When she was 9 weeks old, E had her first seizure. She was admitted to the hospital and had extensive testing done, but the doctors had no idea what had caused her seizure. Three weeks later, she had her second seizure. And then they started coming every 6 to 15 days.
Fast forward to November 18, 2016. E's neurologist called me to give me the results of the genetic testing on E, me, and her father. The diagnosis: Glucose Transporter Type 1 Deficiency, aka Glut1. He directed me to the Glut1 Deficiency Foundation and the National Institute of Health to read up on the condition, and as I read what my daughter had been sentenced to for life, I could not stop the tears. I was devastated that my beautiful baby girl would have to live with a disease which would rob her of a "normal" life.
E is lucky. At this point, her doctors and I are able to "control" her Glut1 without having to go on the ketogenic diet. There is no cure for Glut1. There are no medications for Glut1. As a rare disease, research into Glut1 is severely underfunded. E's primary specialist has told me that she is "blessed" because her symptoms are so mild compared to some patients with Glut 1, and for that I am grateful every day, but it doesn't mean she doesn't have some serious challenges. E's big seizures only happen a few times a year now, but she has absence seizures all the time. E also has several additional disabilities because of her Glut1: weak core muscles, a learning delay and disability, executive functioning delay, etc., etc.
The Glut1 Deficiency Foundation plays an important role in helping to educate people about Glut1 and to fund research into possible treatment options for Glut1. As Some1 who Loves Some1 with Glut1, I hope you will make a donation to help the doctor's researching Glut1 find more effective treatments or, even better, a cure.
On behalf of E, thank you for "Loving Some1 with Glut1."
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.