Our advanced, multidisciplinary and coordinated approach to care sets us apart from other muscular dystrophy programs and providers.
All muscular dystrophies are genetic diseases. Confirming the patient’s diagnosis through genetic testing is vital to accurate identification of the disorder’s genetic pathway, prognosis and potential treatments. Patient evaluation also may include an assessment of the child’s cardiac and pulmonary function, DEXA bone scanning and other neurological tests.
DMD is a muscle-degenerating disease that not only affects mobility, but also can cause heart, respiratory and other complications, leading to decreased life expectancy. A comprehensive, multidisciplinary approach to care is vital to delaying and minimizing symptoms and helping the child remain as comfortable, engaged and active as possible.
At Stony Brook Children’s, the DMD team includes experts in neuromuscular disorders, cardiology, genetics, pulmonary medicine and other specializations in addition to a full range of therapies, nutrition and support services. The team works closely with the family, as well as with primary care physicians, to address the child’s total needs.
A key member of the DMD team is a dedicated nurse who serves as the coordinator and main liaison between the family and the rest of the team. The nurse coordinator prescreens incoming patients and obtains their medical records, and ensures that the family’s needs are being accurately anticipated, and that patients and providers are effectively communicating. The coordinator also schedules care center visits – designated days when families can see multiple specialists in a consolidated block of appointments at the Center. This not only reduces stress on families, but also fosters a faster and better flow of information among providers. If advanced imaging services such as cardiac MRI are required, the initial evaluation may be a two-day process, and patients and families from out of town are assisted in finding overnight accommodations.
Support and Advocacy
The DMD social worker helps identify resources that foster wellness and independence, and serves as a vital communications link with schools regarding accommodations and support services. The social worker helps families, advocating on their behalf and accessing resources to ease the financial concerns of raising a child with significant medical needs.
Rapid Application of New Knowledge
Historically, boys with DMD usually did not survive beyond their teen years. Today, survival into the late 20s is more common and there are some cases of men with DMD who survive beyond. At Stony Brook Children’s, we are committed to improving the care of DMD patients by rapidly bringing evidence-based medicine and best clinical practices to our DMD patients. The drug Exondys 51 is an example. Provisionally approved by the FDA in September 2016, Exondys 51 is the first treatment indicated for patients who have a specific confirmed mutation of the dystrophin gene, which affects about 13 percent of the population with DMD.
Stony Brook Children’s, as part of an academic medical center and research leader, can identify clinical trials to benefit muscular dystrophy patients as we continue to fight this disease on multiple fronts.