On the day Remi Savioz was born, it seemed that the world had welcomed a perfectly normal healthy baby girl. On day three, that illusion was shattered when she began having unexplained seizures, and a host of other medical problems including dystonia, fevers, and low muscle tone. As she got older, the usual milestones were greatly delayed. She didn’t sit up by herself until the age of four, and she was five before she began walking.Finally, after eight years of traveling coast-to-coast in search of answers, her parents brought her to Cleveland Clinic where a multidisciplinary board of physicians independently reviewed her medical history. They concluded correctly that Remi was suffering from Glut 1 deficiency syndrome. This is a metabolic neurological disorder wherein the body doesn’t produce sufficient amounts of the protein required for glucose to pass through the blood-brain barrier.
At the time of Remi’s diagnosis, there were less than 100 known cases of Glut 1 in the United States, but the number has steadily climbed as awareness has increased. And, although Glut 1 is a genetic disease, the overwhelming majority of patients don’t get it from genes passed on from their parents–instead, it’s caused by a genetic mutation.
Remi is treated with a ketogenic diet, which is high in fat, and low in carbohydrates. While effective in lessening the brains seizure activity, there are side effects such as high blood lipids, and the possibility of kidney damage, so Remi is tested monthly to make sure she’s maintaining healthy triglycerides and lipids, and her kidney function is also tested monthly.
To help raise awareness about Glut 1 and other rare diseases, her parents began the RSG1 Foundation. The Foundation’s mission is to educate people about brain tumors, cancer, and neurological diseases.