making muscle wasting history

The launch event for the family friendly version of the Standards of Care for Duchenne Muscular Dystrophy took place on 2nd June at the Royal Society of Medicine in London. The event was attended by a good mix of patients, parents, patient groups, clinicians and commissioners (those responsible for funding care services).

There were a range of speakers and an open discussion forum about how best to utilise the Standards of Care document. There were various view points aired by all sections of the audience and panel. While some thought a centralised approach was the way to go, others thought a regional approach was best and there were also several views in between the two. What everyone agreed on though is that we are all aiming for is much better, coordinated health care for those living with Duchenne and a significant change in attitude by some health care professionals. Those living with Duchenne should not be given up on, there is hope and that with good healthcare Duchenne patients can live into their 30s and 40s, live independently and can contribute to society.

At the end of the day it was agreed that there had been a good debate and that the debate should continue to ensure that we all make best use of the Standards of Care guidelines.

Summary of the Presentations

Professor Kate Bushby
The day started with a key note presentation from Professor Kate Bushby. Kate explained the key stages with DMD, that it starts with skeletal muscle weakness and then affects heart and lungs. Complications are what threatens survival, however whereas DMD itself is incurable at the moment, the complications can be treated. In the 1960s the average age of death of a DMD patient was 14, in the 70s, 80s, and 90s that went up to 19. Since then the age has increased due to respiratory support. We are now looking at survival into the 30s and seeing proof that people with DMD can live into their 40s. With longer life expectancy we now need to look much more seriously at adult care services.

A best practice document with international consensus was produced with the support of the Center for Disease Control (CDC) in the US, and can be used as a tool to lobby healthcare providers. The Standards of Care for Duchenne document provides a baseline for care and we want to use it to encourage further excellence and further research.

As research into treatments for Duchenne progress we need a baseline standard of care that all patients receive so that when trials become more widespread the results can be relied upon (because all patients are receiving the best care).

Consensus for the Standards of Care was collected in an unbiased way, ensuring that those with the loudest ‘voice’ didn’t have undue influence. 80 experts went through three stages of recommendations in eight different disciplines. The resulting document gives directions for care that change over time as the disease progresses through different stages.

Having arrived at an international consensus document it is important that we make the most of it, and that it is disseminated to all those that need to see it. The Standards of Care call for multi-disciplinary care lead by an experienced Duchenne clinician.

Kate went on to stress how important early diagnosis will become as new treatments become available for Duchenne. The current average age of diagnosis is 4.5 years old, which is not soon enough.

Kate then spoke about Steroid Management and the North Star network for steroid management and audit. There are currently 17 centres involved and it could be possible that these centres are utilised to deliver Standards of Care for Duchenne.

Physiotherapy is an important aspect of treatment to maintain movement for as long as possible. Physiotherapists need to be trained in the specific aspects of Duchenne and need to be able to coordinate with wheelchair services. Again there is an existing network which we may be able to use.

At this point Kate made the point that the UK wheelchair football team has a much better track record than any of the national teams, and reminded us all that the whole point of medical care is so that people with Duchenne can get on with their lives and enjoy themselves.

Other aspects of care that Kate touched upon were the importance of cardiac and respiratory care, pulmonary care and the need to plan any surgery. Here she referred to the emergency care guidelines produced in collaboration with herself and Action Duchenne.

Cardiac care is vital now that DMD patients are living longer. Psychosocial care has an important part to play, we need to recognise the problems that children may have with learning. Guidelines have been produced for schools but they have not been applied systematically.

The registries are a key tool for the roll out of services to Duchenne patients, for instance, they can be used for important out reach messages, like reminding patients/parents that they need to have an H1N1 vaccine etc.

Kate summarised by stating that we need to optimise the future for patients with DMD. We need to address the increasing number of options, and we need to prepare the current generation for adult life and even living independently. We need to change attitudes of doctors because there is hope.

The guidelines need to be properly supported across the UK. They provide a baseline for care, and a starting point for training of healthcare professionals, education and further research. The family guide is now available and being disseminated by the patient organisations. We need to build on the current infrastructure, consolidate multi-disciplinary care to make it available to all, and it needs consistent funding.

Robert Meadowcroft – Muscular Dystrophy Campaign, Director of Policy & Campaigns.
Robert opened his presentation with apologies from MP Dave Anderson who is head of the All Party Parliamentary Group for Muscular Dystrophy. It was the first Prime Minister’s Question Time, which Dave had to attend. Robert also apologised for not being able to stay for the full day himself. (Nic Bungay took Robert’s place in the panel discussion in the afternoon session.)

The theme of Robert’s presentation was Together we are Stronger. He went on to state that people have a right to expect the best care and then outlined projects that MDC has been involved in. These included six projects specifically for DMD, funding provided £600k, and a further 7 projects that were linked to DMD, funding provided for these was £900k. There are now 17 centres in the North Star network and they have raised £5.6m with Tesco to fund wheelchairs and other equipment.

MDC is running a Trailblazers campaign, where 200 young campaigners, some with DMD are working on research around equal opportunities for access to employment and holidays. The findings will be announced later this year.

Robert commented that NICE has not agreed to approve the Standards of Care for Duchenne. He said that international standards are improving, but that the UK still needs to invest in specialist care. He commented that data collection is critical.

Robert told us how in the West Midlands the cost of unplanned emergency admissions for muscular dystrophy patients (not just those with DMD) was £6.6m. Across the PCTs the costs varied widely with those PCTs that provided better care having fewer emergency admissions. So while providing good care costs more, it saves money in the longer term. He then went on to explain how the commissioning of specialist services is still regional by PCT. As social care is now devolved to the three countries and the 10 English regions, MDC now needs to run 13 campaigns.

Robert finished by reminding us again that it is a human right to receive the best health care, and that we need to keep up the pressure for change because time isn’t on the side of patients with DMD.

Nick Catlin – CEO, Action Duchenne
Nick opened his presentation by commenting that this was a landmark day, where for the first time we have published Standards of Care for Duchenne, and we have patients, patient groups, clinicians and people responsible for funding/commissioning services all in the room together. He commented that while we didn’t all necessarily agree how to get things done, we did all agree about where we are trying to get to.

Nick’s first slide was of a photo of men in wheelchairs – it was a group of men with Duchenne, who are in their 30s and 40s. His caption was that this photo could not have been taken in the UK, because there simply are not that many men of that age with Duchenne surviving in the UK. The photo was taken in Denmark.

Nick went on to discuss why Denmark has such a good track record of providing care for Duchenne patients, even before the Standards of Care were published. Looking at healthcare expenditure per head of population in the UK is $2986, in the US $7290 and in Denmark $3500 (source: National Geographic). So Denmark spends a bit more than the UK, but nothing like as much as the US, where arguably the services for Duchenne patients are even worse than in the UK.

The main difference is that in Denmark they have implemented multi-disciplinary care. This has dramatically raised life expectancy rates. Steroid, respiratory and cardiac care are all very well co-ordinated. There is a national centralised out-patients centre where those living with Duchenne go for a check up every six months. In Denmark they probably do spend more on what we would call support services (they call it Home Care), but it is difficult to ascertain the figures. Duchenne patients have access to housing, 24/7 care provided by a team of carers that work shifts, transportation and a petrol allowance. The issue in Denmark is not how will these men survive, but ensuring they have adequate education to find useful jobs.

The 2009 Action Duchenne survey showed that families in the UK do not receive multi-disciplinary care, with the exception of those families that have access to either the Newcastle or Great Ormond Street Centres of Excellence. All families wanted multi-disciplinary care and didn’t mind travelling (within reason) to get it.

Nick cited the MDC Walton report on care for young men with Duchenne saying it makes for harrowing reading because the services are so poor.

Both these reports highlight a prevailing attitude within the healthcare sector that the boys are going to die young so there is no point in trying. Attitudes have to change and we have to start planning for the future, with education leading to independent living for men with Duchenne.

Nick went on to say that research should be funded centrally by the government, and not be reliant on charities. (Nor for that matter should we be relying on charities to provide decent wheelchairs.) The whole service needs to be centrally managed and funded – they’ve managed it in Denmark, why not in the UK.

Nick’s final comment was that we can’t tinker with the system any more, we need a radical restructuring. We all need to come together to solve the problem that includes patients/patient groups, clinicians and the government.

Duncan Gardner – Member of Duchenne Family Support Group
Duncan is a founding member of the Duchenne Family Support Group. There are now over 500 member families (?) in the group. They provide support with a part time helpline and three or four newsletters a year. One of the areas where DFSG differ from the other patient groups is that they organise events, away days and holidays, enabling DMD patients and their families to share enjoyable experiences together.

Duncan commented that the new Standards of Care document is in parent friendly language and is an enormous help to parents when asking for help from their local service provider.

Duncan finished his presentation by saying that he was very much looking forward to the next stage – Standards of Care for the treatment of Duchenne in adult life!

The meeting then broke for lunch.

Panel Discussion
The afternoon session started with a panel discussion, which was very lively and very interesting. Each panel member introduced themselves and stated the question or issue that they wished to raise at today’s meeting.

The panel consisted:
Dr. Michelle Chatwin, physiotherapist. How can we tell when is the ideal time for respiratory treatment to start.

Nick Catlin, Action Duchenne. How are we going to radically reorganise the NHS to ensure that services will be delivered.

Nic Bungay, MDC. What advice those NHS Commissioners in the audience could give on how we can work together to deliver service improvements.

Prof. Kate Bushby, clinician. How do services provided impact on patients lives and how can we ensure that the patient voice is heard.

Dr Ros Quinlivan, clinician. How can we develop services further and how can we train doctors.

Lyn Inman, MDC. How can we help families to get best use from these Standards of Care guidelines.

Jonathan Stringer, patient representative living with Duchenne. Interested to see how these standards can help me and my family.

Comments from the floor
Victoria Lidstone – Consultant Wales and all Wales lead for transition. First Victoria congratulated Kate and her team on getting the Standards of Care document published in the Lancet – a major achievement. Victoria commented that if all clinicians sign up to the idea of providing evidence-based best practice, then the guidelines would be a powerful tool as they are exactly that – evidence-based best practice. If a clinician did not agree to provide the level of care laid out in the guidelines the family would have a good case for taking the situation further. Victoria commented that it is important for families to take the guidelines to their GPs.

Nick Catlin replied that going to GPs in itself is not solving the problem. The key point is to get access to proper respiratory and cardiac assessment, and that GPs should refer patients to the Centre of Excellence. He added that at the moment there are only two Centres of Excellence with a further two locations that could become centres. They don’t cover the whole country.

Nic Bungay commented that there is a meeting with the All Party Parliamentary Group for Muscular Dystrophy on 6th July where MDC would present them with a copy of the guidelines and ask that this is raised on a national level, to ensure that specialist neuromuscular services are high on the agenda of the new coalition Government;

Kate commented that the guidelines are very helpful for commissioners as they now have a published care pathway.

Jenny Shine, from the SW Neuromuscular Network commented that most clinicians are keen to improve the service provided. But changing the NHS is difficult and takes a long time. Having evidence-based guidelines is extremely helpful and a good start.

Kate explained that they had approached NICE for approval for the guidelines, but NICE have such a high workload that it would take a long time to gain full approval. They are hoping to go back to NICE to negotiate some form of approval.

Nic Bungay said MDC would get back in touch with NICE and request that they endorse the guidelines

Someone from the floor suggested that we asked SIGN to ensorse the guidelines (SIGN are the NICE for Scotland).

There was then a discussion about the issue of early diagnosis.

Roz Quinlivan who is a clinician based in Oswestry in Wales where they have the new born screening programme said that she was not convinced that it was a good thing at the current time. Roz suggested that maybe it would be better if children seen at late development clinics had a CK test, rather than all newborns.

Nick Catlin thought that early screening is a good idea because with new treatments coming it would be important to treat the children as soon as possible.

John Burke, who is parent with a son Seth, now 18 months who was diagnosed at six weeks spoke movingly of his and his wife’s experiences of the early diagnosis. He commented that the test was not explained properly in advance and that there was little or no support after diagnosis. Because Seth doesn’t yet have any symptoms local physiotherapists do not wish to take him on as it increases their workload, and he now has appointments at Great Ormond Street, a journey of 150 miles, that he would not otherwise have had for a few years. John summarised saying that in its current format new born screening does not work, it is a cruel and unnecessary torture for families.

Roz (?) said that a national commissioning service was required where patients/parents see the appropriate specialist at the right time.

Kim Cox – Commissioning Representative from Yorkshire and Humberside Specialised Services Commissioning Group commented that at the moment these services had to be commissioned regionally as that is the only infrastructure we have.

Stephen Nutt from Rare Disease UK said that all EU countries are required to develop a National Plan for rare diseases. Levels of commissioning are an integral part of the plan with care being delivered at a local level.

Steve Collins from the National Specialist Commissioning body cautioned to be careful what you wish for. He explained that national commissioning is controlled centrally and is really only suitable for very small cases, for instance where there is just a few hundred patients affected.

Nic Bungay made the point that the South West now has a MCN, five new CAs, and new health professionals – underlining the point that regional approach does work. The West Midlands new investment also proves this point.

Jenny Shine commented that the regions do not work in isolation, they talk to each other on a regular basis both formally and informally.

Nick Catlin commented that he was strongly in favour of the centralised approach. He explained that the problem with the regional approach is that they are looking to squeeze more resources out of the existing system. He reiterated that what we really need is a network of Centres of Excellence.

Lyn Inman of MDC made the point that it would be difficult to manage ‘centres of excellence’ in every region, as we do not have the clinical expertise at the moment; and asked the panel and audience for opinions on this point.

Kate agreed that a network of Centres of Excellence is what is needed and that there are enough people that could be trained up to run the centres. She commented that it would take time, but that it could be done. Katie further commented that having the network of centres of excellence would give additional confidence to parents/patients in the service.

Michelle Chatwin, specialist physiotherapist commented that patient centred records would be a good way to support multi-disciplinary care as each clinician would be able to see the full case history and see how the case had developed etc.

Roz Quinlivan commented that there is a particularly nihilistic attitude to adult DMD patients should they contract normal adult illnesses and need an operation, for instance gall stones or appendicitis. Roz suggested that there should be specialist beds available. (This suggestion was also made by Carl Tilson later in the afternoon).

Mayo Marriott, aged 36 and living with DMD commented that the guidelines should include the patient’s point of view. It should include sections on puberty and sexual needs.

Katie and Lyn agreed that the patient’s voice was very important and that it would be great if Mayo formed a patient group to give these views.

Jonathan Stringer, aged 22 living with Duchenne commented that a lack of understanding even on the little things can be frustrating. For instance, when he was in hospital there was a buzzer to call for a nurse if he needed help, but he couldn’t work the buzzer, so his Dad brought him a small bell which he could ring instead. This lack of attention to detail is probably down to lack of specialist training.

The panel discussion finished here.

John Burke, Parent
John gave his perspective from a parents view point. John is a Charge Nurse in Intensive Care so was able to comment on ‘the system’ both from within and from being on the receiving end.

First John commented that he thought the Standards of Care was an excellent document on patient centred care. He commented that this should be the baseline for care, a starting point rather than an aspiration. John went on to say that the NHS likes standards and models that they can benchmark against.

John went on to say that these Standards of Care will add 10 or 20 years of life for his son Seth, and by then, who knows what breakthroughs there will be for treatments for Duchenne.

From a parents point of view John reiterated the points that he now has to go to Great Ormond Street because there is no where else to go until Seth has symptoms. He commented that we need Centres of Excellence as they will be the only places capable of running clinical trials when they become more widely available.

The meeting broke for a tea break and then reconvened for the final presentations of the day.

Mayo Marriott – aged 36 and living with Duchenne
Mayo spoke about his experiences of living with Duchenne. He has been working with MDC, Action Duchenne and DFSG, and would like to be a beacon of hope and positivity, and a role model for others living with Duchenne. Mayo is a member of the MDC Living with MD Support Group.

Mayo read his essay about how it feels to live with Duchenne which was both poignant and funny in parts. Mayo told us how he was involved in a serious car accident, although he was relatively unscathed, and how having been preoccupied with dying, when he faced death, he didn’t fear it so much. He realised that you have to make the most of every day of your life. He commented that positivity is very important and that you have to have a reason to live.

Mayo talked about coping with negative emotions, he advised being selective about who you talk to. He has benefited from therapy, and said that you need to accept yourself for who you are, not worry about who you are not. You need to have interests and hobbies, Mayo likes to read and write. He said that you must resist the temptation to stay indoors all the time and that it is good to get out at least once or twice per week.

Mayo said how he had struggled with wheelchair services. He advised to always push your case – once he was forgotten for a couple of months – his persistence got him back on the list. You never know if you have been forgotten so don’t let them forget.

Mayo finished by saying that he finds spiritual guidance very comforting and helpful, and above all a sense of humour helps him to cope!

Carl Tilson, aged 23 Living with Duchenne
Carl started working with Action Duchenne several years ago, after becoming very ill. He decided to make the most of his time left. This year he was voted Mancunian of the Year, beating celebrities like Ryan Giggs and Gary Barlow. His next ambition is to win a Pride of Britain award which will help him to further raise the profile of Duchenne Muscular Dystrophy.

Carl talked about his experiences. He said that as a child growing up with Duchenne the services received from Pendlebury Hospital were very good. His heart and breathing functions were monitored and his spine was checked regularly for curves. Carl has had several operations including rods put in his back to keep his spine straight.

Carl told us how at 16 he was transferred to adult services, where you are just another patient in the system. He said that he had no specialist help and no direction. He commented on how they don’t check your heart or your breathing unless you ask – this at the very time when it is becoming most important.

While in hospital Carl said how he was put in a ward with old men, where he caught a chest infection, which is very serious for a Duchenne patient. Carl suggested a separate ward and he also commented that specialist DMD nurses that understood the condition would help a great deal – this echoed Jonathan’s earlier comment.

Carl now travels nearly 150 miles to Newcastle to the Centre of Excellence. He travels by train because it is more comfortable than by car, but it is expensive. Carl also commented on the need for more Centres that cover the whole of the UK.

Carl read out a quote from Ian Griffins, aged 25 living with Duchenne in Wales. Ian said that how due to lack of care when he was younger, his spine is now so curved that it is making procedures he needs now much more risky than they otherwise would have been had he had the corrective surgery that Carl has had.

Carl and Ian both want more choice for patients, more options so that they feel in control of their own lives.

Carl finished his presentation with a video he had made. Carl’s message again was one of positivity for those living with Duchenne.

Kim Cox, Specialised Services Commissioning Manager at Yorkshire and Humber Specialised Commissioning Group.
Kim was the final speaker of the day and took the stage with some trepidation after two such moving and inspirational presentations from Mayo and Carl.

Kim explained commissioning with an amusing but pertinent Noddy’s Guide to Commissioning. For detailed definitions of specialised services he suggested that people visit www.yhscg.nhs.uk

He explained that specialised services need to be planned for populations of 1 million or more as they are generally high cost and low volume. Such services are generally delivered by relatively few specialised centres.

Kim explained that there are three aspects to Commissioning. These are:
• Planning – what do we need
• Procurement – buying the service
• Performance Management – did we get what we paid for

Kim is mainly involved in the planning stage. For this there are the key questions, What, Why, When, Where, Who and How. And an additional question, Which. They have to decide which elements of care are specialised. There are 10 SCGs in England which are made up of 139 PCTs. Each SCG decides which care elements are specialised.

Kim went on to comment that the Standards of Care guidelines are very helpful because they answer many questions about what types of care should be given when, and it shows how all the elements of care work together.

Kim finished by saying that his Commissioning group has been working with MDC to get two care coordinators with a view to getting clinicians and care coordinators together to see what they can learn from each other, so to provide a better, more joined up service.

The meeting finished with a footnote from Kate that we are making progress and we should all be positive about the difference we can make. That positivity will disseminate and we will change attitudes. Kate thanked everyone for taking the time to attend the meeting.

Everyone thanked Karen Rafferty for organising the event.