A momma knows. I knew something wasn’t right with Abby the day we brought her home from the hospital but I was told I was just a worried mom. Time goes on & she’s not rolling over, sitting up or meeting any of the infant & later the toddler milestones. She drooled so much that she had to wear a bib all of the time. Once she was able to stand she was very wobbly & falling all of the time. We had to get her a helmet to prevent head injuries from these falls, especially once she was able to take some steps. She wore orthotics due to dragging her toes once she was doing some walking. She was in physical therapy starting at 6 weeks of age then speech therapy around a year of age because she wasn’t saying the simplest words. We could never tell if her cries were from being thirsty, hungry or what she was needing. Around 1.5 years of age she had her first absence seizure. These became 20-30 a day. So, we had to worry about injury when these occurred because she would fall. During all of this we were visiting pediatricians, a geneticist, had hearing tests done, met with a behavior specialist, met with a pediatric ophthalmologist & pediatric neurologists. Countless blood tests, EEG, CT scans & MRI tests & nobody could find the cause for her problems. One doctor said, “If this is a genetic disorder it can be like finding a needle in a haystack. We may never find it. If we do find the answer most of the time nothing can be done to help.” Hearing that was gut wrenching & a lot of the things they were looking for caused short lifespans so we always had in the back our heads the question…how long do we get to have her with us?
Thankfully, one of these tests gave us her diagnosis! We got that phone call that changed her & our lives just days before her 6th birthday. My husband called me at work & we were both crying because we finally had an answer AND there is a treatment AND no shortened lifespan! We are thankful but a cure would be best. Please help in that goal
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