Rare diseases rarely crop up during lectures at medical school, and the knowledge of many young doctors will be based on chance encounters during their early years of practice. However, in our experience, when given the opportunity to engage with rare disease patients, or learn more about rare conditions, young doctors rarely disappoint. The response to our student essay competition, The Student Voice, in the last five years has always been fantastic, with trainee medics showing an amazing willingness to delve into the patient experience of rare disease, to consider the challenges of securing treatments, and even share their personal experiences as doctor and patient.
Today, Findacure and Medics4RareDiseases are thrilled to announce the winning entries from The Student Voice 2018. This year we saw our largest number of entries to date, with entrants from 17 universities across nine countries and five continents. We’re really proud of the increasing reach and impact of the competition, but most pleased to see the fantastic understanding of rare diseases that each of our entrants show.
Thank you to everyone who decided to #DareToThinkRare!
Runner up – Maisha Umama, Queen Mary University
“Four things I learned from Heather, an individual with fibrous dysplasia”
Maisha was one of the many students who tackled our case study question:
Living with a rare disease is a life-long learning experience in which patients become experts in their own disease. Use a case study to demonstrate what future doctors can learn from patients with rare diseases.
To do so, Maisha took the opportunity to be paired with a rare disease patient group, spending time talking to one of their representatives about their rare condition, and their experience with it. Maisha was paired with the Fibrous Dysplasia Support Society, and spoke to Heather about her experiences with FD. Maisha’s essay is a very reflective piece, that highlights not only Heather’s personal experience with the healthcare system, but the impact of the conversation on Maisha. Spending time delving into one patient’s history clearly helped her to reflect on the importance of finding time to truly listen to a patient and value and respect their opinion.
“For Heather, it seemed that worsening pain was often written off as unimportant or possibly just an unexplained part of the condition. Most notably, her GP once turned her away for back pain after giving her anti-inflammatory drugs despite her insistence that the pain was not normal. She was eventually referred to a back surgeon separately through her rheumatologist where she was found to have a slipped disc. As shocking as I found it to think that her slipped disc was almost left untreated, it made me stop and think about the importance of ruling out any differential diagnoses rather than making assumptions.”
– Excerpt from Maisha’s essay
Runner up – Naomi Morka, University College, London
“When a Mother Flees from Her Newborn”
Rare diseases are a global problem, but it is often hard not to think about them from a very Western perspective. The lack of treatments, poor understanding, and inequity of care all seem shocking when compared to the high standards of medical care we have come to expect here in the UK, Europe, or the US. But what about rare disease patients outside this bubble? Our third essay competition question aimed to bring a more international perspective to the treatment of rare diseases:
The diagnosis and delivery of treatment for rare diseases can vary greatly from country to country. Compare and contrast rare disease healthcare provision of two countries of your choice. You may want to focus on a specific disease or stage in the patient journey e.g. newborn screening, diagnosis, access to treatment or access to clinical trials.
The winning entry for this question really dived into the stark contrast in treatment and perception of the rare disease Harlequin Ichtyosis in UK and Nigeria. Entitled “When a Mother Flees from her Newborn”, Naomi’s article really highlights the crucial role that education and awareness about a condition can play in a patient’s care, and experience of life. While funding, equipment, and advanced clinical approaches all make a huge difference, it is the level of education, awareness, and compassion of clinical teams that often come with these things that really drive a positive patient experience.
“In the summer of 2018, a baby with Harlequin Ichthyosis was born in a hospital in Northern Nigeria. Reports from local news networks and internet blogs state that on sight of the newborn, the child’s mother and the majority of the medical staff fled the delivery room. Following the stampede, a diagnosis given by a doctor familiar with the disease seemed belated and insufficient to reassure the fleeing mother and medical staff. As expected, this case drew public curiosity and speculation, not only because of the striking physical appearance of the child but also due to the pervasive ignorance of the disease even among medical professionals.”
– Excerpt from Naomi’s essay
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Winner – Logan Williams, The University of Auckland, New Zealand
“Repurposing a rare opportunity: A brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness”
For the first time ever, we are proud to announce a winner from beyond the shores of the UK. All of our entries are judged blind, and it was great to see our international entrants grab the stage with a winner all the way from New Zealand. Logan’s overall winning essay focuses on a chance meeting with a rare disease patient and his mother during his normal working day in the emergency department. Something about this patient stuck with Logan, leading him to dig deeply into their medical history and symptoms. It was during this investigation that he began to recognise that it was the psychosocial challenges that were the biggest issue for the patient and their wellbeing. His own training and approach biased him to look for biomedical solutions, rather than implementing the kind of broader care plan that would truly benefit the patient.
“Before meeting CS, I had no understanding of what WDS was. CS’s story wasn’t a common illness script that a medical student would hear about. Despite being briefed on CS by one of the foundation year doctors, I fumbled around CS’s past medical history by fervently asking about all the different types of seizures he was plagued by. I was determined to solve this complex biomedical puzzle. It was only after TS volunteered the psychosocial challenges she faced whilst caring for CS that I realised the strong implicit bias I had towards the biomedical aspects of patient care. A striking example of such challenges was the risk CS faced as he became stronger and increasingly independent. For many parents, their children achieving developmental milestones like walking are celebrated. But for TS, this meant that CS was able to climb over the railing of his bed. This newly developed mobility, combined with his seizures, posed a very serious risk of head injury. Without protective headwear, TS attempted to mitigate this risk by rearranging the entire family home.”
– Excerpt from Logan’s essay
Logan’s article fantastically captures the spirit of the Student Voice competition, and the aims of Medics4RareDiseases. He really highlights the importance of listening to the patient as a clinician, and thinking beyond the biochemistry of a condition, to actually try and help patients find ways to manage their condition and live a more fulfilling life. In his own words his patient’s journey “highlights the dangers of losing sight of the bigger picture, of treating the disease rather than the illness”.
Thoughts from Medics4RareDiseases
This year the winner and the runners up all wrote about learning lessons from engaging with the rare Disease community. The winner, Logan, beautifully articulated that a disease based approach may hinder a clinician from helping understand and alleviate the difficulties faced by people with rare diseases and their families. M4RD are very much looking forward to hearing him speak about his essay at ‘The Unusual Suspects: Rare diseases in every day medical care’ on 20th Feb at The Royal Society of Medicine. And our CEO, Dr Lucy McKay, will be attending the prize giving at The Findacure Drug Repurposing Conference.
Well done to all of you who entered this competition. We hope you will continue to #DareToThinkRare!