Hello, I want to tell you my son Selim’s story. Selim is from Kayseri, Turkey. He was born in March 2014. Selim was a normal baby until he was 42 days old. He suddenly moved all his extremities and after hıccup. Rushed to hospital and lists of tests and diagnosed epilepy. MRI and an EEG he was diagnosed with Infantile Spasms, hypotonia. He started physical therapy at 3 months old.
Selim has seen several doctors and specialist. Finally hıs neurologist wanted to do a full Exome sequence genetic test. 2015 he was diagnosed with Gene Mutation DNM1. This genetic disorder was considered De Novo.
DNM1 Mutation Nucleotide Change : c.1076G>C (p.R237W)
Since our first hospital visit we have trialled a succession of anti-epileptic meds including Sabril, Keppra, Luminaletten, Synacten. None of which have been successful in the prevention of his seizures. And then we have trialled the ketogenic diet did stop seizures but only for 2 months.
Fırst MRI was normal (he was 50 days old). Second MRI result was Selebral cortıcal atrofi (he was 3.5 years old).
As of February 2018 Selim can still not sit up,crawl or walk. He can’t use his hands and arms to play with toys or any thıngs. He doesn’t speak and he has CVI. His seizures are still controlled by low doses of keppra and steroıds (for 3 months ).
He does have astigmatisms. He wears glasses to help with that. Selim is a lovely boy. He is my life source. I was excited to find you all.
Written by Feride Tiritoğlu Uçar
DNM1 genetic mutation 