The Brief story of Viola

Written by Cossi74, published 5 months ago.

Viola was born in Rome on 09/02/2014, her weight was 3,800 kg and apparently was a very healthy child. She is the third child, after two boys, 3 and 6 years older than her.
The first months Viola slept a lot and cried a little, we thought she was a very quiet child until the epileptic crisis started around the fourth month of her life. From that moment numerous hospitalizations and treatments were started, to control drug resistant seizures. In July 2016 we got the diagnosis: mutation of the ALG-13 gene, not inherited, that enters in a clinical picture of CDG syndrome 1 L.
Today Viola has two years, her EEG is very irregular, has a accentuated hypotonia, does not communicate, needs orthopedic aids even to sit, compared to a few months ago Viola seems more present and smiles more often.
We as parents, together with the brothers, try to give her lots of love and as a reward sometimes Viola gives us a smile!
She has physical therapy five days a week and takes a mix of medications to alleviate epilepsy, he is receiving treatment at the Bambino Gesù Hospital in Rome where she has specific periodic checks for her clinical picture, and where on every occasion we find professionalism and attention.

Written by Cossi74, published 5 months ago.

One comment for «Viola»

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  • Tihana | published 5 months ago | Originally written in Italian

    Dear Cossi, welcome to RareConnect. My name is Tihana and I work as an online community manager. Thanks for sharing the story of Viola. I wish you all the best and hope on RareConnect you will find the answers you are looking for and will meet families with similar experiences.

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