Friday evening event to assist Shelton resident battling rare disease
Although they look healthy, Michele Kekac of Shelton and Doug Sutherland of Trumbull, struggle with Charcot-Marie Tooth (CMT) disease, a rare inherited neuromuscular disease.
“It’s often called the ‘invisible’ illness,” Kekac said.
To raise awareness about CMT, which affects 2.6 million people worldwide, and to support the Charcot-Marie-Tooth Association (CMTA) Star Research program, Kekac has organized a fund-raiser on Friday, Sept. 13, at 6 p.m. at the White Hills Fire House, 2 School St., Shelton.
“A Slice of Hope for CMT: A Pie Night” will feature slices of pizza pies and an assortment of specialty dessert pies donated by local businesses. Raffles, DJ dance music and non-alcoholic beverages are included in the $15 admission price.
The event is co-sponsored by CMTA and the Southern Connecticut CMT Support Group.
CMT Awareness Month
Sutherland, an engineer, is active on the Trumbull Democratic Town Committee. Based on Sutherland’s request, Gov. Dannel Malloy recently declared September as CMT Awareness Month in the state.
There currently is no cure or treatment for this progressive degenerative disease. Although Kekac is hopeful that medication to slow down the disease’s progression will soon be approved, she said $25 million is needed for CMT research.
Was diagnosed in 2005
A 32-year old Brazilian native, Kekac lives in Shelton with her husband, John, a Shelton police officer. She was diagnosed with CMT in 2005 after seeking medical assistance for pain she had been experiencing in the bottom of her feet.
“I used to feel pain with every step I took,” Kekac said. “It started in my thighs and I had cramping in my calves.”
When she was first diagnosed with CMT, Kekac’s lifestyle didn’t change. She finished college, commuted from her hometown in New Jersey to a job in Manhattan, and enjoyed a long-distance romance with her future husband, John, who lived in Connecticut.
Unfortunately, Kekac’s symptoms got worse. In 2010 she decided to undergo two major reconstructive surgeries on her feet. “The surgeries helped immensely,” Kekac said.
Overexertion is an issue
However, she continues to feel chronic pain in her legs. Kekac tires easily and her balance is “not great,” she said. “I can’t walk for extended periods of time without getting tired,” Kekac said.
She has to be careful not to overexert herself while performing every day chores, such as grocery shopping and cooking a meal. “The amount of time it takes me to recover from overexertion is a day or two,” she said.
To combat her fatigue, Kekac recently acquired a scooter. She also takes care of her body through yoga, pool therapy and physical therapy.
Impact can vary
CMT affects people differently. “It’s highly variable from person to person,” Sutherland said. “This is frustrating because you don’t have a lot of role models.”
Like Kekac, Sutherland was diagnosed in his 20s. Because his feet also are affected, Sutherland began to wear a brace on each leg 25 years ago.
However, Sutherland doesn’t experience the pain or chronic fatigue that Kekac continues to feel.
Sutherland was diagnosed with CMT in the 1980s when he asked his primary care doctor how to strengthen his “weak ankles.” More than 30 years ago, very little was known about CMT, he said.
“The doctor said he’s sending me to an orthopedist and then the orthopedist said I’m sending you to a neurologist,” Sutherland explained.
Issues with feet and hands
Although Sutherland sought a second opinion, a different neurologist confirmed the original diagnosis.
At first, he used custom orthotic foot beds to alleviate the pain in his feet. Sutherland then purchased an ankle-foot prosthesis brace to help lift his foot. The braces cost $1,500 each; only some insurance plans will pay for them.
“If you don’t look at me closely, you wouldn’t notice I have an odd gait,” Sutherland said.
Sutherland’s hands also are affected by the disease. He has difficulty with tasks requiring fine finger control, such as pinching. “Picking up a paper clip is challenging,” he said.
Appreciating the little things
Sutherland said many people who have CMT are high-achievers because they have to be focused and persistent.
“I think CMT has a lot to do with the kind of person I am,” Sutherland said. “I appreciate the little things in life. I try to help others because you don’t have to look far to find people that are worse off than you are.
“My CMT makes me keenly aware that even though someone looks perfectly fine on the outside, you never know what hidden challenges they are facing on the inside,” he said.
Despite their handicaps, Kekac and Sutherland are hopeful that continued research will help those who have been diagnosed with CMT.
For more information about “A Slice of Hope for CMT: A Pie Night,” call Michele Kekac at 203-513-8268.