Andrew is our third kid. It was a normal pregnancy, normal delivery, everything was normal. His first three, four months, he was hitting all his milestones, this beautiful little baby.
One day, my wife noticed that he had a tiny little foot twitch. She’s an ophthalmologist, and she posted a video of him on a Facebook group for Orange County women physicians. Within a half hour, someone logged in, “Hey, that’s a seizure; you better take your kid to the ER.”
So we went to the hospital, scared. They did labs and a spinal tap, which is horrifying to watch on your kid. Everything came back normal, and they said, “It’s just one seizure, but we’ll get you plugged in with a specialist.”
In time the seizures went from one a day to three a day, and from three a day to five a day, and from five a day to 50 a day. Andrew ended up spending a hundred days in the first year of his life in the hospital.
When he was about 9 months old, he had a gene panel test. Andrew’s mutation is called a KCNT1 mutation, a catastrophic form of epilepsy. A lot of these kids don’t make it to age 5. Most do not learn to walk and talk, and most are bed-bound their entire life.
Fortunately, we started him on the ketogenic diet. Some people with severe epilepsy will respond to it, and we were lucky that Andrew did. His seizures went from 50 to maybe one or two in a week.
Once that went down, we got him off all his main anti-seizure drugs and he started to wake up. He eventually learned to sit, and he learned to go from lying down to pushing himself up into a sitting position. About a year ago, he learned to recognize his bottle when we put it in front of him and he’ll reach out, only with one hand, and have a bottle and feed himself.
These kids, most are on an autism spectrum, so he doesn’t make eye contact, he’s totally nonverbal. But he does understand phrases. We’ll say, “Andrew, give us a kiss,” and he’ll purse his lips so he can be kissed. Or we’ll say, “Arms up,” when we change him. Clearly, we know he’s processing something.
There are about 80 kids in the country we know of who have this and maybe 250 around the world who have been diagnosed so far, and probably many others we haven’t found out about.
The positive news on the horizon is there are two huge companies, as well as some smaller companies, that are actively working on drugs specific to Andrew’s genetic mutation.
The reason it seems that drug companies are interested in us is that the single most common cause of intellectual disability in the world is Fragile X syndrome. That impacts about 2 million people worldwide. We think the companies, in the course of trying to figure out a treatment for ours, may lead to answers to treat this much larger population.
We have a foundation, it’s the KCNT1 Epilepsy Foundation. It’s a group of parents. We’re lucky in that we know that donations are going directly toward funding of research and drug development, and there are world-renowned experts working on it. This is one of the few circumstances that a person gets presented with where they can actually give somebody a life back, potentially.
Donate to the KCNT1 Epilepsy Foundation
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