Sheila Smith of Brookhaven, Miss., can't get over the feeling that myotonic dystrophy is an unwelcome, and unexpected, intruder in her family.
It started in November 1998, when her husband, Michael, then 33, had a car accident. "We feel that he fell asleep at the wheel," Sheila says.
|Sheila and Michael Smith with their children, Mick and Whitney.|
In the months leading up to the accident, Michael had learned he had cataracts and had surgery to remove them, and he'd developed some other disturbing symptoms. He'd shown signs of sleep apnea, a periodic cessation of breathing during sleep, and kept falling asleep during the day.
His hands, always weak (something he and Sheila attributed to football injuries), had lost so much strength that he'd had to give up his career as a truck driver.
Thinking a desk job would be better, Michael took up telemarketing, but that, too, proved unworkable as his speech became increasingly slurred.
While Michael's injuries from the car accident were serious, doctors predicted a good recovery. They told Sheila that her husband had broken some ribs and injured his spleen, and that his lungs appeared "bruised." They were placing him on a ventilator as a temporary measure while his injuries healed.
But Michael couldn't be weaned from the ventilator to breathe on his own. Further tests revealed the source of many of Michael's troubles, including his respiratory problem: He had myotonic dystrophy.
Further investigation revealed that Michael's entire family was affected by the disorder, including the congenital form in a daughter of his cousin.
Those in the immediate family had their lives turned inside out. Sheila gave up her career plans to take care of Michael.
|Back row, from left: Mark Smith, Larry Smith and Matthew Smith. Front row, from left: Gretchen Brumfield, Michael Smith and Elana Brumfield. Larry and his three sons, Mark, Matthew and Michael, and their cousin, Gretchen, have myotonic dystrophy. Gretchen's daughter Elana has the congenital form.|
"I feel I'm a self-made nurse," she says of caring for her ventilator-dependent husband around the clock in their mobile home.
After two years with little or no help, Michael became eligible for Medicare's disability program, which provides some nursing care.
Changes in Michael's ventilation system (he now uses a bilevel pressure system delivered through a tracheostomy) and improvements to his cardiac care have made a difference.
"He was a totally new person," Sheila says of the improved ventilator setup. "There's no more drowsiness. It's been a wonderful turnaround."
Michael, now 36, spends his time reading adventure stories by Louis L'Amour and "aggravating my kids." His family, he says, are his life now, and because of them, he's "not ready to give up."
Sheila worries about the health of her two children. "If we had known this was in our family, we would have elected not to have children," she says.
Greater awareness of the disease, she says, would help everyone — at least until there's a cure.
The Smiths have decided to wait until the children are old enough to make their own decisions about genetic testing for myotonic dystrophy (a policy upheld by many U.S. medical centers).