Aicardi Goutières Syndrome.
This is not just a diagnosis. Right now, it is a life sentence. With very little knowledge, research or funding for Aicardi Goutières Syndrome, or AGS, the terminal outcome for those diagnosed will not improve. Imagine learning that your child or sibling has a rare and terminal disease. Now, imagine 14 years of watching your child or sibling suffer before getting this diagnosis. Years of worrying that each decision made to help may have been the wrong one. That was the case for Sofia De’Oliveira and her family.
However, there was something special about Sofia. She could light up a room and inspire others with her smile. While watching his sister experience terrible symptoms with no answers, Eduardo wrote a book about Sofia in grade school. In it, he referenced a quote by Helen Keller:
“Some people are handicapped, but we are all the same.”
After this quote, Eduardo wrote, “We are all human, we all laugh and cry, feel pain and joy.” He wanted everyone to know that his sister was no different than any of us.
Sofia’s sister, Bela, is studying to become a doctor. She wrote an article about AGS for Rare Disease Day. She explains:
“My hope is that by sharing this information, you will keep this rare diagnosis mind when treating future patients and perhaps someday you can provide a patient and their family with a much needed diagnosis.”
The goal of Sofia’s Smile is to do exactly that in honor of Sofia and her brave battle against a rare disease. Thank you for continuing Sofia’s legacy, supporting her family and aiding AGS research!
Gratefully,
Sarah Curry Rathel