Glut1 Deficiency is very rare and hard to diagnose. I began showing symptoms pretty early. I was hitting all my major milestones on the low end of normal and wasn't a very verbal baby. I had my first movement disorder (wiggles) when I was around 2 years old. When this would happen I couldn't walk, I slurred my words, and I would just break down in tears of feeling defeated by my own body. As a child, the wiggles were treated with very sugary snacks, like Orange Juice or Cosmic Brownies. Once I started school learning was very difficult, although I loved to learn new things. The stress of everyday life really affected my wiggles, test days, bullies, changes at home all could correlate with the likelihood of me having wiggles. I still didn't have an official diagnosis, I was diagnosed as Developmentally Delayed for a very long time.
It wasn't until high school when I changed neurologists and we finally caught the wiggles on video that a little more energy got put into saying I wasn't just developmentally delayed. When I was 18 my neurologist continued watching the video of my wiggles, trying to mark out everything it wasn't, until one-day that summer she attended the Glut1 Deficiency Foundation Conference in Indianapolis. She called my mom from the conference and they got a Lumbar Puncture Scheduled. I was officially diagnosed with Glut1 Deficiency Syndrome in 2012. I was 18 years old and my symptoms started to improve after starting the Modified Atkins Diet. I have been on this diet for 7.5 years and have graduated high school, college, and learned many new skills for life ahead.
Not everyone with Glut1 has gotten to live the life I do. Many patients still suffer from seizures, others are nonresponsive to the diet, and some are still going undiagnosed as I did for so long. Please consider donating because it really will change many families' lives.
The Love Some1 with Glut1 annual campaign is the signature awareness and fundraising event for the Glut1 Deficiency Foundation, running from February 14-29, Valentine's Day through Rare Disease Day. It is an important opportunity to educate others and raise much-needed funds to help better serve the needs of our patient community through our mission programs for increased awareness, improved education, advocacy for patients and families, and support and funding for research.
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