has a 6-year-old daughter that lives with a SCN2A related disorder

“Hello, my name is Elisabeth, and I am a mom of 6 children. My youngest child, Amy, is 6 years old and has a rare genetic disease related to a gene called SCN2A.

Amy’s birth was normal – everything went well. But what started afterwards was completely unexpected and the hardest thing. Amy was unable to drink after birth. I immediately felt that something was wrong. We had to make her drink with a special bottle day and night. It was a difficult time for us because we didn’t know what was going on with her at that point.

Amy developed very slowly in the first few months. At eight months old, she couldn’t do anything; neither sit, nor crawl. She was just stiff. The paediatrician noticed that Amy needed support from the Service de Rééducation précoce. It started immediately: Amy received many therapies, such as kinesiotherapy and ergotherapy, which brought some improvements. At 14 months old, Amy was able to keep her balance and at 17 months she was able to sit. Then, she learned to crawl at the age of 20 months. We thought we made it. But, no, things got worse from there.

Amy started to have seizures when she was 20 months old and had to go to the hospital. The treating pediatric neurologist had a suspicion what caused Amy’s delay and, because we also wanted to know what was wrong, we did a genetic test. The diagnosis: a genetic mutation. Part of the chromosome is missing. A genetic defect that is rare and is accompanied by developmental delays, speech developmental delays, symptoms of autism and epilepsy. At that moment our world collapsed. Thousands of questions went through my mind and I felt profound sadness.

But, from then on, we knew what to do, how to deal with the situation. Our everyday life changed overnight. We had to do a lot of therapies with Amy. At 28 months, Amy was able to walk on her own. Every little improvement was a gift to us. Amy’s development is very slow in many areas and still delayed. Amy can’t speak. But she communicates through sounds and gestures. Everyday life with Amy is difficult, but every moment with her is just beautiful.

We have been through a lot, and we still have a long way to go to our goal. But we have courage and hope and do not give up. We learned to accept the situation and live with it. Amy has been going to school for three years and it’s wonderful to see how she blossoms and is accepted by the other children despite her illness. We can see that she is doing fine. We are grateful for every bit of progress, and, with a lot of strength and love, we stick together as a family.”

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