Rare Genetic Disease Runs Through Some Central Maryland Families

James Rada, Jr.

Families can pass along many traits through the generations. Eye color, facial structure, even a propensity to bear twins. Unfortunately, they can also pass along diseases.

Sue Clabaugh’s family has been in the Thurmont area for hundreds of years. One line of her family tree goes back to John Jost of Wittgenstein, Germany. It is through his line that a genetic disorder called hATTR amyloidosis has been passed. It is also known as “Eigenbrode Disease,” named for descendants of Jost, who are also part of Clabaugh’s family tree. It is a mutation in the transthyretin gene that causes misfolded proteins that accumulate in tissues around the nerves, gastrointestinal tract, and heart. There is no known cure.

“Many people, including doctors, have never heard of it or ignore it,” Clabaugh said. “I know I have a lot of relatives in areas who don’t know testing is free.”

She was diagnosed with the disease only seven months ago at age seventy-three. “It started with a horrible burning in my feet. Then I would get sharp pains at night that would go up my legs.”

The symptoms vary from person to person, but once they appear, they generally continue growing worse. Although it tends to strike senior citizens, Clabaugh has met people as young as thirty with the disease.

Her brother, Bill Eyler, was diagnosed five years ago. “Now he’s sixty-eight and in leg braces because he has no feeling in his legs,” Clabaugh said.

While there are some treatments available, they aren’t always effective. Once Clabaugh realized what the disease was, she remembered seeing family members at family reunions as a child. She thought even then that a lot of them had trouble walking or were in wheelchairs.

“I had no idea that it was amyloidosis until I became a nurse,” she said. “Even then, I never thought I would be on that list.”

Her father died at age fifty-six. “He used to have to change gears with one hand and push with the other because he had no feeling in his fingers,” Clabaugh said. Because the disease isn’t common, it is often misdiagnosed as neuropathy or lime disease. However, Clabaugh urges anyone in Central Maryland with those symptoms to be tested for hATTR amyloidosis. Some of the family names that have members with amyloidosis include Smith, Boyle, Munshouer, Martin, Fitz, Scott, and Eyler. The testing is free, and you can find out more information at www.alnylam.com.

Since being diagnosed with the disease, Clabaugh has been trying to learn all she can about it and get the word out to raise awareness about it.

“If I reach one person with this information and they pass it on, and they get some help, it would mean so much to me,” expressed Clabaugh.

She also wants doctors to be aware of how the disease manifests, because many of them aren’t aware of it. Doctors should be asking patients with foot, leg, or hand problems if other people in their family have the same problem. If so, then consider the possibility that it might be hATTR amyloidosis.