Why should children with Duchenne muscular dystrophy (DMD) use breathing devices when they don’t have a respiratory illness? Or take heart failure medication when their heart function appears to be fine?

Because preventive care, provided early, adds to the length and quality of their lives. And that’s what the team behind the DMD clinic at Children’s Health℠ wants for every child they treat.

The clinic takes a multidisciplinary approach to patient care, focusing on early intervention to prevent predictable problems with breathing, heart failure and other known risks for DMD patients. It is an official Muscular Dystrophy Association Care Center and Parent Project Muscular Dystrophy Certified Duchenne Care Center, as well as a driving force in DMD research and magnet for clinical trials, including exon-skipping therapies and gene therapy.

The multidisciplinary model means that each patient sees everyone on their care team and gets all their tests done in a single visit. The number of patients coming to see the team has grown so much that the team has doubled their clinic days, holding the clinic twice a month instead of just once.

“The power of our clinic is really twofold: Helping each other provide the best care for these kids, and helping them have the best experience and outcomes,” says Susan Iannaccone, M.D., Pediatric Neurologist at Children’s Health and Professor at UT Southwestern, who established the clinic in 2005.

Combining Multiple Appointments Into a Single Visit

The clinic follows 200 children with DMD, coming from cities across Texas and neighboring states. Most patients come to the clinic every six months.

At each appointment, patients see physicians and nurses in neurology, pulmonology and cardiology, as well as physical therapists, occupational therapists, social workers and other specialists. This combines what could otherwise be as many as six different appointments into one visit, sparing families from traveling excessively and missing multiple days of school.

For the care team, it enables members to quickly collaborate. Michelle Caraballo, M.D., Pediatric Pulmonologist at Children’s Health and Assistant Professor at UT Southwestern, says team members pop into each other’s rooms throughout the day to ask questions, as well as emailing and texting on non-clinic days.

As a result, they can make decisions in real-time, and patients don’t have to wait for treatments that can help them. In addition, every provider is aware of what the others are recommending and can back each other up when patients raise questions.

“It makes a huge difference to families seeing we’re all on the same page,” Dr. Caraballo adds.

Knowing the Nuances of DMD

Being on the same page also means understanding the complex challenges that DMD poses for a child’s care. For example, DMD can weaken the internal abdominal muscles and cause stool to obstruct the intestine. At the ER, an unfamiliar team may mistake this for an acute abdomen, anesthetize the patient and perform surgery.

“But children with DMD can develop malignant hyperthermia during anesthesia,” Dr. Iannaccone says. So providers must consider which anesthetic agents to give to these patients.

The standard for postoperative care is to give opioids, but DMD patients require different pain medication, because opioids will cause their slow bowel motility to get even worse.

“Misunderstanding this disease creates the worst kind of domino effect, which is why an experienced and coordinated center like ours is so valuable,” says Dr. Iannaccone.

Prolonging Life with Respiratory Support

The team closely monitors the progression of the disease in every patient, so they can intervene as early as possible – ideally before problems develop. For example, Dr. Caraballo tests a patient’s pulmonary function at every visit and provides devices to help them breathe when she observes their chest muscles weakening.

“Respiratory issues used to be the leading cause of death among kids with DMD, but with the interventions we use today, that’s no longer the case,” she says.

Early in a patient’s care, Dr. Caraballo is focused on his ability to cough. If children are too weak to cough effectively, they can’t clear mucus from their lungs when they get sick. This can allow common colds to turn into pneumonia. To prevent this, Dr. Caraballo prescribes a CoughAssist device, which works just as it sounds: puffing air in to help the child get a deep breath and then sucking out to help them exhale forcefully.

“I’m not waiting for the first instance of pneumonia. I want the child to practice and get used to the device before they get sick,” she says.

Later, usually in the teenage years, she prescribes a breathing machine for patients to use during sleep. This prevents shallow breathing overnight from raising carbon dioxide in their blood to dangerous levels. Her first choice is usually a BiPAP machine, because it has different pressure settings for inhalation and exhalation. This makes it more effective at expanding the lungs for deep breaths and expelling carbon dioxide than the “constant” settings of CPAP machines, which often cause fatigue and may even trigger apnea in kids with DMD.

“That’s another example of the specialized knowledge a team like ours needs to have,” says Dr. Iannaccone.

Preventing Heart Failure in DMD Patients

Now that we can support their respiratory health more effectively, heart failure has become the leading cause of death in DMD patients. But the clinic at Children’s Health is committed to extending their patients’ lives as long as possible and finding new ways to treat them.

For example, Ryan Butts, M.D., Pediatric Cardiologist at Children’s Health and Associate Professor at UT Southwestern, aims to have every one of the clinic’s patients on at least one form of heart failure medication by age 10, and on three forms by the time they graduate high school.

“Kids live longer on three meds than just one or two, and we start early so we can add medications and increase dosage incrementally,” he says.

Dr. Butts and Nelia Soares, APRN, also participate in the Duchenne section of the ACTION network, a national quality improvement collaborative that explores new and better ways to prevent heart failure in DMD patients. Their colleagues at UT Southwestern are exploring how CRISPR gene techniques can reverse the weakening effects that muscular dystrophy has on the heart muscle.

While we work on future breakthroughs, the therapies of today are already producing triumphant results. Recently, an adolescent boy at the DMD clinic developed cardiomyopathy, but the team optimized his medication and now the patient has returned to normal function.

“Ten to 15 years ago, most cardiologists would say that isn’t possible,” says Dr. Butts. “But thanks to our team commitment to prevention and early intervention, today it is.”

Learn more about DMD treatments and support at Children’s Health