Health CommitteeWritten evidence from Action Duchenne (LTC 16)
1. Action Duchenne
1.1 Action Duchenne welcomes the opportunity to respond to this consultation on living with a long-term condition.
1.2 We are a patient and parent run charity which raises awareness, funds research and campaigns for best standards of care for Duchenne (DMD) and Becker Muscular Dystrophy (BMD) throughout the UK.
1.3 Action Duchenne also keeps a registry of patients for research trials, hosts an education transition project and holds learning programmes produced for the specific requirements of people living with DMD and BMD.
1.4 Action Duchenne participates in the APPG for Muscular Dystrophy, holds round table meetings throughout the UK and provides advocacy support and information for members.
1.5 Action Duchenne would appreciate the opportunity to present evidence in person to the select committee.
2. Duchenne and Becker Muscular Dystrophy
2.1 DMD and BMD are rare, pervasive and complex conditions which affect every aspect of people’s lives and require constant monitoring and specialist care.
2.2 DMD and BMD affect ~1:3,600 male births and ~1:18,500 male births respectively.
2.3 The rapidly progressive nature of DMD, symptomatic from the age of around 4 or 5, leads to children being wheelchair bound by their early teens and increasing loss of upper limb function from their early 20s. BMD has a similar effect to DMD, however the progression is much slower, becoming symptomatic from early teens to late twenties.
2.4 The average life expectancy of those with DMD is their mid-20s, for BMD it is 50–60.
3. Management of Duchenne and Becker Muscular Dystrophy and summary
3.1 Due to the rarity of DMD and BMD and the complexity of the conditions’ effects “the best management of DMD requires a multidisciplinary approach with the input of specialists in many different areas” (Lancet Neurology 2010). The holistic, integrated and specialist approach required for best quality care for DMD and BMD has been accredited by NICE and underpins our response to this consultation.
3.2 The Service Specification for Neuromuscular services highlights how “the care of all patients should be led from a regional specialist centre with specialist Multi Disciplinary Team (MDT) providing regular local clinics”.
3.3 With the “best practice” DMD and BMD care, people can live much longer and experience a much greater quality of life.
3.4 At the moment this is not happening.
3.5 In Denmark, 50% of those living with DMD are over 20 years old, whilst, only 15% of those living with DMD in the UK are over 21. The population of DMD patients in Denmark has nearly doubled since 1990.
3.6 With coming research breakthroughs and improving standards of care, a greater number of exciting and ambitious young people living with DMD will need multidisciplinary specialist care and support. This must be planned for.
CARE REQUIRED FOR DMD
Specific Issues for the Consultation
4. The scope for varying the current mix of service responsibilities so that more people are treated outside hospital and the consequences of such service re-design for costs and effectiveness
4.1 The rarity of DMD and BMD means that all tiers of healthcare provided for patients must be directed by neuromuscular specialists. Action Duchenne is concerned that moving services out of specialist centres would reduce expertise and lead to a reduction in high standards of the multi-faceted and complex care required.
4.2 A great deal of our members experience poorly integrated care from professionals who do not have a full understanding of the condition both at hospitals and in local provision.
4.3 Our survey website, DMDCentres.org and our Boys to Men Campaign outlined the massive drop off of services for adults living with DMD, especially in primary care such as physiotherapy, but also with cardiac and lung monitoring.
4.4 Professor Hanna’s recent report on unplanned admissions for Neuromuscular conditions found that 37% of them were avoidable and concluded by recommending that monitoring of known neuromuscular patients and coordination of care across sub-specialties would reduce such unnecessary stress on patients and their families, as well as reducing costs.
4.5 At the moment, care is failing families and patients due to lack of understanding and expertise. This is also costing the health service more money.
4.6 As set out in the Service Specification for Neuromuscular Services, patients should be reviewed by a multidisciplinary team (comprising of neuromuscular consultants, a neuromuscular physiotherapist, a neuromuscular nurse, an occupational therapist, a speech and language therapist, a dietician, a psychologist and a neuromuscular care coordinator) every six months, with some patients who have rapidly progressing neuromuscular conditions (like DMD) being reviewed every three months.
4.7 The multidisciplinary team must also act as a hub, to facilitate access to colleagues including respiratory physicians, cardiologists, clinical geneticists, orthopaedic surgeons, endocrinologists, gastroenterologists, palliative care clinicians, occupational therapists and orthotists. There must be a procedure with which feedback is given and processed to inform further care decisions. Indeed, if there are specific problems with a patient involving one of these specialists, that specialist should be involved in the multidisciplinary reviews. eg. The Standards of Care document states that from their early teens, people living with DMD should be seen at least twice a year for the monitoring of cardiac and lung function.
4.8 Multidisciplinary teams must ensure communication mechanisms exist between tiers 3, 2 and 1 so that local services such as physiotherapy, hydrotherapy, rehabilitation are well informed of patient’s requirements and the condition is monitored at a regular and local level.
4.9 A vital part of care from April 2013 for all those with DMD and BMD will be the assigned patient-held records, written and updated by the multidisciplinary team. Such records will act as a “passport” for proper care, allowing professionals who are not knowledgeable about the patients’ needs, to understand how to care for patients. Only with regular updates of these records will these be of use, and so Action Duchenne reiterates the need for regular MDT reviews of each patient.
4.10 Action Duchenne is concerned about the amount of care that will be commissioned by Clinical Commissioning Groups (CCGs) for rare conditions, and which care will be commissioned nationally by NHS England (NHSE) and the 10 Local Area Teams (LATs). If CCGs are not responsible for improving outcomes for people living with DMD and BMD, then CCGs may neglect important primary care services and the “postcode lottery syndrome” will prevail. It is also important to recognise that it is at primary level services such as physiotherapy where there are gaps. CCGs need direction from NHSE and LATs on provision of services for rare conditions.
5. The readiness of local NHS and social care services to treat patients with long-term conditions (including multiple conditions) within the community
5.1 People living with DMD and BMD often experience a lack of understanding of their conditions, which in turn leads to bad advice, a worsening of the condition and the “postcode lottery” syndrome of care.
5.2 From the recent Shire Report on Rare Disease Impact, (487 patients and 124 caregivers) 50% of patients with a rare disease and their caregivers stated they received conflicting information from different healthcare professionals about treatment options.
5.3 In the same study from Shire, 62% of patients and caregivers stated they needed to provide their healthcare professionals with information on their rare disease.
5.4 Diagnosis for DMD, on average, takes over a year from primary concerns being relayed to a GP. This highlights the GPs problematic lack of expertise in DMD and BMD.
5.5 A recent study by the Muscular Dystrophy Campaign (600 patients and families) has shown that only two out five patients with Muscular Dystrophy felt that their GP understood their condition sufficiently to refer to them to the appropriate specialists, and more than half felt their GP’s limited knowledge of their condition mean they were unable to plan local care adequately.
5.6 The report by Shire, found that physicians (50) had limited resources and information to properly diagnose and manage rare diseases: 62% of these physicians felt that there weren’t the opportunities to network with other physicians who treat rare diseases.
5.7 As stated, people with DMD are now living much longer, but the health service has not kept up. This has led to a dearth of services for the adult population and many “dropping off” during transition.
5.8 Psycho-social care is absolutely vital, with families affected by DMD or BMD being at a higher risk of breakup and depression. People living with these conditions must have the option of specialist psycho-social care (not just advice from Care Advisors as set out in the Service Specification). Such care is often not available locally.
5.9 Breakthroughs in research may lead to expensive medicines coming to market. Action Duchenne is seeking assurance that a “postcode lottery” for the funding of new drugs will not arise. Moreover, such drugs will have to administered and monitored by experts, therefore once again highlighting the need for regional expertise.
6. The practical assistance offered to commissioners to support the design of services which promote community-based care and provide for the integration of health and social care in the management of long-term conditions
6.1 Action Duchenne is concerned that at a local level, the voices of patients and families living with DMD or BMD may be drowned out when it comes to community based care.
6.2 The Service Specification will act as a blueprint for specialised services, but each community will face individual issues. MDTs should work with CCGs to provide information about the holistic specialised care required.
6.3 The Service Specification must also change to take into account treatments coming to market and react to changes in standards of care eg the best use of steroids.
6.4 Healthwatch will also play a vital role in feeding back to LATs and NHSE in highlighting gaps in services. It is important to encourage families and patients living with rare conditions to involve themselves in these organisations and for the proper time and resources to be allocated to feedback on these conditions.
7. The ability of NHS and social care providers to treat multi-morbidities and the patient as a person rather than focusing on individual conditions
7.1 8% of adults living with DMD in the UK live at home compared to 20% in Europe. People living with DMD must be given care and support to fulfil their potential and be able to live independently if they wish.
7.2 DMD affects all muscles, causing problems throughout the body. Therefore all treatment must be multidisciplinary, holistic and treat patients depending upon their individual experience of the condition’s progression.
7.3 The Specialist MDT will be able to respond to the progressive and complex nature of a patients’ individual needs from a broader and holistic understanding in a timely and proactive way only if the links to local education, health and social care services are sufficient.
7.4 Current Specialist MDTs are under a great deal of strain, and clinical time for patients is very low. Only with a sufficient number of specialised clinicians and nurses will people and families living with DMD be given the time and information they need.
8. Obesity as a contributory factor to conditions including diabetes, heart failure and coronary heart disease and how it might be addressed
8.1 Obesity is a problem in DMD due to the lack of exercise and steroid use.
8.2 A specialist dietician must be a part of a Specialist MDT.
8.3 This dietician must link with the rest of the MDT, local services and provide specialist information depending on the steroid use of the patient and the individual circumstances.
9. Current examples of effective integration of services across health, social care and other services which treat and manage long-term conditions
9.1 Centres of Excellence such as GOSH and Newcastle already link local services together in a “hub-and-spoke model”.
9.2 Often patients and families cannot get coordinated and integrated care locally without a hub or care advisor organising their care. Families often have to re-explain the condition again and again to numerous clinicians.
9.3 Neuromuscular Care Advisors lie at the heart of integrating services across health, social care and other services. They must tie together the multitude of services required when living with DMD.
9.4 Given that DMD is symptomatic at a young age and the speed of progression of the disease requires education, health and social care to work together around the patient, Action Duchenne feels that those living with DMD must have Care Plans which include all of these aspects and MDT’s must have strong links to local education, health and social care services.
10. The implications of an ageing population for the prevalence and type of long term conditions, together with evidence about the extent to which existing services will have the capacity to meet future demand
10.1 The Duchenne population in Denmark has almost doubled since 1990, the average age has risen from 14 to 24 and people with DMD are now living into their late 40s. The number of people living with DMD will increase as standards of care improve and treatments come to market.
10.2 Existing services, especially in terms of specialist centres, are already under strain. These existing services must be planned long term, with the MDT in each region being formally developed to cope with the increase in population.
10.3 As drugs for DMD are developed, access to trials and monitoring of their efficacy can only be done by specialist MDTs. Therefore, it is vital MDTs in each region are set up swiftly, as set out in the service specification, and trials are accessible no matter where in the UK the patients live.
11. The interaction between mental health conditions and long-term physical health conditions
11.1 There is a much higher prevalence of SEN in those living with DMD.
11.2 Families break ups and depression are also much more likely in families living with DMD. Adequate psycho-social care must be provided from diagnosis for the patient and family, with proper information and follow up.
11.3 Given the severity of the condition, the burden on families of organising adequate housing, transport and funding for appropriate carers on families is very large. Families must be supported and the progressive nature of the disease must be understood and planned for. Long term decisions must be made, with the families given a clear plan to lessen the possibility of depression and family issues.
11.4 Patient counselling should be available throughout school and into later life. Problems like bullying, depression and insular behaviour occurs in patients, whilst families and teachers often misinterpret the condition, leading to a lack of aspiration for the patient.
11.5 Action Duchenne anticipates that the new Education, Health and Care plans will be wanted by all parents. Inconsistencies in providing them could lead to anxiety among parents and representation will be needed for assessments.
Recommendations
1. The Service Specification must be adhered to in every region, with specialist MDTs in place as soon as possible.
2. MDTs must link with regional care providers, leading and linking up care.
3. MDTs must also be linked, via the care coordinator, with the education and psychosocial care of the patient and their family.
4. MDTs must be provided with long term funding and plans to ensure continuity.
5. The distinction between specialised care (commissioned nationally and led by LATs) and primary care (commissioned by CCGs) must be formalised to ensure the postcode lottery syndrome does not continue.
6. There must be a specific focus on ensuring the voices of patients and families living with rare diseases are heard at a local level through Healthwatch.
8 May 2013
References
“The Diagnosis and Management of Duchenne Muscular Dystrophy”, Bushby K, et al, Lancet, 2010
“Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy”, Rare Disease UK, 2011
“Treating and Caring for Duchenne Muscular Dystrophy”, Action Duchenne, 2011
“Becoming an adult: transition for young men with Duchenne Muscular Dystrophy”, Abbott and Carpenter, 2010
“Patient Report 2013”, Musculary Dystrophy Campaign, 2013
“Rare Disease Impact Report”, Shire, 2013