Kids helping U. researchers find treatment for childhood muscular dystrophy


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SALT LAKE CITY — A first of its kind study at the University of Utah is offering hope to families with children battling a rare disease. Researchers are watching these kids grow and develop in an effort to unlock the secrets to a drug treatment for a childhood form of muscular dystrophy.

Six-year-old Kate Conte is walking, running and lifting for her physical therapist. She has gotten faster and stronger over the past year, but that growth hasn't been easy. Kate was born with a rare genetic condition called congenital myotonic dystrophy.

"It's been a big learning curve in the past six years," Elizabeth Conte, Kate's mom, said.

"It's a very challenging disease to research because the symptoms can be so different in different children," said Dr. Nick Johnson, a neurologist at the University of Utah Medical Center. But Johnson wanted to learn if this childhood form of muscular dystrophy could be treated with drugs that show promise for adults.

"In the past there hasn't been a lot of information to offer hope," he said.

"We try to remain optimistic while realistic, which is challenging," Kate's dad, Dave Conte, said.

After two years and tests on dozens of kids like Kate, there are some positive results. "Kids invariably enough end up being able to come off the ventilator, they're able to walk, they're able to interact and perform at school, etc.," Johnson said.

Children in the study range from 3 months to 13 years old. Lisa Payne's 3-year-old grandson, Michael, is part of the study. "Michael does his ABC's, does math, and has already started to read," Payne said.

There are also two families from the United Kingdom who have crossed the Atlantic twice to put their sons in the study. Sarah Ruane adopted her son Josh when he was just a baby. Josh's birth mother had developed muscular dystrophy and could not care for him. Ruane is a nurse in England and cared for Josh after his birth. "My hope for the study … is that obviously a treatment is going to be found to help with the progression of the condition. That's my ultimate hope," she said.

About childhood muscular dystrophy
  • Muscular dystrophy (MD) is a genetic disorder that gradually weakens the body's muscles. It's caused by incorrect or missing genetic information that prevents the body from making the proteins needed to build and maintain healthy muscles.
  • A child who is diagnosed with MD gradually loses the ability to do things like walk, sit upright, breathe easily, and move the arms and hands. This increasing weakness can lead to other health problems.
  • There are several major forms of muscular dystrophy, which can affect the muscles to varying degrees. In some cases, MD starts causing muscle problems in infancy; in others, symptoms don't appear until adulthood.
  • There is no cure for MD, but researchers are quickly learning more about how to prevent and treat it. Doctors are also working on improving muscle and joint function and slowing muscle deterioration so that those with MD can live as actively and independently as possible.
  • Source:Kidshealth.org

Katie Douthwaite has brought her adopted son Conner from England to participate in the study. "We're all together, we're all in the same boat, we all understand about each other's children," Douthwaite said.

Four of the families joined in renting a home in Salt Lake City while taking part in the testing. "The kids get to meet each other and personally, I find it really comforting to be around the other parents," Ruane said.

Payne, who is from rural Oregon, found out about the study and the chance to spend time with other families on social media. "Social media has really opened up, really opened up support for so many people who are so isolated," Payne said.

The Contes felt isolated in Florida after Kate's diagnosis, until a computer message arrived from a California mom. "And I read what she wrote to me, and it was very heartfelt. And she was just reaching out to say there is research out there," Elizabeth said.

"It got us on our path of understanding and for a disease that's very difficult to understand," Dave Conte said. Now Dave and Elizabeth have made a promise to Kate and other kids with this disease. They're raising funds for research. "We felt there is a duty to give back and help as well," Dave said.

Elizabeth, a special education teacher, is helping Kate with academics and speech. "I think God prepared me to have Kate," she said.

"This has been an incredibly rewarding experience to be doing this research," Johnson said. Kate and the other children in the study have already shown remarkable growth, but Johnson said, "They have this profound oral and facial weakness and they're not able to smile even if they're wanting to smile."

Johnson is working hard to correct that. But for now, these kids show happiness in other ways. Kate enjoys dancing and celebrating life.

The initial part of the study is scheduled to wrap up next year. However, Johnson is hoping to keep it going so that he and his research team can get a clearer picture of the kind of drugs and treatments that will eventually improve the quality of life for children with congenital myotonic dystrophy.

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