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Rare Diseases February 2019

Time to refresh our approach to rare diseases


Dr Jane Spink

Chief Executive, Genetic Alliance UK and Chair, Rare Disease UK

One in 17 people will be affected by a rare disease at some point in their lifetime.

At this moment, it is estimated that there are more people in the UK living with a rare disease than there are seniors living with dementia.

This statistic may seem puzzling – until you reflect that, while individual rare diseases affect relatively small numbers of people, there are more than 6,000 rare diseases that will affect 3.5 million UK citizens. Lack of awareness of rare diseases has created an unmet health need on a scale larger than that for any individual common condition. It has starved rare disease research of funds and isolated patients and families, depriving them of access to information and support and access to speedy diagnosis, coordinated care and effective treatments.

This year, as Rare Disease UK campaign marks its 10th year, we are reflecting on a decade of progress that has grown out of, and been sustained by, increasing awareness. From a handful of voluntary groups, the campaign has grown to a community of over 300 organisations.

Patients’ involvement boosts understanding of rare diseases

Rare disease patients are using their voices to bring about change; making vital and positive contributions to developments in research, policy and delivery of care. We now know more about the common issues faced by those with rare diseases. We know too, that for the majority of rare diseases, there remains much we need to improve.

More funding is needed for rare disease research

Rare disease research continues to claim a disproportionately small slice of the research funding pie. There are fewer than 200 proven medicines to treat rare diseases, only half of which are routinely available on the NHS. The NHS offers fewer than 100 specialised services tailored to the needs of patients diagnosed with specific rare diseases.

Genome medicine can improve personalisation of treatments

With the advent of genomic medicine and the technological strides being made in research into treatments, there is the true prospect of transforming the experience of healthcare for rare disease patients. This transformation will be a critical component in the delivery of a 21st century NHS with its promised focus on greater personalisation and prevention of declining health.

We can only truly achieve this transformation through raising awareness of rare diseases among the public, professionals, politicians, policy-makers and funders. A review and refresh of the UK Strategy for Rare Diseases – innovative on publication in 2013, but now rendered moribund in the face of progress and change – will be key.

Rare Disease Day celebrates what has been achieved so far

History teaches us that the most noticeable problems are the ones that are likely to be addressed – or to put it another way that, ‘the squeaky wheel gets the oil’. Rare Disease Day is a day when we celebrate the progress we have made and campaign for the reforms that have yet to be made – the day when the voice of our community is heard across the world.

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