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Our student essay competition is a small but important part of the work we do here at Findacure. It encourages young people studying biological degrees, or training for a medical career, to think about rare diseases and the challenges they create for patients and clinicians alike, as well as providing a platform for them to share their perspectives.

One thing that has struck the Findacure team in the last three years of running the competition is the number of authors who have centred their essays on personal experiences. Many of the essays we receive reflect very personal stories from young medics whose lives have been affected by a rare condition in someway, and have used their experience to inspire their career. This is a fantastic sign for the rare disease community, suggesting an increased understanding from the medical profession in the future. It also helps to remind us all that there are often very personal stories that inspire our doctors to join the healthcare profession.

Findacure launched the third instalment of The Student Voice back in October, with the first round of judging commencing in mid-November. Our judges aimed to select the best essay from each of our three questions, with one entry being crowned the overall winner. We received entries from a larger number of Universities than ever before – students from 17 different institutions participated, including five separate entries from the University of Liverpool, and one from as far afield as Brazil. The standard was once again high, impressing both Findacure’s independent panel of judges and Dr Ségolène Aymé – Editor of the Orphanet Journal of Rare Diseases who will be publishing the winning essay. Thanks to their hard work, we can start 2017 by announcing the winners of the Student Voice 2016.

Runner Up – Srinivasa Rambhatla, University of Birmingham

Srinivasa wrote the winning answer to our policy question – “How can clinicians and researchers, including students, help to deliver the UK Strategy for Rare Diseases?”

Srinvasa’s essay, entitled “Implementing the UK Strategy for Rare Diseases more effectively: A patient perspective” used the experiences of an Alström Syndrome patient to highlight the relevance of the strategy to patients, and the ways that clinicians can implement it their benefit.

“Patient empowerment is a key principle of the strategy, and for this patients must have strong support from their community. It is therefore paramount that patients are involved in their disease networks. Clinicians should inform patients of charities, support groups and communities. [One patient] spoke of his involvement with various Alström’s networks, and stressed the importance of connecting with not just national but international communities. Another implication of patient involvement in support networks is that they have a pathway with which to influence fundraising and government spending on rare diseases. This can be helped and co-ordinated by doctors, students and researchers as well, to ensure the government keeps true to the UK strategy via petitions and pledge cards as well as raising money for research and treatment.”

– Excerpt from Srinivasa’s essay

Runner Up – Ferenc Gutai, University of Dundee

Ferenc wrote the winning answer to our research question – “How can rare diseases lead the way in medical research and clinical innovation?”

Ferenc’s essay, entitled “The rare disease revolution: how it will help shape the future of medicine” gave a fantastic overview of the many different ways that rare disease research is at the cutting edge of science, whether at the forefront of next-generation sequencing diagnostics, promoting clinical innovation, or spearheading patient engagement.

“The shared signalling pathway defects between rare and common diseases mean that elucidating the pathophysiology behind one disease will shed light on a whole range of clinically different, but biochemically similar disorders. The discovery of mutations in the Tuberous Sclerosis Complex (TSC) genes and their links to a multitude of rare diseases including Fragile X syndrome, Peutz-Jeghers syndrome and Noonan syndrome represents the possibility of how treatments targeted towards inter-mutual pathways can benefit a whole variety of patients. We are fast approaching an era of medicine in which the interrelations between diseases are becoming more elucidated. Integrated therapeutics will allow for better therapeutic outcomes across a spectrum of patients, and it is clear that rare disease research will help spearhead this advancement.”

– Excerpt from Ferenc’s essay

Overall Winner – Rebecca Nunn, University of Cambridge

Rebecca wrote the winning answer to our patient experience question – “The impact of a rare disease is much more widespread than its direct symptoms. Discuss how, with particular reference to the patient experience” – and was declared the competition’s overall winner.

Her essay, entitled ““It’s not all in my head!” – The complex relationship between rare diseases and mental health problems” really impressed the judges with its excellent use of personal experience and independent evidence, all to highlight an often overlooked area of rare diseases – their impact on mental health.

“As a person with a rare disease, one way in which I view my life is as a series of precarious balances. Balancing the need for a clear diagnosis with the need to get on with life. Balancing the time spent in hospitals as a patient with the time spent studying there as a medical student. Balancing the wish to have completely honest conversations with doctors with the worry that they will no longer take you seriously if you do so. Rare disease patients throughout the UK consistently report that the effects of their condition stretch vastly beyond the medical, and have a large impact on many aspects of their lives. When these impacts are considered in the context of widely recognised risk factors for the development of mental illness, it starts to become clear why 69% of rare disease patients report experiencing depression and 82% experience anxiety and stress, compared to a combined rate of approximately 17% in the general population. However, patients with rare conditions are also frequently misdiagnosed as having psychosomatic illnesses when their symptoms are difficult to align with a common condition. As such, the relationship between rare diseases and mental illnesses is complex, and the concurrent management of the two fraught with difficulty for both doctor and patient.”

– Excerpt from the opening of Rebecca’s essay

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Huge congratulations to all three of our winners. As you can see the standard was excellent. You will soon be able to read the full essays from our three winners – our two runners up Srinivasa and Ferenc will have their pieces published as blogs on BioMed Central’s On Biology blog in the run up to Rare Disease Day 2017, while Rebecca’s entry will be published as a paper in the Orphanet Journal of Rare Diseases. We will of course let you know when the winning articles are out, and will be presenting awards to all of our winners at this year’s scientific conference. Findacure also plan to publish some of our other shortlisted entries as blogs throughout the year, so watch this space to hear more of the Student Voice in 2017.

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 provided an additional prize, 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.

The Student Voice – Announcing our 2016 Essay Competition Winners

by Rick Thompson time to read: 6 min