Ismael's story (born 2010)

Ismael is our beloved child born in 2010, he has a sister who was born in 2007 who loves him a lot. Ismael has always been, both in weight and height, below normal levels, but always has progressed. Since we had the first appointments with doctors, we realised that something was not quite right because of the results. When he was born we didn't see anything out of the ordinary, but as he was advancing we saw some limitations and took him to the paediatrician to give us a more specific assessment. The paediatrician referred us to a neurologist and after that to other specialists to find out how we could help him and since then we have not stopped to do medical tests (even Aarskog-Scott, Williams and Leimi-Opitz syndromes) and attend classes of stimulation, physio, speech therapy, etc.

At the approximate age of two years he had seizures, convulsions and several myoclonus, but fortunately he has not had them with the medication since

At the age of three years we were sent for consultation to the Institute of Genetics in Madrid, as all previous tests gave no explanatory result. Doctors quickly discovered he had the syndrome Nicolaides Baraitser. After a year and a half it was possible to perform genetic tests and confirmed. We were shocked, there are less than 100 cases diagnosed worldwide.

Ismael is a happy and very active child, he does not stop moving for the whole day, he is a "runner", the activity is constant but he does not speak yet virtually nothing, he communicates with us by taking our hands or pushing to tell us what he wants, such as a glass of water. He loves to put the blinds up and down, the stereo on and off, lights and doors. We cannot have a flowerpot at home because it would end up lying on the ground again and again.

He is a lovely boy, he is our bear and we love him more and more. It robs us a long time but encourages us to see that every small step forward for us is a great achievement for him. We wish him all the best in his life and we never stop to be at his side to show him the way.

(This story has been translated from Spanish into English)