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Medics 4 Rare Diseases: We need services to diagnose people earlier so they can have access to treatments

Dr Lucy McKay is the Chief Executive of Medics 4 Rare Diseases, an organisation dedicated to teaching healthcare professionals about rare disease. Talking about how the pandemic affected the rare community, Lucy explains how training for healthcare professionals can help to unlock the potential of the Rare Disease Framework, while also stressing the importance of screening and access to treatments.

I think the pandemic really galvanised the rare disease community, because suddenly, all over, people were experiencing what those with rare conditions experience every day – a lack of information, a lack of certainty. Never knowing the best way to determine if you’ve got a condition. Not having an available treatment and fearing what might happen next.

People with rare diseases often felt the brunt of the pandemic, losing key services, compounding diagnostic delays, the stopping of clinical trials, and the lack of access to treatment. While everyone suffered because of the pandemic, many in the rare disease community suffered more than most.

Patient advocacy had to step up and start raising concerns for the rare disease community. We were in a sort of privileged position - we had always run on skeleton teams mostly working from home. When everything else fell apart for rare disease, it was individuals at kitchen tables from patient groups who kept families going.

And Medics 4 Rare Diseases had to play its role. We started looking at how COVID and the pandemic had impacted rare disease. Out of this, we suggested three areas to concentrate on: diagnostic delay, the lack of co-ordinated care, and access to treatment and research - but particularly research, because of how trials and research had been impacted.

In January 2021, the Rare Disease Framework was finally published and it too highlighted those three priorities, as well as the importance of awareness amongst healthcare professionals, the very thing that Medics 4 Rare Diseases was created for.

I released a blog shortly after the publication of the framework called Priority 2 – the key to unlocking the Rare Disease Framework, talking about how everything else will rely on that awareness of the relevance of rare disease to healthcare professionals within the NHS.

We also launched Rare Disease 101 which is a free-to-take module about rare disease, the absolute basics that any healthcare professional should know, and it teaches about over 7000 rare diseases without teaching about a single rare disease.

We put on 15 training events last year, mostly in paediatric settings, we can provide them online or in person, and we’ve developed a Rare Disease 101 course and a ‘train the trainer’ course so that we can teach our ambassadors how to provide Rare Disease 101 training to their peers and their departments.

We now have the same concept for a module for Australia. All over the world, the rare disease community is facing similar challenges, regardless of the research or treatment that is available. The lack of understanding in healthcare systems costs patients good care and quality management.

A major part of Rare Disease 101 training is about research and scoping research into your management plans for a patient. We need every person with a rare condition to have at least the opportunity to participate in research.

Access is also really important. And I don’t just mean access in terms of ‘is the drug going to be licenced, reimbursed, and available everywhere’, but ‘is this person going to get this drug in a timely manner?’

Innovation has outstripped education for a very long time, and we need to help education catch up.

For example, we have a genomics medicine service now, which can help end the diagnostic odyssey that patients face, but are people getting referred? Do healthcare professionals know what’s available?

And once the patient gets into that service, are they getting a timely appointment? Are they getting timely testing and are their results being delivered in a timely manner? Because that is still access. If you have a life-changing drug, you shouldn’t be experiencing the diagnostic odyssey in the first place if a condition can be tested for in screening at birth. Despite more and more rare genetic conditions having treatments, we’re still stagnating when it comes to newborn screening.

The Rare Disease Framework might talk about four priorities, but those four priorities are all part of one person’s experience and we need to be joining the dots. We’re finding more and more that there is hope for treatments for rare diseases, but we need services to care enough about that to diagnose people earlier so they can have access to those treatments.

  • Rare diseases

Last modified: 20 September 2023

Last reviewed: 20 September 2023