One of the beneficiaries of the medical research is a 3-year-old GNAO1 warrior Epu.
What is GNAO1?
GNAO1 is a gene mutation, that causes various severe symptoms..
In some families everyday life is unpredictable and uncertain year after year due to serious diseases. One of these rare disorders is a GNAO1 gene mutation, that causes various severe symptoms. Most patients with a GNAO1 disorder are diagnosed as infants or young children.
It is still unknown what causes the mutation in the gene GNAO1. There is no known treatment or a cure. Although the genetic error cannot be corrected, a global community of scientists is currently trying to find a drug that relieves the severe symptoms.
With the right type of drug, the quality of life for GNAO1 children will be a lot better and daily lives of their families will become significantly easier.
For Epu, the mutation in the GNAO1 gene causes seizures, abnormal movement, epilepsy, and several developmental disabilities that prevent self-movement and speaking.
Despite his serious symptoms, Epu is a little charmer
bursting with joy and light. Epu likes fairy tale books, toy cars, cuddles and watching a children’s TV show “Pikku Kakkonen” with his big sister.
Epu and his family hope that there will be enough funding for the research project and one day, there will be a drug that would improve the quality of life for Epu and other GNAO1 children.