Update, Dr. Neuro

We talked with Dr. Neuro about Kaylee's seizures, he gave us a few
different treatment options.

1. Increase her Topamax to the max dose slowly and see if it curbs the seizures and spasms.

2. See the dietician to begin the Ketogenic Diet.

3. Vigabatrin

Dr. Neuro said he doesn't need to do a repeat vEEG to confirm. He said if it looks like spasms, it's spasms. He said he didn't want to waste time testing, he wanted to move straight to treatment. Given that her other seizures had kicked up in frequency as well, he felt that we
needed to move quickly. He said he was confident that I knew what to look for.  Also, it doesn't really change the course of treatment, since we are not going to use ACTH again.  She didn't do well on ACTH and it didn't work well on her either.

It wasn't the answer I was hoping for at all. I wanted him to stand up and say, no, you are probably wrong, there is nothing to worry about. Our Dr. Neuro puts a lot of stock in a mother's intuition. He thinks that more doctor's need to listen to that instinct.

We have not made any firm decisions on treatment yet, but we are leaning toward diet and Topamax. For the time being, the increased dose of Topamax has kept the seizures at bay. She has been very wakeful at night, so we are not yet certain if that is from seizures or from increased meds. The doctor said we need more time to see which one it is.

It's very disappointing.  We really thought we had the IS beat.  We were pretty knew we may never be free of the Complex Partial's, since she had occasional seizures with TSC.  I guess we just feel blessed that we were free of the IS since the end of April 08.  One year ago almost to the day is when the IS began and we have come a long way since that bumpy road.  October is our favorite month, but these last couple haven't been so great.  We are hoping we won't be celebrating another one of Mark's birthdays at Children's Hospital.  As nice is the hospital is, it's not a good place to party :)  Kaylee has plans to dress as the "littlest angel" for Halloween, so we are hoping to be able to do the typical dressing up and trick or treating this year.  It will be her first, since she was on ACTH and in misery last year.  She had swelled up so much, we couldn't zip up her costume.

Calling on all prayers to see us through this rough time.  Hoping for a speedy cessation of the spasms and are next course of treatment will work with minimal side effects.

Return of the Spasms?

Well, we have had a few more of the complex partial seizures than normal. She may have 3-4 a month, but this week, she's had seven in the last four days. I spoke with Dr. Neuro today and he decided to up her dosage of Topamax. He said that if we didn't see a reduction in her seizures by Monday, that he wanted to move up her vEEG and possibly change her meds. We discussed putting her back on Keppra, since we had great luck with it before the onset of the IS. We were so confident that the spasms were not going to return, but two hours later, I took some video of Kaylee.

I just stared at her, completely frozen when it first began, even though the camera was right in front of me. I was in such shock and disbelief, that I guess it just didn't process right away. She was making these movements for a good two minutes before I started filming and they occurred every two to ten seconds. The whole top half of her body would stiffen up. Please comment and tell me what you think. I will be calling the doctor tomorrow.




I'm trying not to get too upset about it yet, because I have only caught it once. She's definitely been making some weird movements lately, but we have been so busy this week, I haven't had a chance to just stare at her to see a pattern. My gut tells me that this isn't good, but I want to see a pattern before I start to worry. We know that even if it is, ACTH is not an option for us. It didn't agree with her the first time, so we will definitely be headed toward Vig. I actually already have the referral letter to a doctor in Mexico just in case the Topamax didn't curb the spasms when the ACTH didn't work the first time around. We'll see what happens tomorrow. Please pray that I am wrong...

FDA ACCEPTS REVIEW FOR VIGABATRIN'S USE FOR INFANTILE SPASMS AND COMPLEX PARTIAL SEIZURES

The Tuberous Sclerosis Alliance is pleased to announce that the U.S. Food and Drug Administration (FDA) has accepted two new drug applications from Ovation Pharmaceuticals, Inc. for Sabril® (vigabatrin) addressing two types of epilepsy, including infantile spasms. This is exciting news for the TSC community because this is the first step toward review and hopefully approval of vigabatrin for use in the U.S.A. Vigabatrin is currently marketed in more than 50 countries worldwide.

The Tuberous Sclerosis Alliance is advocating for an expedited review of the application, but we anticipate the process will take six to nine months. We will keep you informed as we find out more over the coming weeks.

Infantile spasms are a somewhat rare, but catastrophic, form of epilepsy, which almost always start before one year of age. They are one of many symptoms that arise from TSC and about 50 percent of children with tuberous sclerosis complex experience infantile spasms. Currently, there is only one off-label treatment for infantile spasms. Sabril (vigabatrin) would be the first FDA approved treatment. “Effective treatment options in the United States for infantile spasms are rare,” said Kari Luther Carlson, CEO of the TS Alliance, “and this is a positive step for our community.”

For complete information, read the news release from OVATION here.

Neuro Appointment

Kay had her neuro follow up yesterday.  Pretty good news all around.  We increased our dosage of Topamax a little to try to counteract the spasms she has been having lately.  We are hoping the new dose will eliminate any of the break through spasms she was having which is was only one cluster of 3-4 spasms like every few days for the last few weeks and one cluster of twenty a couple of days ago, which is a dramatic reduction from before the Topamax days.  We are going to give it about three weeks on the new dose before moving to the big guns, Vigabatrin.

The best news of all, is that he has "high hopes" for Kay's development.  He said he has every reason to believe that she will be developmentally normal, which is big news in our family.  We do still have a small gap to fill with her development because of the ACTH, but she gains new skills almost everyday.  Yesterday she even managed a four syllable AH-GOO-BA-GA.  I guess she told us!  She had a lot to say, but to anyone who knows, Kay, that is no surprise.  She is always putting her two sense in.  

We are going to delay her repeat EEG for at least a couple months to see where she is at and whether or not she is going to need Vigabatrin.  It's scary to think that she may be crawling by the time we have our next EEG!  Good luck trying to keep her down.

Tomorrow we go for our well check with the pedi doc, although we already know that Kay is down to a svelte 16.4 lbs, compared to her previous weight check with Dr. Neuro at a whoppin' 17.8 lbs just three months ago, just before she finished the ACTH.  She is still our little chunky cheeks though!