Patient care & support

Meeting report: Improving access to the Standards of Care: roundtable discussion hosted by the Mayor of Greater Manchester - Andy Burnham, Joining Jack & Duchenne UK

On the 5th March 2020, the Mayor of Greater Manchester - Andy Burnham, Joining Jack & Duchenne UK held a roundtable discussion about "Improving access to the Standards of Care" We brought together doctors from nearby hospitals and Duchenne patient advocates to discuss how we can work together to help everyone in the Duchenne community with access to the Standards of Care.
Thank you to everyone who attended and spoke at the meeting. Below is a summary report of the meeting. We are now working on the next steps and plan to launch a project to look at implementation of the Standards of Care. Dr Michela Guglieri, Honorary Consultant at the John Walton Muscular Dystrophy Centre in Newcastle, said:

This is a really important initiative. Promoting expert-agreed Standards of Care and creating consistency across the UK is something we all need to be working on together, to ensure patients can access the best care and treatment, no matter where they live. We are really pleased to have Andy Burnham's support to help us drive this forward.

Executive Summary

Over the past decades, care for people living with Duchenne muscular dystrophy (DMD) has vastly improved and has resulted in better quality of life, and longer life expectancy. Although there is not yet a cure, there are accepted, recommended treatments and therapies that can help people with DMD live longer, healthier lives. These recommended treatments and therapies are known as Standards of Care (SoC). In 2018 new global guidelines on what the best SoC should be, were published in the prestigious medical journal, Lancet Neurology. Working together with other patient organisations, Duchenne UK was involved in the translation of this guidance into more accessible ‘family guides’. However, rather than providing clarity and certainty surrounding treatments and care considerations, these SoC have created uncertainty and anxiety among many patients about some aspects of their care. Duchenne UK received many calls from worried parents who had seen some of the recommendations and realised that their neuromuscular clinics were not providing this recommended SoC in its entirety and some were doing less than others. In order to understand this and discuss a pathway forward, Alex Johnson requested a meeting with Andy Burnham, Mayor of Greater Manchester, (where the Greater Manchester Health and Social Care Partnership has control of health and care spending). He has previously worked with Alex & Andy Johnson, founders of Joining Jack. A meeting was convened to discuss how different groups in the DMD community – clinicians and patients – can work together to help reach a consensus on a harmonised Standard of Care for the UK and to ensure access to this throughout the North Star network. This meeting brought together doctors from nearby hospitals and patient advocates to discuss current experiences of care delivery and to highlight concerns. Both families and clinicians talked about challenges faced in providing consistent care across sites and the limitations of the latest international advice. Alex Johnson and Cathy Turner presented an outline plan for a collaborative project that aims to address this by reaching consensus and then implementing UK-wide care standards based on the guidelines published in The Lancet in 2018. They discussed ways to move this forward with the support of clinicians and the help of Andy Burnham. In response, Andy Burnham thanked everyone for their contributions. He felt that the lack of equitable access to care in DMD was a serious issue that he was keen to help address. It was agreed that it was important to identify whether the current problems in meeting the standards were:
  • Lack of resource
  • Lack of evidence
  • Lack of organisation
  • Lack of a UK context
  • A combination of these
The meeting agreed that the next steps should be:
  • convene the working groups suggested in the project presented by Cathy Turner, Dr Michela Guglieri and Alex Johnson to start to answer some of these questions and to work together within specialisms to reach consensus on UK-specific SoC
  • consult widely in order to hear the opinions of all key stakeholders – including specialist clinicians across the North Star network who are delivering DMD care
  • work with Andy on arranging a meeting with NHS England to discuss what is needed to support the adoption and implementation of any UK-guidelines, including working towards NICE approval
It is important to bear in mind that, if we can implement agreed, evidence-based, consistent care across the UK for a highly complex condition like DMD – removing the ‘postcode lottery’ – the benefits would have impact on other conditions too. Clinicians argue that, if we get it right for DMD, we can get it right for everyone. The meeting concluded that, by working on this together and through wide collaboration, we can achieve this.   More detail is given below 

Background so far

Following the publication of new guidelines by American experts in the Lancet Neurology in 2018, TREAT-NMD, Duchenne UK, MDUK, Action Duchenne and DMD Pathfinders worked together to develop a UK Family Guide to disseminate and make more accessible, these new updates to the DMD community. However, the updated guidelines have actually caused considerable frustration and anxiety within the community for those who have taken time familiarise themselves. It has become clear that care is being managed very differently at centres across the UK. Some patients have realised through reading the guide that whole areas of their care are not being monitored or delivered according to the 2018 SoC, and they fear that this may lead to catastrophic consequences. Differences in how care is being managed across the country is now creating significant feelings of inequality and a sense amongst parents and patients that they are not getting the best care or access to treatments for their children or for themselves. It is creating a sense of haves and have-nots. In part, these issues begin with the nature of the SoC. The first were published in the Lancet in 2010. These are acknowledged as a minimum care standard worldwide for DMD patients. However, even these have not been fully implemented across North Star sites. The 2010 SoC recommendations were then updated in 2018. This was led by US clinicians and developed as the highest standards of care currently understood. This means that work is now needed to reach a consensus across sites in order to translate the 2018 SoC into UK/EU guidelines. This is being undertaken through a project proposed by Duchenne UK in collaboration with North Star clinicians which will establish working groups across the North Star network in different care areas. One working group – on endocrinology, bone and puberty, has been running for 10 months, led by Dr Jarod Wong in Glasgow. This has piloted the suggested model and proposed UK care standards and patient information guides which are currently out for consultation with North Star endocrinologists and professional bodies for revision and approval. This has been a successful start and the model can be used by other working groups within the planned project in other areas of DMD care. A key learning point from Dr Wong’s group is the vital importance of wide consultation with clinician experts and with patient representatives. This will be embedded into the remit of the project. The next steps for working groups will be to identify research questions where there is a need for further evidence to agree on and to support recommendations.

Challenges and individual experiences of care: patient/family views

The following views are those of individuals only Diagnosis: There is too often a lack of information and support at the time of diagnosis. Whilst some families experience excellent and sensitive treatment and delivery of this devastating news, others are left floundering – in one case, told over the phone on a Friday and with no access to any further information all weekend; given sparse information about what Duchenne means and how it will affect their child’s future – the impact on families is devastating. Psychological support: the SoC recommend annual psychological assessments for people living with DMD. This is reportedly one of the most poorly implemented areas of care, in large part due to under-resourcing and already stretched mental health provision in the NHS. Some patients receive no help at all. In addition, whole families are affected and counselling and other mental health support is much-needed. We heard of parents self-referring for counselling and being placed on a lengthy waiting list for only a fixed-period of support. Clinicians also speak of their frustration in trying to get referrals to Child and Adolescent Mental Health Service (CAMHS). Clinical appointments: In some centres, 6-monthly clinical appointments with a neuromuscular specialist doctor are achieved, as recommended in the SoC. In others they are not. Some clinics are currently only able to manage ≥ 9-monthly appointments, others have moved to a nurse-led clinic to meet time demands. This can be due to both a lack of qualified staff and/or clinical space. When parents learn that their care is different to that at other sites, they worry. There is anxiety about whether they are receiving the best and most expert care and advice because it deviates from the recommendations. Where clinics are led by nurses, even though the care may be excellent, there are questions that families have that need to be addressed by their neuromuscular consultant. This means a wait for the professional they have seen to relay their queries to the consultant and then respond. This causes a delay and further anxiety. At the stressful time around appointments, patients and families appreciate and are reassured by immediate or very timely answers to their questions and concerns. Cardiac care: Differences in cardiac monitoring and prescription between centres and from the SoC are a significant concern for many families. Regular cardiac monitoring through MRI, Echo or ECG is recommended in the 2018 SoC along with consideration of heart medication from age 10. Many patients do not receive this. Even when they ask for medication, some are refused and there seems to be a lack of evidence based consensus on cardiac management. Families report disjointing their own care because of this – travelling to other sites where cardiac medication is prescribed. There is clearly a need for consensus in the UK on this issue. Furthermore, female carrier testing with subsequent heart monitoring should also be consistently agreed and offered, and supported within the NHS which needs to create capacity and infrastructure to allow this. Provision of devices: Patients and families report discrepancies between centres in what equipment is available to improve and maintain function. This may be orthoses recommended for ankle movement; it may be cough assist machines – which cannot be taken for granted, yet may ultimately be life-saving. This difference between hospitals often seems to be due to differences in local authorities’ funding – a terrible postcode lottery that needs addressing. Adrenal crisis management: Steroids are recommended as SoC for people with DMD and this seems to be widely implemented across centres. However, the UK sites have different approaches to adrenal insufficiency management. Some centres provide home hydrocortisone packs in order that families can deal with an emergency situation at home, others do not. The patient community feel that all sites should offer them along with education and training in their use where families want them. However, clinicians also report issues of patients being dosed too regularly or with parents and carers feeling anxious about when and how to use hydrocortisone. All agree that a consensus should be reached on the approach to be followed across the UK and that information for patients needs to be improved. Emergency care: In the event of an emergency admission to hospital, expertise in DMD management are not always available. Families and carers often have to be the advocates for care and ensure that emergency staff know what to do and who to consult. Whether to cast a broken femur for example; how to manage a general anaesthetic; stress dosing of steroids – these issues and more need to be highlighted. Of course, not everyone can be a DMD expert, but delays in treatment because the right person or admitting hospital is not obvious and available, cause prolonged pain and a potentially worsened outcome. Transport to hospital can also be an issue with some ambulances unable to carry wheelchairs and with metal beds inside the ambulance being unusable for some people with DMD. Transition to adult care: whilst patients are under paediatric care, they are overseen by a neuromuscular specialist. However, at the majority of centres in the UK, once young men transition to adult care, this specialism is lost. Patients and their families live with an anxiety that they will be treated by people without adequate specialist knowledge of the condition. The management of transition in a better and more harmonised way is a priority for the whole community. Within adult care, we hear of many patients visiting multiple different centres for different aspects of their treatment. North Star clinicians are putting in great efforts in engaging with adult services and have established a network of adult clinicians with a specific interest for neuromuscular disease and DMD. This aims to improve the required multi-disciplinary care, but needs to be supported. Personal care at home: Fortunately, because of improved care throughout the course of DMD, patients are living longer, more independent, higher quality lives. This means that the burden of managing carers and personal care is becoming a greater issue. Pay for carers is low which results in the standard and reliability being patchy. Adult patients may be tasked with the complexities of becoming employers – dealing with hiring and firing, tax and national insurance – stresses that are on top of living with a life-limiting condition.  

Challenges and individual experiences of care: clinician views

The following are view of individuals only The North Star Project was set up in 2003 to help drive improvements in services and set national standards of care for children living with DMD. It constitutes a network of 23 paediatric neuromuscular centres with specialist staff experienced in the diagnosis, care and treatment of DMD. More recently, Muscular Dystrophy UK have started working with neuromuscular specialists that see adults with DMD to extend the North Star network and ensure that the same level of support is provided in adult care. The overall aim of North Star has been, from the start, to optimise the care of patients with DMD by achieving and practicing consensus on best clinical management, with agreed assessment and treatment protocols, no matter which clinical centre is attended. Clinicians and the patient community alike are striving to achieve this. However, now that much more is known about DMD, its natural history and because of the improvements in care and treatment, the picture is more complex and the care across sites has not always been able to keep up with recommendations, resulting in fragmentation. Such fragmentation of care is caused (in part) by: lack of infrastructure; lack of personnel; lack of consensus; lack of resource; capacity issues; and disconnection with local services This often results in: patients travelling to other centres; increased patient burden; poorer care; patient anxiety and frustration; and deterioration of patient/clinical team relationships There are three areas of priority to be considered in the first instance:
  1. Psychological Management
  • A psychologist is not part of the multi-disciplinary care team in most centres
  • Referrals are often difficult due to lack of capacity and knowledge
  • Ongoing input and support is needed from the point of diagnosis
  • Additional needs should be recognised at disease status changes (e.g. loss of ambulation)
  • The impact on the mental health of patients, parents and siblings should be recognised
  1. Physio and Rehabilitation
  • Physiotherapy provision varies across the country
  • Access to orthoses varies from region to region
  • Wheelchair services provide inconsistent assessments and facilities
  • Adult provision of physiotherapy input is inadequate for chronic progressive diseases
  1. Transition and adult services
  • We are failing in providing adult-care services following the prolonged survival in DMD. In part because of:
    • Lack of knowledge of the adult disease
    • Lack of specialised adult neuromuscular centres
    • Lack of service provision (e.g. psychology, physiotherapy, hospital facilities)
  • There is a commitment from neuromuscular clinicians and other health providers to set up an adult North Star network aiming to optimise the care of adult patients with DMD by:
    • Achieving and practicing consensus on best clinical management; supporting patients through the transition into adult service; encouraging patients’ voice and independency
  • The field is set for the UK to show consistent clinical excellence in DMD care
  • There are barriers that need to be addressed and clinicians are committed to doing this
  • Early and pro-active interventions can positively impact quality of life and long-term health costs
  • Stakeholders, clinicians, parents and the NHS must work together strengthening their expertise and remits. Wide consultation, buy-in and communication are critical to success
  • It needs to be recognised that DMD is not solely a paediatric condition anymore

Next steps

  • Andy Burnham agreed that the apparent lack of equitable access to care was significant issue that should be addressed. It was suggested that the next steps should be:
  • 2018 Standards of Care need to be reviewed by UK clinical and patient experts to reach consensus on what will be achievable and realistic to deliver within each area in the NHS structures: Working groups outlined in SoC implementation project.
  • Roll out the working group model to cover the 10 areas of care: Cathy Turner, Dr Jarod Wong, Dr Michela Guglieri and Alex Johnson.
  • Approach Simon Stephens, Head of NHS England to set up a meeting, Andy Burnham.
  • Gather evidence in advance of this about the variability of access to the SoC across different clinics in the UK: survey of patients and of clinical centres in the North Star by Michela Guglieri (supported by Cathy Turner) and Duchenne UK.
  • Establish reasons for gaps – eg, lack of evidence, lack of resource: build on feedback from 2019 survey as above (MG/CT)
  • Approach NICE to accredit firstly our approach to reviewing the new Standards of Care and to then work with NICE to get the guidelines themselves accredited: Cathy Turner with advice from Andy Burnham
  • Approach the royal colleges for accreditation: lead from each working group


The publication of advice in 2018, outlining the standards of care for people living with DMD is a significant step forward in improving quality of life and life expectancy of patients. However, the systematic assessment, prioritisation and collaborative agreement on how those standards should and could be implemented within the UK’s healthcare system via the North Star network, is vital. This will ensure that patients and their families receive the best and consistent care no matter where they live or are treated in the UK. Anxiety about treatment will be minimised, care will improve and confidence will increase. As one parent said, ‘Upon diagnosis, I thought that at least I didn’t need to worry about getting good medical treatment because that would all be taken care of.’ Families should be able to trust and feel that their centre is offering the best agreed care in the UK. They should understand with confidence that decisions about care are evidence-based and expertly reached. Clinicians should feel supported and confident that they have the infrastructure and resources available to them to be able to deliver it. We believe that by working together with other patient organisations, clinicians, patients and their families and academic centres in the UK, we can implement an action plan to achieve this goal for the benefit of all those with Duchenne muscular dystrophy.

Appendix 1: Implementation of Duchenne Standards of Care for the UK, Project Plan

Cathy Turner, DMD Co-ordinator, Newcastle University Alex Johnson, Joining Jack and Duchenne UK Michela Guglieri, Newcastle University Jarod Wong, University of Glasgow   Establish working groups for different areas of the SoC
  • Diagnosis and new-born screening
  • Adult care
  • Cardiac, including female carriers
  • Respiratory
  • Bone and endocrine (including puberty)
  • Physiotherapy and rehabilitation
  • Orthopaedics and Surgery
  • Emergency care
  • Nutrition
  • Psychosocial care
The remit of groups would be:
  • Build on and join work started in adult care (MDUK/Queens Square)
  • Establish current practice across centres
  • Identify the gaps with SoC
  • Identify what is realistic and priority
  • Propose new research questions to support decisions
  • Agree a work plan
  • Identify resource needs
  • Create/promote modified national recommendations
  • Seek endorsement/adoption by professional bodies and NICE
  An example of how the plan would work from the Bone and Endocrine working group. The group comprises of the following members:
  • Clinical lead: Jarod Wong, Glasgow
  • Tim Cheetham, Newcastle
  • Claire Wood, Newcastle
  • Joanne Blair, Liverpool
  • Moira Cheung, London
  • Talat Mushtaq, Leeds
  • Vici Richardson (patient representative)
What the group has done so far:
  • Drafted patient information sheets: puberty and adrenal insufficiency.
  • Producing medical alert wristbands
  • Support educational workshops
  • Proposed guidelines for UK
  • Consulted with NS specialists
  • Preparing for submission to professional bodies e.g. British Society of Paediatric Endocrinology & Diabetes
  • Pose research questions
  • Seek NICE adoption
  Alex has collected testimonies from caregivers and Duchenne patients’ views on the Standards of Care and how they are being implemented across the UK. These will be fed into the working groups. We need to discuss the best ways to support centres in delivering the UK recommendations. We aim to reassure and inform patients and families, gain feedback on progress and hurdles, provide access to funding for centres who want to take steps to carry out research or explore initiatives, facilitate collaboration between different groups to share ideas. If we can get care recommendations from the working groups accredited by NICE, we propose to recognise sites following the recommendations with a DMD Care certification. The scheme would be optional to join – centres could apply. There would incentives for sites to do so e.g. funding to carry out research. Sites not able to follow the recommendations would be offered support to try to. There would be no ‘ranking’ of sites. The main aim of the certification scheme would be to give parents and patients the confidence they are getting the agreed and best SoC no matter where they are seen, improving care and reducing anxiety. Summary and Timeline.
  • Present project at the Adult and Paediatric North Star meetings
  • Facilitate all WGs to follow model (started February 20 – ongoing)
  • Face-to-face meetings of WGs (by June 20) and then annual
  • Submit UK guidelines and other materials to professional bodies after wide consultation (within 12 months of WG start)
  • Establish research questions and identify plan to address (within 6 months of WG start)
  • Work with NICE to establish process needed to achieve NICE guidelines
  • Link with wider European colleagues to work on a European SoC

Appendix 2: Summary of individual patient/family testimonials

Kieran & Louise Sales, parents to Alfie, aged 6, with Duchenne The Sales explained the long and difficult process they experienced getting a diagnosis for Alfie. ‘We were told this devastating news over the phone and were left to deal with the diagnosis alone. No support, no direction and no information as to what Duchenne actually was and how it would affect Alfie in the future.’ Kieran also explained the lack of psychological support for family members struggling to deal with a Duchenne diagnosis. ‘In July last year, I did a self-referral to get counselling, this was followed up by a mental-health assessment in September. I was told that I required bereavement counselling. I am now on a 26-week waiting list and have yet to have an appointment confirmed!’ ‘Alfie’s last 2 appointments were 9 months apart the SoC state that appointments should be every 6 months. A child with a life-limiting illness shouldn’t have to wait an additional 3 months for an appointment. I understand that may purely be down to the constraints of the NHS but we want the confidence that Alfie will get the best care and most importantly access to new therapies that other boys are receiving in other parts of the country.’ Laura Wright, mum to Louis, aged 8, with Duchenne Laura described her concerns about nurse-led clinical appointments when boys should be seen by consultants. She admits that the week leading up a six-month check is incredibly stressful. The delay caused by waiting for the nurse to talk to the doctor to get the answers to the families’ questions makes this anxiety worse. There are problems in the communication process that need addressing. The mental health needs of families have to be considered, no matter where they live. Lisa Kuhwald, mum to Felix, aged 9, with Duchenne, and also a twin Lisa’s son Felix was diagnosed at two and within three years was using a wheelchair. As Felix is a twin, Lisa feels like she is living in a parallel universe, with one twin thriving and the other falling further behind – it is a torture to watch. ‘Different hospitals and different consultants all have different rules. The standard of care is not consistent around the country. Because of this, Felix sees some consultants locally but also at other centres where Lisa feels they can access more proactive care – for example, they travel to a different city to get the prescription they feel is needed for cardiac medication and to have heart checks. Recently Felix’s range of ankle movement has reduced, despite night-splints. It has been recommended that he tries a spring-loaded splint counteract this. Unfortunately, the local authority will not pay for these. This is a like a postcode lottery. If they lived elsewhere Lisa believes he me be able to access this important treatment.’ Rachel Halpin, mum to Harry, aged 9, with Duchenne Rachel feels that parents are not prepared or educated in how to deal with an adrenal crisis. She says that some parents are given hydrocortisone packs and some are not. She wants ALL parents to be given access to packs if they want them and given appropriate training in their use. Maggie Wellington, mum to Efren 12, with Duchenne Efren was diagnosed in 2015, Maggie says that despite the devastation of this, she thought that healthcare provision would not be something she would have to worry about. Efren has been tested for scoliosis and has had to wait an unacceptable three months for the results. He is seen once a year by a cardiologist but has not been offered any prophylactic heart medication – yet the 2018 SoC recommend considering this from the age of 10. The family know of other boys at other sites in the UK who have been given access from the recommended age. She says that, as the parent to a boy with Duchenne she is always chasing answers. She understands there is no cure but demands her son at least receives the basic standard of care. Bernie Mooney, dad to Ben, aged 19, with Duchenne Ben walked independently around the house until nearly 18 – an incredible achievement for a boy with Duchenne. However, after a fall, the local hospital did not know how to treat his broken femur appropriately. It was up to the family to advocate for Ben. The doctors could not operate because they did not have the specialist knowledge needed. However, finding a specialist site that could and would take him was difficult and took several days of pain and worry. It was extremely traumatic knowing that every day that we waited the likelihood of him walking diminished. The operation was a success and 2 days later the physios had Ben on his feet. At 19, Ben can now walk to the toilet with one of us holding his hand and can still transfer into the front seat of a car. It’s the simple things that matter so much. Yet, if it weren’t for his parents fighting for the correct treatment, the outcome could have been very different. Ben is transitioning now to adult care just at the time when he is beginning to deteriorate more. As a paediatric patient, Ben has been under the care of a neuromuscular specialist. As an adult, there is no specialist care in his area. He is at an age where heart and lung function decrease and

Published on 10 May 2020

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