Early Non-Ambulatory (childhood/adolescent/young adult)
In the early non-ambulatory phase, you may begin getting tired after walking long distances. When this happens, a mobility scooter or wheelchair may be helpful for assistance with mobility.
PSYCHOSOCIAL, LEARNING, AND BEHAVIOUR:
Conversations about “transitioning” from an adolescent to an adult should begin at least by age 13 or 14. While your paediatric and adult medical teams, care advisors/coordinators, social worker, school professionals, and others will help you plan for a smooth transition, one or two individuals on your neuromuscular team should help guide the development of your personal transition plan. Conversations about your future goals should include education goals, as well as where you would like to live, study, work, and receive medical care. As you become an adult, it is important to maintain independence so you can continue to enjoy activities at home, at school, and with your friends. It is important for you to stay connected to friends – forming and maintaining relationships at this stage is very important. While some people living with Duchenne have no psychosocial issues, some do. Screening for anxiety and depression should happen at each neuromuscular visit. If anxiety or depression is identified, it should be treated early and appropriately.
In addition to the current home stretching program, attention to tightness in your upper limbs (shoulders, elbows, wrist, and fingers) becomes very important, as does the need for (supported, if needed) standing. Spinal curvature (scoliosis) is seen much less often with the use of steroids, but monitoring for this is still very important following the loss of ambulation. In some cases, scoliosis may progress quite rapidly, often over a period of months. Orthopedic input may also be needed to deal with issues of foot positioning, which can cause pain or discomfort and limit the choice of footwear. Surgical options to assist with ankle and foot joint tightness, if appropriate, may be discussed.
Maintenance of steroid treatment continues to be an important part of management in this phase whether started previously, continued into this phase or started at this stage.
BONE HEALTH AND HORMONES:
Close surveillance of bone health should continue, with special attention on signs for spinal compression fractures. Ongoing observation of height, lengths and weight is important to monitor growth. Alternate height measurements from the forearm (“ulnar length”), lower leg (“tibial length”), and the lengths of your upper and lower arms together (“segmental arm length”) will be tracked when standing becomes difficult. Starting around age 9, it is important to monitor puberty. If puberty has not started by age 14, you should be referred to an endocrinologist. If your testosterone level is low, testosterone therapy may be needed.
HEART AND BREATHING MUSCLES:
Monitoring of cardiac function at least anually is still essential and any changes in function, or evidence of fibrosis (scarring) in the cardiac muscle (seen only by cardiac MRI), should be treated promptly. Respiratory function should be monitored every 6 months through pulmonary function testing. If respiratory function begins to decline, interventions to help with breathing and to aid with coughing should be discussed and introduced when appropriate.
The palliative care team includes medical providers who are focused on helping you achieve your highest quality of life, providing relief from pain and discomfort, and helping ensure that your life goals match your treatment choices. While palliative care is sometimes confused with “end of life” care, the palliative care team will help you to meet challenges at every stage of your diagnosis, and be a supportive resource for you and your family with many types of transitions across your lifespan.
All people, with or without Duchenne, need to make decisions around emergency care – what they would like done to their body in an emergency, what they might not want done, who will be their medical power of attorney to make medical decisions if they cannot. The palliative care team is especially helpful in making your emergency care plan and deciding what it should include and where it should be kept.