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.

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.

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.

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.

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!!!