This week’s blog is an essay from one of our winners of The Student Voice Prize 2023!
The Student Voice Prize is incredibly proud of its international reach and to celebrate there is a dedicated shortlist for students whose second language is English.
We’re excited to share the winner of this shortlist, Diya Porwal, and her essay; ‘Battling uncertainty: The story of a SCAD survivor’.
Introduction
In the United States, a rare disease is defined as a condition that impacts fewer than 200,000 individuals, whereas in the European Union, a rare disease affects less than 1 in 2,000 people¹.
These differences in eligibility are unsurprising given that there are at least 7000 distinct rare diseases₁ with unknown incidence, varying severity and heterogenous presentation. More continue to be documented regularly in the medical literature.
While the prevalence of individual rare diseases is difficult to identify, estimates suggest that cumulatively rare diseases impact more than 300 million people worldwide¹.
It is baffling to think that this number is nearly equivalent to the entire population of the United States², the third largest country in the world.
Living with a rare disease means living with a pervasive sense of uncertainty.
Rare diseases present challenges in diagnosis and treatment, and patients and caregivers often encounter a scarcity of relevant information, healthcare services, and qualified medical experts³.
In a recent survey of patients and caregivers in America⁴, a third of patients waited four or more years for a diagnosis, nearly a quarter of patients saw six or more doctors before they were conclusively diagnosed, and half of the patients reported at least one incidence of misdiagnosis during their diagnostic journey.
Feelings of isolation and frustration can intensify the emotional toll of rare diseases. Limited peer support due to low incidence or geographic dispersion can leave rare disease patients feeling alone in their questions and experiences⁵.
Medical professionals struggle to provide appropriate support due to their limited experience with rare conditions, inadequacy of information and the complex needs of patients with rare diseases⁷.
Unfortunately, most criticisms about medical professionals are related to issues of communication⁸. Rare disease patients have conveyed the importance of being taken seriously and stressed the need for interpersonal sensitivity and partnership building⁹.
Battling uncertainty
However, uncertainty can also be a powerful driver of curiosity, knowledge and action.
Below, we present the story of Mary, a 46-year-old fit and healthy working mother who suffered from a spontaneous coronary artery dissection (SCAD), a rare cardiac condition¹⁰.
Ten years after her diagnosis, Mary has surrounded herself with a community of SCAD survivors, SCAD experts and other medical professionals in an attempt to battle the uncertainty that plagues the lives of rare disease patients like herself.
Her story serves as an exemplar of the power, both positive and negative, of uncertainty.
Case study
Mary remembers her next-door neighbour (a doctor) saying, “This looks like a heart attack, but you are too young to have this.” An unsuspecting medical history, normal electrocardiogram and eventual alleviation of symptoms convinced Mary’s rapid responder to categorise the event as a panic attack.
Mary was taken to the hospital as a courtesy, and the cardiologist
treating her was shocked when her troponin test came back positive.
His first response was to ask Mary, “When was the last time you took cocaine?”. “Never” was her response.
SCAD patients tend not to have the risk factors associated with a typical atherosclerotic heart attack; instead, polygenic risk, emotional stress and a yet unclear role of female sex hormones are suspected13.
Unfortunately, her relief at a diagnosis was quickly replaced by more uncertainty around treatment, prognosis and future outcomes.
Her cardiologist admitted he had never seen someone with her condition, apologised and put her on the protocol for an atherosclerotic heart attack.
He indicated this was the best he could do as he did not have a protocol for her management. Mary was told this was a one-off event, that she should not worry and that she would never meet anyone else with the same experience.
This mismanagement of diagnostic uncertainty undermined Mary’s confidence in her physicians.
However, without any information to reassure her, Mary constantly feared that she would have another SCAD.
Her mental health deteriorated, resulting in insomnia and a panic attack disorder. Like many rare disease patients14, Mary was forced to take on the job of becoming her own specialist.
She researched the condition and took it upon herself to educate medical professionals about how they could assist her. Meeting a cardiologist 14 months later who specialised in SCAD was transformative.
This was the first person Mary had met who knew more about her condition than she had learnt from researching Doctor Google. The positive impact of feeling “seen, heard and believed” spurred Mary’s psychological recovery in a way that cannot be overstated.
Understanding the benefit of peer support, the SCAD expert also connected Mary with other SCAD survivors. This was a hugely emotional event.
The feeling of being understood and reassured by someone who had been in her place was another essential piece of Mary’s recovery.
Mary plays an active role in a SCAD patient advocacy group and a patient-led charity, advocating for new research around SCAD and connecting SCAD survivors with the information and support they need to navigate the myriad uncertainties in what can be described as ‘the worst moment in their lives.’
When asked about the reason for collaboration between different stakeholders in the SCAD community, Mary emphasises, ‘We share a common enemy – the lack of knowledge and misinformation¹.
Conclusion
Mary’s story illustrates the practical and psychological impacts of effective and ineffective medical communication on the lives of rare disease patients.
In 2021, the UK Rare Disease Framework set out a national goal to improve the lives of rare disease patients.
Priorities highlighted in this framework are increasing the awareness of rare diseases among medical professionals, improving the speed of diagnosis, better coordination of care and improving access to specialist treatments⁵.
In the case of rare diseases, medical professionals can nurture trust through empathetic communication, shared-decision making, honest disclosure of the limitations of their knowledge of the disease, and engagement in the form of transfers to specialist services or upskilling on the condition¹⁶.
Additionally, financial incentives like the Orphan Drug Act in the United States and the European Medicine Act in Europe are necessary to motivate pharmaceutical companies to undertake vital but risky research for rare diseases¹⁸.
Effective medical communication can encourage rare disease patients to partner in these efforts and prioritise clinical and policy issues with the most significant benefit to patient outcomes.
1. Groft SC, Posada M, Taruscio D. Progress, challenges and global approaches to rare diseases.Acta Paediatrica. 2021;110(10):2711–6.
2. U.S. Census Bureau. International Database. https://www.census.gov/data-tools/demo/idb/#/dashboard.
3. Anderson M, Elliott EJ, Zurynski YA. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet journal of rare diseases. 2013;8(1):22–22.
4. Bogart K, Hemmesch A, Barnes E, Blissenbach T, Beisang A, Engel P. Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases. Orphanet journal of rare diseases. 2022;17(1):196–196.
5. Spencer-Tansley R, Meade N, Ali F, Simpson A, Hunter A. Mental health care for rare disease in the UK – recommendations from a quantitative survey and multi-stakeholder workshop. BMC health services research. 2022;22(1):648–648.
6. Iyer AA, Barzilay JR, Tabor HK. Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study. Genetics in Medicine. 2020 Nov;22(11):1830-7.
7. McKnight AJ, McMullan J, Walker R, Collins C. Communications and information review: NI report for rare diseases.
8. Ha JF, Longnecker N. Doctor-patient communication: a review. Ochsner Journal. 2010 Mar 20;10(1):38-43
11. Tullmann DF, Dracup K. Knowledge of heart attack symptoms in older men and women at risk for acute myocardial infarction. Journal of Cardiopulmonary Rehabilitation and Prevention.2005 Jan 1;25(1):33-9.
12. Lebrun S, Bond RM. Spontaneous coronary artery dissection (SCAD): The underdiagnosed
cardiac condition that plagues women. Trends in cardiovascular medicine. 2018;28(5):340–5.
14. Budych K, Helms TM, Schultz C. How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction. Health policy. 2012;105(2):154–64.
15. England Rare Disease Action Plan 2023: main report. 2023. Gov.uk. Updated July 10, 2023.Accessed November 9, 2023. https://www.gov.uk/government/publications/england-rare-diseases-action-plan-2023
17. Baxter K, Terry SF. International rare disease research consortium commits to aggressive goals. Genetic testing and molecular biomarkers. 2011 Jul 1;15(7):465.
18. Abedi S, Chen J, Joshi S, Singh S, Sultan M. Incentives for Pharmaceutical Compa-nies to Develop Treatments for Rare Diseases: A Review of the Literature. Int J Rare Dis Disord. 2021;4:033.
Watch this space for more essays from Student Voice Prize 2023 coming soon.
