Nicolaides Baraitser Syndrome (NCBRS)

Loris's Story (born 2009)

Loris was born on January 16th 2009, his weight was around 3,090 kg. Immediately, I felt he was different when I met him for the first time. I told myself “no, he is just a little wrinkled, it is normal, he is a baby”. Feeding was very difficult for him, he did not suckle correctly, maybe because of his ogival hard palate that no paediatrician had seen!!! When he was younger, he had many refluxes. When he was eating, he was spitting it but in too much quantity.

At five months, his weight was going down. The paediatrician was not worried about it and he told me to let Loris take his time. When he was six months, Loris was living at my parents' house because I was going back to work, and he did not go to a nursery. Fortunately (if we can say that!!) Loris was being sick, and when the doctor examined him, he saw Loris had a problem. So, he told me to visit another paediatrician in order to effectuate a lot of examinations. (magnetic resonance imaging, electrocardiograms, abdominal ultrasound...)

During two years, we did a lot of examinations without any results. He was very weak, so he was easily infected by all kind of illnesses. We can also add it was difficult for him to heal. After having consultations with dermatologists, neuro paediatricians, gastroenterologists, Specialists have suspected genetic defects/anomalies. One day it could be an anomaly without significant consequences, the other day the anomaly could be very hazardous. After that, they explained to us that Loris could have a genetic neurodevelopment disease, but for the moment specialists cannot tell us precisely what disease it is.

There was a lot of tears, feeling of culpability, incomprehension and uncertainty toward the future because we have no answer in front of Loris 's disease. How did you stay strong? Thanks to our family, our friends of course, but above all thanks to this little boy with his lovely smile, his very expressive eye, his hugs that give us happiness.

Two years later, on October 4th 2013, the unexpected diagnosis was revealed : Loris had NICOLAIDES-BARAITSER syndrome (NCBRS). We were very happy and relieved to know the diagnosis, after waiting 4 years. You have no idea... the alleviation and the feeling of fear it was when we learnt it !!! Of course, as many parents, we did a lot of searches on the web, but it was a big surprise : NOTHING !! We only found a link on the social media Facebook, created by families, looking for support and talks with other families. A big progress was the exceptional meeting we did in Manchester in May 2014, we met a new family, our family. I was very satisfied to see all these children, happy, loving their life, feeling good. With their beautiful smile, we forbid during short moments our daily life and our fears.

I would like to thank Helen Robinson who has spent her time and her energy on creating this international website, thank you to these marvellous families for all their messages describing their daily lives.

Of course, Loris is fine for the moment (no seizures) but we have a look on him permanently. Loris is fond of dancing and listening music. I am proud to tell you that I have registered Loris to dancing lessons, and lessons will begin on September 2015. I am in a hurry to send you photos and videos.

(This story has been translated from French into English)

Nicolaides Baraitser Syndrome (NCBRS)