Is anyone familiar with GLUT1 DS aka DeVivo Disease? Some genetic testing seems to indicate this is why Eric has epilepsy. I find very little information regarding this disease. Any information would be greatly appreciated. Does anyone know if there is a support group similar to what we have here regarding GLUT1?
I'm not familiar with this genetic disorder but my DD also has a genetic abnormality which has been showed to cause seizures in some that have it. Unique is a website/organization that helps people with any type of chromosome abnormality and I'm sure they can help you. They are a wonderful organization filled with information even on the rarest of disorders. I hope this helps you. Take care. Nancy
Have they mentioned the ketogenic diet to you yet?
It regarded as being the best treatment for glut1.
Here are some groups that might be helpful to you
I am not sure if the Dravet message board would be part of this... (SCN1a)
A lumbar puncture last week to check ratio of CSF to glucose resulted in normal numbers...so Eric doesn't have GLUT1 DS but he does still have epilepsy. In a way I'm relieved and in another way I'm disappointed. It's not important that we know the cause of Eric's epilepsy...I guess it's just human nature wanting to know the answer. It doesn't really matter what the answer is though because he's still my prince Eric and I'm thankful God chose me as his mom!
thanks for all the info -