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.
Saturday, August 20, 2011
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.
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