Tuberous sclerosis is a genetic disorder that affects many different organs, primarily the brain, eyes, heart, kidney, skin and lungs. Approximately 50,000 people in the United States and 1 million people worldwide are diagnosed. Symptoms usually appear in children before the age of 6 months, and are often neurologic–including either epileptic seizure or varying degrees of mental handicap. 

What’s the damage?

“We know from following patients throughout their lifetimes that there is a very high risk of developing seizures,” says Dr. Bebin, TSC Clinic Co-Director at the University of Alabama at Birmingham. Because of the young age at which symptoms often occur, Bebin emphasizes the emotional stress this puts on parents, and for neurologists. “We try to focus attention on early diagnosis so that we can better manage the seizures,” she says.

Managing the effects

With significant advancements in research and treatment in the last 10 to 15 years, tuberous sclerosis is, according to Dr. Bebin, “one of the model conditions that researchers are looking at to find a cure, improve quality of life and impact the different aspects of conditions patients face as they grow older.”

“'We try to focus attention on early diagnosis so that we can better manage the seizures.'”

For neurologists, the focus is on seizures and epilepsy, but also pressure and anxiety, explains Bebin: “One of the biggest issues with seizures is safety,” which is why it’s the top priority for physicians and researchers.

“One of the keys is early diagnosis and recognition that patients have access to physicians that understand the disease and how to monitor it throughout their lives.” Bebin emphasizes that the growing number of specialized physicians has improved treatment and quality of life significantly for patients around the world. Physicians are now partners to their patients and families to support them in living their lives to the fullest.

This patient-physician relationship has “changed dramatically in the last decade,” says Bebin, with over 50 clinics across the country with experts that people can seek out and get advice. Bebin also recommends asking as many questions as patients and loved ones feel is necessary, and to find a physician who will not only help patients take care of day-to-day health issues but also provide further options, like clinical trials, new treatments and TS communities.

The Tuberous Sclerosis Alliance is a supportive advocacy group with a strong community, allowing families to connect and recognize that they are not alone. With social media groups available as well, they are creating a community that’s as accessible as possible.