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Early Myoclonic Encephalopathy - Living with this syndrome - Any adults?

Mon, 03/16/2015 - 17:24

Hi everyone.

I am the mother of a 22 year old young man who was born with Early Myoclonic Encephalopathy Syndrome. It is a catastrophic infantile epilepsy with an average lifespan of 2 years of age. So far, I have not found any other parents to connect with who have living children with this syndrome. It is very rare and unfortunately, the couple of parents I found over the last 22 years had already lost their children. Every few years, I do another search. Research studies refer to about 100 children that were studied with this syndrome. I never seem to find them. The physician that discovered EME, who also discovered Ohtahara's syndrome (similar to EME) passed away in 2013. Prior to Dr. Ohtahara's passing researchers discovered a possible genetic link  with disruption of the neuregulin-1 receptor ErbB4. If there are any parents out there of a child with EME, that are interested in connecting with another parent regarding living with this syndrome, please e-mail me at milmark2@myfairpoint.net. 

Sincerely,

Millie

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