Tag Archives: infantile spasms

20 20 24 hours to go…I wanna be sedated!

February 9, 2013 Rebecca Gaunt 5 Comments

One 45 minute test equals 4.5 hours in the hospital.

Ah, the electroretinography (ERG). a routine test you are supposed to have done every three months while taking Sabril (vigabatrin). You are also required to have an eye exam every three months because this particular drug carries a risk of loss of peripheral vision. Sabril has only been approved by the FDA for a few years. Before that you had to order it from Canada. But then it received approval here, the cost skyrocketed, it became heavily regulated, and it’s only available through specialty mail-order pharmacies. Many people resent being treated as if we’re too stupid to understand and take on the risks.

Given the risks, should we keep a close eye on the vision of our children? Certainly. But the intrusive nature of the ERG makes many families angry. It’s no simple test. We took Connor in for his second one yesterday (mmm hmmm, we’re behind schedule). We had to be at the hospital by 9 and get admitted through day surgery for a test that won’t start until 11. Yup, I told you it’s not a simple test. Then there is lots of information gathering, weighing, measuring, and finding a vein for the IV. Connor likes to make things difficult by hiding his veins. He always requires the IV team, rather than a regular nurse. Then we take him down to the room where they will place contacts in his eyes that test his reactions to stimuli. But he won’t be awake. He must be sedated with propofol (yup, Michael Jackson propofol). Once it’s over, we must wait for him to wake up and drink before they will pull out the IV and we are allowed to leave.

These tests and the frequency with which we are expected to undergo them frustrate a lot of people. We know there are risks to the peripheral vision. But we didn’t put our kids on this drug just for the heck of it. If someone is taking it, it’s for pretty dire reasons. The primary reasons I know of for its use are infantile spasms (why Connor is taking it) and frequent compex partial seizures that have not responded to other medications. Most people (based on my interactions on message boards) wouldn’t take their kids off this drug, even if they were told vision was being affected. Infantile spasms, left untreated, can cause major brain damage. What good is fantastic vision if your brain is fried? And the people taking it for other seizures have likely tried every cocktail in the book and are having so many seizures that their lives are being adversely affected to the extreme. So is being sedated every three months a bit much? You decide.

I’m not really freaked out by Connor being sedated, I guess because I’ve seen so much in his 10 months. I also know he’s being closely monitored. It’s not like Michael Jackson, who was abusing it with the help of a shady doctor. I just think the overregulation is an American agency assuming we are idiots. Should we keep an eye on vision? Yes. Every three months? Some people are on this drug for years. What hell. Especially if you are getting it through Accredo Pharmacy, specialty pharmacy of Medco. If so, you are probably already going through the monthly hell of securing your refill from this incompetent place.

We recently increased Connor’s dose of vigabatrin again in hopes of putting a dent in these eye rolling seizures. We are seeing some improvement. We actually had a day recently where we didn’t see any, which hadn’t happened in a while. We are also having more days in which we only see 1-2 clusters of eye rolling. But other days we see up to 4 or 5. Then again, for a while we were frequently seeing 4-6, so it’s definitely an improvement. His other seizure med is keppra. His neurologist is considering adding Onfi, and if it seems to help, we will wean him off the keppra.

Any TSC families reading this, I will be going to DC at the end of the month with volunteers from all over the country to meet with members of Congress regarding TSC research funding. I’m in need of personal stories and letters to your congress people. If you can help, e-mail me at pin.the.map@gmail.com. I can give you more details.

Thanks to everyone who has been voting for me to the right by clicking on the Top Mommy Blogs button.

Tuberous Sclerosis

Meeting with the Tuberous Sclerosis Alliance

October 26, 2012 Rebecca Gaunt 3 Comments

Last night I attended a meeting led by Kari Luther Rosbeck, President and CEO of the TS Alliance, and Dr. Steve Roberds, Chief Scientific Officer. The Alliance is located in the D.C. area, so being able to hear directly from them about the accomplishments and goals of the organization was comforting for someone who is still pretty new to the TSC world. The difference a few years makes is incredible. So much more is known about this disease now than just a couple decades ago. It’s incredible to think that the two genes that have so far been found to cause it, as well as their function, were only identified in the 90s which lead to a genetic test to confirm the disease (research is being done to see if another gene is involved). This in turn has led to clinical trials of the mTOR inhibitors now used to treat the tumors.

Some recent studies have shown, with animal models, that these inhibitors can prevent the onset of seizures and cognitive deficits in the young, as well as treat seizures and reverse cognitive deficits in adults. I just remind myself how much change has taken place recently, and how much more is being done, when I start freaking about about the fact that we have no idea what kind of course Connor’s TSC will take. And thank you to the couple that spoke last night about how their son is a sophomore in college. It helps keep my anxiety in check.

Given the genetic nature of the disease, and the fact that the majority of the cases are spontaneous mutations, rather than passed down by family, experts feel a “cure” will be a significant challenge. However, a lot can be done in the areas of early identification and treatment. For example, if an infant is born with a diagnosis of TSC, EEGs could be done before seizures ever start, and should anything appear abnormal, begin treatment before they experience one. Currently, infantile spasms are treated when they start, but if ways are found of identifying children that are more likely to experience these, they can be treated before they ever start. Since TSC can lead to autism and cognitive problems, if the course of how those develop can be studied it can lead to preventative measures as well. Basically, the focus is on changing the progression and manifestation of the disease.

Improvements in technology are improving the chances of early identification. Many children weren’t diagnosed until seizures started and they would have to endure them for extended periods while doctors tried to figure out what was going on (a common feature of TSC is seizures that are hard to control. Connor spent 5 whole weeks in NICU as they tried to get them to a manageable level, and we actually knew the cause). Now ultrasounds can be a tool to identify babies at risk because of the rhabdomyomas that can form in the heart. As I mentioned in an earlier post, Connor was found to have one at my 30-week ultrasound, although tuberous sclerosis was mentioned in such a vague way, that we were more focused on the possibilty of a heart defect. I’ve since read about what a strong marker of TSC those rhabdomyomas actually are. One study I found said that of 19 babies found to have one on the ultrasound, 15 of them went on to be diagnosed with TSC. Perhaps the doctors should have pushed that possibility a little more. In our case, since the seizures started the day he was born, those two markers immediately led to diagnosis. But I wonder, had his seizures started months later, or had we not seen it, how long it would have taken to figure things out.

One of the biggest points I try to make to people is this. TSC research involves finding out what leads to tumor growth, autism, epilepsy and many other issues that also occur in the general population. It doesn’t just benefit those with TSC, but a far greater number of people. Maybe you don’t know anyone with TSC, or Connor is the only one. But you probably know someone with autism, epilepsy, learning disabilites or cancer. Tuberous sclerosis complex may not be as high profile as a lot of other causes, but it should be.

Parenting, Tuberous Sclerosis

Is this glue on my head again?

October 17, 2012 Rebecca Gaunt 1 Comment

At his EEG today

There’s good news and bad news. The bad news is that after another hour long EEG, we still aren’t really sure what the deal is with these eye rolling incidents he’s having once or twice a day. And unlike the last time, when we spent 8 hours in an office with electrodes on his head only to have an episode on the way home, this time he had an episode in the waiting room right before it. At least the EEG showed once again that the hipsarythmia brain pattern that previously presented with his spasms has cleared up thanks to Sabril. The doctor doesn’t seem certain whether these are spasms or not, although he can’t say they aren’t some sort of seizure activity. He was very pleased with how well Connor is doing though because he isn’t presenting like a child having infantile spasms. At any rate, we are weaning him off one of his meds, phenabarbitol, so that we can see if clonazepam is more effective at knocking out whatever these eye rolls are. There was still no seizure activity otherwise (thanks again to our surgeon), which leads me to the other good news: during the EEG today they tried to see if a strobe light would trigger anything. It had no effect on him whatsoever, so Connor’s going clubbing this weekend.

But at least we got to do something fun today, too! Well, I’m not sure he would agree with that.

Parenting, Tuberous Sclerosis

Infantile spasms–my unanswered prayer

October 15, 2012 Rebecca Gaunt 4 Comments

You never know when or if something might spring up with TSC. We came so close after surgery to having some normalcy, but it wasn’t to be just yet. About a month after surgery, on Wednesday August 22, Connor had a follow up EEG. We hadn’t seen any seizures since surgery, and now we would see how he was doing as far as the subclinical seizures that can’t be seen to the naked eye. The neurologist would read the EEG and call us with the results within a week. But on Friday morning, August 24, the moment that had lost me countless hours of sleep and stress happened. We saw his first infantile spasms. I don’t even know how much desperate begging and praying I had done that he wouldn’t develop this complication. Infantile spasms are extremely rare in the general population, but kids with TSC are at a higher risk of developing them. I had watched countless YouTube videos other parents had loaded to help others with identification, so that I would be sure if the moment came. But why so much more concern over this seizure type than what he had before? IS can cause brain damage, prevent children from reaching milestones, and even cause regression. Some people had reported their babies had regressed to a newborn state after developing these, losing any milestones they had achieved.

I had obsessed and obsessed over how things would go when these started. How long would it take to get treatment rolling? How many would he have before treatment started to work? What damage would be done between the moment we first saw them and the moment treatment became effective? One thing I didn’t worry about was whether the drug I knew he would get if this happened, Sabril (vigabatrin). would work. I’d heard amazing things about its effectiveness. I’d even obsessed over whether they would start on a Friday after the neurologist’s office closed further complicating getting treatment started. If these had come out of nowhere, meaning we knew nothing of his TSC, these would warrant going to the ER to get treatment started. But since we already had a plan in place and a neurology team, we were told just to call the office and we’d get the ball rolling. So naturally, they started on a Friday. And the office closes early on Fridays. Did I mention I had a full blown anxiety attack on top of everything else? Because people were right. They said you’d know the spasms when you saw them. And I did.

Click to see spasms before starting Sabril:

http://youtu.be/VPpuAvNJQ30

It actually worked out well that the office was closed. Instead of going through medical assistants, I was able to directly page the doctor on call. I described what I saw and I could tell my description concerned him. They hadn’t yet reviewed his EEG, so he said he would look at that and call us back shortly. Confirmed. His EEG showed hipsarrhythmia, the scrambled pattern of brainwaves that often (but not always) accompany IS. They called in a prescription for Klonipin (clonazepam) for the weekend to help calm them, and we had the first appointment Monday morning to get him on Sabril. On the bright side, the surgery had been a success. No complex partial seizure activity. We should have been able to celebrate, but I try not to be bitter. Try.

It was a long weekend in which we saw 3-4 clusters a day (his worst day having 8). A cluster is a series of spasms. Monday morning we signed our life away on paperwork due to the fact that a possible side effect of Sabril is damage to or loss of peripheral vision. But as Wendi (the fellow TSC mom who has been there to help us and answer our questions through all this) said, “What good is 20/20 vision if their brain is mush?” I haven’t come across any stories yet about children experiencing this so hopefully he won’t either. Because of the risk, he has to undergo eye exams every three months as a precaution, including an ERG (electroretinography) at Scottish Rite. He has to be sedated and electrodes are used to check his vision. Can nothing be simple? You can’t even get Sabril at a regular pharmacy. It has to be Fedexed to your house.

After about a week and a half we seemed to be in the clear. We went three days with no spasms. Then the eye rolling started. It is now mid October and we are still trying to get a handle on the eye rolling. Presumably, they are milder spasms that are breaking through on the Sabril, but he’s doing well and continues to progress. While the full spasms were going on, he was quieter and it was harder to get a laugh, but he’s back to his giggly self. He underwent an 8-hour EEG to try and determine what was going on. Naturally, he didn’t have a single incident for the entirety of the test. Nope, not until we were in the car on the way home. I was so frustrated I might have driven my car into a tree had Connor not been in the car. But the EEG came back otherwise greatly improved, the hipsarrythmia having cleared up. So this Wednesday it’s back to the neurologist for an hour EEG (yeah right, like we’ll get lucky enough for something to happen in that small window) and an appointment to discuss his progress. I’ve been a little bit crushed that Sabril wasn’t the 100 percent miracle cure it has been for many others. I truly thought it would knock them out completely within a few days, so that we’re still seeing anything has been a bit crushing. That being said, it has immensely improved the situation and allowed him to continue on his developmental path.

What we’re currently seeing:

http://www.youtube.com/watch?v=qttWpEA3UYg&feature=youtu.be

Mixed Up Mommy