Duchenne Muscular Dystrophy: Improving Patient Care Through Teamwork
Sep 07, 2017
Three of the scariest words you can hear as a parent are “Duchenne muscular dystrophy.” Duchenne Muscular Dystrophy (DMD) is a genetic disease that causes muscle weakness, eventual loss of the ability to walk, and failure of the heart and lung. It is important to note, that while there is small group of female carriers of DMD who show symptoms, DMD is seen primarily in boys. Boys with DMD typically do not survive past their twenties, but standardization of care and cutting edge research is changing this outlook.
What Is Multi-Disciplinary Care?
Multi-disciplinary care is essential in the management of DMD. To provide cutting-edge care a large care team consisting of neurology, cardiology, pulmonology, endocrinology, psychology, and many other supportive team members is required. When these team members work together, care can be optimized and individualized for each boy and family.
Often, a neurologist is at the center a patient’s DMD care team. It is often this person who orders the necessary testing for diagnosis, and this person will continue to follow care throughout the patient’s journey. Neurologists measure body strength and function, prescribe steroids (the only known medicine to slow the course of DMD), and offer other treatments that might be available depending on a boy’s specific genetic change.
The heart is a muscle, too. To make sure that the heart is cared for appropriately, a cardiologist will recommend regular echocardiograms or cardiac MRIs to measure the heart’s function. Other tests also help the cardiologist assess the heart’s rhythm. There are several medications available to help decrease the amount of work the heart has to do, as well as prevent scarring of the heart tissue. The cardiologist may prescribe a variety of medications to protect the child’s heart.
The lungs themselves may not be muscles, but there are several muscles that support the lungs that are affected by DMD. Children with Duchenne can have a hard time coughing effectively, and as the disease progresses, support is needed while sleeping, and sometimes during the day as well. A doctor will monitor lung function with pulmonary function tests and sleep studies. He or she may prescribe a cough assist device, which will support the child’s cough, or a BiPAP machine, to support breathing while asleep. Later in the disease, a child may need additional help breathing during the day. BiPAP, sip-vents, and other breathing machines can provide this support.
Endocrinologists also play a critical role in the care of boys with DMD. Since boys with DMD have weaker bones, an endocrinologist may order lab work or a bone density scan to measure bone health. There are medications that may be recommended to increase bone density and decrease the risk of fracture. Endocrinologists can also treat concerns related to growth, as many boys with DMD have slowed growth or delayed puberty.
DMD affects the brain, too. This can lead to increased risk of ADHD, anxiety, depression, learning difficulty, or other psychological problems. A neuropsychologist can complete an evaluation and provide recommendations to help with success at school. A psychologist or psychiatrist can also help diagnose and treat cognitive or emotional problems.
There are a lot of other members who are part of the care team, including occupational and physical therapists who will help optimize function and mobility, dieticians who will support a healthy diet and weight, social workers to help navigate school and the community, and genetic counselors to help parents understand the confusing genetics behind DMD. Nurses, nurse practitioners, and research coordinators will also support the patient and family in this journey.
As the first Certified Duchenne Care Center (CDCC) in the nation, Nationwide Children’s leads the way in creating this streamlined approach to ensure that every boy with Duchenne receives the best care possible.
Rachel Schrader, MS, RN, CPNP-PC serves as the nurse practitioner for Nationwide Children’s Hospital’s neuromuscular, MDA, and SMA clinics. She graduated with her master’s degree from Ohio State University.
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