Amazing Grace's Love Some1 with Glut1 2022 Fundraiser

by Joanna Snyder

Supporting: Love Some1 with Glut1 2022 for Glut1 Deficiency Foundation



Meet our Amazing Grace! Gracie was born a healthy, beautiful baby girl in the spring of 2006. Shortly after birth, we noticed unusual behavior from myoclonic jerks in her arms & legs, eyes rolling about in her head for minutes at a time, floppy baby and developmental delays. Later that year Gracie was diagnosed with epilepsy and put on anticonvulsant drugs which controlled one type of seizure but then another type appeared. Drugs were changed but she never gained true seizure freedom as her symptoms and developmental delays worsened. We were on a mission to find out what was causing our baby to have seizures, low muscle tone, ataxia and major delays in development to name a few.

Just before her second birthday we met with a specialist who listened to all of pieces of the medical/symptomatic puzzle. He felt that Gracie had an incredibly rare genetic disorder called Glut1 Deficiency Syndrome, a brain metabolic disorder.

A genetic test was also ordered which gave us 100% confirmation that she indeed had Glut1-ds. Gracie was the 86th person in the world to be diagnosed with this incredibly rare disorder. 86 out of 6.6 billion!! Today there are approximately 500 diagnosed cases and still so rare.

This early diagnosis gave Gracie a chance at life! She began the ketogenic diet, a medically prescribed diet that is high in fat, low in carbohydrates and moderate protein. Her seizures decreased, symptoms lessened, she eventually learned to walk and talk and run and play and live her best life. 

Gracie is now almost 16! She remains on keto and will forever unless a better treatment option is discovered. Join us in raising funds and awareness for our Amazing Grace and others with Glut1-ds. Your support means so much to our family and we are forever grateful to each and every one of you!

Each year, from Valentine's Day to Rare Disease Day, the Glut1 Deficiency Foundation hosts the Love Some1 with Glut1 campaignIt is an important opportunity to increase awareness and educate others about this rare disease while raising essential funds to help better serve the needs of our patient community through our mission programs.

In addition to our regular activities, we are working on some big and important goals for 2022

  • host our 9th family conference to bring families together to meet, share, and learn 
  • host our 2nd scientific convening for researchers and clinicians to exchange knowledge and ideas 
  • launch our Research Roundtable program to build a collaborative research network 
  • begin implementing and funding our newly developed patient-led Research Compass
  • launch a natural history study to better understand life-long patient experiences
  • expand our educational exhibits to reach and teach new audiences of medical professionals
  • create a new website to serve as a hub for information, support, connection, and hope

All of this year's campaign donations will be used to drive research progress and provide funding for projects in our new Research Compass.

Thank you for your part in helping us reach our goals and supporting our mission as we continue our work to bring help and hope to everyone, everywhere, who is affected by Glut1. 

Shine Like Some1 with Glut1

learn more about Glut1 Deficiency

from our brochure here

How would you like to support?