This is the story of our son, Yoann who is 7. We are living in the South of France, in Aix-en-Provence, and we found recently in the Imagine Institute in Paris a De Novo DNM1 mutation.
DNM1 Mutation Protein Change : p.Gly359Ala
DNM1 Mutation Nucleotide Change : c.1076G>C
Yoann has a delay development, he doesn’t speak and he still wears nappies. We realised when he was 6 months old that something was wrong. He had a general hypotonia, he started to sit up when he was one and half years old and he started to walk when he was three years old. It was very difficult for us to catch his eye, nevertheless, we had the impression that our son was completely different when he was in lying position, much more connected with us.
Yoann got the following medical exams:
- Two MRI, one when he was one year old and the second when he was two, nothing meaningful
- Three EEG, the first when he was 1, the second when he was 5 and the last in April 2016, nothing meaningful for the three
- A brain scanner, four months ago, nothing meaningful
- And others exams with the same result, nothing meaningful
Yoann had his first meaningful epileptic seizure with spasms in October 2015. Nevertheless, we observed when he ate he had atypical blanks for about two years. Since his first meaningful epileptic seizure, he took some sodium valproate (Depakine) and then he had no more atypical blanks for a while (about 3 months). Today, even if he took sodium valproate and the dose has been increased, he continues to have atypical blanks during the meals. But he never had an another meaningful epileptic seizure.
Yoann had never seizures or spasms before his first epileptic seizure (grand mal) in October 2015. Due to his developmental delay, Yoann had always had some autistic behaviors but the doctors never thought he was an autistic child. Today, Yoann goes to the school with a personal accompanying three days per week but he is not yet in a learning process, he is followed by a practice of behavioral psychology to work with him the apprenticeships and his autonomy. He has two sessions with a psycho-motor therapist and he is followed by a speech therapist to work the swallowing because Yoann dribbles and to work the communication. Early, we have put in place sessions with: – physiotherapist – psycho-motor therapist – orthoptist – speech therapist – the practice of behavioral psychology.
In conclusion, even if Yoann has a DNM1 mutation, the EEG is not meaningful, he had only one meaningful epileptic seizure and therefore according to the doctors, we cannot say that the DNM1 mutation is the cause of his problems.
As parents, we are convinced that there is a connection between the epileptic problem of Yoann, even if it is not severe (no meaningful epileptic seizure recurred but blanks,…) and his problems of development. At which level? we don’t know…
DNM1 genetic mutation 