Page 21 - July Banner 2017_Neat

Published by www.EPlusPromotes.com www.TheCatoctinBanner.com The Catoctin Banner Newspaper July 2017 Page 21
Rare Genetic Disease Runs Through Some Central

Mar yland Families

James Rada, Jr.

Families can pass along many horrible burning in my feet. Then I his fingers,” Clabaugh said. Because
traits through the generations. would get sharp pains at night that the disease isn’t common, it is often
Eye color, facial structure, even would go up my legs.” misdiagnosed as neuropathy or lime
a propensity to bear twins. The symptoms vary from person disease. However, Clabaugh urges
Unfortunately, they can also pass to person, but once they appear, they anyone in Central Maryland with
along diseases. generally continue growing worse. those symptoms to be tested for
Sue Clabaugh’s family has Although it tends to strike senior hATTR amyloidosis. Some of the
been in the Thurmont area for citizens, Clabaugh has met people as family names that have members
hundreds of years. One line of young as thirty with the disease. with amyloidosis include Smith,
her family tree goes back to John Her brother, Bill Eyler, was Boyle, Munshouer, Martin, Fitz,
Jost of Wittgenstein, Germany. It diagnosed five years ago. “Now Scott, and Eyler. The testing is
is through his line that a genetic he’s sixty-eight and in leg braces free, and you can find out more
disorder called hATTR amyloidosis because he has no feeling in his legs,” information at www.alnylam.com.
has been passed. It is also known as Clabaugh said. Since being diagnosed with the
“Eigenbrode Disease,” named for While there are some treatments disease, Clabaugh has been trying to
descendants of Jost, who are also available, they aren’t always effective. learn all she can about it and get the
part of Clabaugh’s family tree. It is Once Clabaugh realized what the word out to raise awareness about it.
a mutation in the transthyretin gene disease was, she remembered seeing “If I reach one person with this
that causes misfolded proteins that family members at family reunions as information and they pass it on, and
accumulate in tissues around the a child. She thought even then that a they get some help, it would mean so
nerves, gastrointestinal tract, and lot of them had trouble walking or much to me,” expressed Clabaugh.
heart. There is no known cure. were in wheelchairs. She also wants doctors to be
“Many people, including doctors, “I had no idea that it was aware of how the disease manifests,
have never heard of it or ignore it,” amyloidosis until I became a nurse,” because many of them aren’t aware
Clabaugh said. “I know I have a lot she said. “Even then, I never thought of it. Doctors should be asking
of relatives in areas who don’t know I would be on that list.” patients with foot, leg, or hand
testing is free.” Her father died at age fifty-six. problems if other people in their
She was diagnosed with the “He used to have to change gears family have the same problem. If so,
disease only seven months ago at with one hand and push with the then consider the possibility that it
age seventy-three. “It started with a other because he had no feeling in might be hATTR amyloidosis.

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