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Alameda, California
15 years old
April 27, 2022

Nigel

Nigel is 15 years old, and lives in Alameda, California. He was diagnosed with PDD-NOS and Mental Retardation at the age of 3, but we knew almost immediately that neither one was really a good fit. We first started noticing MAE seizures in April of 2011, when Nigel was 4. He had an MRI and a genetic test in 2011 or 2012 which found nothing.

In April of 2021, I talked with his neurologist about distinctive “first bite” seizures I saw, and she told me about SYNGAP1. As soon as I looked it up, I knew. We followed up with a whole exome sequence genetic test, and the mutation was confirmed on October 13th, 2021. He got a VNS implant in March, and we have high hopes it will help alleviate the seizures, which have been very resistant to drug treatment. Nigel has been on 8 or 10 epilepsy drugs.

Nigel is a fun, bright kid who likes to pull you into his games and show you what he knows. He talks but has a lot of trouble controlling his mouth and tongue. He learns phrases and repeats them, which seems to be easier than putting whole sentences together from scratch. He makes extensive use of onomatopoeia: words like WOW! CRASH! OUCH! OOPS! HA-HA! ...which make it a lot of fun to be with him. He also has some extreme tantrums or meltdowns; he's been having them since he was 2 or 3 and it can be very difficult to deal with. The last two weeks he has had none, though, and I hope we can continue without them! It seems really unlikely, but time will tell - fingers crossed!

Nigel's favorite activity is playing Nintendo games. He has a Wii, a Wii-U, and a Switch. We've been working on Legend of Zelda: Breath Of The Wild for a couple of years now, and he's ready to conquer the Divine Beasts. We also love to ride steam trains together, and we go to Redwood Valley Railway most weekends. Nigel has a French Bulldog named Eeyore who he loves to play with and take on trips. He loves to watch Star Trek on Netflix and Zach Scott on YouTube. Nigel gets a slice of peach pie for breakfast every day in exchange for going to school on the bus. He also loves ramen, California rolls, and fresh fruit.

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