Overcome Syngap 1 was created on March, 29th 2016, on the very day Côme, our amazing and beloved son and nephew, turned 8. Côme got diagnosed with this rare genetic disease when he was 4.
Côme was born on March, 29th 2008, in Montreal, a beautiful baby of 4 kilos, with big cheeks and awesome green eyes, and the third child of the family. How
ever, after a few months, his parents realized that their chubby baby boy was rather hypotonic, and was presenting some signs of development delays.
This was the beginning of a long journey, 3 intense years of stimulation sessions: ergo therapy, physiotherapy, speech therapy… and nearly every other form of stimulation, related to autism, since no specific diagnosis had yet been made to explain his delay: Padovan, ABA, TEACCH, etc.
Despite all the sessions and heavy stimulations, no major improvement could be noticed. Yet, he was always nice and happy, and trying his best in every session.
Right after he finally started to walk at nearly 3, a huge step in his development, he unfortunately showed light seizures – a rare form of epilepsy. From light seizures every other day, it became 30-40 seizures a day, with sometimes a full black-out where he was falling on the floor and hurting his face.
This is because of epilepsy that Côme met Dr Michaud, geneticist at the Ste Justine hospital. After few blood tests on his parents and Côme, he was able to identify a De Novo gene atrophy in his sequence: the Syngap1 gene. There was finally a name and an explanation for his troubles!
From then on, his parents focused on fighting the most urgent priority for him: his epilepsy seizures. It took them 3 different treatments to eventually find a miraculous one: the ketogenic diet, a very strict diet that Côme had to follow for 2 years. Living without seizures completely changed his life as it has allowed him to focus on other tasks, be less anxious to move around and learn other things.
Now that his epilepsy is under control, it’s time for them to fight the real issue: his genetic disorder.
Only deep and ongoing research will allow the geneticists to find a way to cure the genes. It means more researchers appointed to this study, more students, more tests (to identify new patients), more equipment…
That’s why a group of family members and friends – united to raise awareness on the Syngap1 disease and raise funds to hopefully find a cure – decided to create this foundation, Overcome Syngap 1, not only for Côme, but for all the little boys and girls, and their families, who have or will have to live with this genetic disorder.
Let’s try and raise funds to support the research, to give the researchers the means to actually find a possible treatment.
Thank you in advance for your support!
The OvercomeSyngap1 board and all the family and friends who want to make a difference!