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Medics 4 Rare Diseases: reframing rare disease – one Instagram story at a time

It is outright impossible for all doctors to have knowledge of more than 7,000 recognised rare diseases.1 However, it is feasible for all medical professionals to learn when to suspect a rare disease, to appreciate that rare diseases are collectively common and to recognise the exceptional challenges faced by those affected

By Melissa Clasen, training and education officer at Medics 4 Rare Diseases

Tackling the diagnostic odyssey

Rare diseases have been a health priority in the UK and across the globe for many years now. With the acceleration of genetic and genomic technology, our power to diagnose and treat some of these conditions has vastly accelerated in the last twenty years. However, the accepted approach to medical education on rare disease has evolved very little in that time. One of the greatest challenges for the rare disease community is that medical professionals lack awareness of rare conditions.2

  • A rare disease is one that affects fewer than 1 in 2,000 people.2
  • Approximately 80% of rare conditions have a genetic origin and approximately 70% present exclusively in childhood.3
  • An estimated 3.5 million people in the UK live with a rare condition.
  • The average time to a diagnosis is 4–6 years.

That lack of understanding greatly contributes to the “diagnostic odyssey”, a term coined by the community to describe patients’ search for a diagnosis—often an arduous physical and psychological journey—that lasts, on average, four to six years. In a recent poll of 54 GPs, only 11 (22%) could accurately define a rare disease, while 7 (14%) thought that the cut-off for a disease being considered rare was less than 1 in 2 million.4

The root of the problem is the quality and quantity of rare disease education that is available to medical professionals. When individual rare conditions are touched on in university lecture halls, there is often a biomedical focus, rather than the holistic focus that is important when treating patients with rare conditions.

  • The majority of rare conditions are lifelong and affect multiple organ systems.
  • Following diagnosis patients often have to become their own care coordinators because of the uncertainties of those involved in their multi-disciplinary care.5

Medics 4 Rare Diseases (M4RD) is a registered charity that provides training and education for medical professionals, empowering them to reduce the diagnostic odyssey and improve the patient experience.

Have YOU heard of M4RD Mystery Monday?

M4RD Mystery Monday harnesses the power of social media so that medical students and professionals can learn about rare conditions from experts—the individuals who are affected and the patient organisations who are supporting them. 

We focus on a different rare condition every Monday with a poll question on Instagram, asking if our followers have heard of it. We then add bite-sized information to the Instagram story throughout the day. The information has a clinical focus, including information about signs and symptoms, affected people and diagnostic red flags. There are also links to patient support groups and condition-specific organisations that can give further information.

  • In 2022, we featured 34 different rare conditions. We received over 650 poll votes and had over 3,750 story views.
  • 100% of participating organisations agreed that taking part in #M4RDMysteryMonday was useful to increase rare disease awareness.
  • Over 33% noticed increased social media interest or growth in the number of medics with a rare disease interest following them.
  • We were also able to recruit potential trustees for organisations from our M4RD-qualified clinical ambassador cohort and shout about awareness days and conference days.

Feedback from the organisations and charities that we featured on Instagram showed that we successfully conveyed key information about rare conditions to medics. We not only shared information about how specific disabilities affect individuals, using up-to-date statistics, but also shared specific guidance on how to spot the signs and symptoms of these conditions.

Medics felt that we conveyed the importance and clinical benefit of reaching a diagnosis sooner, as well as the impact and vital importance of rare disease awareness in accident and emergency departments. Respondents unanimously agreed that the #M4RDMysteryMonday Instagram story met the educational needs of medical students and healthcare professionals.

Would you like to be featured in an M4RD Mystery Monday?

M4RD wants medical professionals to be working in partnership with their rare patients and patient advocacy organisations. Sadly, medics are often unaware of the valuable resources that are created by patient advocacy organisations. Signposting to these is a crucial part of upskilling the workforce, and we always include the voice of a patient or patient advocacy organisation in our educational content.

Working with patients and patient advocacy organisations, M4RD aims to reframe rare disease for all medics—demonstrating why rare disease is relevant to their clinical careers, irrespective of their specialty.

If you or your organisation would like to be part of reframing rare disease and increasing access to education, please do get in touch. Email us at info@m4rd.org and we will provide you with a short online form to which you can add the information, images and even videos you wish us to include. You can see previous examples of our Mystery Monday stories by viewing the highlights on our Instagram page: @Medics4RareDiseases.


References:

[1] Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 28, 165–173 (2020). https://doi.org/10.1038/s41431-019-0508-0

[2] European Commission – European Commission. (2020). Rare diseases. [online] Available at: https://ec.europa.eu/info/research-and-innovation/research-area/health/rare-diseases_en [Accessed 27 Jan. 2020].

[3] Inferred from OMIM.org and orpha.net databases. Genetic conditions refers to single gene disorders and chromosomal abnormalities.

[4] Royal College of General Practitioners. Unpublished poll data from event with M4RD. 2020. Data available from Lucy McKay on request lucy@m4rd.org

[5] Rare Disease UK (2019). Illuminating the Rare Reality. [online] London: Genetic Alliance UK. Available at: https://www.raredisease.org.uk/wp-content/uploads/sites/7/2019/02/Illuminating-the-rare-reality-2019.pdf [Accessed 27 Jan. 2020].


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