Rare Diseases

Iowan attempts race in all 99 counties to raise awareness for nephew’s rare disease

Tuberous sclerosis complex causes tumors to form in the body’s vital organs. Beth Adams’ great nephew, William, was just four years old when doctors removed two tumors from his brain.

Kim Norvell/Des Moines Register

INDIANOLA, Ia. — William Ihle was just 4 years old when doctors removed two of the dozen tumors that invaded his brain.

Though they were non-cancerous, the tumors wreaked havoc on William’s body and mind, causing seizures and developmental delays.

He was two weeks old when doctors determined William had a rare disease that affects only 1 million people worldwide. There’s no cure for tuberous sclerosis complex, or TSC, and little money is raised for research of the disease.

And because people with TSC have such a wide spectrum of symptoms, it often can go undiagnosed.

So William’s great aunt, Beth Adams, made it her mission to tell as many people as she could about TSC and the affect it has on families facing a diagnosis.

And she’s doing it the only way she knows how — by running.

Across all 99 of Iowa’s counties, in fact.

For two years Adams, of Indianola, has hit the pavement across the Hawkeye State, participating in organized races where she can find them. They’re 5ks, 10ks, half marathons and marathons. Anything that gets her connected with fellow runners so she can share the 10-year-old’s story.

William first saw a cardiologist when he was a week old for the heart murmur doctors heard when he was born. They found four rhabdomyoma tumors in his heart.

The cardiologist immediately sent William and his parents, Kari and Justin Ihle, to a geneticist for testing.

A week later, William was diagnosed with TSC.

“Immediately we went to a really dark place,” said Adams, who is Kari Ihle’s aunt. One of Adams’ nephews, Matthew Mason, had died of spinal cord cancer in 1998 at 12 years old. “We had never heard of (TSC) before.”

TSC is a genetic disorder that causes benign tumors to form in the body’s vital organs, including the brain, eyes, heart, kidney, skin and lungs, according to the TS Alliance, an organization dedicated to finding a cure for the disease. Tumors in the brain most strongly impact patients’ quality of life, causing seizures, developmental delays, intellectual disability and autism, the alliance says.

William’s condition was the result of a random mutation of his parents’ genes, his mother, Kari Ihle, said. Others who have it can pass the TSC marker to their kids.

The tumors in William’s heart were small. As his heart grew, the tumors stayed the same size. Doctors decided they didn’t need to be removed.

So the Ihles monitored their child, who for two years didn’t have any issues.

But then William started having myoclonic seizures two to three times a day. They were stabilized with medication, but came back when he was four years old.

That’s when doctors found 12 tumors in his brain. They removed the two that were triggering his seizures and the damaged tissue surrounding them. There’s still 10 tumors in his brain today.

“We just hope…