We don’t know a lot about adults living with Duchenne: their natural history, cardiac progression on and off steroids, on an off cardiac medications, the effects of other medications and/or supplements, endocrine issues, gastrointestinal issues, urologic issues, gaining and maintaining independence……..the list could go on and on. Who would have dreamed that one day we would need to have a workshop on how to care for adults living with Duchenne?! What a wonderful problem to have! But for the hundreds of men and women living with Duchenne, these issues do indeed cause problems.
The ENMC (European Neuromuscular Center) is “an international platform organization supporting research for neuromuscular disorders and strives to facilitate communication amongst scientists and clinicians working in the area of neuromuscular disease (DMD Pathfinders).” Organizations submit topics for discussion for all neuromuscular diseases, then experts are invited, the workshop is held, everyone participates and, at the end, a workshop report is published. This is the second conference that I have attended organized by this group. The topics are generally timely; they are always well organized and planned with representation of the entire community in mind.
About 30 experts from Europe and North America, including 2 young men living with Duchenne, gathered May 23-25 in Narden, Netherlands, to discuss issues of importance in the care of adults with Duchenne. Every person in the room was engaged and interested; everyone was involved in the discussion. The energy in the room was palpable. It was a fabulous meeting that resulted in some very productive outcomes.
The following summary was written by one of these young men, John Hastie, who has organized “DMD Pathfinders,” a “user-led charity (reg. no. 1155884) which promotes choice and control and quality of life for teenagers and adults with Duchenne Muscular Dystrophy in the UK.”
206th European Neuromuscular Centre (ENMC) Conference – Lay Summary
Care for a novel group of patients: Adults with DMD. Scope of the problem and need for care recommendations
May 23 - 25, 2014
Workshop organisers: Dr. J. Rahbek (Denmark), Dr. B. Steffensen (Denmark), Dr. I. de Groot (The Netherlands), Prof. K. Bushby (United Kingdom)
Due to recent improvements in the treatment of late-stage Duchenne in the last few decades, many children with Duchenne are now living long into adulthood with the condition. This has led to a current "unforeseen generation" of adults living with Duchenne who are now in their 20s, 30s and 40s. This workshop provided a platform for experts in adult Duchenne care from across Europe and North America to share best practice and work together to update the existing consensus care considerations to include this novel group of patients.
The workshop heard from clinical experts on the issues faced by adults with Duchenne in areas of cardiac and respiratory management, nutrition and gastro-intestinal problems, as well as issues of pain and fatigue, bone health, upper body function, emotional and psychological health. The workshop also heard from organisations representing parents and adults - the Dutch Duchenne Parent Project, Parent Project Muscular Dystrophy and DMD Pathfinders, including two expert patients living with Duchenne who shared personal and peer experiences. This patient voice played an integral part in identifying gaps in existing care and helping to shape the care considerations update.
It was noted that the efficiency of the healthcare systems in different countries in supporting adults with DMD are dependent on existing structures and/or specific persons and the extent to which these enable coordination and interdisciplinarity. This indicated that the quality of adult Duchenne care could sometimes be quite fragile and should be supported by succession planning, monitoring and review.
Some of the issues identified which will form the basis of updated care considerations include:
- The importance of seeing Duchenne as a childhood onset chronic disease with patients treated as such, including the consideration of interventions such as cardiac devices and transplant where appropriate
- The need for continued emphasis on meeting existing best-practice standards in cardiac and respiratory care, as well as the importance of access for each adult patient to a neuromuscular centre to allow co-ordination of care
- The importance of healthcare pathways to define care in an emergency, which should include details of advanced directives agreed by the patient and a contact point with specialist neuromuscular centres available at any time. It was felt that emergency/advanced healthcare pathways was a more useful approach than references to “end of life” care.
- The value of extending steroid treatment for current steroid patients into adulthood
- The need for a holistic, patient-centered approach to care which emphasises the strong interplay between cardiac, respiratory and nutritional care
- The importance of ongoing monitoring and a stepped approach to tackling under-nutrition in adulthood. This should include monitoring and treatment of dental problems which can exacerbate nutritional issues.
- The importance of access to specialist physiotherapy and equipment for adults with Duchenne to address issues of pain, contractures, sitting balance and the maintenance of arm and hand function
Issues were also raised by patient groups regarding the need to place Duchenne care in a social context which responds to the significant differences between childhood and adult life, rather than simply extending pediatric care roles. This recognises the fact that adults with Duchenne are living increasingly diverse lives but typically identify with a perspective of non-difference, wishing to be treated in line with their non-disabled adult peers. It was agreed that:
- Care for adults with Duchenne must ensure access to support is available around issues of everyday adult life, including: social inclusion and independent living, education and career development, sexual health and care, peer and romantic relationships, enhancing self-identity and self-esteem, and risk-taking behaviours.
- It is critical to understand that the medical/healthcare system, the family, and the adult with DMD, are three different groups with often different values and interests. It is important the care is led by the adult’s wishes however sensitivity is required to support all parties through the transition to adulthood and beyond. This is best supported by transition preparation, education and emotional support which starts at diagnosis and continues throughout the patients’ life.
- When a multifaceted health care plan is being issued and coordinated, it is very important that there is a key person that speaks on behalf of the adult with DMD and their needs and interests – if the adult is unable to do so.
It was also identified that there are many issues where data on issues of adult care is lacking. It was recognised that in these areas it is important for clinical experts to be clear about uncertainty concerning benefits and side effects, or lack of knowledge in an area – including the question of life expectancy. It was agreed that further research is needed:
- To identify the potential of e-health, remote care and outreach to address the challenges faced by this population in travelling to specialist centres
- To develop a full, evidence-based natural history profile of Duchenne in adulthood. A small group will be set up to develop a protocol for investigation for a natural history study to include an in depth medical review and seek funding for this
- To increase understanding of gastro-intestinal and endocrine problems experienced in adults with DMD
- To support the extension of existing therapies or new therapies currently in development into adult age by testing them in an older population
The workshop also identified considerable potential for further follow-up work in regards to care for this group of patients beyond these research needs. It was recognised as critical that this builds on existing engagement with patients to increase registry participation, peer support and advocacy provision - especially when it comes to difficult transitional periods. Engagement with regulators and commissioners across Europe and North America is also needed in order to respond comprehensively to the needs of this growing patient population.