” We found a mutation!” said the geneticist with a big grin on his face…my mind goes ” Did you just say my son is a mutant???”
Okay so lets put this into context. When Boston was only a month old his blood was taken for DNA testing. Dr Gabbet was fairly sure his craniosynostosis would be linked to a syndrome, 9 months down the track they were still searching. Not all cranio kids have genetic abnormalities, for many there is no explanation to why, but Boston had lots of physical indicators pointing to the contrary.
So when they finally found the mutation in his TWIST1 gene a big piece of the Boston puzzle was found. Despite my initial gawk at my little man being labeled a mutant (please note that at no point did any doctors refer to Boston as a mutant) it is nice to have an explanation, another part of his story, and a relief that there was not a more sinister syndrome behind everything. I am still learning about Saethre-Chotzen Syndrome and are yet to have a full follow up with Dr Gabbet, but in short;
Saethre-Chotzen Syndrome occurs in 1 in 25,000-50,000 people (yup Boz is a rare gem) and is caused by a mutation in the TWIST1 gene. This gene is in charge of making a particular protein that plays an important role in early development of bones, muscles, and other tissues in the head and face. Craniosynostosis and ptosis (drooping eyes) are symptoms along with a bunch of others that you may or may not have noticed in Boston. Next time you are lucky enough to give him a smooch (if you are indeed one of the lucky ones who has met Boston) check out; the shape of his nose and ears, his short gorgeous fingers, his narrow palate and wait for it….the dimple above his bum. There can be developmental delays (which we have experienced), although most people with Saethre-Chotzen syndrome are of normal intelligence. Not all people with the syndrome have every symptom, in fact many people go undiagnosed because abnormalities are so minor they are never noticed.
It has taken a little while for the new information to sink in but I am now embracing all that comes with it, much that I am sure Boston is yet to teach me. Our new question is whether Steve or I have passed this down or whether it is a new event in our families genetic history. If Boston has inherited the mutation we have some big decisions to make about extending our family…but more about that in another post.
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