This weekend, we leave for a week-long trip to the National Institutes of Health (NIH), a government entity responsible for biochemical and public health research. We were invited to take part in a clinical study they’re conducting on Congenital Disorders of Glycosylation (CDGs). (And by invited, I mean we found out about the study and repeatedly reached out to them to see if Emmett could participate. 😉 )
In terms of finding the right doctors and all the work and research that’s been happening out there, it feels a little like it’s starting to come together (thanks in large part to Andy, one of Steve’s longtime friends). With rare diseases, there’s rarely a standard path of care. There’s even a spectrum of what doctors will encourage you to do, ranging from nothing to helping provide guidance on unproven treatments. Up until now, our doctors have been trying to treat the symptoms, the most critical one being the spasms and hypsarrhythmia tied to infantile spasms because it’s detrimental to a baby’s development. Problem is, we don’t know which issues are attributed to his genetic disorder and which are caused by the infantile spasms. Also, the typical medications used for infantile spasms have failed for him.
So while we continue to cycle through infantile spasm treatments (pyridoxine and the keto diet being two), we are also looking into treatments targeting his genetic mutation. It seems to be his biggest hope. I’ll write (a lot) more about it during and after our trip, but until then, wish us luck on our five/six hour flights!
p.s. Emmett seems to be tolerating the keto diet so far — we’re about two months in. We won’t know if there’s a marked improvement until we go in for another EEG, which is scheduled for next month.
It’s been a busy month… here’s some of what Emmett has been up to!