Most kids that have seizures are on a myriad of medications that slow the brain waves down. This calming effect on the brain lessens seizure activity, but also lessens just plain ole activity in general. Parents complain that their kids are like 'zombies'. Phenobarbital is one of these drugs, a barbiturate. It is a staple of the epilepsy community and has been for a million years. This was the first drug that we were put on when we were diagnosed. We later found out that phenobarbital has been found to lower IQ and has a less than 6% success rate in epilepsy patients with TS. Reason #8,000,000 to find a TS Clinic or 'your' clinic if you or your child has a rare disease. People just don't know what they are doing. I remember when they were telling us the diagnosis at Kosair Children's Hospital in Louisville, they were literally on their phones reading off the Tuberous Sclerosis website when they were explaining things to us. WHY you wouldn't refer us two hours down the road to the people who are leading the world in research, is beyond me... But I digress.
So we get to CCH and they are appalled at the meds we are on. "These don't work". They told us... Uh, yeah, we were picking up on that. At this point Luke was having 30 seizures a day. (I'm skipping a HUGE part of the story, brain surgery, but I'm hoping that I will come back around to it). They got us off all the heavy hitters- Keppra, Topamx, Phenobarb, Trileptal... And we got on some basics.
Sabril- I have already talked about Sabril a little in a past blog. Sabril is to combat Infantile spasms. For all intents and purposes, Luke should have defiantly had infantile spasms. He has a bad/ strong/ active case of TS. Ok, quick tangent... TS is a spectrum disease. There are people who are walking around with it that don't even know they have it and then there are kids like Luke who seize their ass off. Back to Sabril. So Luke has taken a butt load of Sabril his whole life and never had infantile spasms. We are very grateful for that. The window of developing infantile spasms closes around the two year mark, so its safe to say we are out of the woods. The reason we have stayed on it longer is because we make so many other med changes all the time and we try to only change one thing at a time. Also, studies have shown that some kids have regular seizure control from Sabril. So, Sabril did its job, but now it has turned on us and is working against Luke. He is jittery, wobbly, distant and foggy. Dr. Franz walked in the room and could see by looking at him that he needed to come down/ off the Sabril. We were on 1000 mg in morning, 750 in afternoon and 500 at night so a total of 2,250mg a day and he cut it to 500/500/500 a total of 1500mg a day. We were in the hospital anyway so we could be monitored for increased or more dangerous seizures. So far, we have not seen a spike. Granted we have a few other things going on, but considering the amount we went back we feel pretty good. And so does he. I couldn't tell if I was just wanting for him to be better off the Sabril or if it was real. After two days of the lower does he seemed more aware, present, and connected. He looks at you again... like into your freaking soul. Its magic. I thought, ok, I am just grasping for straws here and just looking for something to be excited about. I am for sure making this up. But when I got home mom and dad were amazed. Mom said he noticed her (mine that she stole) necklace for the first time in over a year and gently touched it and looked at her. She said, "Oh... that's pretty. Did you see my (also mine that she stole) earrings??" and he reached up and touched her stinking ear. WHUUTTT?! This is huge. So the plan is to touch base with Dr. Franz Monday and if he is still doing well we are cutting to 250/250/250 for a week and then off totally. Very scary and exciting.
Afinitor. Dang. Ok, so Afinitor is seen as the miracle drug for TS patience. In the 1970s soil from Easter Island was found to have a anti-fungal bacteria which was later made into Afinitor. It was originally formulated (is that the correct verb?) for breast cancer and transplants. It is also FDA approved for a type of growth TS patience get called SEGAS (Subependymal Giant Cell Astrocytoma) and kidney tumor associated with TS called Renal Angiomyolipoma. There are studies in the works to get Afinitor approved for seizures and tuber reduction, but it is not done yet. However, we are taking Afinitor. Afinitor has been proven to reduce the size of tubers and even slow development of new growth. It also gave us excellent seizure control. Afinitor changes the way the brain metabolizes so it takes a while for the benefits to pay off. We were put on Afinitor in September of 2013. We saw some slight reduction in seizures, but it wasn't like this beautiful gradual process that we knew we were heading in the right direction. We would think we were getting there then he would have a day with 5. Then we'd put together 36 hours. Then he'd have 4. It was like this until Decemeber 2013 a few days after Christmas, they were gone. They told us it would take a few months and by golly a few months later they were gone. We never fully relaxed, always on the lookout, but we decided we didn't want to live in fear so we got pregnant again in June. June is when Luke's seizures returned. It was gradual just like they ended. We have been pushing the Afinitor to the limits since then. This is the unicorn we were chasing. This beautiful half a year feels like something we made up. We had to push Luke's Afinitor up so high that his immune system was very weak. Afinitor is an autoimmune suppressant. We didn't go anywhere because Luke got sick so easily. No playgroups, no zoo trips with the friends, none of that stuff moms post on Facebook. I am much more aware of the fallacy of social media now, but it was tough then. I didn't think I was mad or resentful, but, come on, you know I was. So, because Luke was sick twice a month, a year ago, we started IVIG infusions (Intravenous Immunoglobulin) which is immunoglobulin from the plasma in blood donors. This helps strengthen his immune system and is supposed to also help with seizure control. While we haven't seen control with seizures we have been a LOT less sick. We go up to Cincinnati once a month to get the infusion. It starts with a steroid, Tylenol, and benadryl, then he gets the infusion, and ends with the steroid. The whole process takes about 14 hours. This is the reason we had a port put in a few months ago. Every time they would come to stick him for the infusion, they would blow his veins. Most nurses couldn't get it and we would have to wait on the VAT team to come up and sometimes they couldn't get it... it was a process. The only other side effect from Afinitor is mouth sores. We haven't had too many issues with then however, looking back we have had Hand, Foot, and Mouth Disease a few times without the Hand and Foot. So anytime Luke has a mouth sore or runs a fever we have to hold the Afinitor until he heals. This is what has taken us so long to get back to those magic months. We push him up a dose and he gets sick so we hold it and then he gets better so we work back up to where we were and try to get his level higher and then he gets a mouth sore and the process continues. We have wanted recently to get his level up to 18-20 thinking this is a good level for seizure control. When we got his level taken right before he got sick it was 28. He had A LOT of Afinitor in his system. Its no surprise he got such bad sores. When we went in to the hospital they took a CBC (complete blood count) and his neutrophils (white blood cell which are supposed to be between 6-17) were 4. Before we left the hospital they were 5.2. So we are a week and a half off of Afinitor. We are all holding our breath just waiting to see what is going to happen. So far, he had 4 seizures today. I got his Afinitor level back last night and Luke's Afinitor level was 1.1. Ok, this font is cute, but that number is hard to read. That is one point one. He has no Afinitor left in his body. He has little Sabril. What is this week going to be like? We are holding our breath.
Mother of two amazing little boys, one who just happens to be a TS warrior.