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Epileptologist Visit - February 29, 2016

Monday was Rare Disease Day. We celebrated Rare Disease Day with our first visit to a pediatric epileptologist (epilepsy specialist) at the University of Iowa, Dr. Ciliberto.


Jeff and I liked the doctor and his team. He spent a lot of time with us and although he didn't have a magic solution, we were glad that we at least have a plan. Ethan is currently taking Keppra, Phenobarbital, and Topamax for his seizures and we have rectal Diazepam that we use as a rescue medication when needed. February was a difficult month and we have needed to use the Diazepam on multiple occasions. Due to a cancellation, Ethan was able to have his sleep study last week, which confirmed that he has mild sleep apnea, which could be contributing to the increase of seizures, especially while he is sleeping. While we don't enjoy the risks associated with surgery, we are working towards being able to schedule the removal of Ethan's tonsils and adenoids. The hope is that their removal may decrease the level of sleep apnea. Unfortunately, we will not be able to get in to see the ENT/surgeon until the end of April. Dr. Ciliberto is not a sleep specialist, but he agrees that addressing the sleep apnea may be beneficial, although he has warned us that that alone may not control the seizures. So, we are realistic, but also hopeful that we will see some improvement after the surgery. I asked for us to be put on the cancellation list, so hopefully we can get in to see the ENT, sooner than later, and get the surgery scheduled.


In the meantime, Dr. Ciliberto is going to tweak Ethan's medications. Over the next couple of weeks we are going to increase Ethan's dose of Topamax to see if that will help control the seizures. If it doesn't help, then we will take him off of that particular medication and try something else in addition to the Keppra and Phenobarbital. The medications that we discussed as possibilities of what to try next were: Ezogabine, Perampanel, Lamictal, and Rufinamide. The implantation of a Vagus Nerve Stimulation (VNS) device was also discussed as a possibility if the seizures remained uncontrollable after trying additional medication combinations and the removal of Ethan's tonsils and adenoids. We also discussed at length how often we have had to use the rectal Diazepam, its effectiveness, and risks associated with frequent use. For at home, at least, we are adjusting our plan for using the Diazepam to break the seizures. If Ethan is having a cluster of seizures, where each seizure is less than 30 seconds, with a short break and then another separate seizure starts, we are now going to wait longer to use the Diazepam as long as he doesn't seem to be in distress. If there is one constant seizure that lasts for 5 minutes, then we will give the Diazepam to break it, however, if it is a cluster we are to watch him closely for up to 20 minutes before administering the rescue medication as long as we do not feel like he is having problems breathing, etc. Dr. Ciliberto has recommended this because it is his experience that some individuals with cluster seizures have a normal length of cluster --- 5 minutes, 10, 15, even 30 minutes, and their body stops on its own. Currently, we had been using the Diazepam at 5 minutes and then it would take about 5 to 7 minutes for the seizures to stop after the medication was administered, and then Ethan would fall asleep for an hour or more and is completely drained even upon waking.

Today, was the first day that I had to follow this new protocol. Ethan has had a cough and some boogies so he did not go to school yesterday or today and has been pretty tired for the last two days. Today he woke up from a late morning nap seizing. So, I timed it and took care of him --- holding him, laying next to him, stroking his back and his head, talking to him, praying, etc. for almost 15 minutes until the cluster of seizures stopped on their own. It was hard to wait that long without intervening, but I did. After the cluster stopped it took a little while but Ethan seemed to recovery pretty well and was back to playing within an hour. He's not his 100% right now due to whatever cold/cough/bug he is fighting, but overall he was doing much better, energy level speaking, than if I would have administered the Diazepam.


Prayer Requests
  • Decrease of seizures -- finding the right medication combination, addressing the sleep apnea, etc.
  • Surgical removal of tonsils and adenoids, if/when scheduled -- wisdom for the doctors and a safe surgery and quick recovery for Ethan, and that is would eliminate the sleep apnea.
  • Strength, wisdom, peace for Jeff and I as we are going to try to wait longer to administer the rescue medication, when it is safe to do so.
  • Discovery/development of effective treatment options and ultimately a cure for PBD-ZSD. A miracle.
  • The Global Foundation for Peroxisomal Disorders
  • All of the amazing professionals who are part of Ethan's team -- doctors, therapists, teachers, his "buddies" at church who care for him so that we can attend Sunday School and the Worship service, etc.
  • Jeff - would continue to do well at work and that he would be able to have peace about being at work and doing his job in the midst of Ethan's increased health challenges. That he would be able to get the sleep/rest he needs each night so that he would be refreshed and not so tired all the time.
  • Pamela - be able to do a better job keeping up with the house, since I quickly dismiss this when Ethan isn't feeling well and he is home sick and not at school. Make wiser and healthier food choices and be motivated to exercise on a regular basis once again. Over the last year I have become increasingly unhealthy and have lost nearly all the progress that I had worked so hard at for over two years (2013-2014).
  • Jeff & Pamela - our personal relationships with Christ, each other, Ethan, our families, fellow believers, and friends. All of the uncertainties surrounding Ethan's health and life are extremely stressful and impact every aspect of our lives.
  • Salvation of friends and family who do not know the Lord.







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