January 21, 2009

Julianne Moore: Spokesperson for the TS Alliance

Julianne Moore has been the official spokesperson for the TS Alliance for several years and appeared on Access Hollywood a couple weeks ago. Here is the URL to the video...


She has been an amazing supporter of the TS Alliance.

January 09, 2009

Vigabatrin Recommended for FDA Approval!

This is really great news and a long time coming!!!

This week an expert committee unanimously recommended the FDA approve Vigabatrin for the treatment of Infantile Spasms and Complex Partial Seizures. This is a huge step forward, especially for children experiencing Infantile Spasms which can be a devastating seizure type that can significantly impede neurological development.

Children who have TSC have a higher chance of having Infantile Spasms, a rare and catastrophic form of epilepsy that almost always starts before one year of age. The spasms typically last for one to five seconds and occur in clusters of up to 100 at a time and can cause severe developmental delay. Currently, there are no FDA-approved therapies and Vigabatrin has been proven effective in controlling infantile spasms in many cases, especially when the underlying cause is TSC. Early diagnosis and treatment is essential and can improve neurologic function.

Vigabatrin will now move toward full FDA approval, which may take four to eight months, but well worth the wait. Right now anyone prescribed Vigabatrin in the U.S. is getting the medication through Canada or Mexico and insurance doesn't cover it. I am so happy to think about the families who need this drug actually being able to get it without jumping through hoops and waiting days for it to arrive through customs.

January 06, 2009

A new year...a new seizure

It pretty much sucks to be writing this and yesterday was a rough day for our family to say the least. Evan had a seizure and we ended up spending 13 hours at Children's Hospital in DC yesterday. Fortunately my parents were still in town and we didn't have to make plans at 5:30 am about how to get Aria to and from school!

Evan crawled into our bed at about 3:00 am and then had a seizure at 5:30 am. At first we thought he was going to throw up because he kept crunching his body in while lying on his side and making a funny noise in the back of his throat. Then we realized he was doing this consistently every 3 seconds and he was having a seizure. After a couple minutes we began fumbling through the closet for Diastat (rescue drug to stop a seizure) and it was expired. SHIT! We've never seen him have a seizure like this or one that lasted so long and we were starting to get worried that it wasn't stopping. Evan's eyes were open but he wasn't able to talk to us. We were starting to set up the expired Diastat, hoping it would have some effect and were thinking about calling 911. Maybe just the threat of a rectally administered drug worked because Evan’s seizure began to subside. Whew! It lasted almost 3 minutes and Evan sat up and fell instantly asleep in my arms. We called the phone service at NYU Hospital and left a message for the on-call neurologist to call us back. Evan slept until the phone rang a half hour later and I asked him to squeeze both my hands. He did fine with the left but his right hand barely moved. I asked him to squeeze really hard and he said he couldn’t. Prior to surgery he used to have weakness on his left side after a seizure but never on his right side and never this long afterward.

The on-call neurologist suggested we go to the ER to get his head scanned. Under different circumstances we may not have gone to the hospital since the seizure had stopped on its own, but last week Evan fell off a slide platform on the playground and hit his head pretty hard. The doctor recommended we get him checked out thoroughly since he hadn’t had a seizure in so long and it manifested so differently and the weakness in his hand lasted so long.

At the hospital they did a bunch of blood tests and put us in an observation room in the ER until they had an available MRI slot. There was a lot of waiting around and Evan was in good spirits. He charmed all the nurses and when we finally left the hospital we had an armload of toys and stuffed animals they had given him. The MRI results came back with no changes since the one he had last March and we were relieved. One of the blood tests was to check his medication level and that won’t be back for a couple days but we increased his meds a bit and hopefully we won’t see any more seizures. What an ordeal! Everyone at Children’s Hospital was wonderful to Evan and they worked with his neurologist at NYU each step of the way. As we were leaving one of the nurses even gave him a popsicle for the road – his fifth popsicle at the hospital, but who’s counting?

Yesterday was a bad day but today we are happy to say Evan is one day seizure-free. I hope the trend continues for a long long time.