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At the start of October 2015, we at Findacure launched the second instalment of our student essay competition. For six weeks, medical and biological undergraduate students across Europe set pen to paper (or, more likely finger to keyboard) to record their rare disease opinions, experience, and knowledge. We’d like to thank everyone who took part in our competition. There were some excellent entries, showing exceptional understanding of the science behind rare diseases, as well as a clear personal understanding of the patient experience. As the competition closed on 16th November, we’d received over 30 entries!

Judging was carried out across the three essay questions, with the aim of selecting a winner for each question, one of whom would be declared the overall winner. With the judging by Findacure’s panel complete, and a shortlist of essays assessed by Orphanet Journal of Rare Diseases, we can now announce the winners of the Findacure Student Essay Competition 2015.

Question 1: Compare and contrast the medical experience of a patient with a rare disease and one with a common condition.
We hoped that this question would capture some interesting case studies or personal stories through the eyes of young medics and researchers. Our winning entry, and overall winner of the competition, did not disappoint. Roberta Garau, a fourth year medical student at the University of Aberdeen, submitted a powerful and personal essay, which used her own experiences when her mother was diagnosed with a rare cancer to highlight the difficulties faced by all rare disease patients. The Editor-in-Chief of Orphanet Journal of Rare Diseases, Ségolène Aymé, remarked that “I have never read such a sensitive analysis of what the patients and the families have to go through to make decisions.” Thank you Roberta, for sharing your story and insight with us.

“Unfortunately it is cancer. It is called undifferentiated pleomorphic uterine sarcoma, but the doctors are not sure, it could be a leiomyosarcoma. They have never seen a similar case before.”

I remember the day my father called me to give me the terrible news. I could not believe that it was my own mother affected by a disease with such a frightening name. Remembering the spelling so I could Google it was hard enough. I was only at the end of my first year of medical school and thought it was normal that I had never heard of it. I soon realised that it was too rare to be covered in lectures. In the few hours after my father’s call I discovered that uterine sarcomas account for 1% of uterine cancers, and uterine cancer in turn makes up only 2.5% of cancer diagnoses. I could not find a specific incidence rate for her cancer, because no one was ever sure of the diagnosis. Suddenly, I realised that the challenges my family was going to face to receive appropriate care were greater than the ones we would have faced had this cancer been more common.

– The opening of Roberta’s winning essay

Question 2: How might rare genetic diseases be fundamental to our understanding of medicine as a whole?
The essays in this section were much more scientific in tone, and explored the impact of rare disease research on medicine as a whole. Our winner, Nicholas Heng, a second year medical student from the University of Dundee, produced a fantastic review of what rare disease research brings to our understanding of human biology and illness. His essay touched not only on scientific advances, but also the way in which rare disease treatment and management can change all healthcare.

… it is important to understand that diseases, no matter how rare, should not be dismissed or neglected, but be actively considered in the context of the patient. This not only allows one to appreciate the complexities of medicine, but also is essential in the drive towards greater efficiency in diagnosis and management.

– Extract from Nicholas’s essay

Question 3: Discuss the medical and ethical issues involved in treating rare diseases with off-label prescriptions.
Our final winner, Mark Jacunski, a first year medic from King’s College London, entitled his essay “There is more than one way to show that a treatment works”. In it he discusses the role of off-label prescription for treating rare disease patients, and the reasons why it is necessary.

… using off-label drugs to treat patients with rare diseases is still controversial. On one hand, it is important both not to set a precedent for unsubstantiated treatments and also to acknowledge the greater risk associated with off-label treatments. On the other hand, patients with rare diseases have no other adequate options, in part due to research and development focusing on more common, economically-disruptive conditions in society, such as obesity or cancer.

– Extract from Mark’s essay

Both Nicholas and Mark win a £100 cash prize, and a free ticket to our scientific conference on Rare Disease Day. Roberta also wins a free place at our scientific conference, a £200 cash prize, and free publication in Orphanet Journal of Rare Diseases. Huge congratulations to all three of our winners. All of the essays are now published online – you can find links here.

Everyone at Findacure would like to thank our dedicated team of judges for marking all of the entries, along with our partners at Orphanet Journal of Rare Diseases who judged the shortlisted essays, and will be publishing Roberta’s winning entry. A few of the other entries and winners may also appear on their blog in the future. Finally special thanks must go to our competition sponsors, without whom the competition could not have happened.

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The Student Voice: Essay Competition Winners 2015

by Rick Thompson time to read: 4 min