Duchenne affects every person differently, even between siblings. Due to the nature of the disorder, Duchenne is talked about in phases – from diagnosis through to adulthood. With each new phase of Duchenne comes unique challenges for you and your child, but the more you know, the more readily able you will be to tackle whatever comes your way.
Below, we look at some of the experiences common with the four stages of Duchenne. We hope that by understanding how each phase of Duchenne may affect your family, you can start to anticipate your needs and find comfort knowing there are supports available to ease your child’s transition through each of the stages. By being proactive, you can plan ahead for the expected and be ready for the unexpected. Go at your own pace, you do not need to be the expert in everything Duchenne. Your neuromuscular team and Defeat Duchenne Canada are here to help guide your way.
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A diagnosis of Duchenne may occur by chance if your child is receiving medical attention for another reason and an elevated Creatine Kinase (CK) is found. Or, it may be uncovered if there is a family history of Duchenne. If either of these incidents are what lead to the diagnosis, your child may not be experiencing any symptoms of Duchenne or you may only be starting to notice subtle signs such as a delay in age-appropriate milestones like turning over, crawling or walking.
Regardless of how obvious the symptoms are, it is important that you connect with your care team for your child’s full medical exam. Seeking out education and support is also critical at this stage, but try to limit time looking online at unverified sources. Only seek out information from reputable sites, go at your own pace and take time to digest what you are reading. Set up your support team and continue to nurture those close relationships. These individuals will be important for you and your family as you navigate your journey with Duchenne.
The average age of diagnosis for Duchenne muscular dystrophy is around four years old. Prior to this stage, a child may exhibit very few symptoms, and without any family history they may go unnoticed by their parents. However, there may come a time when parents start to realize their child is having difficulty keeping up with their peers, in terms of mobility and other developmental milestones.
Click here to learn more about the signs and symptoms of Duchenne.
Leading up to their diagnosis, children with Duchenne may show signs of delay in age-appropriate milestones. However, they may catch up before the delays become a significant concern, which is why a diagnosis often takes a few years. Knowing that delays can be the symptom of something more serious than a child’s unique pace of development means it’s important to seek testing whenever you have the gut feeling something may not be quite right. That way, you can get an accurate diagnosis as soon as possible and connect with your care team who will start your child’s care plan and provide your family with the supports you will need.
Click here to learn more about how Duchenne is diagnosed.
Once your child has received their Duchenne diagnosis, you will likely both undergo genetic counselling, meet with your multidisciplinary care team for initial assessments and possibly begin interventions if needed. Your neuromuscular team will talk to you about important medical safety information, such as Rhabdomyolysis (myoglobinuria), stress dosing if you are taking steroids and fat embolism syndrome. Make sure you ask questions and understand what these are and what to do if you suspect any of these. Your clinic should provide you with handouts to take home. There are also many great resources to access online provided below. They will also recommend your child obtains a medical alert bracelet with the following information:
Click here to learn more about steroid emergency care procedures.
This time can be very overwhelming for families, so it might help to bring someone with you to all your appointments to take notes and help you carry the load of the information. Be kind to yourself and understand you may have a lot of big feelings to cope with, and that is totally normal. This is a great time to connect with other families and patient organizations like Defeat Duchenne Canada, Parent Project Muscular Dystrophy (PPMD), and Muscular Dystrophy Canada (MDC). They all have excellent resources to help guide you through your journey and help you communicate your diagnosis with family, friends and school.
Click here to learn more about the diagnosis and management of Duchenne muscular dystrophy.
Click here to more about navigating elementary school and classroom resources.
Childhood is a time of rapid physical, cognitive and emotional growth. This is the stage when you may start to notice your child is having difficulty keeping up with their peers in some activities. They may tire easily, have difficulty jumping and fall frequently due to poor balance. While they will want to be busy and “keep up”, your child’s safety is paramount, and your neuromuscular team will give you the advice and support you will need to keep your child safe.
During this time, you may also notice some muscle weakness, which presents itself in the way your child walks or moves. They may start to develop a waddle (swinging of the hips) and use the Gower’s Maneuver to stand up from a lying or seated position. This maneuver refers to when a child moves their hands up their legs for support when standing. For some Duchenne patients, this is also when their calf muscles become increasingly enlarged. The term for this common Duchenne phenomenon is pseudohypertrophy.
At this stage, it will be important for your child to be evaluated by your rehabilitation team. These specialists will talk to you about the activities that are safe for your child to partake in. Additionally, they will advise you on strategies to help your child find a balance between exercise and energy conservation. Stretching is important at all ages to help maintain function and prevent contractures, which is the shortening of the muscles and tendons that restricts movement. The earlier you introduce this into your weekly routine, the easier it will be to maintain as time progresses. PPMD has some great stretching videos and resources go to: Physical Therapy Series Archives – Parent Project Muscular Dystrophy (parentprojectmd.org).
If your child has started treating their Duchenne symptoms with steroids, nutrition management will be important as well as supplementation with vitamin D and calcium. Your care team will talk to you about any precautions you will need to take while on steroids. Remember to follow your doctor’s instructions and never stop taking medication without their explicit advice.
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Late Childhood/Adolescence/Young Adult/Late Ambulatory
During the late ambulatory stage, your child may be experiencing a great deal of fatigue when walking long distances or engaging in physical activities such as climbing the stairs. This may be the point in time when your family begins to think about the use of a scooter or manual or electric wheelchair. Prior to that, you may notice their balance continues to become a challenge alongside their gate (the way they walk), as their body struggles to overcompensate for muscle weakness. As your young adult requires more support to get around, it will be very important to educate all those involved in their care at school and those they may interact with throughout the community.
Click here to learn more about navigating school in late adolescence and adulthood.
At this stage, there is a very high likelihood your child has already been using steroids for an extended period of time, so it’s important to look out for the associated side effects and seek care if necessary. Weight management and nutrition will continue to be very important for steroid users. Please visit the steroid resources posted above and familiarize yourself with the emergency care procedures.
During early adolescence, your child should be monitored regularly for bone health, delay in puberty, lung and heart function. Teenagers should be encouraged to start to take an active role in the management of their own care in preparation for transition to adult care.
Learn more about the transition to adult care by watching our webinar below.
Adolescence/Young Adult/Early Non-Ambulatory
When your child reaches this stage, they will be dealing with all the normal ups and downs of adolescence, while also navigating the added complexities of Duchenne. You will find yourself searching for that balance between teenage independence and ensuring your child is safely navigating their environment. Additionally, your teenager will need to know how to effectively use whichever equipment is supporting their mobility. At times, this can be emotionally and financially difficult for the entire family. Please know, we are here to support you through this new territory and can connect you with other families or resources to help your transition be a positive experience for everyone.
If your son is no longer walking independently, you will want to be mindful of scoliosis and this is something you care team will be monitoring more closely. Muscle and joint support will remain paramount throughout this stage, and your child’s physical therapist, respiratory and cardiac specialists will play a pivotal role in their ongoing care and treatment. Your care team will work with you to develop strategies to help with energy conservation and to encourage the maintenance of muscle function.
Your teenager will be continuing their steroid treatment and will need to be monitored for osteoporosis as well as delayed growth and hormonal disruptions that affect puberty. These are unfortunate side effects of long-term use of steroids, but your care team will help you manage them. Your son will be referred to an endocrinologist to have these aspects of his care monitored and, if necessary, treated.
If you have not already, now is the time to work with your care team to start the transition to adult care. The earlier you start this process, the more prepared you will be for the differences between adult and paediatric care. It is never too early to encourage your son to take on more responsibility for his own care.
Click here to download the transition toolkit.
Click here to download the transition checklist.
A comprehensive care team can help you stay healthy, independent and as active as you hope to be in adulthood. Participation in the community, social life and getting and keeping a job are important. Your adult care team can help support you in whatever interests you may want to pursue. Continued monitoring of your heart, lungs, bone health, digestive systems and mental health will be managed by your new adult specialists. This will take coordination on your part, and you will need to take control of the management of your own care. There will be some adjustments as you develop relationships with your new care teams. However, there are many resources and patient organizations out there to support you to remain positive and live fully.