Disclaimer: The information shared in this post is in no way meant to be a diagnosis or treatment for you or your child’s condition. Please know that our only intention is to share our story and help others see how we have advocated for the care and treatment of our children with a rare disease. Please consult a physician for the care of you or your child’s specific condition.
One of the best parts of going to Chicago every few years is learning about new research in the area of Neonatal Diabetes, and last year was no exception. While we were there, attending small group meetings, holding discussions with other parents, and talking to the doctors, we were told about an article that held hope for a small group of patients in our little circle of ND. This article we read basically showed that a researcher was able to close the potassium channels in cells with mutations that previously kept the channel open. What was so important about this was the drug used was an anti-epileptic drug, so by definition, it works in the brain. Up until now, we have been playing a guessing game of increasing glyburide (a sulfonylurea) in an attempt to get a dose high enough to cross the blood brain barrier. We have had some success and seen some improvements in learning, but it’s not as significant as we would hope.
So we came back from Chicago, hopeful that we could get our neurologist to prescribe this new medicine and see if we could get better improvement on it. However, it was not as easy as just showing him the article and getting the drug. While he agreed with the theory, he was visibly uncomfortable with prescribing this drug. You see, the side effects of giving a kid with absence seizures carbomazepine is that it can cause them to have grand mal seizures. Something our doctor, unfortunately, has experienced first hand and he didn’t want a repeat performance.
So we went back and forth with our neurologist, also getting our developmental pediatrician and pediatric endocrinologist involved in the discussion. They were both on board and agreed that, in theory, it should work and the benefits would outweigh any potential, short-term, side effects. There were, of course, other side effects we would have to consider. Because this medicine works on the potassium channels in the brain, would it then also close the potassium channels in the body? And if so, would we have to decrease the glyburide to prevent low blood sugars?
Fast forward to the end of February and Andy had, for the first time ever, a prolonged cluster of absence seizures, one right after the other for over an hour while at school. We ended up in the emergency room, got some blood work done (that was fun with a sensory, non-verbal kid who is 70 pounds of muscle!), and basically got sent home with a rescue medicine in case it happened again. Which it did. And the medicine did not work. So I think all of this prompted our neurologist to decide to try the new medicine. At our recent appointment, he said, we obviously need to make a change in the medicine since he’s having break-through seizures, so “we might as well try it”!
So here we are, getting ready to try this medicine that only 2 (maybe 3?) other children with our same syndrome have been on. There are no official studies to tell us what to expect. We are, in essence, patient zero. We will get some baseline testing done to see where his IQ is, his present levels of reading and math and overall behavior and self-help skills, etc. Then we start the medicine on Friday. If it works, we will possibly start Katie on it too in 3-4 weeks. If not, we continue to search for other answers like gene therapy (not so far off according to this article). Of course, nothing is as cut and dry as we would like to think in medicine. There are so many other factors to consider, so many other variables that we cannot predict. Only time will tell.
The part that is so scary about having this rare disease and being the “pioneers” in paving the way with a potential new treatment is the unknown. I am afraid of him having a grand mal seizure and me freezing, not knowing what to do. I am afraid that I will be biased and think I see improvement, where there may be none. I am hopeful that he will see improvement, but don’t really know what that will look like. I know that it will not be an obvious change like when we transitioned to the glyburide. There will be no celebration moment, like when we disconnected his insulin pump for the first time, declaring success and knowing he would now be insulin free! It’s not going to be like the movie Awakenings, where the catatonic patients all of a sudden wake up and start talking and seeming “normal”. It will be a slow process. But if it makes his life better, it will be worth the effort and the fight we just fought for almost a year to get here.