Hello, my name is Roman, I was born in June 2015 and I live in France next to Toulouse. My KCNA2 gene mutation is the one mixingGain/Loss Function.
My story started from the day I was born: I made a lot of movements in all directions, I couldn’t suck mom’s breast and I needed special positions to fall asleep. After a year of tests, medical and examinations and genetic tests, the verdict fell:
I have a mutation in the KCNA2 gene!
In my case, I’m very disabled and not very epileptic. I can’t hold my head because my neck is too weak and I’m “soft/flabby”.I mean I can’t control my whole bodyand my muscles so I can’t sit down and I’ll never walk. About interactions, I don’t speak at all because I can’t, I don’t eat (I’m nourished with the help of a gastrostomy) and I only react to some voices or some sounds!
But let me assure you, I’m always smiling: Happy Face and Big Smile! I’m always happy!! Maybe it’s just because I’m surrounded by Love and Kindness from my whole family!
If you want to follow my adventures, come and see me on my facebook page :
https://fr-fr.facebook.com/unromandamour/
or on my website :
https://www.unromandamour.com/
Kisses – Lots of Love!
Roman.