Mary Louie, a Portland resident with CMT, is raising awareness and funds for research to treat the rare neurological disorder during CMT Awareness Month.
PORTLAND, Maine — It is one of the most common inherited neurological disorders, and it affects up to 150,000 people in the United States. An estimated 600 Mainers have Charcot-Marie-Tooth disease, also known as CMT. Â
This progressive disorder damages nerves, which makes muscles smaller and weaker over time. September is CMT Awareness Month.
Mary Louie, a CMT patient in Portland, is working to raise awareness and fund research for a cure and better treatments for this rare disease.
From early childhood on, Mary Louie knew she could be a carrier of a rare and progressive neuromuscular disease. Â
“I grew up knowing there was a 50 percent chance both my sister and I did,” Louie explained.
Mary’s mother and grandmother both had Charcot-Marie-Tooth disease, or CMT. This inherited condition affects the nerves and causes muscles in the arms, hands, and legs to become smaller and weaker. It can make walking difficult and lead to numbness. Mary was active in high school, but as a young adult, she could no longer stand on her toes.
She also underwent genetic testing, which found a new mutation of the disease.Â
“It took approximately four years to confirm the diagnosis,” Louie said.
After she had her two children, her symptoms became more severe. She developed foot drop, which means she could no longer lift the front part of her foot.
“It’s like dragging your foot around that doesn’t want to keep up with you; they get drained,” Â Louie added.
Doctors suggested that Mary use AFOs, which are leg braces that help prevent foot drop, reduce falls, and improve balance. She also joined the Portland branch of the national nonprofit Charcot-Marie-Tooth Association, or CMTA. Mary, who grew up on Peaks Island, started the first Peaks Island Walk 4 CMT 13 years ago. She is also the CMTA’s National Events Director and will lead the walk again this Sunday. Most of the money raised goes to the CMTA to support research, develop treatments, and work toward a cure. Jeana Sweeney, who also has CMT and is the chief engagement officer of the nonprofit, says they have raised 33 million dollars to help patients.
“Right now we have more clinical trials happening in one year than we have ever had,” Sweeney said.
Mary and other patients want to highlight the importance of early detection, especially since September is CMT Awareness Month.
Genetic testing is a meaningful way to confirm the disease, which is caused by changes in over 100 different genes. In Mary’s case, the disease was not found until later in life. Some people may not have a family history but still show symptoms of CMT.
“Ask your doctor; they may not be familiar with the disease, and you two can learn together if it is a good path for you to take,” Louie said.
The Peaks Island Walk 4 CMT is free and open to the public. The event begins at 1 p.m. this Sunday at the Inn on Peaks, 33 Island Avenue.
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