Sam’s story is almost exactly the same as any other child with Glut1 Deficiency Syndrome. The pregnancy was normal, and Sam was induced and delivered normal at 41 weeks. His first 6 months were uneventful, although I noted he developed more slowly than his brother (2 years older). Sam began Physical Therapy with First Steps at 9 months. OT and Speech were added over the next few months and have continued to this day. At about 9 months Sam had his first observed eye-dancing episode, although looking back, there may have been other episodes so fleeting that I just didn’t notice. A few months later he had a drop seizure (lost all muscle coordination). Both episodes sent us to the emergency room for various tests from MRI to CAT Scan, blood and urine samples. All tests came back normal and our neurologist had no suggestions for us. It was a long frustrating year. Sam looked almost normal, but we knew something was not right. We decided to change neurologists and went to Dr. Garg at Riley Hospital in Indianapolis who recommended a spinal tap. Dr. Garg consulted with Dr. De Vivo out of Columbia in NY. Dr. DeVivo is the definitive expert on Glut1ds and he invited us to NY to confirm the diagnosis. We made our first of three almost-annual trips NY to participate in the research study of Glut1ds when Sam was age 2. We began the Ketogenic Diet immediately following and have never looked back. Although Sam only had the two known seizures, Sam’s disposition changed dramatically after converting to the Ketogenic diet. It is hard to describe, but the best I can say is he was much more content.
Sam began school in Early Childhood at age 3 and was promoted into Kindergarten with his peers. Although Sam did not speak until age 4 or walk independently until age 5, his comprehension was solid. Sam continues to have PT, OT, ST in school, with hippotherapy or therapeutic riding year round (began at age 5) and occasional tutoring in the summer. Our family has moved to 4 different states since Sam’s diagnosis, but with his IEP and a full-time aide Sam continues to be mainstream in school. Although no medical doctors we met in each location had ever heard about Glut1ds, we do our best to educate and inform. Sam can walk, but not jump or run, and he requires assistance with personal hygiene and manipulating many clothing items such as snaps, buttons, laces and zippers. He is almost always happy and he loves football, swimming, riding and his dog Louie.
I have been preparing ketogenic meals for Sam for almost 8 years now. Although it requires some planning and preparation, I would never consider not doing it. Sam has never complained and has never had a seizure since going on the diet. He is the most pleasant, happy, hardworking, kind, empathetic, and patient child. He has been beloved by every therapist, teacher and fellow student no matter where we have lived. Sam helps us all to keep everything in perspective and I thank God for him.