Max Update

As promised in a prior post, I have an update on Max's epilepsy. The genetics test came back, and we found out what is causing his epilepsy. He has an abnormal gene. His SLC2A1 gene is deficient, or you can say he has GLUT1 deficiency. 

This abnormal gene provides instructions for producing a protein called the glucose transporter protein type 1 (GLUT1).  In the brain, GLUT1 protein is involved in moving glucose from the bloodstream into the cerebrospinal fluid, which surrounds the brain. Basically, this gene is in charge of transporting glucose to and from your brain. And, glucose is the brain's main energy source and seizures can occur when glucose is not properly transported into the brain. When this gene is deficient it impairs your brain's metabolism. Everybody is different and it really depends on how your body handles GLUT1 deficiency. It causes seizures in many people, but not all people. 

Some of the triggers that can cause a seizure in a GLUT1 deficient person are fatigue, anxiety, excitement, strong emotional reactions, excessive exercise, hunger, illness, hormones, and temperature changes. So, what can we do to help Max? The answer is, not much. The only thing that can help a GLUT1 deficient person is a keto diet. If you know anything about keto diets you know it would be terrible for children. It's very strict and if the child who is on the diet slips up one time it could cause a grand mal seizure. So, doctors don't like to prescribe a keto diet unless medicine doesn't work. In this case, medicine does work for Max. He has not had a grand mal seizure since he's been on his medication and it has helped manage his myoclonic jerks (small seizures). I have only spoken to the nurse for Max's neurologist and have yet to speak to the doctor. The nurse said she can't imagine the doctor will prescribe the diet since the medicine is working and we will probably continue on with what we are currently doing. I did learn though that a proper diet and hydration are very helpful with GLUT1. 

It's said that this is a rare genetic disorder since there are only 500 cases on record, but that's technically not true. They don't have an accurate number because insurance tends to decline genetic testing in epileptic patients and genetic testing is the only way to find out if you are deficient. Also, it's been said that many children are misdiagnosed and I can only assume that's because the genetic testing didn't happen. 

With that said, the genetics testing showed that Max got this deficient gene from me. I carry the same deficient gene. The nurse asked if I ever had epilepsy and not that I, or my parents, know of. I never had an actual seizure. But, when you read about GLUT1 deficiency I can relate to a lot of the symptoms over the years. 

This answer really helps me feel a lot better just knowing what is causing his epilepsy. I feel like a huge weight has been lifted off my shoulders. It explains a lot about his exhaustion if he plays too hard and how he can fall asleep anywhere. This just really answers a lot of questions and helps us be more understanding. One thing that I have to ask his doctor is if he can still grow out of this. I read online that it's still possible, but I would like to hear what his neurologist has to say since he knows Max.