On Wednesday 19 February, emotive were in attendance at this year’s Medics4RareDiseases (M4RD) Annual Symposium, “The Unusual Suspects: Rare Diseases in Everyday Medicine”, held at the Royal Society of Medicine, London. Senior Medical Copywriter Aaron Hall and Account Executive Claire Mitchell tell us more about what was discussed at this year’s event.
A popular event in the rare disease calendar, the M4RD annual symposium welcomes medical professionals, trainees and medical students to come together and explore how to improve rare disease management in the UK.
Opening the meeting, Dr Lucy McKay, CEO of Medics4RareDiseases, welcomed delegates to the eighth national symposium, celebrating the success of the last eight years and sharing the exciting agenda of the day’s meeting. Lucy also announced that, this year, M4RD were able to support medical students from across the UK with travel grants – with medical students from Manchester, Leeds and as far north as Glasgow in attendance.
The first speaker of the day, Dr William Evans, followed on from his talk at last year’s symposium, discussing the management of rare diseases in primary care. Touching on his own practice as a general practitioner (GP), Dr Evans explored the ever-evolving skills required by GPs in identifying rare diseases and being the first point of care for patients. He spoke about the challenges of being faced with the unidentifiable, and the needed openness to using growing online resources, such as Mendelian, and genomic data to transform rare disease identification and lifelong management. He ended his talk with a review of the recent Health Education England GP Survey, and his thoughts on the future within the NHS – highlighting genomic technology, the need for unified electronic patient records and specialist GPs with an interest in genetics, as being key to improving holistic management of patients living with rare diseases.
The next talk was given by Ms Sarah Lippett, author and artist of “A Puff of Smoke”, a moving yet humourous memoir about growing up with an illness that seemingly no one was able to diagnose. Sarah used her own illustrations to tell delegates her story, starting with her bizarre, unexplained symptoms during childhood and the journey she went on with her family to find out what was happening to her. Talking honestly about her doctors, their bedside manner, her schooling and all the things she missed out on in life, Sarah highlighted the importance of compassionate communication and for doctors to think of the bigger picture when managing patients with rare diseases. She spoke about how her experience affected her relationships, education, hobbies and her family, and how few doctors took her formative childhood experiences into account when deciding on management approaches. Sarah’s story ended on a positive note, when at 16 she was admitted to Great Ormond Street Hospital (GOSH) and doctors diagnosed her with the rare disease, Moyamoya. She took delegates through the relief of finding out what was wrong, her subsequent brain surgery and what life is like for her now, as well as her exciting advocacy activities, book launch and recent appearance on Woman’s Hour.
Following a short break, where a selection of Ms Lippett’s artwork was on exhibition, Dr Richard Scott continued the afternoon taking about the diagnostic odyssey – the long, winding road patients take on their journey to discovering their rare disease. As Clinical Lead for Rare Disease at GOSH, Dr Scott explored the history of genetic testing and the cutting-edge research and techniques being applied today, and how they can drastically improve the time to diagnosis of rare diseases. He spoke about the importance of healthcare professionals, both clinical and academic, working together to improve outcomes for patients.
Next was Miss Anna-Lucia Koerling, winner of the Student Voice Prize 2019. Now in its sixth year, the Student Voice Prize is a collaboration between M4RD and Findacure, and asks medical students to “think rare” and consider the role that clinicians have in the patient experience.
Anna-Lucia recounted in her winning essay a meeting with a patient living with neurofibromatosis type 1, and how affected she was by not only the physical aspect of the disease, but by the mental and social toll that this individual was burdened with. She spoke openly about their meeting and how it had made her more attuned to the bigger picture, focusing on the mental health of not only her patient, but their family and support network.
Dr Rick Thompson, CEO of Findacure, followed Anna with a short presentation on Findacure and their mission of creating a future of drug repurposing for the treatment of rare diseases. Dr Thompson reminded delegates of the drug development process, and how significantly research and development had changed over the last 20 years, in terms of process, cost and final delivery of new drugs to market. He looked at the ways we could improve the declining trend in successful drug launches; repurposing existing generics and molecules that didn’t meet the desired endpoints in new studies where it may prove viable. He discussed the benefits of repurposing; an existing element of safety in humans, an understood mechanism of action, long-standing data for generics and the opportunity to fast track through the approval process, and provided case studies of successfully repurposed drugs.
The final talk of the event was delivered by Mrs Karen Harrison and Dr Alexandra Downes. Karen spoke about her experience as a mother of twins living with the rare disease adrenoleukodystrophy (ALD). She described the excruciating first moments of watching her healthy, happy son Alexander develop frightening and unexplained symptoms, and the subsequent 18 months of achieving a diagnosis of ALD, managing his disabling symptoms and his unfortunate passing at the age of 8. As ALD is a genetic disease, Karen discussed how her whole family continued to have their lives turned upside down, with Alexander’s twin, Cameron, also receiving a diagnosis of ALD, and her third newly born son, Glen, fortunately testing negative.
Karen spoke with emotion about her experience, stressing to delegates the importance of holistic familial care and maintaining open communication with families that are living with something most medical professionals will have never seen, or heard of, before. Dr Downes mirrored this, having heard Karen’s story at a previous talk, and just a week later, coming in contact with a patient with ALD, and how her management approach was influenced by what she had heard.
The meeting closed with a question and answer session for all speakers, moderated by Dr Lucy McKay, where delegate questions continued along the clear theme of this year’s event; what can healthcare professionals do to provide the very best care not only for patients with rare diseases but also their families?
Reflecting on the symposium, Aaron was moved by Karen’s story. “Claire and I are part of the team that works closely with Lucy and M4RD as part of our pro bono work at emotive, and this is our second M4RD annual symposium. Hearing Karen talk really drove home why we do what we do at emotive, and it felt like a real moment of clarity for delegates in the room. Everything we had learnt from the speakers throughout the day all came down to this – providing the best care for people, and their families, who are dealing with health conditions that may only recently have been discovered, or may still be entirely unknown.”
Claire spoke glowingly of the symposium: “It was a really inspiring and moving afternoon, and so interesting to hear from the perspective of each speaker to gain a better understanding of how people’s experiences with rare diseases differ. This helps us ensure we can deliver the best we can for patients, their families and HCPs.”
Our work with M4RD
emotive has been working with M4RD since 2018, providing support on several projects in this time. The first was the development of an animation explaining who M4RD are, with calls to action to outline how people can get involved. This was debuted at M4RD’s annual symposium at the Royal Society of Medicine in February 2019 and is now hosted on their website. emotive has also supported M4RD in developing a key sponsorship document as the charity plans for 2020 and beyond. This has included providing guidance on content and creating supporting visuals. More recently, emotive has created infographics for Rare Revolution Magazine, summarising the messages of the charity and feedback from previous events.
Medics4RareDiseases is a registered charity driving an attitude change towards rare diseases amongst medical students and doctors in training. The organisation began as Barts and The London Society for Rare Diseases in 2011 and became a national project in 2013 as Students4RareDiseases with the help of The LSD Collaborative who were awarded the Sanofi Genzyme PAL Award. In 2018, the organisation rebranded as Medics4RareDiseases and are planning exciting new projects thanks to sponsorship from industry. The M4RD board includes three doctors and original founders of the Barts Society, as well as a CEO of a patient group and a rare disease patient.
emotive is an independent, award-winning global healthcare communications agency, founded over 15 years ago, with the simple vision of changing lives by helping those who are unwell, get new and amazing treatments that can make them better. emotive has particular experience in rare disorders and supports clients at various stages of the product lifecycle, including those in ATMP such as gene therapies, gene silencing and cell therapies.
At a community level, emotive promotes engagement in science through sponsorship of the emotive science lab and annual science prize at two UK secondary schools. The team also works pro bono on strategy and awareness raising activities for M4RD.