So we were contacted by Cailyn's geneticist a few weeks ago that they've finally come up with answers.
We've been testing Cailyn for various genetic and chromosomal issues for almost three years now. First at Johns Hopkins and then at the Kennedy Krieger Institute, also in Baltimore.
They've tested blood, blood sugars, proteins, spinal fluid, MRIs etc. So it ends up Cailyn has an anomaly in a neurotransmitter protein called STXBP1. It has only been discovered in the past year so it's super new science. Ends up Cailyn is the first case of STXBP1 at Kennedy Krieger.
It will not change anything in how we treat her. Since it's gene stuff it's not "fixable". The two biggest things with this protein are intractable seizures and developmental delays. Nothing new on that end, these were both things we already knew. The one new thing we found out is that this is NOT inherited so if we have other children there is only a 1 to 6% chance they would have the same anomaly, so 94% chance or greater that this would NOT occur again.
So no new steps for now. We are still supposed to stick with her neurologist for seizure control and all her therapies to improve her strength and skills.
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