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The Netherlands
17 years old
December 15, 2020

Ryan

Ryan was diagnosed with Syngap1 in November of 2020 at UMC Utrecht. We stopped searching for a cause years ago, but insurance wise it was logical to do exome  sequencing once more before his 18th birthday. Bingo.

He was born healthy (we thought) in 2003. After 6 months we noticed that he was not developing at the usual rate. At 11 months, we had a “circus” of tests done, no cause was found. He was diagnosed with global developmental delay. At 2.5 years, he just started walking but we noticed that he fell a lot. An EEG was done and showed that Ryan was having seizures, thus an epilepsy diagnosis. At this point we started experimenting with one drug after another, alternative methods, and finally at the age of 4 we started the ketogenic diet and he became 100% seizure free. I thought we won the battle.

Ryan started at a special needs school but we were advised that he would do better elsewhere. At this time his frustration was growing, not being able to communicate led to aggression (biting, scratching, and hair pulling). After much research we found ABA. At the time ABA was not a big thing in Holland (still isn’t). But I found one ABA school in another part of Holland. We sold our house, found new jobs and moved there. After 18 months his seizures came back and he had a prolonged QT interval of his heart, a rare side effect of the diet. Ryan then had a NVS implanted and we tried CBD oil - all in which did not work for him. We no longer have tried to treat his epilepsy. Eventually Ryan faded out of his ABA school so we transitioned him to a special needs school in the area in which he is thriving.

He has about everything on the Syngap1 list: constant epileptic activity, autism, sleepless nights, dyspraxia, teeth grinding, and aggressive behaviors. Ryan is extremely determined. When it is his will against yours, you will lose. Punishment never works. Positive bribery does. Mentally he is like a 2 year old. With years and years of ABA, horse therapy, music therapy, aquatherapy, speech therapy, dolphin therapy we have reached wonders behavioral wise. Often he is still very aggressive, which can be difficult due to his size.

Fortunately, most of the time he is easy to handle. He is the happiest kid I know. Very affectionate with family, most of all with his 16 year old brother William. Because he is happy and laughs a lot, people always  instantly fall in love with him.

The last five years we mainly focus on behavior, following instructions and flexibility. He understands simple instructions and knows some sign language to tell us what he wants.  We have a great team of aids working with him. They also come along on family holidays.

Ryan loves exciting things: fire, thunder and lightning, heavy rain, roller coasters. He isn’t afraid of anything. Only of barking dogs. The minute he sees a dog he puts his hands over his ears and starts panicking. But he loves dogs as well. He also loves sea lions, goats, and horses. It is pretty amazing to see how he connects with these animals.

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