1 in 17 people will be affected by a rare condition at some point in their lives. The average patient receives THREE misdiagnoses, consults with FIVE doctors and waits FOUR years before receiving a diagnosis. Some people have to wait over 20 years to receive a final diagnosis.
We work with our membership organisations and senior decision makers in the NHS, the Government and Parliaments in Westminster, Holyrood and the Senedd to ensure rare conditions can be diagnosed faster and care for people living with rare conditions is better coordinated. We make sure the voices and needs of the rare community are heard and reflected in rare disease legislation and healthcare policy.
Like many charities, our donations have been significantly impacted by the cost of living crisis. We urgently need your support to continue our vital work. If you can, please donate or host a fundraiser to support our work, or simply share this campaign so it reaches more people.
One of our key stategy areas is promoting opportunities to expand newborn and population screening in line with international best practice. The newborn bloodspot ‘heel prick’ test given to every newborn baby in the UK currently screens for a maximum of nine conditions, but 15+ European countries screen for 20 conditions or more. Portia Thorman, Spinal Muscular Atrophy (SMA) UK advocacy lead and mother of Ezra who lives with SMA, shares her story in this ITN business film, and discusses the powerful impact that expanding screening could have.
It’s absolutely crazy that we don’t have newborn screening [for SMA] in the UK. If we can find kids like Ezra when they’re just born, and get this new drug into them then our lives would be completely different. I think about it a lot, and it just feels completely unfair.
Walk, cycle or push 17 miles, set yourself a reading challenge of 17 books or host a 1 in 17 bake sale. Complete it in one go, spread it across a month or take on the challenge every month for a year!
Champion timely diagnosis and coordinated care for people living with rare conditions;
Provide a strong voice for the rare and genetic community;
Ensure scientific breakthroughs in genomics drive better research and services, and;
Promote opportunities to expand newborn and population screening in line with international best practice.
Rare Disease UK is a campaign run by Genetic Alliance UK, the national charity of over 230 patient organisations, supporting all those affected by genetic and rare conditions.
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