Every year on the 7th September, the global Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) community come together to mark World Duchenne Awareness Day (WDAD) and raise awareness of those living with DMD and BMD and their families. There are over 250,000 people worldwide living with Duchenne and Becker muscular dystrophy. BMD and DMD are rare genetic diseases defined by muscle weakness. People born with DMD and BMD need specialist care throughout their lives. This year’s WDAD theme is ‘Family: the Heart of Care’. The goal of this theme is to highlight the role of family members for people living with Duchenne and Becker muscular dystrophy. This year, the World Duchenne Organization launched a WDAD documentary, which follows families from different countries as they navigate life with Duchenne muscular dystrophy. You can watch the documentary here. PaLaDIn partners have been reflecting on the important role family members have in ensuring that those living with DMD and BMD are able to share what’s important to them about their condition in order to support better healthcare decision making.
In the context of DMD and BMD, family members, including parents, siblings, and other close relatives, play a central role not only in providing daily care but also in shaping how the experience of living with the condition is understood and measured. This is particularly important when using Patient-Reported Outcome Measures (PROMs). PROMs are tools or questionnaires used to collect information directly from patients about their symptoms, health status, and quality of life. These measures help evaluate how well treatments work and to help researchers, clinicians and healthcare decision makers understand how diseases affect patients’ daily lives. Whilst PROMs are designed to capture the patient’s own perspective on health, well-being, and treatment impact, in many cases family caregivers serve as proxies, offering essential insights on behalf of the patient, especially for younger children or those with communication challenges.
Importantly, siblings are also affected by the complex emotional and practical dynamics of life with Duchenne or Becker muscular dystrophy. While they are not always directly involved in clinical decision-making, their observations and experiences can enrich our understanding of the condition’s impact on the entire family system.
In addition to proxy-reporting, PROMs and other tools such as PREMs (Patient-Reported Experience Measures) can also be adapted to assess the burden experienced by caregivers themselves. Evaluating stress, emotional fatigue, and the long-term impact on mental health and quality of life is critical for developing truly supportive and family-centered care strategies. Including the family perspective in PROM development and use ensures that clinical outcomes reflect the realities of those most closely involved in care.
Questionnaires to collect PROMs will be built into the PaLaDIn data platform (The Interactium®) to allow patients and care givers to record their experience of living with a disease. This could include measures about symptoms, daily activities of life or even the psychological and social impacts of living with a NMD. PaLaDIn partners are also interested in capturing data that tells us more about the experiences of care givers, and how caring for an affected family member impacts on their lives. This is important as the “burden of care” can be used by governments and payors when decided on whether or not to reimburse approved medicines during the Health Technology Assessment (HTA) phase. Currently there is limited data for HTA bodies to use in NMD’s to inform these decisions, and PaLaDIn hopes to fill this gap. Greater focus on caregiver burden will ensure that health system decisions maximise overall health and align with societal goals, rather than just patient outcomes, and will recognise the physical, emotional, financial and social impact on care givers. To keep up-to-date with our progress and the development of the PaLaDIn Interactium® data platform, sign-up to our newsletter here.
