Nicolaides Baraitser Syndrome NCBRS

Lena's Story (born 2008)

Lena was born on 2nd February 2008 with a birth weight of 1,8 kg and 42 cm. Apart from the fact that she was very small and thin, there was no difference between her and her brother and sisters. The doctor called her the miracle baby as I had a Reanastomosis at the age of 43. One month later I was pregnant. No doctor could believe it.

Lena had to stay in the incubator and was tube-fed as she had difficulties to thrive. She developed an umbilical hernia which she still has today. As it is very big, so not dangerous, the doctors don’t want to bother her. Finally she was already released after 3 weeks with a weight of 2 kg as she was my 4th child. It became obvious that feeding her would take all of our time. We tried to feed her as much as possible at night because then she didn’t realise it. She never felt hungry. She was often crying and it was clear that she needed the same structure all over again. Once we did something out of her routine, she was very difficult for days. She started to have eczema very badly as well.

When she was 1 year old, we went to the hospital concerning her feeding problems. That doctor said he would put us in touch with a nutrition team but also with geneticists as he could see from some features like sparse hair, strange fingers, that this could be a genetic disease.
We were seen by a geneticist who had no clue what she had but took blood of the 3 of us. The whole team observed her very thoroughly. 6 months later we got the result as there had just been the publication of an article about NCBRS. He could not prove it yet but was sure that Lena had NCBRS due to the similarities of the described children in the article and the physical resemblance.

Nicolaides Baraitser Syndrome NCBRS

At the age of 2 Lena could say a few words but then started to have seizures and regressed a lot. Until now, no speech at all. She just babbles a lot. She had all kind of seizures. Going to 100/day. Only once she had one for more than 1 hour. She has been on Depakine, Tegretol, Keppra, … In December 2013 she had surgery (VNS – Vagus Nerve Stimulation). Despite that, she still has seizures. Not on a daily basis but certainly a few per week. But since the surgery, she sleeps much better and she is much more relax. She’s still on medication (lamotrigine and phenobarbital) for the seizures. In general, Lena is a very happy chap but can have very bad periods as well. Not always related to the seizures though.

Until November 2014, she was going to a school for children with special needs. She liked it there and they were very good with her except for the epilepsy. Each day when picking her up, we noticed that she lost again a tooth, or broke her nose, or had very big bruises. So we decided to look for another solution and found it. Since November 2014, she’s going to a day care centre and that is just PARADISE ! Only 25 children, all divided in groups of 4/5 and almost all the children have epilepsy. Since then, you could see that Lena was the most happy child in the world. As it is not a school structure, they follow the rhythm of the child. If she wants to sleep, she can go to her own bed, if she wants to do nothing, no problem, she can just relax. They always propose to do things and it seems that Lena accepts much better now to give back a toy and take another one or to accept one that they impose. Something we could not imagine because when she likes something, she gets completely obsessed by it. Which helps very much for the feeding. She’s still bottle fed with caloric food. Takes her favourite toy in a hand or sometimes two toys and watches her favourite animation movie or music on our cell phone or tablet.

Last year in September, we saw that her back was not straight anymore. As we had to see the neurologist in October, we asked her to have a consult together with an orthopaedist. They took an x-ray but he said it was certainly not alarming. We had to see him 6 months later but finally saw him only in June due to family problems. They took again an x-ray and that was a real shock. They decided she needed a brace immediately. Since July she wears it. Until now not very often due to the heat but we will build it up slowly. Surprisingly, she’s not complaining too much. We know it is not always easy to manage the situation with such a child, but she has given us already so many lessons in life, that it is a blessing to have her. The last one was with her brace. She accepts it as if it was the most normal thing in life to wear. As like many others, she likes music and dancing.

Nicolaides Baraitser Syndrome NCBRS