The past few days have been quite eventful. First, I had not mentioned this yet in any of my recent updates, but the Southern California Epilepsy Foundation is having a seminar in early April geared towards parents of children with rare Infant Epilepsy Syndromes. Dr. Charlotte Dravet from France is one of the many doctors coming from all over the world to speak at this seminar about rare forms of Infant Epilepsy. Dr. Dravet not only discovered Severe Myoclonic Epilepsy (Dravet Syndrome, which Jenelle does not have) but she worked closely with Dr. Lennox, the doctor who discovered Lennox Gastaut Syndrome. The last time Dr. Dravet came to Southern California, the Epilepsy Foundation made arrangements for families to meet with her privately and individually. I received confirmation on Sunday that we will have the same opportunity when Dr. Dravet comes this time. We are very excited about the upcoming seminar and excited for the opportunity to meet with Dr. Dravet. We are so fortunate to have such a wonderful , supportive and pro-active Epilepsy Foundation in our area.
Also, as you know our trip to UCLA was yesterday. The good news is that Dr. Shields agrees that our next step is the Ketogenic Diet. Before we begin, Jenelle needs to have a lot of metabolic and organic acid tests. Yes, more poking for blood and bagging for urine, all of which I plan to get done on today. They need to make sure she can be stable on the diet. In addition to these standard tests, we are running a blood test for mitochondrial disease. Dr. Shields still feels that Jenelle most likely does not have mito disease, but rather than put her through the pain of a muscle biopsy, he feels we can test the mitochondria found in her blood to rule it out. A blood test is not as accurate as a muscle biopsy, but if it comes back positive, it may point us in the direction for further testing. As I’ve mentioned before, most forms of mito disease are degenerative and have no cure.
Once the test results come back, which can take 3 to 6 weeks, we will then be able to enter the hospital to start the diet as soon as a bed becomes available (again, this is the RSV time and beds for voluntary admissions are scarce.) When we enter the hospital, we will be there anywhere from 3 to 6 days, depending on how long it takes us to learn the diet and for Jenelle to become stable on the diet. After our exam with Dr. Shields, we met the nurse in charge of the diet and she gave us more information about what to expect. The diet can work to stop her seizures in as little as a few days or a few weeks. They expected to commit 3 months to the diet to see if it works.
I’m sure there is more I could say about the diet, but I’d rather wait until we know more about how it will work specifically for Jenelle. It is more strict than Atkins and the South Beach Diet, and far less nutritional. All food must be weighed before being given to Jenelle. Each child is different, and sometimes the diet works differently for each child. In the meantime while we get Jenelle’s tests started, we are increasing her Felbatol to see if that helps control her seizures. We are still seeing great results from Felbatol, but she is still not seizure free, which is the ultimate goal. There are more drugs we could try, but Dr. Shields thinks the diet is the best next step since we have some stability on Felbatol. As a professional courtesy, we informed Dr. Shields that we were planning to meet with Dr. Dravet. Dr. Shields said that he had no problem with us doing that and that, “Charlotte is an excellent doctor and it will be great to get her thoughts on Jenelle.” I also mentioned that we were waiting to hear from Dr. Haas about his review of her medical records, and Dr. Shields thought that was great as well.
It looks like the coming months will be exciting and busy for us. We hope and pray the diet and the expert opinions will help point Jenelle into a direction that will improve her development and help her reach her full potential.
By the way, please keep the prayers coming for Jenelle’s friend Lily in Arizona. The last update I received on Lily was that she was doing well (no seizures since her fever broke!) but was still having some complications like UTI infection and a cold. Again, here is her website in case you would like to check for updates directly. There is an adorable photo of Lily post-surgery - who knew a child could be so beautiful after something so major! I know they appreciate the many prayers.
Thank you for keeping us in your thoughts and prayers as well - I’ll keep you posted.