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!!!