In 2008, Eunice and Andrew Kim were facing a situation that would bewilder any parents: Two expert pediatric surgeons were giving opposing advice about treatment for their daughter.
“We're super excited about the standard-of-care document”
Two-year-old Sophie's severe muscle weakness was making it hard for her to walk. Physicians suspected she had a form of congenital muscular dystrophy but had not reached a diagnosis. And the two surgeons who had seen Sophie disagreed on whether corrective hip surgery — a treatment used for some forms of CMD — would improve her condition.
"It was very confusing for us," said Eunice Kim, whose family lives in Sunnyvale, Calif.
A new publication developed by an international team of pediatric neurologists will soon be helping families like the Kims. The physicians have written the first standard-of-care guidelines for children with CMDs, a rare, devastating group of inherited diseases that cause progressive muscle weakening. The new publication provides the first comprehensive medical consensus on how these complex disorders should be diagnosed and managed.
"The care that these children receive has been very variable," said pediatric neurologist Ching Wang, MD, PhD, who treats Sophie at Lucile Packard Children's Hospital and led the development of the new guidelines. Congenital muscular dystrophies, which affect between one in 20,000 and one in 100,000 births, can impair mobility, breathing, eating, cardiovascular and neurologic function and can markedly shorten patients' life spans. Yet because the diseases are so rare, most general pediatricians and even some neurologists have little experience meeting patients' complex medical needs.
The new guidelines will be published in the December issue of the Journal of Child Neurology.
"Clinicians often are lost on how to take care of these kids," said Wang, who is also an associate professor of neurology and neurological sciences at the Stanford University School of Medicine. Children with CMD might need physical therapy to improve their mobility, bracing or surgery to compensate for severe scoliosis, a feeding tube to allow them to eat and respiratory support to augment reduced lung function. More than half of patients never learn to walk, or lose the ability to walk as their disease progresses. The standard-of-care guide will help physicians navigate the complex array of treatments.
To develop the guidelines, in 2009 Wang assembled a team of 82 CMD experts from around the world, including Anne Rutkowski, MD, co-founder of Cure CMD, a charitable organization that sponsored development of the new guidelines. Rutkowski, a Los Angeles physician, has a daughter with CMD. The experts surveyed clinicians to assess current treatment practices and reviewed the medical literature for seven areas of CMD care: diagnosis, neurology, pulmonology, cardiology, nutrition/gastroenterology, orthopedics/rehabilitation and palliative care. The team also organized a family survey to see which practices the families of CMD patients found useful and needed. They collated their findings into a large database. The team then met in Brussels in November 2009 to review this database, and combined it with the current literature and their practice experience to achieve consensus on care guidelines and write the final document.
Wang anticipates that the new guidelines will enable several improvements in patients' lives. Diagnosing CMD, which usually appears in infancy, often takes longer than necessary, he said. "We think the new diagnostic guidelines will save these families the pain of going through unknowns, having test after test, and sometimes still not reaching a diagnosis."
The Kim family knows firsthand what that pain feels like. Sophie wasn't definitively diagnosed until March 2009, when her care team finally identified Ullrich CMD, which interferes with formation of collagen, the connective tissue that stabilizes joints and helps hold muscles together. The disease is so rare that an experienced pediatric neurologist might see one case in a lifetime.
"We're super excited about the standard-of-care document," said Eunice Kim.
Not only could standard-of-care guidelines potentially have sped Sophie's diagnosis, they could also have helped clarify the two surgeons' conflicting advice. Children with Sophie's diagnosis heal poorly, making surgery a bad choice. The progression of her condition means that Sophie will likely lose the ability to walk within the next year, Kim said — but her mobility would likely have deteriorated even faster had she gone through surgery.
"Dr. Wang's recommendation was not to operate," Kim said, explaining that he helped the family sort through the surgeons' advice. "That was a really great intuitive decision on his part."
The new publication also provides specific guidance about preventive care to slow disease progression. For instance, following the new guidelines, Wang and the pulmonary team at Packard Children's will soon begin evaluating Sophie's breathing to see if she needs respiratory support at night. Weak breathing during sleep, which usually appears long before CMD patients experience daytime respiratory problems, reduces the amount of oxygen a child receives. Proper respiratory support to boost nighttime oxygen levels helps encourage growth and stave off muscle weakening.
In short, the new care guidelines should help patients live the fullest, healthiest lives possible. That's important both to physician-scientists and to parents like Kim, who wants the best for her lively little girl. "She is an extremely chatty young woman," Kim said of Sophie, adding that her daughter loves to tell stories, sing and wave at everyone she sees. "She has a lot of character."
The guidelines will also help families of CMD patients obtain insurance coverage and will provide a good foundation for advancing the science of CMD treatment.
"There are several therapeutic targets on the horizon for which therapeutic trials are feasible in the next few years," Wang said. The new guidelines will provide a uniform baseline treatment that researchers can compare to potential therapies, he added. "Without established care standards, it would be almost impossible to conduct a scientifically valid clinical trial."
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