This week’s blog is written by Isabela Ribeiro, mother to three-year-old Alice who was diagnosed with Infantile Neuroaxonal Dystrophy (INAD). Isabela became a volunteer at the INADcure foundation after her daughter was diagnosed with the ultra-rare disease INAD. She has been raising awareness of this unknown rare condition ever since in Brazil and beyond. This is Isabela and Alice’s story!
My name is Isabela and I am Alice’s mother, who is three years old. We are from Brazil!
I always dreamed of being a mother. When I found out that I was pregnant with Alice, it was a dream come true! I had a smooth pregnancy and everything went well. I prepared everything with a lot of love and affection for the arrival of my sweet Alice. When I first saw Alice, our date was a meeting of souls. A love too strong to explain!
Alice had her normal development until she was 18 months old. Alice sat alone, crawled and walked with support. After 18 months, we noticed a regression in her development. Gradually, she lost her acquired skills! It was nerve-racking when I realized that Alice didn’t want to crawl and walk because she was no longer able to do so.
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 which affects the central nervous system. A mutation in the PLA2G6 gene!
Unfortunately, this devastating disease has no cure or treatment! There are researchers searching for a cure for Infant Neuroaxonal Dystrophy (INAD), but because it is an ultra-rare disease, there is little funding to help with the research. The INADcure Foundation is the only non-profit foundation that raises funds to support this research together with families! We need to make INAD a better known disease, so there are more studies and advances in research to save the lives of children affected by this cruel disease.