The management of Duchenne muscular dystrophy requires a coordinated effort from a multidisciplinary care team with expertise in Duchenne. The goal of supporting your child’s best-possible quality of life requires careful planning and follow-up from many different medical disciplines.
The most important step in your Duchenne journey will be receiving an accurate diagnosis. Once you have a confirmed diagnosis, your primary care provider will be able to refer you to the appropriate specialists. Your new care team will be responsible for managing your child’s neuromuscular, physical, psychological and developmental needs. Even after these referrals are made, your primary care provider will remain part of your care team for non-Duchenne-related health concerns.
Below we explore the individuals who make up your Duchenne care team:
Your primary care provider is likely the person who referred you to a neurologist or neuromuscular specialist for your diagnosis of Duchenne. This individual, although not directly involved in the management of Duchenne, will still be your go-to practitioner for any non-Duchenne related medical issues or vaccinations. They can also be a great resource for mental health support.
It is very important that your primary care provider is kept in the loop regarding your child’s progress, as it relates to their Duchenne-specific symptoms and experiences, including their medications, procedures and the test results you receive from your Duchenne care team. It is always a good idea to ensure this physician is copied in on any reports or procedures your son might receive from his neuromuscular team and all his specialists. This is especially true because they may become your child’s lead care provider when they transition to adult care.
Once a diagnosis is made, your paediatric neuromuscular specialist will serve as the lead clinician who will take on the overarching responsibility for your Duchenne care. They will manage and guide you through all the required testing and refer you to the appropriate specialists as needed. If you/your child decide to start steroids, your neuromuscular specialist will manage this medication and monitor the side effects. They, along with their team, will serve as a great source of information.
Click here to learn more about the different phases of Duchenne and important emergency care procedures.
A physiotherapist is an important part of your care team and will help your child maintain as much of their muscle function as possible. Your physical therapist will monitor the strength, function and range of motion of all your muscles. They will guide you on appropriate stretching, exercise and contracture prevention (splints, stretches). They will also guide you on different strategies for energy conservation so your child can maintain a safe and healthy lifestyle. Your PT will work closely with your occupational therapist on any assistive mobility devices (i.e. strollers, scooters, wheelchairs) you may require to support your growing needs. Your PT will become a great resource to you – for home and school support and consultation on any modifications needed within these areas.
Your occupational therapist is there to help you with activities relating to self-care, participation in school and work as well as activities for fun. They are there to enable your involvement in all the activities you enjoy and suggest modifications or changes to your environment to ensure you remain safe and healthy. OTs will help you to get the mobility devices you require and advise you on any modifications you may need to make to your home, vehicle, school or workplace. They can provide suggestions to help improve your strength and mobility and will address your changing needs.
A physiatrist is a physician who specializes in rehabilitation medicine. They can specialize in paediatrics, adult care or both. Their goal is to improve functional abilities and quality of life for individuals with physical disabilities. They work closely with the physiotherapist and occupational therapist to ensure you have the most helpful therapies and devices available to you. Not everyone has access to a physiatrist. However, in some cases. The physiatrist will become your point person for all your care in adulthood.
Receiving a diagnosis of Duchenne muscular dystrophy can be emotionally overwhelming. Oftentimes, families not only have to cope with the physical limitations of Duchenne, but they find themselves dealing with the financial and psychological ramifications of a complex life-limiting disorder.
A social worker can help connect you with the resources you need to provide the best-possible care for your family and your child. From helping you access economic relief through to legal and emotional support, they are a key component of your Duchenne care team.
If you have arrived at a diagnosis of Duchenne muscular dystrophy, it’s very likely you have participated in genetic testing. A genetic counsellor can help you understand the results you’ve received and the impact they may have on your immediate and extended family. A genetic counsellor can discuss a wide range of issues with you, from family history through to family planning. They will also be able to advise you if any of the results from either your or your child’s testing may influence modes of treatment.
The heart is a muscle, so it is also affected by Duchenne. Your cardiologist is an important part of your care team, as they will monitor your heart function and will prescribe treatment when needed. The new standards of care recommend starting cardiac medicines early or by age 10, even if all your heart function tests are normal.
Angiotensin converting enzyme (ACE) inhibitors are considered as the first line of therapy, as they open up the blood vessels leading out of your heart. This means, your heart doesn’t need to squeeze as hard to pump blood throughout the body. Other medicines, like beta-blockers, might be used to help slow down the heart rate, which can often be higher than normal.
As part of your regular work-up with your cardiologist, you will need to have an ECG (electrodes attached to your body to test your heart’s electrical activity), an ECHO (ultrasound of your heart) and, in some cases, a Cardiac MRI (a large magnetic tube that takes detailed images of your heart).
Duchenne can affect the muscles that help you breathe. The respirologist is an important part of your team, they will monitor your lung function and recommend interventions or treatment if needed. Lung volume recruitment or breath stacking is something your respirologist might ask you to start doing at home. This is to help keep your lungs healthy by keeping them flexible, expanded and able to hold as much air as possible. At some point, you may also need cough assist if you develop a weakened cough. This device will help you expel mucus, especially when you become sick with a cold or flu. You may be required to complete regular sleep studies to monitor how well you breathe when asleep. If your oxygen levels are found to be too low, you may require a bi-level positive airway pressure or BI-PAP machine at nighttime. As you get older, you may also require help with breathing during the day.
Steroid treatment is an important part of the management of Duchenne as it prolongs walking and quality of life. However, there are some unfortunate effects from taking steroids for a long time. They may include delayed growth and puberty, excessive weight gain and osteoporosis. Your endocrinologist will monitor these aspects of your care and recommend interventions to help manage some of these.
Orthopaedic problems refer to disorders that affect the musculoskeletal system. Therefore, orthopaedic specialists are an important part of your Duchenne care team. As the disorder tends to lead to contractures (joints issues), scoliosis and long bone fractures, this member of your care team will be able to make recommendations and refer you to an orthopaedic surgeon to correct any issues that deem surgical intervention necessary.
In some individuals, Duchenne can have an impact on learning and behaviour. If you suspect your son is having difficulties, it is important to have them assessed by a neuropsychologist or psychologist as soon as you can. Identifying the problem will bring you that much closer to building strategies to help your son and may alleviate frustrations at school and home.
Do not be afraid to pursue this if you feel your son may be impacted. Not all clinics have access to this specialty, and you may need to advocate for the mental health and psychosocial supports they need. There are many families who have struggled with this aspect of care and connecting with other Duchenne families is often a great way to learn more about the best ways to tackle potential barriers to your child’s holistic care.
Living with Duchenne is a complex emotional roller coaster, so psychosocial and emotional support is critical for both the person living with Duchenne and all members of their family. Even if you don’t think you need this support right away, it is important to build your safety net. If you find you have already built healthy strategies to help you through unexpected tough times, you will have an easier time getting through them. Joining family meet-ups through Defeat Duchenne Canada or through your local clinic is a great way to connect and feel supported.
A gastroenterologist is responsible for managing all matters related to your digestive tract. Weight management might be a symptom of ongoing steroid use, but it’s also not uncommon for people with Duchenne to deal with chronic constipation and difficulty swallowing. You may be referred to a gastroenterologist should any of these aspects of care become a concern.
A nutritionist or dietitian is an important part of care, especially for individuals taking steroids. Weight management can be a big concern for many families who have a son with Duchenne, and weight gain caused by steroid use can be a big stressor. The best strategy is a preventative one, so developing healthy habits from the start can be beneficial for the whole family.
If you are fortunate enough to have access to a dietitian, nutritionist or nurse in your clinic who specializes in healthy eating, they can help you build strategies to manage and prevent weight gain. Connecting with other Duchenne families is another way to learn new tips and tricks to help you navigate this issue.
Individuals with Duchenne may experience issues with speech and/or language development. A speech and language therapist can provide support in terms of evaluation and treatment, if necessary.
These services may not be available in all clinics. If you are able to access these specialists, they can work with your child or young adult to help them set goals, become advocates for their needs and find different ways to participate in sports and the community. They can help with transitions through school, career and independent living. If you are able to incorporate this fabulous resource into your care team, it would be a wonderful idea to share your helpful resources with other families by adding to our Helpful Resources page.