Well we just discovered our girl is one in FIFTY MILLION.
Yep, you read that right. 1 in 50,200,000. There are approximately 150 in the whole world who have a variant of CTNNB1 Syndrome. Just like Westynn.
CTNNB1 Syndrome is a deletion, partial deletion or mutation of the CTNNB1 gene that provides the blueprint for the creation of beta-catenin which is a multitasking protein that allows for cell specialization, cell division/growth, cell adhesion and inter-cell communications. Depending on the degree of alteration or mutation, there will be a wide range of abilities that are affected, as well as some possible changes in physical appearance. Some symptoms that have been noted include global developmental delay, spasticity, hypotonia, microcephaly, amblyopia, strabismus, hyperopia, a high startled reflex, repetitive behaviors and sensory processing issues that can mimic Autism Spectrum Disorder. In addition to the symptoms listed, there are appearance markers that have been noted including light colored sparse or thin hair, atypically large bridge of the nose, thin upper lip, pale or translucent skin, and unevenly spaced teeth. (Thank you Google)
We entered Westynn in a research group through Harvard called the Rare Genome Study after our insurance wouldn’t pay for any more testing… they quickly accepted our entry and one year and a few months later we received our answer. We just received the phone call and I have been on google ever since! This is still completely new to us, so I don’t know too many specifics. But I just COULD NOT WAIT to share the exciting news with all of you who have joined in this journey with us! GOD IS SO GRACIOUS. I type that in all caps because I want everyone to see it. I want everyone to know that in the midst of turmoil and grief, when you give Him glory He will reward you! And I also believe that when we die and go to spend eternity with Him, we can still plead for the desires of our hearts. Which I am 100% sure is what my Mutha did the day she left us and met up with my Daddy, because from that second, Westynn has been making miraculous improvements. Thank you mom, thank you dad, thank you to YOU our ginormous village, and THANK YOU LORD!
also… BEST CHRISTMAS PRESENT EVER.
