Rare Disease Spotlight: Tuberous Sclerosis Complex (TSC)
Tuberous sclerosis complex (TSC). Unless you are one of the 50,000 Americans affected by TSC, or one of their loved ones, chances are you’ve never heard of this rare disease that often causes seizures. Yet TSC is considered a linchpin disease.
What does this mean? Linchpin diseases are closely associated with other disorders. In the case of TSC, these include cancer, autism and especially epilepsy. In fact, 85 percent of people with TSC experience seizures. Better understanding of TSC could lead to quantum leaps forward in our understanding all of these disorders, including epilepsy.
So what is TSC, exactly? TSC Is a genetic disorder that causes non-malignant tumors to grow in the brain and other vital organs, especially the kidneys. Some people with TSC show few symptoms and are able to live full, independent lives. Others have more severe symptoms that become evident early in life, including seizures and intellectual disabilities.
It’s estimated that about one million people worldwide have TSC, and although it is a rare disease, it’s more common than ALS or Cystic Fibrosis. Not so long ago, the prognosis for TSC was bleak – only the most severely affected individuals ever received a diagnosis, and little research was being done.
That’s where the Tuberous Sclerosis Alliance (TS Alliance) comes into the story. In 1974, four mothers of children with TSC founded the TS Alliance to support affected families and to advocate for increased research. Their efforts have helped lead to the discovery of its genetic pathway, as well as to improved diagnosis and treatment.
Today, most patients with TSC have a normal life expectancy; however, they remain in desperate need of a cure. You can help them – and other people with epilepsy – by joining the TS Alliance’s efforts to support research into TSC and the seizures it causes.
Learn how we can work together to unlock cures at the TS Alliance. And remember: Like you, we’ll give everything but up in our search for a cure.
NOTE: If you or someone you love is affected by TSC, please join the TS Alliance community at www.tsalliance.org. The TS Alliance and its army of volunteers are there for you should you need information, support or just a sympathetic ear.
October 26, 2016 | Categories: General