood.
Bella loves books. A lot like her Mommy she can spend hours looking at books. She loves her family who she is surrounded by constantly. Bella has always been a little stingy with her kisses and saves them mostly for her brother Zackary and her Poppi. The rest of us fight for them which I believe she gets quite the kick out of!
From the very first days of her life she was on the beach. She absolutely loves going and will scoot around in the sand all day. She is known fondly as our beach baby! Bella gets extra spoiled at the beach eating lots of yummy snacks, going for walks with Poppi and Auntie and playing with Mimi and her BFF Donna.
Miss Bella loves the water and is not afraid to sit right in it. She is one happy camper at the beach.
Let's see....ah yes MUSIC...another of her favorites. She loves to move to music and is always captivated by a good beat. I think she will be a great singer or dancer someday.
Bella is by far "Daddy's girl". She lights up when Daddy comes home and yells "Beaner!", a nickname Jeff has had for her since the first days we brought her home.
I could go on and on but the purpose of this post was to describe Bella as I see her. And to share with you a few of the things that make her so extra special.
Bella loves books. A lot like her Mommy she can spend hours looking at books. She loves her family who she is surrounded by constantly. Bella has always been a little stingy with her kisses and saves them mostly for her brother Zackary and her Poppi. The rest of us fight for them which I believe she gets quite the kick out of!
From the very first days of her life she was on the beach. She absolutely loves going and will scoot around in the sand all day. She is known fondly as our beach baby! Bella gets extra spoiled at the beach eating lots of yummy snacks, going for walks with Poppi and Auntie and playing with Mimi and her BFF Donna.
Miss Bella loves the water and is not afraid to sit right in it. She is one happy camper at the beach.
Let's see....ah yes MUSIC...another of her favorites. She loves to move to music and is always captivated by a good beat. I think she will be a great singer or dancer someday.
Bella is by far "Daddy's girl". She lights up when Daddy comes home and yells "Beaner!", a nickname Jeff has had for her since the first days we brought her home.
I could go on and on but the purpose of this post was to describe Bella as I see her. And to share with you a few of the things that make her so extra special.
Saturday, June 25, 2011
Unbelievable Days
Welcome to Bella's blog. We figured it would be the most efficient way to keep everyone updated on her journey. For those who we have not had a chance to speak with, let me catch you up. Our beautiful Bella is now 2 years old. Since her birth things had been progressing as they should until about 9 months old when she had not begun to crawl, pull up or show interest in walking. We discussed our concerns with our pediatrician which set us on a course to have Bella evaluated and seen by medical professionals. We began with Early Intervention programs that offer physical therapy and other services.
We began with the walking issue as we always noticed how loose her limbs and muscles seemed. We hoped that she just needed to strengthen those muscles and she would get up and walk. In addition our doc recommended that she be seen by a neurologist and an orthopedist. So off we went. The orthopedist said her legs looked great. No issues with her bones...phew, one down. Next was the neurologist. He examined Bella and saw nothing startling and since she was so young we had to take a wait and see approach...not exactly my cup of tea.
Time did roll on and we waited, watched and prayed. She continued physical therapy at Hasbro Children's Hospital and was even increased to twice a week. By 18 months Bella had still not pulled up,crawled or walked. Nor was she saying many words. She would mimic certain animal noises, point to animals when asked and would welcome Daddy home with her famous "Hi Da".
But then very suddenly all that stopped.
We became very very concerned and immediately got back with her pediatrican and the neurologist. Bella had also stopped gaining weight as she should so we added an Endochronologist to her medical team. Bella had more bloodwork done than any little one should and through it all she was a trooper!!!!! The standard screens came back normal much to our relief.
Yet we still had no answers as to why our baby girl was developmentally delayed. Next step was an EEG of her brain wave activity and more bloodwork...this time a micro array DNA test to check for genetic abnormalities. Our nerves were on edge and our hearts so heavy with worry.
Now during these long months I began researching her symptoms on line. I was told not too and warned against it but for those of you that know me well know that was not an option. I needed knowledge, understanding as to what was happening with my baby girl.
That is when I first learned of Rett Syndrome....a progressive neurological disorder affecting mainly girls. As I read the list of symptoms fear set in. Bella was showing too many of the signs of Retts. I tried to shake it off, rule it out. After all she didn't have "all" the symptoms. Yet as the days went by, it weighed heavy on my mind and just lingered in the pit of my stomach. So I asked that she be tested for Retts. A simple blood test and we could rule it out and quiet my mind.
I tried to stay positive as my amazing husband advised. When the micro array DNA test came back normal I felt we were out of the woods. We were almost there...just waiting on the Retts test and the EEG.
Then it happened...a call from her neurologist. We needed to go in and speak with him, without Bella, just Jeff and I. Her EEG came back abnormal. Since EEG's test for seizure activity and that was one of the symptoms of Retts that Bella was not exhibiting...I began to unravel.
We were told that Bella was not having actual seizures but in very simplified terms was having "blips" of abnormal brain activity. It was explained that if this was left untreated it would make it very easy for her brain to allow full blown seizures to occur. After much consultation with the neurologist we decided to put Bella on a trial run of anti-seizure medication to see if we could stop the blips. It is hoped that once stopped she will begin to make progress with walking and talking.
I apologize as I am trying to be as concise as possible and cannot possibly put all the discussions and explanations we received from her doctors here, but I hope it gives at least an understanding of where we are. I say that now because what happens next has left us at times completely confused and lost.
June 21st, the first day of summer....should have been a good day. Turned out to be the worst day of our lives thus far...Bella's Rett test came back...she tested positive for a deletion in the Mecp2 gene which is how they diagnose Retts.
I can't and won't relive that moment here as it is too painful and truly can't be put in to
words. Those moments were shared in the loving embrace of the most supportive family and best friends in the world.
For those of you who have not heard of Retts and would like to learn more I recommend rettsyndrome.org. It is a wonderful site.
So where did all that leave us and what does life look like for our amazingly special, beautiful Bella Kai?? Here is where it gets confusing....the variant that Bella tested positive for is listed as a variant of "unknown clinical significance". What does that mean? It means that although it is associated with the gene mutation that causes Retts there are not enough girls/people with that variant to know if it will definitely be Retts and progress like Retts, yet it doesn't mean it won't either. There simply isn't enough data. So all we can do is wait..yet again, watch wait and pray that Bella's variant will be mild or will be proven not to be Retts at all. Only time will tell and if all the prayers you all have sent are answered our Bella will walk, talk, run, jump and get into trouble with Zackary someday very, very soon.
Thanks for listening and caring and praying. Please keep the prayers coming. I truly believe they will work!!!
We began with the walking issue as we always noticed how loose her limbs and muscles seemed. We hoped that she just needed to strengthen those muscles and she would get up and walk. In addition our doc recommended that she be seen by a neurologist and an orthopedist. So off we went. The orthopedist said her legs looked great. No issues with her bones...phew, one down. Next was the neurologist. He examined Bella and saw nothing startling and since she was so young we had to take a wait and see approach...not exactly my cup of tea.
Time did roll on and we waited, watched and prayed. She continued physical therapy at Hasbro Children's Hospital and was even increased to twice a week. By 18 months Bella had still not pulled up,crawled or walked. Nor was she saying many words. She would mimic certain animal noises, point to animals when asked and would welcome Daddy home with her famous "Hi Da".
But then very suddenly all that stopped.
We became very very concerned and immediately got back with her pediatrican and the neurologist. Bella had also stopped gaining weight as she should so we added an Endochronologist to her medical team. Bella had more bloodwork done than any little one should and through it all she was a trooper!!!!! The standard screens came back normal much to our relief.
Yet we still had no answers as to why our baby girl was developmentally delayed. Next step was an EEG of her brain wave activity and more bloodwork...this time a micro array DNA test to check for genetic abnormalities. Our nerves were on edge and our hearts so heavy with worry.
Now during these long months I began researching her symptoms on line. I was told not too and warned against it but for those of you that know me well know that was not an option. I needed knowledge, understanding as to what was happening with my baby girl.
That is when I first learned of Rett Syndrome....a progressive neurological disorder affecting mainly girls. As I read the list of symptoms fear set in. Bella was showing too many of the signs of Retts. I tried to shake it off, rule it out. After all she didn't have "all" the symptoms. Yet as the days went by, it weighed heavy on my mind and just lingered in the pit of my stomach. So I asked that she be tested for Retts. A simple blood test and we could rule it out and quiet my mind.
I tried to stay positive as my amazing husband advised. When the micro array DNA test came back normal I felt we were out of the woods. We were almost there...just waiting on the Retts test and the EEG.
Then it happened...a call from her neurologist. We needed to go in and speak with him, without Bella, just Jeff and I. Her EEG came back abnormal. Since EEG's test for seizure activity and that was one of the symptoms of Retts that Bella was not exhibiting...I began to unravel.
We were told that Bella was not having actual seizures but in very simplified terms was having "blips" of abnormal brain activity. It was explained that if this was left untreated it would make it very easy for her brain to allow full blown seizures to occur. After much consultation with the neurologist we decided to put Bella on a trial run of anti-seizure medication to see if we could stop the blips. It is hoped that once stopped she will begin to make progress with walking and talking.
I apologize as I am trying to be as concise as possible and cannot possibly put all the discussions and explanations we received from her doctors here, but I hope it gives at least an understanding of where we are. I say that now because what happens next has left us at times completely confused and lost.
June 21st, the first day of summer....should have been a good day. Turned out to be the worst day of our lives thus far...Bella's Rett test came back...she tested positive for a deletion in the Mecp2 gene which is how they diagnose Retts.
I can't and won't relive that moment here as it is too painful and truly can't be put in to
words. Those moments were shared in the loving embrace of the most supportive family and best friends in the world.
For those of you who have not heard of Retts and would like to learn more I recommend rettsyndrome.org. It is a wonderful site.
So where did all that leave us and what does life look like for our amazingly special, beautiful Bella Kai?? Here is where it gets confusing....the variant that Bella tested positive for is listed as a variant of "unknown clinical significance". What does that mean? It means that although it is associated with the gene mutation that causes Retts there are not enough girls/people with that variant to know if it will definitely be Retts and progress like Retts, yet it doesn't mean it won't either. There simply isn't enough data. So all we can do is wait..yet again, watch wait and pray that Bella's variant will be mild or will be proven not to be Retts at all. Only time will tell and if all the prayers you all have sent are answered our Bella will walk, talk, run, jump and get into trouble with Zackary someday very, very soon.
Thanks for listening and caring and praying. Please keep the prayers coming. I truly believe they will work!!!
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