Fields Taylor was 15 weeks old when she had her first seizure. They continued for months as doctors were unable to determine what was wrong. Then another seizure led to more tests and the discovery that Fields has low sugar levels. Follow-ups revealed variations to her genetic structure and eventually she was diagnosed with GLUT1 deficiency syndrome.
GLUT1 DS is an extremely rare condition that’s estimated to affect only 500 people worldwide.
Stevie, Fields’ mom, desperately wanted a diagnosis for her daughter. While people dislike being places into categories, with a rare illness, a label means knowing what to do next.
What they can do, unfortunately, isn’t much. There are no approved pharmacological treatments for GLUT1 deficiency, though ongoing research will hopefully change that. Instead, Fields will rely on a ketogenic diet, which is high in fat and low in carbohydrates with moderate levels of protein.
In GLUT1 deficiency, the body has an inadequate supply of GLUT1, a protein that helps transport glucose from the blood stream to the brain. Glucose is the brain’s primary energy source. Without it, cognitive function declines.
By reducing carbohydrates, the ketogenic diet attempts to work around the body’s inability to properly transport glucose. Instead, it steers the body (and the brain) to fats as an alternate energy source.
In addition to her seizures, Fields also experienced several developmental delays as a result of GLUT1 deficiency. Although she could stand and walk a few steps with support, she was non-verbal. Now, there’s hope some of the cognitive dysfunction will decline and Fields will be able to make progress.
According to Stevie, Fields’ doctor has treated at least one other child with GLUT1 deficiency. The boy was barely able to walk properly, but after three weeks on the ketogenic diet, “he waltzed into his office and he had to question whether it was the same child.”
We’re certainly hoping for the best for Fields.
Because GLUT1 deficiency is so rare, it can be helpful for parents of affected children to connect and share stories. Which is why we believe the community we have here at PatientWorthy is essential!