If researchers can understand the rare disease that causes tumors to grow in Brynleigh Shillinger’s tiny heart, their knowledge may one day help the world cure cancer.
Brynleigh is a bubbly, blue-eyed 2-year-old who loves books. She has tuberous sclerosis complex, a genetic disease that causes benign tumors to grow in the brain, heart, eyes, lungs, on the skin and in major organs.
The tuber-like tumors often grow stiff over time, crowding out healthy cells and affecting bodily functions.
Brynleigh has about 15 benign tumors: three in her heart and about a dozen in her brain. The tumors in her brain put her at nearly-constant risk of a seizure.
Her parents, Adamstown residents Lauren and Sean Shillinger, are pushing Maryland lawmakers to fund tuberous sclerosis research that could also shed light on the mechanisms behind autism, cancer and epilepsy.
In the past few months, they’ve met with representatives for each of Maryland’s congressmen to make their case for tuberous sclerosis research.
The Department of Defense’s Tuberous Sclerosis Complex Research Program is funded through congressional appropriations. About $53 million has been appropriated for tuberous sclerosis research from fiscal years 2002 through 2014.
The Tuberous Sclerosis Alliance is pushing for continued funding at $6 million for the next year, fiscal year 2017.
The goal of the Department of Defense program is to encourage innovative research into the causes of the rare disease and how to prevent and treat it.
Tuberous sclerosis affects 25,000 to 40,000 people in the U.S., according to the National Institutes of Health.
Brynleigh’s form of tuberous sclerosis was caused by a mutated chromosome and a missing protein that is supposed to suppress tumors.
There is currently no cure for the disease, but researchers who can find the reason for the tumors’ growth may find the key to other health issues, including epilepsy, cancer and autism.
“A lot of things that affect kids with tuberous sclerosis, such as seizures and developmental problems, affect kids with a lot of other illnesses,” said Dr. Paul Feinberg, Brynleigh’s pediatrician at The Pediatric Center in Frederick. “So it’s possible that some type of a treatment could help kids with similar problems, even from a different cause.”
Brynleigh was the first patient Dr. Feinberg had seen with tuberous sclerosis, but not the first with a rare disease. As the medical community learns more about rare diseases, he said, doctors are better able to identify them.
“The more awareness there is for things like tuberous sclerosis, the more we learn about it, and the better we can take care of patients who have rare diseases,” Dr. Feinberg said.
In the meantime, the Shillingers are connecting with local parents whose children have tuberous sclerosis, and providing support where they can.
They have also put together a team to walk in the 2016 Tuberous Sclerosis Alliance’s “Step Forward” walk in Washington, D.C. Participants raise funds for tuberous sclerosis research.
The Shillingers’ team, “Brynleigh’s Believers,” has raised about 90 percent of their $2,000 goal.
“We’ve embraced her diagnosis,” Lauren said. “We’re not gonna let it define her.”