I have been meaning to update this blog for a long time - but even though I lie in bed, thinking of what I need to say - there never seems to be time to actually do it. This may be a very quick post - depends on how long I have before someone needs me!
Many of you know that Kael has had a very rough year. We have tried medication after medication, as well as the Ketogenic diet, but with no success. Nothing really makes an impact on his seizures. No matter how high we go on the drugs, he seems to always have at least 10-15 seizures a month. The drugs have horrible side effects, which leave him drunk and zombie-like, or with horrible tremors, or in some cases, new seizure types. Our Doctor has tried every drug combination. Each time, we have hope that this will be the combination that will provide at least a little relief. Initially, we usually seem some improvement - but the seizures always come back to the same level.
Michael and I have wrestled with treatment options for Kael. There is no clear path to choose - we just have to take a leap and hope for the best. So we have chosen to reduce his meds as far as we can without negative side effects. He has been on Stiripentol and Clobazam for about 3 years. We have not messed with these drugs for fear of status seizures returning. Although Kael has a lot of seizures (this month, 26 so far), they are all about a minute long. He used to have seizures that were at least 15 minutes long...so we don't want to go back to that. But we've started to wonder if maybe he just outgrew the status. So about 2 months ago, we began to wean Clobazam. In some ways, his seizures have gotten worse. His cycles seem to be moving closer together. But, his good days are really good! He is more alert...he is happier...he is speaking more clearly. So we are holding firm to our weaning schedule in the hopes that he will balance out. We have emergency meds to give him if his cycles get really bad - although we've found that they tend to prolong the cycle. (it's as if he needs to get the seizures out).
He is now completely off of Clobazam...has been since Tuesday. We are considering weaning him off of Stiripentol as well - but that will come with time. We are very interested in the possibility of treating him with Medical Marijuana - but are still not sure how we would get it. There is exciting research that suggests that this may be very beneficial for Epileptics.
We have a group of researchers working on treatments for Kael. They have created a cell line (taken from a skin biopsy). They are testing different drugs on his fibroblasts. We have a list of 7 drugs that created an upregulation of his SCN1A production. He has a mutation on his SCN1A gene - so he has one good SCN1A gene and one bad SCN1A gene - these drugs increase the production from the good gene. None of these drugs are epilepsy drugs. We currently have the medicine in hand, but are waiting to see how Kael does off of Clobazam. Trying this new drug will be our next step, if need be.
Since writing the above a few days ago - I want to add another update. Kael's time between seizure cycles has increased. His seizure activity during the cycles has decreased - so we are very hopeful that removing Clobazam was the right decision.