MEMORANDUM SUBMITTED BY THE MUSCULAR DYSTROPHY CAMPAIGN

(CBPS 43)

Introduction

1. The Muscular Dystrophy Campaign, in conjunction with leading neuromuscular clinicians in Wales and England, welcomes the opportunity to provide evidence to the Welsh Affairs Committee's inquiry examining the provision of cross-border services for Wales.

1.1 We have a number of serious concerns regarding the coordination, effectiveness and funding arrangements of the cross-border provision of specialist health services. The provision of cross-border health and social care services varies greatly and there are many cases where an inconsistent, haphazard approach by Local Health Boards and Health Commission Wales is evident.

Summary

1.2 Patients with neuromuscular conditions in Wales require specialist multi-disciplinary care. Some Welsh patients, particularly those in North Wales and Mid Wales, fail to receive such a package of care and need to access services across the border.

1.3. The Muscular Dystrophy Campaign has uncovered evidence illustrating delays and barriers in accessing such cross-border services, a failure by some Welsh Health Boards to pay for cross border services and an inconsistency in funding cross border diagnostic tests.

1.4. Local Health Boards in Wales must pay for those cross-border services used by local patients, particularly those services such as physiotherapy currently provided by the charitable sector.

1.5. There is little accountability when failures relating to cross border issues occur and greater transparency in the system is urgently required. An improved protocol between the Welsh Assembly Government and the Department of Health must be arranged to deal with any discrepancies on cross-border issues.

Note re Submission of Evidence

This written evidence has been submitted by Robert Meadowcroft, Director of Policy and Operations, on behalf of the Muscular Dystrophy Campaign.

Nature of the conditions

1.6. There are more than 60 different types of muscular dystrophy and related neuromuscular conditions. It is accepted that over 1,000 children and adults for every 1 million of the population are affected by muscle wasting neuromuscular diseases in Wales. Therefore it is estimated that around 3,000 people are affected by a neuromuscular condition in Wales. Many neuromuscular conditions are low-incidence conditions and indeed some are ultra orphan. Neuromuscular conditions can be genetic or acquired.

1.7. A number of these disorders, such as Duchenne muscular dystrophy, are aggressive and cause progressive muscle wasting and weakness, orthopaedic deformity, cardiac and respiratory compromise and result in premature death. Neuromuscular disorders such as these are often present in childhood or young adult life.

1.8. It has been shown that a lack of specialist neuromuscular diagnosis, treatment and care, particularly for those patients with life limiting conditions, can affect their life expectancy. In those conditions where neuromuscular specialist services have a less dramatic improvement in life expectancy, there is nonetheless a major improvement in quality of life.

1.9. The majority of patients with muscular dystrophies have heart related problems. Muscle weakness is often associated with poor ventilatory ability and respiratory failure. These are often overlooked by professionals unfamiliar with these conditions. Pain management is a common feature as these conditions can cause nerve deterioration or neuropathy.

2. Despite the above points, neuromuscular services are not designated as a specialist service by Health Commission Wales.

The need for specialist multi-disciplinary care [See Appendix 1]

2. Specialist multi-disciplinary care has been developed by leading clinicians as the best model for delivering effective care for such complex, multi-system diseases. The provision of expert physiotherapy, orthotics, early cardiac monitoring and intervention and corticosteroids has been shown to improve muscle function and maintain independent mobility.^[i]

2.1. The judicious use of spinal surgery and expert respiratory services (including non-invasive positive pressure ventilation) helps to improve quality of life, delay the onset of respiratory failure and prolong the life of these patients.^[ii]

2.2. The medical specialists that can deliver different facets of diagnosis and care vary from neurologists (adult and paediatric), to inter alia clinical geneticists, paediatricians, rehabilitation physicians, cardiologists, orthopaedic surgeons, pathologists and palliative care specialists. In addition, specialist physiotherapists, occupational therapists, speech and language therapists and various specialist nurses relating to the above groups have important roles in supporting and monitoring the patient and their family.

2.3. The development of services for patients with neuromuscular diseases in Wales has been inconsistent and heavily dependent on the research interests of dedicated individuals who have developed a clinical interest in a neuromuscular disease. There is no current strategy in place for succession planning, leaving the services fragile and vulnerable in view of their heavy dependence on the lead clinicians.

Lack of specialist multi-disciplinary care in Wales

2.4. Many patients in Wales with a neuromuscular condition do not have access to such multi-disciplinary specialist care The Muscular Dystrophy Campaign undertook a survey of the 22 Local Health Boards (LHB) in January 2008 in order to build a picture of access to healthcare services for people with neuromuscular conditions. The authors asked the Health Boards to provide information regarding services commissioned locally for people with neuromuscular conditions.

2.5. Out of the 20 LHBs that have so far responded, the following picture has emerged:

· 75% of LHBs who responded do not support a muscle clinic that offers a service to adults with neuromuscular conditions.

· 70% of LHBs who responded do not support a muscle clinic that offers a service to children with neuromuscular conditions.

· 70% of LHBs who responded do not support any adult or child muscle clinics within their area. [See Appendix 2]

2.6. Health Commission Wales (HCW) responded to our enquiries by stating that none of the contracts set up by HCW contained the level of specification requested. HCW cited weekly adult muscular dystrophy clinics in Swansea run by two consultants. Two English centres offering specialist multi-disciplinary muscular dystrophy clinics at Alder Hey Hospital in Liverpool and at the Wolfson Centre for Inherited Neuromuscular Disease in Oswestry were highlighted. HCW failed to mention paediatric or adult neuromuscular services in Cardiff.

2.7 There is no requirement within the commissioning structure to ensure that the staffing levels within, for example, paediatric neurology departments in Wales include a specialist in neuromuscular diseases. Most departments rely on the individual interests of applicants for posts rather than recruiting directly a specialist with an interest in a neuromuscular disease.

2.8. In Cardiff part of the adult muscle management services are provided by Clinical Geneticists. There is a serious concern amongst senior clinicians about the threat to prevent them conducting muscle clinics, because this has been deemed outside of the National Definition of the role of a Clinical Geneticist.

Examples: Ventilation

2.9. Ventilatory support can enable many people with compromised respiratory function to live a longer and better quality life. It is vital that ventilatory services are available for people with neuromuscular conditions if and when they are needed, and that these services are provided by multi-disciplinary teams with experience in managing individuals with neuromuscular disease.

3. Commissioning of services for non-invasive ventilation across Wales is uncoordinated and is varied. For some areas, the LHBs and the specialist commissioner HCW are unclear on whose responsibility this is. This leads to delays for patients in receiving their treatment and equipment to aid them with their breathing.

Physiotherapy

3.1. Physiotherapy intervention exists in some paediatric clinics. However, these community physiotherapists are not specially trained nor do they have expertise in neuromuscular conditions. These services are reliant on the interest of the therapist and are not strategically planned.

3.2. The services that are available are dependent on the locality of the patient. A patient from outside the Local Health Board area who is attending the clinic would not be eligible to receive any physiotherapy.

3.3. Specialist neuromuscular physiotherapy is not available for patients at any adult muscle management clinic in Wales, other than a specialist respiratory physiotherapist attending most of the bi-monthly neuromuscular ventilation clinics in Cardiff.

3.4. The importance of specialist professionals should not be understated. Specialist neuromuscular physiotherapy for example, has been shown to prevent and minimise contractures, improve mobility and the quality of life of patients for adults and children.

3.5. A specialist physiotherapy service and specialist muscle pathology services exists across the border at the Oswestry Neuromuscular Centre and neuromuscular physiotherapy services are provided at the Neuromuscular Centre in Winsford, Cheshire.

North/South divide

3.6. Evidence from the LHBs, clinicians and patients shows those services which are available exist in South Wales. Furthermore, the degree to which they provide a comprehensive service is highly variable.

3.7. In North Wales and mid Wales there is no dedicated service for patients - adults or children - with neuromuscular conditions. In addition, one of the few lead clinicians in South Wales with a special interest in neuromuscular conditions is retiring in the autumn 2008. It is essential that steps are taken to recruit a successor who is also a neuromuscular specialist to ensure the service continues. In West Wales, a clinic is run, but only in the clinician's own study time.

3.8. Many patients cannot access these services and receive inferior services or, indeed, may receive no services at all.

3.9 Patients from North Wales often travel to the Walton Centre in Liverpool for treatment. It is much easier for them to access specialist services just across the border than to make the long journey from north to south Wales, for example to Cardiff or Swansea. The need to access services in England for South Wales patients is less apparent due to existing clinics in Cardiff, Newport and Swansea.

4. For a number of reasons, patients from all over Wales may need to be referred further afield, for example for specialist treatment in London hospitals. Some patients in Wales have to travel great distances and at a huge expense to access specialist multi-disciplinary care. [See Patient case A]

Problems accessing services outside of Wales: Neuromuscular Centre (NMC) in Winsford

4.1. Eight patients from Wales travel to the Neuromuscular Centre (NMC) in Winsford regularly to receive physiotherapy. The Neuromuscular Centre provides a range of specialist physiotherapy with the sole aim of improving the quality of life for adults with neuromuscular conditions. There are currently five patients from Flintshire LHB receiving treatment at the NMC. These five patients travel to the centre every two to three weeks for specialist physiotherapy, which is essential in maintaining their health and independence.

4.2. However, Flintshire LHB refuses to pay the NMC for the treatment, despite referring the patients indirectly for physiotherapy. Of these five patients, three were referred from Flintshire LHB to the Orthopaedic hospital in Oswestry - a consultant then referred them to the Neuromuscular Centre. One was referred from Flintshire to the Walton Centre for Life and then on to the Neuromuscular Centre, and one patient from Flintshire to the Wrexham Maelor Hospital, where a consultant referred them to the Neuromuscular Centre.

4.3. Wrexham LHB currently refuses to fund one patient receiving physiotherapy regularly at the NMC.

4.4. The essential clinical care these patients receive is funded by NMC rather than these Health Boards in Wales. The NMC is a charitable organisation and relies on contributions from LHBs and PCTs for services they use, as well as its own fundraising efforts. Flintshire LHB use services provided by the NMC at a total cost of £11,000 per annum. All other Local Health Boards using these services provided by the NMC fund their treatment and pay the NMC.

Wolfson Centre for Inherited Neuromuscular Disease, Oswestry:

4.5. Dr Ros Quinlivan, a specialist in Neuromuscular Disease at the Wolfson Centre for Inherited Neuromuscular Disease, Oswestry, received a copy of a letter via the appointments manager in December 2007 from one Local Health Board which stated that the hospital was not allowed to see any patients from that particular LHB area until April 2008, due to funding constraints. Until then, 'provisions would be made to treat patients locally'. Dr Quinlivan replied to the letter asking what provisions could be made locally for patients with neuromuscular conditions, but no reply was received. One patient is known to be currently waiting for an appointment. Such provisions would be impossible to be provided locally, due to the highly specialised nature of care required to treat patients with neuromuscular conditions.

The following are further examples of long waits and problems for patients requiring specialist care from across the border at Oswestry:

4.6. A young child aged 18 months with a gait disorder. An urgent referral for an appointment was requested. Despite several requests to this effect and letters from his Paediatrician, approval to see him was delayed by the Local Health Board until 18 months later

4.7. A six year old boy with waddling gait had a similar experience. The child had to wait 18 months despite requests for urgent appointments.

4.8. A woman with dermatomyositis. The referral letter was intercepted before reaching the consultant and the GP informed her that she must wait 8 months. The original referral letter was received by the consultant 3 months later (ie letter dated 30^th June 2007, arrived 2^nd October 2007).

4.9. Two English patients have been referred to the muscle service clinic in Cardiff. Those referrals were refused on the grounds that the patient is from outside Wales

5. A request for a DNA sample from a Duchenne patient to be sent to London for specialised genetic testing that cannot be performed in Wales was recently refused.

Diagnostic tests

5.1. Welsh commissioners will not consistently fund diagnostic tests for Welsh patients at recognised specialist centres in England. To ensure timely and accurate diagnosis, it is essential that patients are able to access diagnostic services at recognised specialist centres in the UK. Welsh health commissioners are reluctant to finance the sending of lab samples to recognised specialist centres in England for diagnostic services including: specialised diagnostic stains for muscle pathology and Genetic DNA tests for specific rare disorders. The result is that some Welsh patients receive inadequate diagnosis compared with the rest of the UK.

5.2. A consultant paediatric neurologist in Cardiff reports delays in requests for DNA to be sent outside of Wales for tests. The geneticists have a committee who decide whether or not to agree to tests requested, so some weeks elapse between making the request and the DNA being sent.

5.3. One SEPN1 analysis (a DNA sample) requested 18 months ago was at first refused, causing delay for the patient and a waste of the clinician's time in having to follow this up. There is unnecessary work involved for clinicians in Wales trying to organise tests rather than, more simply, putting them through the National Commissioning Group, (formerly known as the National Specialist Commissioning Advisory Group) if they could use the same mechanism as clinicians in England.

Conclusions and Issues for the Committee

5.4. The Muscular Dystrophy Campaign, in conjunction with leading clinicians both in Wales and England, has made the case that access to specialist services for children and adults with muscle disease is essential. For some patients living with a neuromuscular condition in Wales, this means accessing services across the border.

5.5. The Muscular Dystrophy Campaign is concerned to hear evidence submitted to this inquiry suggesting that considerable savings can be made for the Welsh health system by ensuring treatment does not occur in England.

5.6. Local Health Boards in Wales and Health Commission Wales must accept responsibility for the commissioning and funding of treatment provided at specialist neuromuscular centres in England - Welsh patients require access to necessary services.

5.7. The alarming lack of consistency in the funding of cross-border services by certain Local Health Boards means that when funding is refused, Welsh patients may not be able to access high quality specialist services in England and therefore do not receive the treatment that they are entitled to.

5.8. An improved protocol between the Welsh Assembly Government and the Department of Health must be arranged to deal with any discrepancies on cross-border issues. Transparency in the system must be improved by ensuring mechanisms are in place for identifying and resolving cross-border deficiencies and patient waiting times. 5.9. Waiting times held for cross-border patients must be included in all official performance statistics. [Appendix 3]

6. For diagnostic tests, the UK Government should consider establishing a centralised fund for rare conditions. Clinicians in England are able to put diagnostic tests for these rare conditions through the NHS National Commissioning Group.

6.1.Commissioners in Wales must recognise the problems arising from the mix of rural, urban and valley areas that exist across Wales, meaning services are particularly inaccessible and inadequate from some areas;

6.2. NHS Wales and Health Commission Wales should conduct an urgent review of existing specialist neuromuscular services, in order to establish current gaps in service provision in Wales.

6.3 A neuromuscular managed clinical network should be considered, utilising specialist services and expertise on both sides of the border.

Appendix 1

The need for a multi-disciplinary team

As these are complex multi-system diseases, a specialist centre requires a multi-disciplinary team approach to care. Most often this involves a network of highly specialised clinicians who are not always based in the same centre. This team comprises:

· Adult clinician with specific training in muscle diseases including myasthenia

· Adult neurologist with specialist training in neuropathies

· Adult and paediatric neurologist with specialist interest in congenital myasthenia

· Two Paediatric Consultants with specialist training in neuromuscular disease

· Adult and paediatric respiratory physicians who run non-invasive ventilation services and appropriate support staff

· Adult and paediatric cardiologists with specialist interest in NMD

· Clinical neurophysiologists with a special interest in NMD including single fibre EMG

· Clinical geneticist

· Genetic counsellor

· Specialist Neuromuscular physiotherapist

· Occupational therapist

· Neuromuscular Regional Care Advisor/ patient advocate

· Neuromuscular nurse specialist

· Clinical psychologist with a special interest in NMD

· Muscle and nerve pathologist with a special interest in NMD

· Orthopaedic and Spinal surgeons with a special interest in NMD

· Orthotist

· Dietician with a special interest in NMD

· Neuromuscular speech and language therapist

Preliminary evidence from a study in progress at the Newcastle Centre in England (highlighted below) has established the benefits for patients of the specialist multi-disciplinary care model.

Appendix 2

MDC Survey of Local Health Boards in Wales

Introduction

The purpose of the survey was to identify which areas in Wales's commission specialist muscle clinics for children and adults with neuromuscular conditions.

Method

In December 2007, the Muscular Dystrophy Campaign contacted by email 22 Local Health Boards in Wales and under the Freedom of Information Act asked the following questions:

· Does your Local Health Board currently support a muscle clinic that offers a comprehensive service to (a) children and (b) adults with a neuromuscular condition?

· If you do support a muscle clinic for children and/or adults, where is the clinic located and who is the lead clinician/Head of service?

· If patients are referred out of the local area, I would be grateful if you could indicate this and provide details.

Local Health Boards who responded

Out of the 20 LHBs that have so far responded, the following picture has emerged:

· 75% of LHBs who responded do not support a muscle clinic that offers a service to adults with neuromuscular conditions.

· 70% of LHBs who responded do not support a muscle clinic that offers a service to children with neuromuscular conditions.

· 70% of LHBs who responded do not support any adult or child muscle clinics within their area.

Services identified

The following table and graph set out the percentage of responding LHBs who commission a muscle clinic.

It can be said from the evidence submitted by the LHBs that there is limited provision of muscle services in Wales, with a large concentration of the services in the southern regions. Where services are provided, it is often unclear how specialised the service is and patients have to travel long distances within Wales and to London to receive this treatment.

Approximately 50% of the LHBs responded by saying that the Health Commission of Wales should be contacted for information on the services provided.

Health Commission Wales responded to our enquiries with the following information. None of the contracts that HCW has set up contains the level of specification that was requested. There are weekly adult muscular dystrophy clinics in Swansea run by two consultants. Two English centres highlighted were specialised multi-disciplinary muscular dystrophy clinics at Alder Hey Hospital in Liverpool and Oswestry.

The lack of contracts set up with the level of specification sought after is of serious concern. Action is urgently required regarding the paucity of clinics in Wales and the reluctance to commission specialist English services situated close to the Welsh border.

Appendix 3

To: SHA Chief Executives

Date: 4 February 2005

HANDLING CROSS BORDER ISSUES BETWEEN ENGLAND AND WALES

P.2

Arrangements for Secondary Care Service Providers

Welsh providers are required to work to the standards and targets that are set out by the Welsh Assembly Government for all patients who they see and treat. This means that patients from GPs in England who choose assessment/treatment in Wales will be seen/treated within the maximum waiting time targets of the NHS in Wales. These patients will be reported in the commissioner data-sets of the English NHS but the Healthcare Commission have agreed that any breaches of the maximum waiting time in England will not be considered as part of the performance ratings if there is a clear record that the patient has been offered an alternative appointment/admission that is within the English maximum waiting time.

English providers are required to work to the standards and targets that are set out by the Department of Health for patients that are the responsibility of English commissioners. Welsh commissioners will commission work from English providers for patients that they are responsible for so as to ensure that clinical priorities are met and that Welsh maximum waiting times for patients are delivered. These patients will be reported in the English provider datasets but will be separately identified and the Healthcare Commission have agreed that any breaches of the English maximum waiting times by patients who have been referred by a Welsh GP will not be included in the Trust's performance rating.

March 2008

[i] Drachman DB, Toyka KV and Myer E. Prednisone in Duchenne muscular dystrophy. Lancet 1974; 2:1409-1412 and subsequent studies by inter alia Dubrovsky et al (1998) and Manzur et al (2004)

[ii] Annane D, Chevrolet JC et al. Nocturnal ventilation for chronic hypoventilation in patients with neuromuscular and chest wall disorders. The Cochrane Database Issue of Systematic Reviews 2000, 1. Art. No CD001941;

Vianello A, Bevilacqua M, Salvador V, Cardaioli C and Vincenti E. Long-term nasal intermittent positive pressure ventilation in advanced Duc

henne muscular dystrophy. Chest 1994; 105:445-448;

Simonds AK, Muntoni F, Heather S and Fielding S. Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Thorax 1998; 53:949-952.