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​Autumn 2016 RARE Education

A rare disease education

revolution for health care 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 London School of Medicine and spent time working in peadiatric healthcare where she acknowledged a gap in training and awareness amongst healthcare professionals. We spoke to Lucy about what is needed to deliver the Rare Disease Framework’s priority of health care professionals’ education.

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

It is fundamental. I don’t see why there should be an area of medicine that is neglected on such a large scale. The rare disease strategy in 2013 says that rare diseases are taught about in medical school, 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 but this needs to change so that patients are getting a good standard of care and professionals feel able to say, ‘I’m listening, I don’t know about this particular disease, but what are your problems? Which ones can I do something about? 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 them to be able to decide the top level of care, but they should be able to understand what that means for the patient and what their next steps are. Rare isease education should be just as fundamental as all other areas. 

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

CurrentlyNow, the patient experience and outcomes suggest that they don’t feel supported consistently. 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, their carers, family planning, support, mental health support, that is 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 might not be giving the 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 transition stage. Let’s catch up, see how you’re feeling.’ 

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

I think there is a lack of basic understanding of rare diseases in everyday medicine and the hierarchical structure in which the healthcare industry functions has created a barrier between HCP’s and the patients. When it comes to rare disease treatment a different approach is needed because the patient, they’re treating is likely to be the expert in their condition. If a healthcare professional enters the consultations, with the aim to problem-solve, unless they are the diagnostic specialists or, the treating specialists, they’re likely to fail. Whereas, if healthcare professionals are trained to approach people and families with potentially undiagnosed underlying rare conditions or symptoms in a way where they are listening to the patient first the patient will feel supported and heard and be able to give valuable insights. 

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 this is our mission to educate and raise awareness of the need for healthcare professionals to be better equipped to manage patients with rare conditions. 

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

In my opinion, the second priority of healthcare professional awareness or health care professional upskilling isn’t a priority of its own, it must underpin the other three priorities. It is the key to the entire framework. Without the education of healthcare professionals, the others will not be carried out successfully.  I think to deliver the framework, the department of health needs to know what’s the rare disease landscape looks like right now. Currently, most of our patient experience isn data that isn’t collected in a systematic way, and often underrepresented communities, the youth community, or BAME community are left out. The National Disease Registry service that iswas being put in place needs to be implemented faster so they can understand what the patient experience is and what patients need. 

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

This comes down to the medical governing bodies, for example, the general medical council, it is up to them to set the standard to which training adheres and to include rare diseases in their educational curricula this will lay the foundation of general rare disease knowledge for the rest of the student’s careers. The individual training institutions also need to take responsibility. If you are a specialist unit you don’t need to put on training for one specific condition you could take part in our 101 rare disease training for a general overview. 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.’ 

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