2022 Winners

The Student Voice Prize essay competition saw its ninth year in 2022 and we are delighted to now be able to announce the brilliant winners and runners up of this year’s competition!

The official shortlist (look out for blogs on M4RD and Beacon in the coming months!):

🏅Urvi Gupta, Case Western Reserve University School of Medicine
🏅Olivia Rowe, University of Southampton
🏅David Hu, University of Cambridge
🏅Ela Curic, University of New South Wales
🏅Elizabeth Iles, University of Leeds


Check out our winners and runners up below. Their essays will be available to read in Orphanet Journal of Rare Diseases and the BMJ on the 28th February 2023!

Winning essay:

Diagnosing Rare Diseases: A Family’s Story

Zheqing Zhang, Third year medical student, The University of Oxford. Paired with an advocate from the VEDs Movement.

Zheqing answered question three: Diagnosis can be a challenging journey for many people living with a rare condition. Compare and contrast the diagnostic journey of two or more people/families living with a rare condition, reflecting on the impact of these experiences on their mental well-being.

The SVP team and judges sought an answer that conveyed the complexities and impact of the diagnostic odyssey in the rare disease community, with a focus on the challenges, long journey, and effects on mental and physical health. A clear understanding of the range of experiences in diagnosis was expected. The answer should recognize that diagnosis is a process, not a single event, and is personal and unique to each individual.

Zheqing partnered with Sarah from the VEDS Movement, who has Vascular Ehlers Danlos syndrome. They delved into the consequences of misdiagnosis, as Sarah’s diagnosis only came after the death of her two siblings. Zheqing  examined how diagnosis affects mental health, and how Sarah and her family coped with the many complexities of grief, and took steps for their mental and physical wellness. She also explored how the diagnosis brought with it empowerment and a clearer future for Sarah.

For Sarah, grappling with the grief of losing her sister and the lifelong implications of her own diagnosis was a mental whirlwind – a strange mix of relief, guilt, anger, shock, and confusion. Arguably, the premature deaths of her siblings were worse outcomes, but they were spared the psychological trauma and survivor’s guilt, which affected Sarah profoundly. It bothered her that she had not found an answer for an entire year, when continuously seeking second opinions left her exhausted and bewildered. She was angry at herself for not pursuing it more, and angry at her doctors for not diagnosing it earlier. “I can’t believe we had to lose another person to finally get an answer,” she laments.

Runner up:

Behçet’s Disease: Diverse Manifestations in Both Brain and Body

Olivia Noone, Bachelor of science in nursing (BSN) through Camosun College and the University of Victoria. Paired with an advocate from Behcets UK.

Olivia answered question one: Using a case study or a number of case studies reflect on how an individual’s experiences within the healthcare system and with healthcare professionals may impact their psychosocial wellbeing and the role of HCPs in managing these.

The team were looking for an answer that recognised the community wide challenges of diagnosis and building healthy patient-clinician relationships in the rare space. They were to explore this whilst rooting it in the experience of different individuals who interact with HCP’s in different ways dependent on their condition and personal circumstances. A good answer was expected to look beyond solely the process of diagnosis and show an understanding that diagnosis is a process that can span many years, many specialties and involve interacting with a range of HCP’s. We also wanted to see an exploration of the role that clinicians can (and should) play in seeking to understand patients psychological situations and concerns and aim to help/ treat these in order to view the patient in a more holistic and complex way. As well as the fact that HCP’s can recognise the role they play in creating positive interactions, especially due to their role as the educated, powerful and expert actor within these interactions.

Healthcare professionals must ensure that the individual is placed empathetically at the centre of care, encompassing the meaning of patient-centred care, alongside consideration for supporting friends and family. Reaching the realisation that someone is so much more than their disease or illness is fundamental and can not be understated. In reality, it is those around us that uplift and give strength in times of need. Both professional and personal relationships have the capacity to be harnessed for this purpose.

Runner up:

The ‘diagnostic odyssey’ – a unique and unpredictable journey towards hope.

Chloe Yallop, Genetics, University of Manchester

Chloe answered question three: Diagnosis can be a challenging journey for many people living with a rare condition. Compare and contrast the diagnostic journey of two or more people/families living with a rare condition, reflecting on the impact of these experiences on their mental well-being.

One mother was provided with a PDF, clearly written with a medical audience in mind, which was densely academic and horrifying in its content. Over the phone, she was informed that the paediatrician knew nothing about the disease but warned her of what she came to read – that her daughter had a life expectancy of 42 months. The paper roughly read: “this is one of the most catastrophic multisystem genetic disorders known to modern medicine”, a devastating way to convey this news. Unlike many resources written for RD patients and their families, this academic paper was unsuitable for E, and left her with more questions than answers.

Runner up:

One in a Million Disease with a Million Dollar cure

Fiza Javed, MD, Queens University, Ontario

Fiza answered question two: Access to treatment can vary greatly between rare conditions and even between individuals living with the same condition. This could be because:

  • There is no disease-modifying drug, or there is one that the patient can’t access due to eligibility or location.
  • There is a drug that is anecdotal known to alleviate symptoms but it isn’t licensed.
  • Or there is a drug on trial but the patient isn’t eligible.

Discuss how access to treatment, management and research can impact a person’s mental wellbeing.

The team were looking for an answer that recognised that obtaining access to treatment, good symptom management and research are often goals at the forefront of patient community’s and individual patients’ minds. Answers which subsequently understood that whether it is possible or not can have a huge impact on the mental health of patients and families and their perception of how their condition will impact their life in the future. The team was looking for an answer that put mental health first and acknowledged the emotional difficulties patients face with treatment, management, and research. We expected the entrant to consider the impact of unequal access to treatment, self-prescribing, and clinical trials on patients’ guilt and anxiety. Whilst providing solutions for better communication and alleviating the psychological pressure on patients. The team emphasized the need for understanding the psychological impact of being a source of information and access to treatments and research, whilst recognising the importance of realistic expectation setting.

The common concern that patients voice is not being heard when drug approval decisions with life changing implications are made. Patient autonomy and choice to make informed decisions is eliminated when effective drugs with potentially monitorable side effects are not approved. Variables determining benefit vs. risk disregard quality of life and psychosocial burden of disease. “All they kept looking at were the number of pancreatitis attacks and hospitalizations” several patients shared. Resources can be directed to understanding the significant impact on daily life, disability, higher risk and costs of managing acute complications and chronic diseases, which is the long-term sequelae for many FCS patients.