After 6 years of genetic testing and numerous procedures, our daughter, Lyla was diagnosed with Glut1 deficiency disorder. Glucose Transporter Type 1 Deficiency Syndrome is a genetic disorder that impairs brain metabolism. Glucose isn’t transported properly into the brain, leaving it starving for the energy it needs to grow and function. Glut1 Deficiency is caused by a mutation in the SLC2A1 gene, which regulates the glucose transporter protein type 1 (Glut1). Glut1 is the principal transporter of glucose, the primary source of energy, across the blood-brain barrier. More than 100 different types of mutations and deletions of this gene have been found to date in Glut1 Deficiency patients. The impaired glucose transport associated with Glut1 Deficiency causes an array of symptoms which may vary considerably from one patient to another and can change and evolve over time. Some of the most common signs and symptoms may include seizures, movement disorders, speech and language disorders, and developmental delays. Not all patients experience all symptoms, especially in the milder cases. There are currently a few hundred patients diagnosed worldwide, but experts believe there are thousands more yet to be discovered.
There is currently no cure for Glut1 Deficiency. The recommended standard treatment is a ketogenic diet, which helps improve most symptoms for most patients, even in adulthood. A ketogenic diet gives the brain an alternate source of energy and helps optimize brain growth and development.
The Love Some1 with Glut1 annual campaign is the primary awareness and fundraising event for the Glut1 Deficiency Foundation. It runs from February 14-28, Valentine's Day through Rare Disease Day, and it is an important opportunity to spread awareness and raise much-needed funds to help better serve the needs of the Glut1 community.
Please visit our website to learn more about Glut1 Deficiency and the work of the G1D Foundation.