Life with TSC, a rare disease, ‘revolves around struggles’

By Amy Coyne Bredeson CONTRIBUTOR

Stephany Hurst of Bluffton was diagnosed with a rare condition called tuberous sclerosis complex at age 5, after her mother took her to a dermatologist to ask about what appeared to be a rash on her face.

That appointment was the beginning of a long journey for Hurst, now grown, married and with a family of her own.

It turned out that the red bumps on her face were tumors called “angiofibromas,” one of the many symptoms of the genetic disorder that causes noncancerous tumors to grow throughout the body.

TSC tumors are most often seen in the brain, heart, eyes, skin, lungs and kidneys, according to the TSC Alliance, an internationally recognized nonprofit organization that works to improve the lives of people with TSC.

TSC is the leading genetic cause of autism and epilepsy.

At age 18, Hurst was told she also had sev- eral kidney tumors called angiomyolipomas, which are seen in more than 80% of TSC patients, per the TSC Alliance.

Aside from the kidney problems, Hurst has been mildly affected by TSC. Her youngest child, Ivy, however, has more significant manifestations of the disease. Now 8 years old, Ivy battles daily seizures, as well as intellectual disability and nonverbal autism.

“Our life revolves around the struggles that come with TSC – the numerous doctor appointments with TSC experts in Alabama and now at Le Bonheur Children’s Hospital’s TSC Center of Excellence, therapy and the management of many prescriptions.” Hurst said. “But the daily struggles that come with autism, intellectual disability and epilepsy are by far the hardest.”

The 42-year-old homeschooling mother of three daughters continues to thank God for all the blessings. She is grateful that Ivy is such a happy child when she’s at home with her family. She’s thankful that Ivy is thriving

TSC from page 19A in her schoolwork.

Hurst and her husband, Michael, are also thankful for the support and guidance of the TSC Alliance, which has connected them with some of the world’s best doctors and cutting-edge treatments.

“Knowing of TSC all my life, I felt I had a good understanding of its effects,” Stephany said. “But Ivy has had seizures since very early on, which I never had. So I pored over all the information on the TSC Alliance website to learn all I could. For me, knowledge and understanding give comfort. So thankful for all the great education provided by the Alliance.”

The Hursts are now considering enrolling Ivy into a drug trial for a new seizure medication.

“God has always directed our steps,” Stephany wrote in a message to The Bluffton Sun. “And I know He has only His best for her. God will always give her what she needs because He loves her like no one else! That gives me more peace than any research or new treatment option can!”

The Hursts just returned from a quick trip to Rock Hill, where they participated in an annual Step Forward to Cure TSC walk organized by the TSC Alliance of the Carolinas. They hope the money raised through the walk and other fundraisers will one day bring about a cure.

According to the TSC Alliance, the disease affects about 50,000 individuals in the U.S. and 1 million worldwide. One in 6,000 people are born with TSC. Though it is considered a rare disease, TSC is just as common as Lou Gehrig’s disease and cystic fibrosis. Still, many people have never heard of TSC.

In an effort to raise awareness of the oftentimes devastating diagnosis, the TSC Alliance of the Carolinas has received proclamations declaring May 15 as Tuberous Sclerosis Complex Awareness Day from the Town of Bluffton, the Town of Hilton Head Island, and the State of South Carolina. For more information about TSC or the TSC Alliance, visit tscalliance.org.

Amy Coyne Bredeson of Bluffton is a freelance writer, a mother of two and a volunteer with the Tuberous Sclerosis Alliance.