12 November 2020


People with rare neurological conditions need a much better deal

A new report by the Neurological Alliance, launched today, is calling for better treatment and care for the 150,000 children and adults living with a rare neurological condition in England.


The hard-hitting report, ‘Out of the Shadows: what needs to change for people with rare neurological conditions includes extensive input from member charities of the Alliance, in addition to expert clinicians. The report points out that while the number of people living with rare neurological conditions equals the number who have other conditions such as some types of cancer, people with rare neurological conditions are all too often left behind when it comes to accessing the care and treatment they need.


In addition, more than 200,000 people with neurological conditions are expected to be waiting for specialist appointments by the end of the year. People with rare neurological conditions risk experiencing further delays and gaps in their support due overstretched services and waiting lists exacerbated by COVID-19.


Specifically, we are calling for:

  • Changed perceptions around rare neurological condition: just because they are complex does not mean they cannot be managed well, says the report. People with rare neurological conditions are entitled to equal access to care and treatment.


  • Speedier access to specialists and a diagnosis: 4 in 10 charities surveyed recently for the report said diagnosis of the people they represent takes, on average, 3-5 years. The report points out that there needs to be greater awareness of rare neurological conditions in primary care, so people are more quickly referred on for a specialist assessment when they have neurological symptoms – and they can benefit more quickly from available treatments and support.


  • Faster access to new treatments: the UK often lags behind other countries in Europe when it comes to approving and funding new treatments for rare neurological conditions. For example, the Batten Disease Family Association told the Alliance in our recent survey: “The NICE process takes literally years of upset and our families don’t have years; two children died waiting to access Brineura.” Spinal Muscular Atrophy UK also told the Alliance “The paediatric roll out of Spinraza has been quite good, but the treatment roll out for adults hasn’t progressed at all well.”


  • Improved mental health support: less than a third of people with rare neurological conditions feel they are getting the mental health care they need according to the Alliance’s 2019 Patient Experience Survey. Again, in our more recent survey of September 2020, all 10 charities who responded reported that the mental health needs of those they represent, were either ‘not being very well met’ or were ‘not being met at all’.


  • As a matter of course, information should be provided to people with rare neurological conditions and/or their families on diagnosis: again, the Alliance’s Patient Experience Survey 2019 found that just a third of people (or families) with rare neurological conditions are provided with written information about their condition at the time of diagnosis to help them understand more about their condition and care choices.


  • High quality social care and home adaptations are not just ‘add on extras’ for those that need them: the report points to recent research by the Motor Neurone Disease Association (MNDA) which found that some people with motor neurone disease do not always receive the home adaptations they need before they pass away, due to lengthy delays in service provision and the cost. People with rare neurological conditions, and their families, need proper well-funded support in the community.


Georgina Carr, Chief Executive of the Neurological Alliance, said:


“Taken together, rare conditions are not that rare at all – 1 in 17 people will be affected by a rare condition at some point in their lives, and it has been estimated that nearly a third of genetic rare conditions are neurological or have neurological symptoms. Yet, poor public awareness and a lack of investment in services for rare conditions has meant that, for too long, people with rare neurological conditions have experienced long waits for a diagnosis, poor care coordination and insufficient information provision.”


“We hope that this report will bring about a sea change in how rare neurological conditions are viewed, both in the medical profession and in wider society. It’s time that rare neurological conditions came out of the shadows.”


The report includes the experiences of a number of people with neurological conditions. Livvy, aged 19, has a rare, undiagnosed neurological condition that leaves her in a wheelchair, needing a feeding tube, and having multiple seizures every day. Bradley’s dad, John, died with progressive supranuclear palsy (PSP) at the age of 62, before we was even diagnosed, despite his mobility deteriorating quickly over just a few years – clinicians were not able to agree on what condition he had. Sam, aged 54, has Huntington’s, another progressive neurological disorder; he also has related mental health problems which have not been successfully addressed and he has been in and out of psychiatric wards. Now, tragically, Sam has terminal cancer.


Amanda Mortensen, mother of Livvy and  Chief Executive of the Batten Disease Family Association (BFDA), said:


“We first had that gut-wrenching sense that she wasn’t developing like her peers when she was around 9 months.” Livvy is now aged 19: “Livvy has been tested for a myriad of conditions that cause her relentless epilepsy, but we still don’t have an answer as to why.”


Amanda added: “We hope the findings of this report will give people with rare neurological conditions a voice, influencing decision-makers as we shape the services of the future post Covid. We represent a multitude of unique conditions, yet our journey has shared challenges and we speak together on the need to improve the diagnostic odyssey, access to treatments, awareness and information.”


Dr Wendy Edwards, PSPA said:


“The launch of the ‘Out of the Shadows’ report has given us a great opportunity to come together as a collective with the Neurological Alliance, to shine a brighter light on the challenges people living with rare neurological conditions such as Progressive Supranuclear Palsy and Cortico- basal Disorder (CBD) face, and the crucial role charities play in providing support and lobbying for more rapid diagnosis and access to co-ordinated care.”


You can read the full report here.