By Isabela, Infantile neuroaxonal dystrophy, Brazil, August 23, 2021
My name is Isabela, I am Alice's mother who is 3 years old. We are from Brazil!
Alice had her normal development until she was 18 months old. Alice sat alone, crawled and walked with support. After she was 18 months old, we noticed a regression in her development. Gradually, she was losing her acquired skills! It was nerve-racking when I realized that Alice didn't want to crawl and walk because she wasn't doing it.
After many tests and medical consultations we found out through a genetic test that Alice has an ultra-rare neurodegenerative disease called Infantile Neuroaxonal Dystrophy (INAD). A disease that affects the central nervous system. A mutation in the PLA2G6 gene!
Unfortunately this devastating disease has no cure and no treatment! There are researchers who are trying to find a cure for Infantile Neuroaxonal Dystrophy (INAD). But because it is an ultra-rare disease, there is little funding to help with research. The INADcure Foundation is the only non-profit that raises funds to fund this research together with families!
We need to make INAD a better known disease, so that there is more studies and research to save the lives of children affected by this cruel disease.