The final Verdict
When we originally saw MRI images of Sophia brain in the summer of 2012 it was like someone had reached in and stolen my lungs, it completely devastated me and took my breath away .Because it was the very first time I had undeniable black and white evidence that something was very wrong . Not just a "phase" or a "hurdle" , as they say " shit got REAL " real quick ....I was being put into the world so "special needs " as a full fledged card carrying member ...We went through a lot of emotions , often each of us ( Luis and I ) at different stages of emotional acceptance , putting a strain on us as individuals and on our relationship . However , we stuck together and fought against the odds and not each other.Sophia's doctor wanted to re check her with another MRI scan in six months to check if there was and change in brain mass . He also felt that this was being cause by a genetic trigger and not an external one. So I was referred to a newly hired specialist from Boston children's medical center . She specializes in neurogenetic diseases .Last February Luis and I sat in an office in the neurology department of Connecticut children's medical center with our nuro-geneticist looking at MRI images exactly mimicking those we had seen six months before. Despite all my effort her brain had not grown . BUT it also hadn't shrunk , which was VERY good news.But now we had to get to the business of WHY?She informed us of a cutting edge genetic test called whole exome sequencing . I'll leave out the medical mumbo-jumbo but just know it's super complicated SUPER expensive stuff. We had to get it approved by insurance which took 5 months and two attempts but we got it approved and many thousands of dollars later we have gotten our answer.In august of 2012 we went to Wallingford early on a Saturday to get Sophia's blood taken, we sent it out having them specifically looking for pontocerabellar hypoplasia causing malformations in her DNA . Yale did the testing and it was the longest and most excruciating five month wait of my life. But yesterday at 3:00 after a lot of nagging and maybe some cursing at the front office staff for poor communication , we got our answers ..Now before I break this down for you now would be the time to pee , get something to much on and grab your hog school brain for me cause we are toting to go into biology a little bit here...Sophia finding were that she is the 54th confirmed female case of Pontocerabellar hypoplasia caused by a spontaneous CASK gene mutation. This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain.*I'll break that one down:this mutation effects your brains ability to produce and process a protein that is essential for brain growth and intra-nuron communication. The mutation is located on the short leg of an X chromosome . ( biology brains on yet?) boys are born with only one X chromosome so when a male has this condition they do not live past their first few months of life as the brain is unable to sustain the demands of a growing body.However, females are born with two X chromosomes and the mutation effects only one of Sophia's two X chromosomes. So her brain is able to process that protein but her " factory" is operating at 50% capacity..So what the hell does that mean your thinking ? I promise I'll break it down just stay with me .This type of PCH doesn't fall within the known groups. All of the numbered groups have varying life expectancies and typical health issues. I was made to understand that as of yet Sophia's form of PCH is actually the most survivable type of PCH because there is not known to be a degenerative factor.Her doctor looked us dead in the face yesterday and said "I wasn't able to find out much about this , it's only something we have been able to recognize recently in the medical community and it isn't very well studied at this point, so honestly we are all learning in this together. But here is what I was able to find out ..." The person who published this study only found 53 other cases in the WORLD ,PCH is a very rare disease to begin with but this makes her the rarest of an already rare group.It was spontaneous, meaning Luis and I did NOT pass this on to her and have a 2% chance of ever having another child like her, which took an amazing load off of my mind.one child studied says two word sentences!!!most children do achieve independent sitting , which I was so glad to hearThere is an individual being studied who is in their 20's and there is NO noted mortality rate !!!!!now you may be confused as to why this is good news in my book . but from the moment I first saw her MRI images we knew SOMETHING was very wrong or had gone very wrong in her fundamental make up to cause such a glitch. So we always knew we would be somewhere in this range. I have cried about this at least once a day every day since I knew something was wrong. I have cried enough tears to float a boat im sure of it. However, being on this end of the spectrum is an absolute blessing and I will never look at it as anything but such. I shed exactly two tears since I got our diagnosis yesterday. I think im officially done crying. knowing isn't anyplace near as hard as NOT knowing.So in summary this is what I know :My daughters name is Sophia Krystina Soto, she has strawberry blonde hair and a pair of the most beautiful blue-grey eyes that you have ever seen. She has got a hurtin' X chromosome that is going to make our life interesting. But I know I have a LIFE to live with her. Honestly that is all I need to know.Every single other detail to this journey is secondary. I get to keep my baby girl and shes not going anywhere any time soon. Whatever we face , we will overcome.TeamSophia will never stop, and there is no place to go but UP.*genetics home reference
