Tuesday, April 5, 2016

MDA Summer Camp Physical

Another visit to Hershey. This time for Max's MDA camp physical appointment. The EEG came back clear with no signs of epilepsy.
However, it's looking like Max's MD is combined with a mitochondrial/metabolic issue. Turns out there were some mito cell changes on the biopsy. Specifically he showed NADH-TR myofibers with increased subsarcolemmal activity. (I don't think that is a good thing.)
I brought Mimi because I thought it wasn't a big appointment, but there ended up being a discussion about both dynamin defects being a possibility still and now these cell changes.

Our Dr. said that if the genetic testing we'll do in April (which will take 3 months) doesn't show why we have energy failure- he will send us over to Children's Hospital of Philadelphia to talk with the genetic neuro counselor there for probably exome sequencing (summer appt? or early fall maybe?)
You know...just a physical for camp....then we went out to lunch- as you do.

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