Rare diseases are often at the periphery of med school life. Alongside studying for medical exams, hospital placements, and the challenge of getting enough sleep, it is unlikely that most medical students will be able to give rare diseases much thought. Yet, as they may be faced with diagnosing one at some point in their career, it’s important that they should. Unfortunately, within the formal medical curriculum rare diseases exist at the edges, as they are unlikely to be seen frequently during a doctor’s medical career. As a result, infrequency is more often than not associated with insignificance, meaning there is little effort to bring rare diseases into the mainstream of medical education.
Yet, such a great impact can be made in rare disease patients lives when medical professionals pay attention to rare diseases and their implications. For a rare disease patient, one doctor or medical student who has deemed rare diseases worthy of attention could be the most significant person in the world. Identifying that one expert who knows something can make a huge difference to their life and can limit a future of searching for someone who understands and sees the significance in their struggle to finds answers, diagnosis and treatments. In fact, rare diseases are extremely significant to the 3.5 million patients and their families in the UK and many more worldwide. If a third of the population of London started taking to the streets and shouting, we would listen, so why are we still not listening when it comes to rare diseases?
This is why The Student Voice Prize exists: to give a voice to students who care and want to see changes in what they are taught, and to give a voice to rare diseases and invite them into the lecture hall.
Runner up - Muhummed Shaikh, University of Leicester
Our first runner up, Muhummed Shaikh, answered question one, focussing on the impact of medical education on the rare disease patient diagnostic odyssey. Both Findacure and M4RD were keen to focus the entrant’s minds on the role that clinicians can play in the patient journey to diagnosis, and therefore the importance of a medical education process that call help young doctors to consider rare disease diagnoses. Muhummed’s essay stood out as he really focussed on the medical education process and giving solutions to improve the system and patient experience.
“One thing which should not be omitted in this teaching is the necessity of empowering the patient to actively partake in their own medical care. All patients should be empowered: the best medicine is prevention, and preventative medicine involves enacting things only the patient has control over. However, rare disease patients arguably benefit more from taking control of their own care than any other group. These patients often know much more about their condition than the clinicians treating them. However, even without a diagnosis, patients can be very astute when it comes to researching their potential conditions – after all, no one knows a patient’s symptoms better than the patient themselves. Additionally, the empowerment of rare disease patients has led to political action which has ensured more investment into this patient group from the medical and pharmaceutical industries.”
Runner up - Sandy Ayoub, St Georges University of London
Our second runner up, Sandy Ayoub, answered our case study question. This aimed to get students to focus on a particular story in rare diseases, discussing the condition’s impact on mental health and on the thinking of the student themselves. For this essay Sandy took part in our patient group pairing scheme. She was paired with FOP Friends, and wrote a compelling essay about this rare and terrifying condition, and its impact on patient’s lives and outlook.
“Unlike depression, however, demoralisation fails to show sufficient improvement with antidepressants. Instead, demoralisation is best tackled through mitigating the patient’s physical or emotional stressors as well as fortifying their resilience. With chronic conditions, demoralisation often lessens as novel management plans are delineated and symptoms are actively managed. With terminal conditions, demoralisation can be diminished when the patient believes their doctor understands their concerns, acknowledges their suffering and is capable of addressing their problems. Exploring attitudes towards hope and meaning in life, fostering search for a renewed purpose, and using cognitive behavioural therapy to reframe negative beliefs can be valuable. Some may additionally benefit from spiritual support or family meetings to enhance family functionings. During SR’s last rheumatology review, he was told “there is nothing more I can do”. The demoralised patient needs a physician who perseveres, as Cassell puts it “there is never a time when nothing can be done.”
Runner up - Anneliese Ng, University of Western Australia
Anneliese’s essay was in response to our third question, investigating the experiences of rare disease patients with very different backgrounds who live in the same country. Anneliese investigated the disparity in treatment experience between indigenous Australians and its non-indigenous peoples. Her essay captured some really interesting aspects of the Indigenous culture that can cause challenges for rare disease treatment and diagnosis and really helps to open the readers eyes to the disparity that can exist between people with different backgrounds but the same condition.
“In Indigenous culture, regions, referred to as countries, belong to different subsets of Indigenous people and travelling through country in a respectful and responsible way is important. Stepping into another country without being welcomed or invited may bring some uneasiness to Indigenous patients. Building upon the previous point, country is a spiritual, physical, social and cultural concept that is central to Indigenous culture and encompasses the idea that there is an interdependent relationship between people and their ancestral lands. However, the importance of country is often ignored in a clinical setting thereby subjugating Indigenous values, attitudes, and beliefs to the hegemonic Western biomedical model at the expense of Indigenous people’s health. In this manner, ongoing management necessitated by rare diseases is frequently rendered unpleasant and unsuitable.”
Winner - Anna-Lucia Koerling, University of Cambridge
Our overall winner is Anna-Lucia Koerling, whose article “No Friends 1” focusses on a personal encounter that she had as a medical student when she was sent off to ‘study’ a patient with a rare disease who had been admitted to her hospital. Anna-Lucia’s essay really captures the personal experience of both the trainee doctor walking the ward, and the patient sitting there being examined over and over.
“David confirmed that he had NF1 (‘or as I call it, No Friends 1’), including multiple spinal tumours, and congratulated me slightly sardonically on my deductions. I sat down to take a history, and he looked confused. ‘Ah. You’re the first one who’s wanted a chat.’
I was surprised, and saddened. How awful it must have been to be David, constantly prodded and gawked at by medical students (most of whom were around his age), but unable to actually have a conversation with any of them. David was an expert patient, but I quickly realised that I’d prefer to hear about how NF1 had affected him than a disease summary I could learn from google. ‘So, how are you doing? Mentally, rather than physically?’
I watched as David’s eyes filled with tears, which he wiped embarrassedly on the blanket. It became apparent that in the 8 days since his admission, no one had asked him how he was dealing with the mental burden of his condition – something which is all too common for rare disease patients. In a survey conducted by Rare Disease UK , 46% of patients, and 58% of their carers report never being asked about their mental health/wellbeing. This is despite the well-established impact that living with a rare disease has on patients’ mental health.”
We are thrilled with the response to this year’s Student Voice Prize and the quality of the essays. Thanks to all of those who entered or who supported the event. All of our winning entries will be officially published in the lead-up to rare disease day, so please watch this space for your chance to read the essays in full this February.