Crystal Proud, MD: Patients impacted by the diagnosis of Duchenne muscular dystrophy require multidisciplinary management. This is because dystrophin impacts muscles throughout the body, and lack of dystrophin in the muscles throughout the body impacts the ability of those muscles to be able to function at their typical capacity. We see weakness in the arms and legs, weakness of the respiratory muscles, and we see an impact, as well, to the cardiac muscles. In addition, we can’t forget about the muscles that allow us to do things like chew and swallow and those that impact bowel and bladder habits. So, it really requires a comprehensive team to be able to care for the patients with Duchenne muscular dystrophy.
In my multidisciplinary neuromuscular clinic, we have a neuromuscular specialist, which is myself. We typically also have a physiatrist, a physical medicine, and rehabilitation physician, that helps us to be able to make recommendations to provide accommodation to the patient so that they can pursue activities of daily living to their best ability. This may include devices such as wheelchairs, transfer boards, back chairs, braces, and they help to guide some of the therapies that we prescribe as well.
In addition, we typically have a physical therapist and an occupational therapist who provide evaluation and support to our patients. The physical therapist traditionally performs some routine standardized testing at each visit that allows us to be able to track the progress of the patients. This helps us to detect any decline in function , allowing us to know when it’s time to make some changes in our recommendations for supportive care. Our occupational therapist also helps provide some assessments that permit us to utilize those results to guide accommodations at home or at school.
In addition to those specialists, we also have a pulmonologist that helps to keep our lung function optimized. When we start to see that the respiratory muscles are impacted, we intervene with things such as CoughAssist devices and sometimes we utilize a vest to help loosen secretion. Ultimately, we end up utilizing devices to help support respiration, like a bilevel support device or bypass device.
In addition, we involve our cardiology specialists who routinely provide assessments through EKGs and echocardiograms, as well as potentially cardiac MRIs that allow them to guide recommendations for medication management to help optimize the heart function.
In addition to those specialists, we utilize an educational liaison to help communicate with the schools, particularly for those patients who are younger and might need accommodations within a school system. We also enlist the help of a dietician to help guide recommendations to optimize nutrition for these patients. We know that their nutritional needs may change as they reach certain degrees of weakness that limit their mobility and then change their metabolism. We also utilize the help of our social workers, both from a perspective of navigating the medical system, and also dealing with the emotions that come along with being different than one’s peers.
We have a comprehensive multidisciplinary group that facilitates the care of our patients, and we sometimes stretch beyond that typical and traditional multidisciplinary group, relying occasionally on our surgeons if we need them, like our orthopedic surgeons as well.
Amy D. Harper, MD: The multidisciplinary teams for the care of patients with Duchenne muscular dystrophy tend to have the same structure, but that structure may vary from site to site. When thinking about the medical specialists that a child or adult would encounter this would include a neurologist, a physiatrist, a rehab doctor, cardiologist, pulmonologist, an orthopedist, an orthopedist, as well as endocrinologist.
Majority of the time all of those specialists are in the clinic working together at one time to help to support the patient, decide surgeries, and decide the next best steps, in general. Then we have additional supports, a speech therapist may help that child with eating and monitoring eating to make sure that there is no difficulty with swallowing. They’ll work closely with the nutritionist to monitor weight and growth. The standard of care for boys with Duchenne is using steroids, this has a big impact on weight gain and on growth in general and can cause other problems like adrenal insufficiency or delayed puberty. So a nutritionist working together with an endocrinologist can help to monitor these parameters. Social workers are a vital component of any multidisciplinary clinic.
They help us with understanding psychosocial supports, understanding how that child will make certain transitions. Are they ready to make that transition? Additionally, an educational specialist is vital because they are the liaison to school and providing school support letters that will help to establish 504 plans or individualized education plans that are ideally fitted for that particular patient.
There can be additional ancillary services outside including parental or family support organizations. The identifying ophthalmologist and primary care doctor who are comfortable with multiple specialists is also important. It takes a village, my nurse coordinator describes our weekly clinics as a wedding to put it all together, but it’s the best care for the patients with Duchenne muscular dystrophy.