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Kalamazoo, MI—Disease with Funny Name is No Laughing Matter

Should you be given this Jeopardy answer, “It’s a genetic nerve disorder that has nothing to do with teeth,” the correct question is likely to be, “What is Charcot-Marie-Tooth Disease?”

Named after the three physicians who identified it in 1886, Charcot-Marie-Tooth disease affects about one person in 2,500, including Jori Reijonen, of Richland.

Reijonen, a clinical psychologist, had never heard of CMT, a group of genetic diseases that affect the peripheral nervous system, until her own case was diagnosed in 2009.

She’d been having a lot of difficulty with her left foot, she remembers, and “. . . it didn’t look right.” Although she’d always had flat feet, now she had a bump where the arch should have been and her toes were crooked.  Those changes and the pain she experienced while walking and exercising drove her to her doctor.

As with many CMT patients, Reijonen’s diagnosis did not come easily. First she was sent to a podiatrist, who took X-rays and attributed her problems to arthritis.

But the symptoms continued to grow worse.  Reijonen found that she couldn’t stand for more than 15 minutes without having her feet fall asleep and, even though she was taking dancing lessons and exercising every day, she was losing strength and coordination. She couldn’t stand on her toes, and she found herself dragging her feet. The pain was increasing.

So Reijonen returned to her physician, who next sent her to an orthopedic foot surgeon. That specialist recognized that Reijonen’s symptoms might be neurological and sent her to a local neurologist.

Diagnosis of CMT is based on medical history and neurological examination and testing. Reijonen’s reflexes in her feet and knees were shown to be slow or absent; her ability to sense pain in her feet and toes was decreased, and she had diminished feeling in her calves and feet. Genetic testing could have pinpointed the type of CMT Reijonen has, but a full battery of genetic testing, she says, would have cost more than  $15,000. That was not covered by her insurance, so Reijonen declined that testing.

Although CMT is a genetic disorder, Reijonen says that, to her knowledge, no one in her family had ever had symptoms. Both of her parents had mild peripheral neuropathy as they grew older, but they did not have the sort of symptoms that Reijonen experienced. Likewise, her brothers are symptom-free.

Reijonen says that the hardest part of CMT, for her, is the potential that her own children, now ages 3, 11 and 12 years, might one day display symptoms, though to date, none of them has.

Symptoms of the disease can show up any time from infancy to middle adulthood, and the most severe cases are frequently found in those children who display symptoms early. In those cases, they may, by their teens, be wheelchair bound.

The CMT cluster of diseases falls into two main types:  1) those that affect the myelin sheath, or coating, of the nerves, accounting for about 70 percent of cases; and 2) those which affect the axons, the “wiring” of the nerves, accounting for the remaining 30 percent of cases.

In patients with myelin problems, the speed of nerve conduction slows. In those with axon problems, strength of conduction is slowed. Reijonen’s CMT is axon-related.

CMT diseases are progressive, and Reijonen’s disease, she says, “will progress, no matter what I do.” She deals with that by trying to stay as healthy as possible. Exercise is crucial, she has found, but it needs to be as close as possible to non-impact, and it’s important to not exercise too much.

“I’ve noted that I don’t recover as quickly as I should, if I’ve over-exercised and my muscles get sore,” she said.

Reijonen’s chosen exercise routine includes walking, Pilates, yoga, light weight-lifting, tai-chi, swimming and kayaking. She said she tries to exercise five days a week, about 30 minutes each time.

She also wears ankle and foot braces to help hold her bones in place and keep her ankle and leg straight.

No medications exist to stop or slow the progression of CMT disease, but Reijonen says that some drugs can help control the symptoms. Low-doses of some anti-seizure drugs and anti-depressants and some opioids can help control burning and tingling sensations. Reijonen says she is not currently taking any medication.

Following her own diagnosis, Reijonen became active with the Muscular Dystrophy Association and the CMT Association. Neither had a support group for CMT patients in this area so, in November 2009, Reijonen started the Southwest Michigan CMT Support Group. Its more than 20 members meet on the third Thursday of every month, from 6 to 8 p.m. in Room 316 of Richland Bible Church in Richland.

For more information about the group, phone Jori Reijonen at 269-341-4415 or contact her at drreijonen@aol.com.

Some things to know

Reijonen tells people to be aware if they are experiencing symptoms such as a buzzing or burning or cold feeling in their extremities, or if there is a general loss of sensation.  The symptoms, she says, may be very subtle at first and hard to recognize.

“I minimized or overlooked these things for a while,” she said.

Sometimes symptoms such as these are due not to CMT, but to something treatable, like a response to a medication, so it’s important to contact a physician as soon as they are noted.

Reijonen says she has made a number of changes in her lifestyle to accommodate her medical needs.  She arranges her schedule to avoid long periods of walking or standing, which can cause her to lose function in her feet and legs. She teaches online classes and writes for an online network for women. Because prolonged typing can hurt her hands and forearms, she has recently switched to using a voice-recognition software program, instead of typing. And she’s also faced the fact that she can’t carry her 3-year-old son up and down stairs safely.

Charcot-Marie-Tooth disease, Jori Reijonen said in her online column in Bella Online, has a funny name, but for the estimated 2.6 million people worldwide who have it, it’s no laughing matter.

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