Assembling a Care Team
It is extremely important that you work with a multidisciplinary neuromuscular team that has experience and expertise managing all aspects of Duchenne and is able to meet the standards of Duchenne Care Guidelines.
Your neuromuscular team will be led by a neuromuscular specialist and will include many sub-specialists, each giving input into the best and most appropriate plan for your care. A care coordinator will help to organize your care, as well as communication between members of your team, your primary care providers, and you.
PPMD’s Certified Duchenne Care Center Program makes it easier for families to find centers with comprehensive care teams that are providing optimal Duchenne care. However, other clinics may also be providing optimal care that are not yet certified. Wherever you go for care, you should feel comfortable asking questions at the clinic to ensure you are receiving optimal care.
Members of Your Care Team
While all of these team members may not be necessary at every visit, or even at every stage of disease, the members of this team should include:
- Primary Care Provider (pediatrician, nurse practitioner, family medicine, etc.)
- Cardiologist (heart care)
- Care Coordinator (coordinates care and communicates with you, your primary care provider, and all members of the neuromuscular (NM) team)
- Dentist (tooth care)
- Developmental pediatrician (behavior and development)
- Endocrinologist (hormones care: growth, puberty, bone care)
- Gastroenterologist (GI)/Genitourinary (GU) (stomach/intestine care)
- Genetic counselor
- Neurophsychologist/psychologist/psychiatrist (psychosocial, learning, emotional, behavior, development care)
- Neuromuscular specialist (NMS; neurologist or Physical Medicine and Rehabilitation provider who will manage neuromuscular care)
- Nutritionist (RD, healthy diet and nutrition)
- Occupational therapist (OT; enable people to engage in activities of daily living that have personal meaning and value)
- Orthopedist (bone and joint care)
- Palliative Care Team (team focusing on quality of life across the lifespan)
- Physiatrist (Physical Medicine & Rehabilitation physician; care related to skeletal muscles, positioning, strength, function, range of motion, etc.; work with PT)
- Physical therapy (PT; assist with strength, range of motion, positioning, etc. of skeletal muscles; work with MP&R provider)
- Pulmonologist (lung care)
- Speech/language therapist (speech, communication, swallowing)
- Social worker (provide information regarding resources to help with education, quality of life, financial, and other assistance, etc.)
Primary Care Provider (PCP)
Everyone needs a primary care provider (PCP). This is a pediatrician, family practice provider, nurse practitioner, or internist who will serve as your “medical home.” This person will care for your annual, age/developmentally appropriate healthcare needs, as well as help you to manage minor illnesses or injuries.
After the diagnosis of Duchenne is confirmed by a neuromuscular specialist (NMS), information and resources should be sent to your PCP about Duchenne. An ongoing medical relationship with the PCP will provide a continued, much-needed source of stability and support.
Your PCP will be your first-line care for acute and chronic medical issues, managing routine childhood illnesses and collaborating with your neuromuscular team for issues that may be related to, or made worse by, Duchenne or medications taken to manage the symptoms of Duchenne.
Throughout your life, you will need routine age-appropriate, well-person care. During childhood, this will include an evaluation of developmental milestones, childhood vaccinations, annual hearing and vision screening, and an annual evaluation of overall physical and mental health. During adolescence, your PCP should add adolescent screening including an evaluating of age appropriate risk factors (reproductive health, drug use and abuse (including alcohol and tobacco), and mental health. As you transition to adulthood, your PCP will be instrumental in giving you opportunities to see them alone and to begin to manage your own care. As an adult, PCP’s continue to provide annual evaluations of overall health, also adding in a review of risk factors that may impact cardiovascular health (such as risk factors for high blood pressure or high cholesterol levels).
As a person living with Duchenne, maintaining a relationship with a PCP is vitally important. Your PCP is your “medical home” and, as such, will organize all of the care and surveillance of your well child and sick child care, and will communicate/collaborate with your neuromuscular team.
Your care coordinator is the center of your neuromuscular team. This person will work with the neuromuscular specialist (NMS) and all of the members of your neuromuscular (NM) team to coordinate your care. Your care coordinator will also provide communication between all members of the NM team and between you NM team and your PCP. They will also serve as your point person for questions and/or concerns between visits. The care coordinator is the glue that holds your NM team together.
Your neuromuscular specialist (NMS) will be the leader of your neuromuscular team. The NMS will manage the musculoskeletal issues associated with Duchenne. Regular evaluations should include tests that help show how your strength and function, and if interventions are needed. If you choose to use steroids, the NMS will manage this medication and monitor side effects. Every person needs to see a NMS every 6-12 months from diagnosis.
A cardiologist is a heart specialist. The cardiologist should check your heart when the diagnosis of Duchenne is made. Every person needs to see a cardiologist every 6-12 months following diagnosis. Read more about heart care.
Every person should have a dentist visit every six months (by a traditional dentist). Tooth decay and plaque buildup may increase as jaw muscles get weaker. Other tooth symptoms of Duchenne include a widening of the jaw and spaces between the teeth. Talk to your dentist about ways to improve dental care, and what you can do to avoid potential health problems such as gum disease and infection. Read more about dental care.
Developmental-behavioral pediatricians manage the medical and psychosocial aspects of children and adolescents’ developmental and behavioral problems. Not everyone will need to see a developmental-behavioral pediatrician, but they should be available if needed. Read more about behavioral issues.
Endocrinology specialists manage concerns and problems related to hormones, including concerns hormones that regulate growth, puberty, and bone health. The use of steroids may lead to hormone and bone issues in people with Duchenne. Although the timing may be different for each person, most people living with Duchenne and taking steroids will need to see an endocrinologist at some point. Read more about hormone and bone issues.
Gastroenterologists specialize in issues related to the stomach and digestive system. Many people with Duchenne have gastrointestinal or GI issues, which may be worse when people are taking steroids. Read more about gastrointestinal issues.
Genitourinary (GU) is a different specialist that cares for the reproductive and urinary systems. Not everyone will need to see a GI or GU specialist, but they should be available if needed.
A genetic counselor can explain the cause[s] of muscular dystrophy, the typical symptoms, and how the disorder tends to progress. The genetic counselor can explain and order diagnostic genetic testing for your child and can help the mother and other female relatives obtain carrier testing. The genetic counselor also can help you to talk through your feelings and discuss family issues. Each family should see a genetic counselor within six months of diagnosis, and they should then be available as needed. PPMD’s Duchenne Registry is coordinated by several genetic counselors. If you have questions or concerns about your genetic testing or carrier testing, please contact The Duchenne Registry.
Neurocognitive specialists focus on neurocognitive evaluation and treatment, and can help families deal with challenging behaviors and possible delays in growth and development. Not every person will need to see a neurocognitive specialist, but they should be available if needed.
A registered dietitian (RD) specializes in calories, hydration, and nutrition. They will help you to evaluate your diet and exercise. They will help make sure that you are eating a healthy diet and receiving the right amounts of vitamin and nutrients. If you are taking steroids, they will pay special attention to your vitamin D and calcium levels and will help you to supplement those as needed. They will also monitor your weight to make sure it doesn’t go too high or too low. Every person living with Duchenne, especially those taking steroids, will need to spend time with a RD. Read more about nutrition.
Occupational Therapists (OT)
Occupational therapists (OT) help patients to find/develop ways to enable them to participate in the things they want and need to do. OTs may be helpful in helping people with Duchenne find and use adaptive equipment. Every person with Duchenne will need to see a OT, but the timing of these visits will be different. Read more about occupational therapy.
Orthopedists and orthopedic surgeons specialize in the diagnosis and treatment (including surgery, if needed) of problems of the musculoskeletal system. This includes bones, joints, ligaments, tendons, muscles, and nerves. Not every person will need to see an orthopedist or an orthopedic surgeon, but they should be available if needed. Read more about bone care.
Palliative Care Team
Palliative Care (PC) is a family-centered, patient-centered, approach to care that encompasses the physical, psychological, emotional, social, and spiritual components of you and your family’s needs, and focuses on overall quality of life. Ideally, PC is provided by an interdisciplinary team of healthcare providers (i.e., from medicine, nursing, psychiatry, psychology, social work, chaplaincy, child life, physical/occupational/speech therapy, art and music therapy, nutrition, pharmacy, and other specialty areas) who support individuals in achieving maximal quality of life, provide relief from pain and other symptoms, and assist patients and families with decision-making regarding goals of care. While sometimes confused with solely “end of life” care, the palliative care team helps individuals meet challenges at every stage of their illness journey and throughout transitions across their lifespan. The palliative care team can also be particularly helpful in having conversations around goals of care specific to emergency/ life-threatening situations, ensuring individuals that their preferences for care will be known and respected. Not every person will have access to a palliative care provider but, if you do, you should take advantage of their unique skills and resources. Read more about palliative care.
Physiatrist (Physical Medicine and Rehabilitation)
Physical Medicine and Rehabilitation (PM&R) specialists work to improve functional ability and quality of life for people with physical disabilities. They will work closely with the Occupational Therapist (OT) and Physical Therapist (PT) to make sure that the most helpful therapies and devices are available to you. Every person may not have access to PM&R but, if you do, they will be a vital part of your team. Learn more about Occupational Therapist (OT) and Physical Therapist (PT).
Physical therapist (PT)
Physical therapy (PT) will be an especially helpful provider from the time of diagnosis. Physical therapists supervise active exercise, passive stretching, hydro-based (water) therapy, as well as regularly monitoring the spine, musculoskeletal, and respiratory function. They will also monitor the strength, function, and range of motion of all of your muscles. Physical therapists play a major role in the prescription and provision of adaptive seating and equipment, and help school staff in a wide range of modifications. Every person living with Duchenne will need to see a PT every 4-6 months. Read more about physical therapy.
Psychologists and psychiatrists help to identify any mental health issues that may be presenting challenges, and will help you to work through and/or obtain treatment as needed. Neuropsychologist are psychologist who are have additional education in the areas of cognition and evaluating learning, cognition and behavior with an underlying neurologic diagnosis (for example, learning difficulties and Duchenne). Other providers also evaluate and treat mental health issues, including social workers, nurses, and family therapists. Duchenne is a difficult diagnosis to manage, and the entire family may face high levels of stress and anxiety. Individual, group and/or family therapy may be very useful. Paying attention to this area of life is vital, and should never be ignored. Read more about mental health.
A pulmonologist (or lung doctor) should should start seeing you from diagnosis, and evaluating breathing and coughing as early as possible. If you are walking, you should be seen by pulmonology at least once a year. When ambulation is lost, you should be seen at least once every 6 months. Every person with Duchenne should receive pulmonology care. Read more about lung care.
Speech/Language Pathologist (or therapists)
Speech-language pathologists (also called speech therapists) diagnose and treat communication and swallowing disorders, and help with assistive methods and devices as needed. Not every person living with Duchenne will need to see a speech therapist, but if there are speech delays or differences and/or swallowing issues, they should be available to help. Read more about speech delays and swallowing.
Social workers may help families adjust to a diagnosis of Duchenne, find needed services, or engage with school staff around modifications. They are invaluable in accessing local resources and in helping to navigate the complicated healthcare coverage pathway. Every person will need a social worker on their team. Visit PPMD’s Community Resource pages for help identifying social workers in your state.
Surgery and Anesthesia
People with Duchenne may need surgery for issues related to, or not related to Duchenne. It is important that you work with an anesthesiologist who is familiar with the unique anesthesia needs of people living with Duchenne. Read important information about safer anesthesia during surgery.