Genetics & Orthapedic

So today was a busy morning. We received two calls we had been waiting on. We heard from both Orthopedics and Genetics.

Regarding the Coxa Valga Hip deformity: Yes Addyson has this. They don’t really do much for it unless it gets worse. We will continue to treat the pain when it arises.

Now onto the Genetic (WES) information: Genetic counselor feels Addyson has a genetic mutation that has not yet been identified. What we do know is that Addyson has a variant in her MEFV Gene that was obtained maternally (Sorry baby girl). Usually for an Familial Mediterranean fever disorder diagnosis you have to have two gene variants in your MEFV gene, so this gives her a clinical diagnosis of PFAPA. However according to the genetics counselor they are starting to see that sometimes the variant in the MEFV gene is strong enough to only need one variant. They suggested we continue to treat her as a PFAPA diagnosis, but keep in our heads that she has the gene mutation of FMF. Either way, she has a periodic fever disorder. We are working with NIH to keep her on a clinical trial to keep these from affecting her so often. NIH first identified her MEFV gene variant….we were hoping we would learn her top level diagnosis from Hopkins, maybe in the years to come

They are planning to keep her genetic data, and they hope in years to come, they can determine what genetic condition she truly as. Her counselor is sure there is more going on, just that it has not been identified yet.

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