Meeting with the Tuberous Sclerosis Alliance

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.

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3 thoughts on “Meeting with the Tuberous Sclerosis Alliance”

  1. Did you ever in your wildest imagination think you’d ever be at a TS Alliance Meeting? Life is weird! I’m glad that you found some hope there. Never lose your hope!

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