William was diagnosed with Glut1 at 3.5yo. He started having absence seizures at 15mo, which is also around the time that we noticed slight developmental delay. He had two episodes of abberant gaze saccades, which prompted an overnight EEG and brain MRI. He continued to have absence seizures, despite being on numerous seizure meds. Thankfully, his neurologist sent genetic testing, which came back positive for Glut1. We are incredibly thankful that he has a diagnosis. His speech and stamina improved overnight after starting C7 oil. William's week is filled with therapies (speech, physical therapy, occupational therapy, and hippotheray). He is the happiest little boy on the block! He greets everyone and has never met a stranger. His therapists have nicknamed him "The Mayor." Donations to the Glut1 Deficiency Foundation will go towards education and research. We are hopeful for better treatment in the future and, possibly, even a cure!
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