top of page


Gabriele is a beautiful 9-year-old boy with a captivating smile and two eyes as blue as the sky. We live in Florence, Italy and when he was born in 2014, the YWHAG gene had not yet been discovered.

Gabriele had his first tonic clonic seizure at 6 and a half months: since then he has been treated with antiepileptics but being drug resistant we have not yet found the right cure and he continues to have absences and myoclonus. Over time, cognitive and speech therapy delay, ataxia, a renal malformation, strabismus and motor difficulties emerged. Despite everything today Gabriele walks, plays, makes himself understood and has embarked on a school career.

The road has been tough: after 5 years of clinical research and evaluations, we discovered the YWHAG gene mutation. We were alone, there was talk of other kids with the same mutation in the world and we decided to look for families on the web. Thanks to the creation of the "Gabriele gene YWHAG Italia" Facebook page, we met other families who gathered on another FB page. Since then, we have understood that we are not alone and that many other children (and more and more) have the same mutation as Gabriele; including in Denmark, USA, the United Kingdom, Spain, Australia, Brazil, Switzerland, Portugal, Italy, etc. Since our outreach began, our days have been filled with friendly faces and the knowledge that there are people like us who are looking for therapies and strategies to help and develop their children.

Psychotherapy, speech therapy, stimulation of all kinds, scholastic support, sports, technological tools, educational games, physiotherapy are our daily bread and thanks to all this Gabriele is what he is today. Our life has changed, our way of talking, travelling, being with others, working ....It was and is hard because at the beginning. We only saw darkness and then our brain and our heart began to organize everything in function of Gabriel.

Unfortunately, epilepsy remains a heavy baggage: the crises and the medicines themselves affect attention, mood, resistance, sleep and there are periods in which all the work done seems lost ...In reality it is necessary to be constant, to understand the moment but to see your child come back is a piercing pain!

The fundamental key to a better quality of life for our children is to collaborate, find valid doctors and researchers, rely on authentic medicine and never stop sharing experiences, asking, knocking ....Because we are the instrument through which our "YWHAG boys&girls" can hope for the future!

*This page has been translated for your convenience using translation software powered by third party services, such as Google Translate. Reasonable efforts have been made to provide an accurate translation, however, no automated translation is perfect nor is it intended to replace human translators. 

bottom of page