Improving Care for Muscular Dystrophy Patients.
Parent Project MD, an international nonprofit organization, is working to standardize DMD respiratory treatment. A new legislative act is an important first step.

d06a.jpg (12288 bytes)From left: Kimberly Galberaith, associate executive director; Pat Furlong, executive director; and Howard Kaplan, board chairman.

The quality of care, including respiratory, differs so drastically from region to region and city to town that boys with Duchenne muscular dystrophy (DMD), on average, die a year younger in the South than in the Northeast. That is the finding of a recent study1 conducted by the Centers for Disease Control and Prevention (CDC) in Atlanta. The study was mandated by the MD-Care Act, the first piece of legislation passed with the support of Parent Project Muscular Dystrophy (PPMD), an international nonprofit organization based in Middletown, Ohio, and dedicated to improving care for those with DMD, mostly boys, who eventually die of either respiratory or cardiac failure in their early 20s.

Executive director Pat Furlong started the organization in 1994 with 10 other parents from across the country. When her sons were diagnosed, Furlong asked what the standards of care were. “There were none,” she says. “Every physician has an opinion on what should be done, but there is no evidence based on practice.”

Respiratory compromise is a telltale sign of DMD, and trouble breathing at night is a definitive sign that a child is moving into a new stage in which respiratory secretions cannot be cleared and the cough response becomes inadequate.

One critical care component for this stage is assisted cough, either mechanical or manual. Despite that knowledge, Furlong says, a mother from North Dakota recently called the Parent Project to say that her son was having trouble breathing at night and the child’s primary physician told her she was just nervous. The Parent Project also received a call from a mother whose 15-year-old son had not been diagnosed with DMD until he was 8 years old, even though DMD takes a predictable age-associated course, in terms of both muscular function and respiratory function. Typically, DMD is diagnosed when a child is 4 years old, but can be detected in children as young as 2.

PPMD is working hard to correct that variability of care. Two of its major successes have been the MD-Care Act of 2001 that calls for centers of excellence and mandates the CDC to collect data on children with DMD; three centers will conduct research, move it from bench to bedside, and conduct clinical trials.

The other success is publication of the first-ever consensus document on the respiratory care of DMD patients.2 “A consensus statement is a guide, not a mandate,” says Jonathan Finder, MD, associate professor of pediatrics at the University of Pittsburgh School of Medicine and staff pulmonologist at Children’s Hospital of Pittsburgh, who headed the effort, but it will let insurance companies and the medical community know how experts care for DMD patients, reducing the need for parents to fight those battles alone.

“The technology, equipment, and knowledge exist, but are not widely distributed among the medical community,” explains H. Lee Sweeney, MD, scientific director for the Parent Project and chair of physiology at the University of Pennsylvania School of Medicine. “The advice parents get on care is all over the place. It is really frightening.” Part of the problem is that the patient population is so small—about 15,000 in the United States and 100,000 worldwide.

New data now being collected by the CDC as the result of PPMD’s work is another step toward standardizing care. From 1983 to 1997, DMD-associated deaths occurred at a significantly earlier age in the southeastern United States (median=19 years) than in other regions of the country (median=20 years), and a small but statistically significant increase in the median age at death for those with DMD occurred.

PPMD collected $2.5 million in 2003 donations and hopes to reach $4 million this year. Much of it will go toward research. “It is pretty well documented that steroids slow the progression of the disease, but it is not documented whether steroids benefit respiratory muscles. So some kids go off steroids when they stop walking,” says Sweeney. However, he says, it is now thought that steroids might actually help with the respiratory muscles even after the child becomes nonambulatory. Longer-term gene therapy research supported by PPMD focuses on how to target tissues as inaccessible as the respiratory muscles.

The Parent Project publishes a quarterly newsletter, maintains a Web site (, and recently produced a DVD that can be translated into any language and that details the disease, including its four respiratory stages.

Each year, PPMD hosts a conference. This year’s meeting will be held July 8-11 in Cincinnati and is open to families, the medical community, and caregivers interested in learning more about DMD. The Parent Project also hosts DMD Regional Roundtables, 1-day mini conferences that have been held in Raleigh-Durham, NC; Los Angeles; Chicago; and Seattle. Two others will be scheduled for this fall.

PPMD has four full-time and two part-time employees, all eager to connect caregivers and medical professionals with experts. “If you call with a question or an information need, we network,” says Kimberly Galberaith, PPMD associate executive director in charge of development and outreach. “Because we are small and mighty, we can get you connected to the right person.”

As of yet, DMD patients have no celebrity spokesperson on their side and so have struggled to gain recognition and funding. But with PPMD working on their behalf, movement is in the right direction.

Fran Howard is a contributing writer for RT.

1. Kenneson A, Yang Q, Olney R, Rasmussen S, Friedman JM. Mortality in Duchenne muscular dystrophy: an analysis of multiple cause mortality data, 1983-1997 (poster presentation). American College of Medical Genetics Annual Clinical Genetics Meeting; March 2004; Kissimmee, Fla.
2. American Thoracic Society. Respiratory care of the patient with Duchenne muscular dystrophy: an official ATS Consensus Statement. Am J Respir Crit Care Med. 2004. In Press.