Hi, Everyone.
Welcome to my page for the Glut 1 Deficiency Foundation’s 2024 Love Someone with Glut 1 campaign. The campaign runs for two weeks, starting on Valentine’s Day and ending on Rare Disease Day at the end of February.
I have been participating in this campaign and helping to raise funds for the Glut 1 Deficiency Foundation for more than 10 years. That seems like a long time to me, and it is hard to see how just one person can make a difference. Maybe just one person can’t make much of a difference, but I understand now that change happens one person at a time.
When I was a baby and experienced my first symptoms of Glut 1 Deficiency, my doctors ran a lot of tests on me, including the test that could have led to a diagnosis. But only a few people knew anything about Glut 1 Deficiency back then, and the Glut 1 Foundation did not yet exist. My doctors had no idea what was wrong with me, and I had to wait 11 years for a diagnosis, without treatment.
I saw lots of doctors during those 11 years, but none of them could help me until finally, by chance, I happened to visit a doctor who had studied with one of the doctors who first identified my condition. She recognized my Glut 1 Deficiency right away; I started treatment, and my life was transformed. Now we know that treatment might have been so much more effective had I started when I was a baby!
My doctor also referred my parents to the Glut 1 Deficiency Foundation, which was started by some families with Glut 1 kids only a short time before. The Foundation introduced us to other doctors and researchers involved with Glut 1 and to a community of other families with kids like me!
Since then, the Foundation has welcomed many more Glut 1 families, has funded critical research, and has organized education and outreach to the medical community so that more doctors are familiar with Glut 1 Deficiency. Today, kids like me are often diagnosed earlier, so that treatment can begin when it is most effective. Research supported by the Foundation has suggested improvements and alternatives to available treatments, and may someday lead to a cure.
But the Glut 1 Deficiency Foundation still depends on its community of Glut 1 families, and their friends and families, to support its advocacy for kids like me year after year. That support comes, one person at a time, from volunteers and donors, some of whom have donated their time and money for many years. I am grateful to be able to help the Glut 1 Deficiency Foundation to help other people like me each year. I am also grateful for the generous donations to the Foundation that many of you have made for so many years. I hope you will consider joining with me to support the Glut 1 Deficiency Foundation this year as well.
Theo Proett
