Eleanor is 2 and a half years old and has Glut1 Deficiency Syndrome. She was born at 32 weeks at 4 pounds 4 ounces and had a month-long NICU stay. At 6 weeks old, she began showing symptoms (spasms and two unresponsive episodes). She had her first lumbar puncture at this time which indicated Glut1 shortly followed by two more LPs that confirmed those results. After genetic testing at 3 months old coming back negative for the SLC2A1 gene mutation, we were initially given good news that she didn’t have Glut1.
Eleanor began having more seizure-like episodes at 4 months old and was diagnosed with acid reflux instead by her pediatrician. We later found out that all of those episodes were in fact seizures.
At 18 months old, Eleanor still wasn’t walking and began having rapid eye movements so, with Glut1DS still in the back of our heads, we requested further testing. After several MRIs, CTs, EEGs, and an additional LP and PET scan, it was determined that she has Glut1DS without the genetic component. She began walking at 19 months old.
In August 2021, Eleanor was put on a ketogenic diet. With the help of speech and occupational therapy, her coordination has improved tremendously and she’s now talking more with 2-3 word phrases! She’s part of the Rare Genomes Project through the Broad Institute of MIT and Harvard with the hope of helping other kids just like her with rare or genetically undiagnosed conditions.
Each year, from Valentine's Day to Rare Disease Day, the Glut1 Deficiency Foundation hosts the Love Some1 with Glut1 campaign. It 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
Shine Like Some1 with Glut1
learn more about Glut1 Deficiency
from our brochure here