The Unusual Suspects 2020 – Rare diseases in everyday medicine

In February 2020, a month before lockdown in the UK, we held our annual symposium at The Royal Society of Medicine for the sixth year. ‘The Unusual Suspects: Rare diseases in everyday medicine’ is the event of the year for medical professionals of all levels to learn why they need to #daretothinkrare.

I wasn’t sure how we were going improve on the 2019 symposium with it’s excellent and varied line up of expert speakers. Plus captivating exhibit by Same But Different! However I think we managed it! Following delegate feedback from 2019 we brought you more practical tips on diagnosing and managing rare diseases, as well as more patient experiences.

As always the lived experience was a big feature of the event as this is, without a doubt, the best educational tool we have. Sarah Lippett’s beautiful exhibit of her drawings from her graphic memoir, ‘A Puff of Smoke’, complimented her talk and helped us to imagine what it’s like to grow up with an undiagnosed condition.

We also had the winner of The Student Voice Prize, Anna-Lucia Koerling, talk about her winning essay on the subject of rare diseases and mental health. One runner up from the 2019 competition flew all the way from Australia to attend (wisely avoiding Beijing).

It was a wonderful afternoon with great speakers, great participants and a great venue thanks to The Medical Genetics Section of The RSM! If you couldn’t make it on the day we have the talks laid out in order for you below so you can pretend you were there with the power of internet and video. All these videos and those from last year’s Unusual Suspects are free to watch in our Video Library.

If you did come on the day and want reminisce – we have a lovely photo gallery for you to browse through. You can fondly look back at times when we could sit next to each other and even hug!

The Talks

Dr Lucy McKay – CEO of M4RD

I kick-started the event with an introduction to M4RD, rare diseases. Rare diseases are individually rare but collectively common. They often have no “home specialty”, impact a person’s entire life and can affect anyone. Therefore it is every medical professionals duty to be able to suspect and manage rare disease.

Dr Will Evans – Rare diseases in general practice

The expert talks started with the return of Will Evans, GP and Chairman of Niemann-Pick UK. The previous year Will gave a talk about rare diseases in general practice and practical tips for how to suspect and manage rare disease. This year he gave an update on his work with Mendelian, a company who are helping doctors identify rare disease patients through digital pattern matching. It’s well worth watching Will’s talk from 2019 and also Rudy Benfredj from Mendelian then this follow up below:

Sarah Lippett – Growing up with an undiagnosed illness

Sarah Lippett, artist and author of ‘A Puff of Smoke’, shared her story of growing up with an undiagnosed illness. Sadly Sarah’s story is a rather classic example of the ‘Diagnostic Odyssey’ – a term that refers to the tortuous journey many patients face over years in pursuit of a diagnosis. Her illustrations tackle difficult moments in her childhood like invasive procedures and debilitating symptoms. But also little moments of joy and the mundane realities of family life. Sarah’s artwork is a reminder that our patients don’t exist just within the clinical setting but have lives to get on with while struggling with chronic illness. We were grateful that Sarah brought part of her Puff of Smoke exhibit for delegates to look at and reflect on in their own time. Check out the pictures in the new gallery at the end of this email.

Dr Richard Scott – Reducing the diagnostic odyssey in rare diseases

Dr Richard Scott from NHS Genomics talked to us about reducing the diagnostic odyssey in rare diseases and revealed lessons learned from the 100K Genomes Project. Richard is a Clinical Geneticist at GOSH (so…pretty specialist) and he explained that the biggest hurdle in diagnosis is right at the beginning – someone recognising that this could be a rare disease. Without this crucial step patients will never get see someone like Richard. Of course, diagnostic work-ups can prove difficult after this point but the technology for diagnosing rare genetic disorders is improving rapidly. Making the the lack of recognition even more crucial to overcome. So remember to #daretothinkrare.

Anna-Lucia Koerling – Medical student winner of Student Voice Essay 2019

Winner of the The Student Voice Prize 2019 essay competition, Anna-Lucia Koeling, described an interaction between herself and a young man with neurofibromatosis type 1. Annie’s essay was beautiful and listening to Annie describe her humbling experience and reflect on it was a real pleasure. Her talk demonstrated so many opportunities for all of us to treat patients more holistically. At the time of the talk Annie was a final year medical student at The University of Cambridge. Now she is a starting her new job as a Foundation Year 1 doctor and we know she will be keeping rare diseases close to her heart throughout her practice. Good luck Annie!

Dr Rick Thompson – Drug repurposing in rare diseases

Dr Rick Thompson, CEO of Findacure, talked about drug repurposing as an exciting, more cost-efficient and speedy way to develop treatments for rare diseases. This is something we have all come to know more about in the past few months thanks to coronavirus. Perhaps furthering this kind of work will help bring more treatments to those with rare diseases.

Dr Alexandra Downes & Karen Harrison – How the lived experience improves clinical practice in rare diseases

Dr Alexandra Downes and Karen Harrison from Alex the Leukodystrophy Charity told the story of how Karen’s talk to paediatric trainees on leukodystrophy improved Alexandra’s clinical practice. Alex was working as the Paediatric SHO on-call when she was called down to A&E to see a patient with deteriorating ALD. She recounts how listening to Karen’s talk just a week before helped her provide what the family needed – empathy and understanding.

Check out the photos from the day!

The photos of the day capture the excellent engagement from delegates and the enthusiasm of the speakers. Living with a rare disease is undoubtedly one of the most challenging cards you can be dealt in life. The speakers didn’t hold back any of the difficult and painful details that it brings. There were tears at times. But you will also see the smiles and laughter because when we’re in the Max-Rayne Auditorium at The RSM it is our chance to make a real difference to those living with rare diseases as well as learning from those who are no longer with us.

Thank you to all our speakers for sharing your knowledge and expertise with us.

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Save the date: The Unusual Suspects 10th February 2021

Thank You to the M4RD2020 Sponsors!

Thank you to the sponsors who made this event possible. To learn more about our sponsors and M4RD work with commercial companies please click here.