Most students at University won’t have ever considered rare diseases. Even medical students are likely to have only encountered rare genetic conditions in passing during their lectures. They are generally seen as a fringe case – not something likely to be central in your life or career. Of course, for those individuals living with a rare condition, the situation could not be more different. Identifying a researcher or clinician who knows something about their disease, or is willing to dedicate time to it, can make a huge difference to their life, and potentially the lives of all who share the diagnosis. That is why Findacure runs its student essay competition, The Student Voice, every year: to introduce rare diseases and the patient experience to students early in their career. Hopefully this will encourage then to consider rare conditions as they move into the workplace, ultimately improving the clinical and academic interest in rare diseases in the future.
The Student Voice 2017 proved to be our biggest competition yet. We received more entries than ever before, from 8 different countries and 23 different universities, and the standard was high as always. All of the judges were impressed and we’re pleased to say that we can now announce our newest round of winners.
Runner Up – Simon Westby, University College London
“An odyssey not alone”
Simon’s essay was in answer to our question about how the diagnostic odyssey can impact the patient clinician relationship. He recounts his experience of being introduced to the case of a single patient who had been diagnosed with an ultra-rare condition. He uses this personal experience to frame the common problems that both patients and clinicians face when attempting to diagnose a rare condition, including the fear and uncertainty that can be found on both sides of the relationship. Simon concludes with a simple message that we believe many rare disease patients would agree with. There is no failure on the part of the doctor or the health system for not knowing an answer. The failure comes when the doctor does not develop a relationship with the patient to guide them through the diagnostic challenge.
I have only ever cried on the phone once. What was surprising was that it was whilst talking to someone I had only just been introduced to – patient SM. As a medical student, over the past few years I have met countless patients and been privileged to share in their journeys. Yet, it was during this phone call that for the first time I realised what it truly meant to receive a rare disease diagnosis.
Patient SM told me how after multiple misdiagnoses, hospital visits and investigations, she was diagnosed with the first reported case of eosinophilic granulomatosis with polyangiitis (EGPA) (incidence 0.5-3.7 per million), manifesting with a vesicovaginal mass. Her story is the basis and reason for this essay, through which I will explore the issues surrounding a rare disease diagnosis, their impacts on both the patient and the patient-clinician relationships and potential solutions to these problems.
– Excerpt from Simon’s essay
Runner Up – Rupa Kumar, University of Cambridge
“Raising the flag for orphan diseases – opportunities and challenges for medical students and researchers”
As our competition is supported by Students 4 Rare Diseases, we wanted one of our questions this year to ask our entrants how medical students and researchers can become more involved in rare conditions. Rupa’s excellent entry answered this question by detailing some personal experiences of rare disease research. Through this she makes a strong case for student involvement in rare diseases.
I believe that paying particular attention to this group of conditions as a medical student creates a deeper understanding of the human condition and what it means to be a good doctor. Medical students are in a unique position to get involved in rare diseases. At no other time in our careers will we be at the interface between all the following: A fresh understanding of science, seeing patients in a range of specialities, and opportunities for research. Having these resources, without yet being under the pressures of working as a doctor is an invaluable time in our lives. Similarly, researchers are in a powerful position to become involved in rare conditions, having the expertise to translate important research questions into answers.
– Excerpt from Rupa’s essay
Winner – Mariam Al-Attar, Lancaster University
“TRAPPED – an insight into two sister’ struggle to access treatment for a rare genetic disease”
This year’s overall winner is Mariam Al-Attar, whose essay tackled the barriers facing patients as they try to access treatments for rare conditions. In the essay, Mariam describes a consultation where she met one of two sisters diagnosed with the rare condition TRAPS. A licenced treatment exists for TRAPS, but there is currently no viable commissioning route for patients to receive the drug. Mariam shares the sister’s route to securing six months’ worth of treatment, the impact it had on their lives, and the current uncertainty they face.
“The next patient has TRAPS,” my consultant informed me. I had no knowledge of this disease. “It’s incredibly rare,” she added, explaining that managing this patient had been extremely difficult. I presumed this was due to a lack of effective treatment, as is often the case for rare diseases. The patient, a young lady called Sophia, was called in.
It became immediately clear that this was not a “normal” clinic appointment. Instead of discussing symptoms, they talked about funding applications. Listening intently, I gathered that there was a treatment for TRAPS, but instead of the usual recommendations about adherence, Sophia was advised to “make it last”. I was burning with questions.
Afterwards, I found out that Sophia would soon have her treatment completely withdrawn, despite desperately needing it. This left me even more bewildered.
– Excerpt from Mariam’s essay
Everyone at Findacure would like to offer huge congratulations to all three of our winners. We had some great entries, and are grateful to everyone who entered. You will soon be able to read all three of our winning entries in full. Simon and Rupa’s pieces will be published on BioMed central’s On Medicine blog in the run up to Rare Disease Day. Mariam’s winning essay will feature as a published article in Orphanet Journal of Rare Diseases, which will be open access and available to all.
The Findacure team would like to thank everyone who entered this year’s competition and made it a huge success. We also give special thanks to our dedicated team of judges for marking all of the entries, Students 4 Rare Diseases who helped to promote the competition, and our partners at the Orphanet Journal of Rare Diseases who judged the shortlisted essays, and will be publishing the winning entries. Finally special thanks must go to our competition sponsors, without whom the competition could not have happened.