Getting it right for patients with rare neurological conditions

September 23rd 2015 category Commissioning Excellence

September 25th is Ataxia Awareness Day and the whole of September is Charcot-Marie-Tooth disease (CMT) awareness month. Both are relatively uncommon neurological conditions, affecting roughly 8,000 and 20,000 people in England respectively.

CCGs may well overlook these conditions, however it is important for commissioners to acknowledge rare neurological diseases because collectively patients with neurological problems like these face similar challenges and have many of the same needs which are often not being adequately met.

One of the biggest issues with rare conditions are problems getting a timely diagnosis and therefore access to the right treatment. Both ataxia and CMT are umbrella terms for a group of different disorders, which means that GPs are invariably unfamiliar with an individual patient’s condition and may struggle to identify what is wrong and make the correct referral to the most appropriate specialist. Both conditions also often have a large overlap with the symptoms of other more common neurological conditions, which alongside lack of awareness can complicate things further and delay diagnosis even once a patient has reached the neurology department.

CMT is very often considered to be a ‘hidden disability’. It is a group of inherited progressive disorders affecting the peripheral nerves, the main effects being muscle weakness and numbness in the legs, feet and hands, an awkward gait, and highly arched or very flat feet. The ataxias affect also walking, as well as speech and movement. The spectrum of both conditions however is very broad and so each person has their own individual needs.

Both CMT and ataxia can make everyday activities, especially manual ones, extremely difficult. Additionally patients may also experience fatigue, balance issues, increasing mobility issues, and pain – and so need a lot of support to manage their needs in order to live a full and productive life. Good management is essential in order to address these issues, and while there may be no cure, physiotherapy, exercise, occupational therapy and walking aids are aimed at improving mobility and increase independence and quality of life.

Because of the varied and complex nature of these conditions, the multiple difficulties that patients face require the input of a joined-up multidisciplinary team (MDT). A well-coordinated team of physiotherapists, occupational therapists, speech and language therapists and other allied health professionals can offer huge benefits to patients, as well as helping to deliver care efficiently. Unfortunately however many medical professionals are often not aware of the services available to those with rarer conditions like CMT and ataxia, and furthermore patients are not signposted to key areas of support that voluntary organisations for example may offer. These challenges with getting the right diagnosis, treatment and support can often leave people with rare conditions to feel desperate and isolated.

It is also important to note the other types of services that these patients may need to use. For example, orthopaedic problems may need to be addressed by a surgeon. And since CMT and hereditary ataxias (such as Friedreich’s ataxia) are caused by an inherited genetic fault, this means that genetic counselling and testing are important services for affected patients and their families. So the MDT must consist of a raft of different professionals to adequately meet patient needs.

Unfortunately difficulties often arise for patients where general health monitoring is concerned. Due to the complexity of rare neurological conditions like ataxia and CMT patients often find that symptoms of other medical issues may be overlooked because they are attributed to their neurological condition. This can delay prompt treatment of other health issues, and really underlines the importance of professional training in managing these patients.

While a small number of specialist centres in England provide excellent care, the picture across the rest of the country is not so good. The Neurological Alliance’s survey of just under 7,000 people with neurological conditions found that 58% have experienced difficulties accessing the services and support that they require, while almost 40% wait over a year for a diagnosis. These figures are no doubt mirrored by people with CMT and ataxia, and hopefully provide the wake up call to commissioners that is sorely needed.

Together people with rare neurological conditions add up to a large number of patients who need many of the same things, some of which comes down to simply joining services up better. CCGs should be addressing this group of patients as a priority, which would deliver benefits all patients with complex needs, as well as helping to make much needed spending efficiencies in the NHS.

About the Author

Sue Thomas

Sue Thomas

Chief Executive for Commissioning Excellence
View more posts by Sue Thomas

September 23rd 2015 category Commissioning Excellence

Commissioning Excellence

As one of NHS England’s recognised niche specialist commissioning support providers, we offer a full range services to assist you in improving patient outcomes. Our experience covers all long term conditions, with a particular specialism in the field of neurology.

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