Duchenne muscular dystrophy carriers carry on, despite uncertainty

by Margaret Wahl

When Rena Szymanski turned 40, she expected to slow down a bit. She never had been athletic, and it sometimes seemed to her that climbing stairs was harder for her than it was for other people, but she thought her strength was “normal” in general.

Soon after her birthday, though, she noticed increasing weakness. “I didn’t know what was wrong with me,” says Szymanski, who until recently was working at a stressful job an hour away from her home in Stony Point, N. Y. To her knowledge, there is no history of muscle disease in her family.

After first consulting a rheumatolo-gist (inflammatory disease specialist), who didn’t find anything, she traveled

to Columbia University Medical Center in New York and underwent a muscle biopsy and DNA testing.

The diagnosis was “manifesting carrier of Duchenne muscular dystrophy,” with a mutation in the gene for the muscle protein dystrophin.

The classic definition of a disease carrier is someone who can pass the disease to others but doesn’t show symptoms. But manifesting carriers are carriers who show (manifest) symptoms of the disease themselves. Some estimates are that as many as one in 10 carriers of DMD or its less severe variant, Becker MD, have signs of the disease themselves. Usually, the signs are relatively mild — but not always.

“Just to take my daughter shopping at a mall is a big, exhausting thing,” says Szymanski, who is considering getting a power chair for long distances. So far she still can walk short distances and drive, but she wonders what the future holds. Unfortunately, no one seems to have any clear answers.

There was something wrong

The Smiths were suprised when Chloe (far right) didn’t meet her motor milestones.

Like Rena Szymanski, Karen Smith of Madison, Ala., knows of no family history of muscular dystrophy. So when their infant daughter, Chloe, wasn’t meeting the usual motor skills milestones, the former elementary school teacher and her husband, a physicist, were taken by surprise.

Karen’s mother, a nurse, suspected something was wrong, but the family’s pediatrician recommended waiting until Chloe was 6 to 9 months old before getting concerned.

“At her 9-month checkup, they gave us a questionnaire,” Karen recalls, “with questions like, ‘Does the baby crawl? Does she pull herself into a sitting position?’ I couldn’t answer yes to any of them.”

A referral to a cerebral palsy clinic revealed that Chloe was “significantly delayed.”

“I sat in the parking lot and cried,” Karen says. “I felt so over-