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A rare disease education revolution for healthcare professionals

Dr Lucy McKay is the CEO of Medics4RareDiseases, the UK-based charity, “driving an attitude change towards rare diseases amongst medical students and doctors in order to reduce the diagnostic odyssey and improve the patient experience.” Lucy’s passion for supporting the rare disease community stemmed from growing up in a family that had suffered the devastating loss of a child to a rare disease.

Lucy trained at Barts and The London School of Medicine and Dentistry and spent time working in paediatric healthcare where she experienced a gap in training and awareness amongst healthcare professionals. We spoke to Lucy about what is needed to deliver the UK Rare Diseases Framework’s priority of healthcare professionals’ awareness.

Q. How important do you feel rare disease education is for healthcare professionals? 

It is fundamental. I don’t see why there should be an area of medicine that is neglected on such a large scale within medical education especially as we know 1 in 17 people will be affected by a rare disease in their lifetime. The rare disease strategy in 2013 says that rare diseases are taught about in medical school.

Lucy McKay

The reality of that is handfuls of rare diseases are cherry-picked and they’re taught based on a biomedical model; they are hardly ever taught from the patient’s point of view. This needs to change so that patients receive a good standard of care and professionals feel able to say to their patients “I’m listening. I don’t know about this particular disease, but I am aware of the challenges of living with a rare condition” And to think “What role can I play in this patient’s management and where can I go to get advice?” We do this for all sorts of conditions but seem to drop the ball as soon as people hear ‘rare’. No one’s expecting every doctor to be able to decide the top level of care, but they should be able to understand what having a rare disease means for the patient and what role they play in the care of people living with rare, undiagnosed and genetic conditions. Rare disease education should be just as fundamental as all other areas of medicine. 

​The reality of that is handfuls of rare diseases are cherry-picked and they’re taught based on a biomedical model; they are hardly ever taught from the patient’s point of view

 Q. How can the education of healthcare professionals around rare diseases benefit the undiagnosed and diagnosed patient community?

I’d like to see that every healthcare professional plays their role; their role is unlikely to be prescribing a brand-new multimillion-pound drug, but it might be saying, “it’s been a while since we’ve seen you, you’re coming up to the transition of care stage.

Currently, the patient experience data suggests that those living with rare conditions don’t feel supported consistently and there’s a lot of variation across geographical areas, disease and communities. What we need to see in place is that a patient can expect a timely diagnosis, with a good standard of basic care that includes care for their family and their carers, family planning support and mental health support, backed up by patient advocacy and specialist care with excellent coordinated communication. I’d like to see that every healthcare professional plays their role; their role is unlikely to be prescribing a brand-new multimillion-pound drug, but it might be saying, “it’s been a while since we’ve seen you, you’re coming up to the transition of care stage. Let’s catch up, see how you’re feeling. Or “how are you feeling? Living with a rare condition has been shown to exacerbate mental health problems, do you feel this is happening to you? Would you like any support for looking after your mental health?” 

Q. What are the barriers to healthcare professionals being educated around rare diseases?

I think there is a lack of basic understanding of the relevance of rare disease in everyday medicine, and the historically hierarchical nature of healthcare can create an unhelpful barrier between HCPs and patients. When it comes to rare disease management, a different approach is needed because the patient is likely to be more of an expert in their condition than the HCP. If a healthcare professional enters the consultation with the aim to problem-solve, unless they are the diagnostic or treating specialists, they’re likely to fail.  Healthcare professional training should prepare them to use a different approach when faced with their rare patients that is truly patient-centred and involves actively listening to the patient and family first and foremost, then understanding their particular role in the patient’s management and working with them in equal partnership.

Q. Do you feel enough is being done in the healthcare setting to make newly qualified professionals aware of rare diseases? What can be done to deliver the Rare Disease Framework’s priority of educating healthcare professionals?

Not at present. There is so much more that can be done and while we’ve seen incredible strides in diagnostic and therapeutic innovation, mandatory training for HCPs on rare disease remains unheard of. This is despite this same issue being highlighted by the strategy in 2013.  

The Framework has four priorities:

1. helping patients get a final diagnosis faster
2. increasing awareness of rare diseases among healthcare professionals
3. better coordination of care
4. improving access to specialist care, treatments and drugs​

Without the education of healthcare professionals, the other progress on the other priorities cannot be fully realised.

In my opinion, the second priority of healthcare professional awareness can’t be considered separately: it underpins the other three priorities. It is the key to unlocking the entire framework. Without the education of healthcare professionals, the other progress on the other priorities cannot be fully realised. To demonstrate successful delivery of the framework the Department of Health and its delivery partners need to know what the rare disease landscape looks like right now. Therefore, a rare disease training needs assessment for HCPs is needed to understand the current level of “awareness”. At the moment our understanding of “awareness” is based on patient experience reports. And -currently, most of our patient experience data isn’t collected in a systematic way, and often, communities such as the youth community or BAME communities are underrepresented. The National Disease Registration Service is the perfect mechanism with which to systematically collect patient experience data, including experiences with HCPs, as demonstrated by similar surveys in the field of cancer. 

Q. Where do you think the responsibility lies for ensuring student healthcare professionals across the UK are trained and educated about rare diseases before they are qualified? 

While M4RD encourages individual HCPs to provide the best care for their rare disease patients, it is essential that HCP governing bodies, training institutions and the NHS systems themselves lead from the top by putting training and care pathways in place. The UK Rare Diseases Framework goes to show that we’re moving in the right direction and while progress may feel slow it’s definitely happening. Rare disease is on the HCP educational agenda more and more. M4RD has created disease-agnostic rare disease education that is aimed at medics of all training levels and is relevant to all HCPs. This is called Rare Disease 101 and it is showing that you can teach about rare diseases without going into detail about 7000 rare diseases. There is an opportunity now to come together as medical professionals and people affected by rare conditions and say, “here is the problem but now we have a solution, and we have a responsibility to fix it.”

​These links are to third party, non-Alexion websites:

About M4RD: Medics4RareDiseases is a charity registered in England and Wales. The team would like to acknowledge and thank the companies who have sponsored the M4RD 2021 workplan: Alexion, Amicus Therapeutics, Biomarin, Bionical Emas, Freeline, Illumina, PTC Therapeutics, Sarepta Therapeutics and SOBI. All funding received is used for achieving the objects of Medics4RareDiseases. M4RD operates entirely independently from these companies and they have no editorial control over M4RD’s contents or activities.


​ Charity Perspective – Stevie Tyler, Chief Executive Officer – The Aplastic Anaemia Trust

‘The Aplastic Anaemia Trust fully supports the need for a better understanding of rare diseases amongst healthcare professionals and believes in the importance of access to educational tools to achieve this. As the only UK wide charity representing the needs of people with aplastic anaemia, we hear regularly from people who struggle getting the speedy diagnosis and treatment they need. Part of our work in 2022 will be on developing supportive tools and training for clinicians and healthcare staff, co-designed with our community, to help tackle the priorities outlined in the Rare Disease strategy. We believe collaboration like this will help start to address some of the issues people like those in our community face.’

Stevie Tyler

The aplastic anaemia trust’s mission is to enable vital research into the causes of aplastic anaemia and other rare bone marrow failures that ultimately leads to finding a cure, and to support everyone affected by them, so they can lead healthy and fulfilling lives.

Date of preparation: August 2021
​Document number: UK/NP/0011

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