Nicolaides Baraitser Syndrome (NCBRS)

Sylvain’s story (born 2001)

Sylvain was born full term on the 5th April 2001 as the second child in the family. Pregnancy was not entirely flawless. I suffered with low blood pressure and one time I fainted in the supermarket, where I got a full shopping trolley, containing my eldest son, on my belly. During the whole pregnancy I was afraid that this maybe had done something to my baby. And, apart from this incident, there was a vague feeling that something was wrong with this child. When Sylvain was born and I looked at him, that feeling was there again. I looked at my boy and thought there is something a matter with him. He looked like an old man, but there was nobody saying anything about his looks. If I talked to someone about my thoughts, they all said that it would fall in place. It’s nothing to be worried about. But the feeling remained. Also my husband shared my feelings at some point, and we have had the feeling we had to fight to get recognition for our sense. Sylvain was little, didn’t eat much and didn’t ask for feeding. The first 14 months of his life he was often ill.

When he was a month old, they found an inguinal and umbilical hernia. The umbilical hernia is automatically passed over. Within 8 months he had an operation for the inguinal hernia and also within 5 years he had an operation again for undescended testicles and he also had an inguinal hernia again. When Sylvain was almost 3 years old, we went to an Academic Hospital at a special team and finally there was someone who said that there was something wrong with our child. That was the beginning of our search for a diagnose. There were blood tests, x-rays, eye tests, heart tests. They thought his hair was strange, his skin was different. They thought about Williams syndrome and Cofin Lawry, maybe a metabolic disease. We thought to ourselves of the Noonan syndrome, but none of them was wright. After a year the psychiatrist found that Sylvain had an autism-related disorder. After 5 years, Sylvain was 7 at that moment, we heard that Sylvain has (in all probability) Nicolaides Baraitser Syndrome. We we’re happy to know this, but there was not much information about the syndrome. He was the 8th person worldwide to be known with this syndrome. But know we could contacted with other people having a child with the same syndrome. A year later we first met other parents and children with the syndrome. This was amazing.

Nicolaides Baraitser Syndrome (NCBRS)

Sylvain is 14 years old now. In 2012 we got the definite diagnose, but we didn’t doubt it after seeing the other children with the syndrome. They all look so alike. He hasn’t got epilepsy so far. He is a good speaker, but he talks more than he understands. This is sometimes a pitfall. People do overrate him. Until last year he was going to a school for children with learning difficulties. For various reasons, this was no longer a good place for him. It was too difficult. Now he visits five days a week a day care. He loves it. He doesn't sit still on a chair for long during the whole day, but he is learning to be as independent as possible. They walk a lot in the woods and he cares about animals. Sylvain has scoliosis. He is wearing a brace since the beginning of 2012, 23-hours a day. He doesn’t like it and eating is sometimes a problem, because he gets bellyache as he eats or drinks too much, he has to wear it till he has out grown it. Sylvain uses medicines, Risperidon, so his concentration is better, it helps him to sleep and his behaviour is better. He also uses Fluticason proprionaat. This because of environmental allergies.

Sylvain is most of the time a very happy boy, just like his ‘brothers and sisters’ with the syndrome. He laughs a lot and has a big smile. He likes playing football what he is doing at a club (Kids-United) for special needs children (mental and/or physical). It was a long wait to find out the diagnose, but not that long as for some other parents. His mum, has written a book about their search and what it did with them when they finally had a diagnose. It is only available in Dutch language. 

(This story has been translated from Dutch into English) 

Nicolaides Baraitser Syndrome (NCBRS)