Glucose Transporter Type 1 Deficiency Syndrome is a rare disorder caused by impaired glucose transport into the brain.
|Infantile seizures||Infantile seizures refractory to anticonvulsants|
|Deceleration of head growth||Deceleration of head growth|
|Delays in mental and motor development||Delays in mental and motor development|
|Ataxia||Loss of the ability to coordinate muscle movement|
Yeah Jessica has trouble in the heat (but we don't have much of that over here in the UK !! - we haven't taken her abroad) and we think she's more ataxic in the cold. I know other parents have mentioned problems in the heat. Before she comes down with a cold or virus she's far more wobbley and may have problems talking. She started walking late at 3 with help using a frame, but is starting to catch up. From what we've read all glut1 kids have great personalities. We stopped Jessica's seizure medication on her first birthday as we thought it just masked her symptoms. The diet is fantastic. I worried a lot about her head growth - but that doesn't appear to be a problem. Jessica says she hates glut1 - but it makes her even more special. I promise you'll meet some new friends on the yahoo site and be able to learn, give advice and share all things glut1.
Before the diet she had 1 grand mal seizure and thousands of drop seizures , absent seizures. She had to be watched constantly so she would not hit her head during them.....it was a nightmare however since the diet 90% of the time is seizure free. She has made amazing progess at school but will probably always have a learning delay. We love her personality now that it is now clouded by the anti seizure meds. I had no idea about the chat rooms at yahoo but will be sure to check them out. Thanks so much for the info. I have noticed our daughter does not tolerate heat well. During the summer months we are carefull not to take her out in the heat for very long. I was wondering if you noticed the same. We do see Dr. DeVivo during one of our trips we mentioned it and they said a few other families that had the same problem.
Yes the diet is worth all the hard work for sure. We were so worried when Jess was diagnosed, but realize how lucky we were with her being diagnosed at such a young age. Do you visit doctor de Vivo in NY? My wife has met Doctor klepper from Germany. Have you joined the yahoo groups - http://health.groups.yahoo.com/group/GLUT1DS/?v=1&t=search&ch=web&pub=groups&sec=group&slk=1 There's loads on us on there ;-) but i like the format of this web site and will encourage others to join. Does your daughter have seizures anymore? Jess used to have eye rolling seizures all the time but not now. She's catching the other kids in her class up with her development. i love coming across new families
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
I have had several muscle episodes the past... And in the last month had two episodes.
I am on a high...
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