Tobey's Lifelong Journey with GLUT1

Tobey is 5 weeks old, and at just four weeks he was taken to the ER for infantile spasms, or seizures. He was then admitted to nationwide children’s hospital for further testing to figure out why he was having these. They originally thought it was from an infection, but when they did his spinal tap they found he had very low glucose in his spinal fluid, pointing them the direction of a genetic disorder called GLUT1DS or glut 1 deficiency. His blood test came back after being in the hospital for 5 days showing two mutations in the gene associated with glut1 and he was officially diagnosed.

“Glut1 deficiency syndrome is a rare genetic disorder that affects the brains energy supply by impairing glucose transport across the blood-brain barrier”

“Glut1 has no cure, but treatment focuses on managing symptoms. The primary treatment is a medically supervised ketogenic diet, which is high in fat and protein and very low in carbohydrates. The body produces ketones from the diet, which the brain can use for fuel instead of glucose”

There are only a few thousand people worldwide with this diagnosis, and it has only been known about since 1991 and there are new discoveries about the disorder everyday.

There is a possibility of Tobeys deficiency being recessive, which means that it may be a more severe case, but there is further testing being done for that.

Tobey, his mom Abigail, and his dad Jack, are still in the hospital getting his diet set up and corrected to get him on the right path. Tobey is still having seizures and has had to be given rescue medicine for them, they are hoping to send him home without being on a continuous medicine but they’re not sure if they’ll be able to do that yet.

Because this is a genetic disorder, it will be a life long battle and there are so many unknowns especially with no two people with glut1 who are affected in the same way. We are not sure how severe Tobey’s condition is yet, but there’s a chance for lifelong seizures, learning disabilities, physical disabilities, diet change, speech issues and delay, partial paralysis, underdevelopment muscles, and being delayed.

Because of this, they are in an uphill battle with medical appointments well over an hour away and even possibly across state, and they have already been in the hospital for a week, hoping to be released in a few more days.

Jack has missed work and will miss more work, although his job is very understanding. The new expenses and travel/food expenses as well as caring for their girls while mom and dad are with Tobey has Jack and Abi financially strapped. This is just the beginning. Any help and or prayers is very appreciated. Thank you so much!