Wednesday, September 7, 2016

2016 Scientific Symposium Two Sides of a Coin: Deletions and Duplications on 15q



Finally got a  hold of the  2016 Scientific Symposium (click for link) Two Sides of a Coin: Deletions and Duplications on 15q.  Dr. Shefali Jeste's presentation had a snippet of Lucas during a clinical trial study (at point 36:00).  It is amazing how far he has come in the last two years.  Looking back, he wasn't even able to sit on his own without support. He still has hypotonia and poor gait but has improved a lot since then.  He also did not have any seizures back then. For the last 40 days, he has had one day of seizure which I think is pretty good compared to daily seizure activity for five months straight. Hoping this trend lasts for a long time.  







The above video presentation by Dr. Thiebert worries me a bit about possible seizures occurring during sleep in the night.  Although waking hour seizures are under control for L, I have no idea what is happening during sleep in the night.  He does occasionally wake up in the middle of the night but tends to go back to sleep on his own within 30 minutes to an hour.  Do seizures wake him up?  Seizures in the day time had the opposite effect wherein he would fall asleep for an average of 1 hour, post ictal.  An overnight EEG sounds like  a good thing to do.  Our neurologist hasn't gotten back to me about stopping keppra.  I am assuming no response is a good response as he usually got back to me almost immediately when things were getting worse.  

 We are going in for another similar study mid September at UCLA with Dr. Jeste.  

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