Viewpoint: Clear referral pathways needed for people with rare conditions

Patients with rare conditions may be at risk of losing out under CCGs, writes GP Dr Stephen Meech, whose son has the rare neuromuscular condition Duchenne muscular dystrophy

Dr Meech: 'It is vital that NHS England communicates with CCGs effectively on care needed by rare disease patients.'
Dr Meech: 'It is vital that NHS England communicates with CCGs effectively on care needed by rare disease patients.'

1 April marked a dramatic shift in the way that healthcare will be delivered. For conditions such as Duchenne muscular dystrophy, which affects my son, effectively managing the progression of the condition is key.

For many patients and families with rare conditions requiring specialist support from a multi-disciplinary team of professionals, the outlook remains uncertain.

Duchenne muscular dystrophy is a life-shortening muscle-wasting condition that causes muscles to weaken and waste or hypertrophy over time, leading to increasingly severe disability. About 100 boys with Duchenne muscular dystrophy are born in the UK each year. The condition affects not only the muscles in the limbs, but also those of the heart and lungs, leading to life-threatening complications.

Planning ahead through ‘anticipatory care’ can help to slow down the progression of a muscle wasting illness. Specialist neuromuscular physiotherapy and regular hydrotherapy can, for example, keep boys on their feet for longer. This can hugely benefit their independence and quality of life as well as long-term respiratory function

As the NHS regional set-up changes, responsibility for these specialised services looks set to be shared between CCGs, hospital trusts and the local area teams of NHS England.

Although the new CCGs are involving GPs more closely with local commissioning arrangements, there will tend to be a focus on more commonly occurring conditions such as diabetes, heart and respiratory diseases. Patients with rare conditions may be at risk of losing out when it comes to services like specialist physiotherapy, orthotics and wheelchair provision. A child with Duchenne muscular dystrophy needs specialist physiotherapy delivered locally so there needs to be close liaison between local community teams and specialists to avoid the risk of a ‘one size fits all’ approach.

There are 6,000 different types of rare diseases affecting around 3.5 million people in the UK. The lack of detail about how healthcare for people with rare conditions will be provided has left some patients and families in limbo, as they try to get to grips with who will be responsible for services in the future.

60,000 of these patients in England have a form of muscular dystrophy or a related neuromuscular condition - and each type differs in its clinical course, with some being more severe than others.

This underlines the need for local service providers and GPs to make use of the knowledge and expertise from the specialist centres which focus on rare, muscle wasting conditions.

GPs may go their whole career without treating someone with a neuromuscular condition, and few have an in-depth knowledge of more than a handful of rare conditions. This often means that GPs and other primary care professionals struggle to find accurate information for patients and frequently struggle to offer treatments.

Survey results

The Muscular Dystrophy Campaign’s recently published State of the Nation survey of 650 patients, reported that:

 * 1 in 5 patients said their GP had offered inaccurate advice in the previous year; with 45% of patients saying that their GP does not understand their condition well enough to plan local care

* Over one third of patients had their condition misdiagnosed, with almost 20% waiting five years or more for an accurate diagnosis

* Over a quarter of respondents were forced to wait more than a year to see a specialist consultant – with some forced to wait several years

Symptoms of neuromuscular conditions can range from late walking, difficulty running and jumping to general muscular weakness.


GPs need openness and willingness to listen to patient and parental concerns and ensure timely access to specialist support if required when a child or adult presents with unusual symptoms. Nutritional status and respiratory function should be monitored. When respiratory function deteriorates acutely or chronically, referral for ventilatory support may be needed.

With any progressive disease it's important to be aware of the emotional effects the condition can have. Referring patients and families to support groups, organisations, occupational therapists and social services can help many come to terms with and manage their situation.

Clear referral pathways are needed for people with rare conditions and it is vital that NHS England communicates with CCGs effectively on care needed by rare disease patients. Failure to emphasise the necessity of specialist care could result in an increasing 'postcode lottery' for local services for rare-disease patients. On the other hand, the new healthcare changes provide opportunities for CCGs to improve the local holistic care available, with closer working with the charitable and voluntary sectors, improved signposting, joined-up care, and better communications between healthcare providers.

Finally, GPs should be encouraged to have open dialogue with neuromuscular specialists, local and regional NHS commissioners and with people affected by neuromuscular conditions so that the early warning signs of conditions are picked up sooner and appropriate care and support arrangements are put in place locally.

* Dr Stephen Meech is a practising GP from Kent and partner at The Mote Medical Practice, Maidstone.

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