0
The Netherlands
3.5 years old
April 10, 2019

Nick

My name is Nick Punt and I am from the Netherlands. Together with my twin brother, Lars Punt, we call ourselves the Syngap Twins. I am 3.5 years old and from the age of 1.5 we knew we had Syngap1. I have also been diagnosed with epilepsy. Unfortunately, epilepsy is not yet completely under control. This is probably because I had a cerebral infarction during pregnancy. Because of the medication I get fewer absences (with myoclonische characteristics), but i have still 10 absences in a day. According to my mom and dad I am a happy boy. Together we have a lot of fun. But occasionally my parents doesn't understand me. Maybe it’s because I cannot speak yet and that makes communication very difficult. I also have a very nice wheelchair, an adapted chair and a high low bed. These tools help me to develop further in the right way. My mum and dad are working on adapting our house so that I can be cared for even better. Last year I didn't have to go to the hospital anymore. Occasionally I don't like the food and for that I had to go to the hospital regularly. Eventually they gave me a PEG probe so that I can eat whenever I want and if I don't want I get my food through the PEG. Then I still get enough food, which makes me less likely to fall ill.

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