The UK Rare Diseases Framework – New hope, or same-old, same-old?


A blog post by our Trustee and CEO of Ataxia UK, Sue Millman

In general, most neurological services for people with ataxia haven’t fared well during the Covid-19 pandemic, and it’s the same right across neurology. Most face-to-face outpatients’ clinics have been cancelled, or changed to telephone appointments or virtual consultations – with serious consequences for some patients and delays for almost everyone. Many involved with rare neurological conditions are now concerned at whether neurology services will re-emerge as strong from the pandemic as they went into it – or will they be weakened with a long road to recovery?

It was against this back drop that the UK Rare Diseases Framework was launched on 9th January this year. It’s been widely welcomed by rare disease patient groups, politicians (in so far as they have noticed), health care professionals and pharma; but will it provoke more progress than its sluggardly predecessor, the UK Strategy for Rare Diseases.

Its four overarching ambitions have unquestionable merits, embracing every aspect of diagnosis, treatment and care for rare diseases:

  • To help patients get a final diagnosis faster
  • To increase awareness of rare disease among healthcare professionals
  • To support better coordination of care
  • To improve access to specialist care, treatment and drugs

And their five ‘underpinning themes’ also chime with the aspirations of most rare disease charities: patient voice; national and international collaboration; pioneering research; digital, data and technology; wider policy alignment.

But as the UK Strategy for Rare Diseases demonstrated, high ambitions aren’t always delivered – in particular in England, where NHS England and the Department of Health and Social care didn’t see eye to eye sufficiently to produce one implementation plan; but one each. We have been promised it will be different this time.

I fear the backdrop of the pandemic will inevitably get in the way of the target to produce an action plan by the end of this year, particularly if the commitment that ‘action plans will be developed in close collaboration with the rare diseases community’ is properly honoured. The prolonged absence of an action plan could produce ‘planning blight’, or even prevent the restoration of services, whilst we wait for a delayed action.

What should be in the action plan? Have a look at Out of the Shadows: what needs to change for people with rare neurological conditions which demonstrates the voice the Neurological Alliance can give to rare neurological conditions. Charities working with these conditions are a significant sub-set of the Neurological Alliance’s membership. I’ve found through us working in collaboration, that what people with ataxia want is broadly similar to what most rare disease patients want: straightforward routes to timely diagnosis; prompt access to appropriate treatment and support; clinics and services which are joined up, co-ordinated and arranged to minimise visits; and clear communications from the professionals involved who understand the condition they are dealing with. So the Framework is starting in the right place.

As a member of the Neurological Alliance Board, and also a Trustee of Genetic Alliance/Rare Disease UK, I’m delighted to see their increasing collaboration over the last few years. Together we must press for an action plan that delivers on the high ambitions of the Framework. People affected by Rare Diseases deserve no less.

Sue Millman CEO Ataxia UK