The Student Voice Prize Competition of 2021 had more medical students apply than last year. Therefore I was in the extremely fortunate position to not only be paired with one but two medical students, Rachel and Jasmine. They had to write an essay based on one of three questions. Shout out to Philippa at Rare Beacon (former Findacure)! She coordinated and made sure no student was turned away from this opportunity to learn about a rare condition — one thing is for sure, she had her work cut out for her.
What is the Student Voice Prize? Click on the image
I am grateful to you, Rachel, for the opportunity to share my story and ‘cookie cutter’ experiences with you. It means a lot knowing that young aspiring doctors, like yourself, show an interest and willingness to learn more about rare diseases. I am proud, I get to share your essay on my blog! Thank you for taking the time and expanding your original essay after the student voice prize competition was over. I wish you all the best for your future endeavours and hope we will stay in contact.
- Jennifer
October 14th 2021 Philippa paired me with Rachel. Rachel is in her third year studying medicine at Barts and the London School of Medicine and Dentistry, Queen Mary University of London. She had her first ‘on call’ shift February 18th 2022 and was happy she could speak to patients when the hospital was more quiet.
She chose question number 2:
‘Rare Diseases and Intersectionality: A wide range of factors, such as race, wealth, and gender, can impact an individual’s experience of healthcare and society in general. This is known as intersectionality. Use a case study to demonstrate the specific challenges faced by patients with rare diseases on a daily basis. Discuss how intersectionality can mean that these people experience greater disadvantages’.
- Abstract
- BEYOND THE COOKIE-CUTTER APPROACH:
- RARE DISEASES AND INTERSECTIONALITY
- What is Carney Complex?
- How CNC and the ‘cookie-cutter approach affects J’s life
- Gender
- Race: cookie cutters in physical appearance
- Invisible illness: A social cookie cutter?
- The paediatric patient: the cookie cutter of age
- Location
- The working professional: occupational cookie cutters
- Mental health and wellbeing
- Overlapping intersectionalities
- Conclusion: looking beyond the cookie cutter
- How can we create healthcare systems that better reflect the unique individuals behind these diseases?
- References
Abstract
This article describes the experiences and challenges of J, a patient who lives with an extremely rare disease called Carney Complex. From receiving a diagnosis to learning to live with her condition, it explores the specific obstacles that J has faced as a result of her personal circumstances. This article also explores how current practises and structures within ‘cookie-cutter’ approaches to healthcare result in greater disadvantages for patients with intersecting identities — such as race, wealth, gender, and other characteristics — both in healthcare and in general society, particularly when these factors overlap with one another. Through considering the inequalities that patients with rare diseases, such as J and others face and how these may be exacerbated by their varying identities, this article aims to recognise the unique experiences of each person and patient and thus further highlight the need for holistic patient-centred care within structures that may otherwise give rise to inequality.
BEYOND THE COOKIE-CUTTER APPROACH:
RARE DISEASES AND INTERSECTIONALITY
by Rachel Lee
Intersectionality is a multidimensional research approach that can be used to highlight how interactions between social categories — including race, ethnicity, and gender — affect our understanding of health inequalities and different patients’ experiences.
Conversely, the ‘cookie-cutter’ approach describes the generic processes used to confine unique individuals into indistinct groups. This can be seen when healthcare professionals fail to acknowledge the possibility of a rare disease in patients’ first presentations, or when people neglect others’ intersectionalities and expect patients with rare diseases to live lives identical to those without a rare disease, thus overlooking their unique circumstances and needs.
I had the privilege of speaking with J, a lady in her mid-thirties who lives with Carney Complex (CNC) and founded the Carney Complex Community, a support group for people living with CNC. This article aims to explore the challenges that J has experienced during her rare disease journey through a lens that considers both her intersectional identities as well as those of other rare disease patients. In doing so, I hope that this article will help spark discussions about the unique needs of patients with rare diseases and the factors that should be considered to ensure healthcare professionals provide the best care possible.
What is Carney Complex?
CNC is an extremely rare condition that was first described by Dr J. Aidan Carney in 19801. Approximately 750 cases have been reported worldwide, but the prevalence remains unknown2. Patients can be affected by multiple endocrine tumours, non-endocrine tumours such as cardiac myxomas, and pigmented lesions of the skin and mucosa that occur throughout life3. Approximately 70% of cases are due to autosomal dominant mutations of the PRKAR1A gene, which J’s genetic tests confirmed in 1999, however CNC can also occur sporadically3.
At present, CNC is considered a heterogenous disorder and does not have a cure, and as such regular screenings for manifestations of the disease, including potentially life-threatening tumours and cardiac myxomas, are crucial2.
How CNC and the ‘cookie-cutter approach affects J’s life
J:More often than not I feel like the ‘cookie-cutter’ symbolizes all of what the doctors have learned at medical school and the experience they’ve gathered from working with patients. I’ve never fit that mould and it’s never fit my unique circumstances. It’s been hard to get doctors to trust my intuition and to then work together, with their expertise, to adapt to a different perspective.
Gender
“They don’t believe my version of the story”
When J gained weight during her teenage years, she had difficulties losing the weight afterwards. J approached several healthcare professionals about her concerns, many of whom unhelpful. One staff member even accused J of “doing it to get attention” when in fact her weight gain was later attributed to Cushing’s syndrome secondary to her CNC. J’s weight gain was a symptom of a medical condition, and yet medical professionals did not believe what she said. This is where the cookie cutter approach failed her.
Although women are more proactive than men in accessing primary care and report more severe and frequent levels of pain, they also face greater stigma when seeking medical help4,5. Within healthcare settings, women are perceived to be more sensitive and hysterical, are less believed by healthcare professionals, and are less likely to be given pain relief5,6. Unfortunately, this phenomenon is no different within the rare disease community, where J’s experience highlights one example of the gender bias patients often experience. As a result, female patients experience vast disparities in the timeliness and quality of their diagnoses and treatments, which may help explain why female patients with rare diseases report a lower health-related quality of life compared to their male counterparts4,7.
Race: cookie cutters in physical appearance
Previous studies have shown that racial and ethnic minority groups suffer from worse health outcomes and less access to healthcare services8. In the context of rare diseases, where patients already have limited access to appropriate healthcare services, coming from a racial or ethnic minority groups only amplifies health inequalities. Although this was not experienced by J due to her Caucasian background, it is possible that there remain patients with CNC with darker skin tones who have yet to be diagnosed merely because they do not present with the ‘expected’ pigmentation. While the heterogeneity of skin pigmentations within CNC has been previously studied, more research is needed to explore how skin pigmentation in CNC patients may present differently in darker skin tones9. This speaks to a larger need within healthcare: to erase the current ‘cookie cutter’ Eurocentric focus within dermatology so that the specialty better reflects the diverse people it serves.
Invisible illness: A social cookie cutter?
“I have an invisible illness.”
One member of the CNC community had their diagnosis delayed by 11 years because they did not present with the pigmentation doctors ‘expected’10. Talking to J revealed that, despite the research that has been carried out over the last 35 years, there remain a lot of misconceptions about CNC11. Within the healthcare community, having non-specific symptoms, variations in patients’ presentations, and an inability to see anything ‘physically’ wrong with a patient at first glance can lead to delays in diagnosis. This is especially common in rare conditions such as CNC, where patients often experience long diagnostic odysseys before finally finding an answer.
The difficulties of having an invisible illness continue long after patients receive a diagnosis. “You look at me and you don’t think I’m sick or that my many surgeries have left me handicaped. I can’t do everything I should be able to do at my age.”, J told me. The myxomas and tumours often seen in CNC manifests inside the body and are not visible to the naked eye. Many people in J’s social circles, from friends and family to peers and colleagues, have a hard time understanding J’s experiences with CNC, perhaps in part because they cannot physically see it. Her surgery scars are covered by her clothing. Invisible illnesses are just as real and valid as diseases that can be seen; patients’ suffering and hardships must be taken equally seriously regardless of whether they ‘look’ ill or not.
The paediatric patient: the cookie cutter of age
“I always felt like I was not included in the discussions… I just felt unheard.”
As a child, J, whose brother and mother also have CNC, encountered many difficulties living with the condition. When recalling her childhood experiences of consultations with doctors and her parents, J often felt disregarded — “I always felt like doctors wouldn’t include me in the discussions.” Despite this, J feels fortunate to have a mom who used to work in research. “My mom always made sure to explain to me what had been discussed and what was going to happen next. She was a very important pillar of support.” Although parents and doctors make decisions based on what they believe to be the child’s best interests, ironically this sometimes means that consulting the child themselves — the very person whom these decisions are about — is overlooked.
Consequently, this can leave paediatric patients feeling powerless and makes patients’ transitions from the well-coordinated paediatric services to far less coordinated adult care even more difficult. For J, switching from paediatric to adult medicine was a “nightmare” that left her feeling “lost and overwhelmed”. As rare disease treatments improve and patients with rare diseases live longer lives, improved communication during the transition from paediatric to adult medical services is only going to become more important.
J revealed: “At age 15, that pillar of support crumbled away when my mom had several severe strokes and nearly died from a second cardiac myxoma. She was rendered disabled. Her second myxoma was missed because her cardiologist at the time thought that the screening recommendations of the CNC experts were too excessive. Instead of bi-annual cardiac screenings to catch any reoccurrences early, she went in only once a year. For a very long time we as a family were just barely holding on. My dad – understandably overwhelmed – did his best to keep us going, but it was hard to fill the roles my mom had taken on. I took responsibility for my screenings, but my mom tried to be there for them as often as she could, as well as making sure my younger brother got the screenings he needed.”
Location
In contrast to common medical conditions, CNC is incredibly rare, which means there are only a small number of CNC specialists worldwide and access to expert knowledge is extremely difficult. Only 750 cases of CNC – 1 in 10 million people – have been confirmed worldwide, meaning it is extremely difficult for people with CNC to find others they relate to2. The online CNC Community has grown to encompasses just over 200 people who can communicate, share information, and connect in a world where they might otherwise feel alone, isolated, and invisible12.
Nonetheless, given that patients come from dozens of different countries, language barriers still pose a large issue within the CNC community. J told me about an Italian gentleman trying to get a diagnosis, who had to use Google Translate to communicate with their online community. Although the other CNC members were eager to help, the Italian gentleman struggled to understand much of the information shared because research is generally published in English. “Everybody tried their best to help, but it’s been hard to share research,” revealed J.
Geography is another factor that affects how easily rare disease patients are treated. Based in Europe, J considers herself extremely fortunate that she can undergo all her screenings in just one hospital located within walking distance from her home. Patients with CNC have to frequently attend multiple consultations located far away from each other; another patient J met through the CNC Community attends screenings in five different hospitals spread across the UK13. Although these medical appointments are essential, travelling such far distances on a regular basis can pose a large financial and time burden on patients, adding another layer of difficulty to patients’ lives. Patients with CNC have vastly different experiences with their disease depending on their location, which is another example of how the cookie cutter approach to a disease fails. Regardless of their language or country, all patients deserve equal access to information and services.
The working professional: occupational cookie cutters
“There is only a small spectrum of choices that you can make.”
In a 2017 EURODIS-Rare Disease Europe survey, 76% of respondents reported that having a rare disease limited their professional choices14. For J, this statement resonates profoundly. Her schools and employers expected her to arrange medical appointments before or after working hours, yet she also needed to be flexible to the availabilities of her six different specialists and medical appointments; she often found herself at a crossroads having to choose between her work or her health. A mould was forced over J that disregarded the unique circumstances that make her so different from other working professionals. As a result, J no longer works full-time and instead receives disability pay from the government to support herself. Flexible employment practises remain a serious unmet need for people with rare diseases14.
Mental health and wellbeing
“It upheaves everything for me… it’s like you just can’t catch a break. It’s never-ending.”
Being diagnosed with CNC turned life upside down for J. In the span of just five years, J, and her mother had four emergency surgeries between them, equating to almost one life-threatening surgery every year. This left J and her family with no time to recover from major operations before being flung right back into the tumultuous maze of emergency medical appointments again.
“As soon as we thought we had managed to put out one fire, another one had already ignited, unnoticed, and the next emergency surgery was needed. Trying to deal with ‘fires’ when they’ve had time to burn unnoticed, with no way to catch them early, was incredibly difficult and taxing…15 With every surgery, it has been more and more difficult to find my footing again in society.”
Beyond the effects on her physical health, CNC has had a large impact on J’s mental health. Every doctor’s appointment was filled with the anxiety and dread of the news she might receive afterwards16. Every new sign or symptom that J experienced eventually needed major surgery. Every surgery was a raging fire that demanded to be put out, bringing her family’s lives to a full stop and taking months to recover from both physically and mentally.
Referring to her mental health, J shared that “it’s still something we do not talk enough about in the Rare Community. There is so much stigma attached to it: you don’t want to appear weak.”
J is keen to break the stigma attached to mental illnesses and openly shared how the stresses, scares, and shocks of her illness affect her mental health. Since just 15 years old, she has battled with depression and post-traumatic stress in addition to CNC. People living with rare diseases are three times more likely to report being unhappy and depressed compared to the general population, and as such it is essential that we also support patients’ mental health when caring for them14. Unfortunately, this is something that is not acknowledged enough through the cookie cutter approach. For J, talking to a psychologist and meeting other people with CNC has had an instrumental role in helping her processing her experiences.
If anything, it was in being vulnerable and acknowledging her mental health struggles that J’s strength, resilience, and bravery shined the brightest. I am incredibly grateful that J shared this with me, and I hope that through writing about mental health we can help others suffering from a rare disease to realise their feelings are valid, and they are not alone in their journey.
Overlapping intersectionalities
“Will I still be the J that I was before?”
Among patients with rare diseases, the intersectionality between gender, race, age, occupation, language, and geography remains a blurry crossroad that gives rise to unique mental and physical hurdles in healthcare settings, at work, and in people’s personal lives. Through this essay, I hope I have given you a better idea of the effects of living with a rare disease on people’s physical and mental health. Most importantly, the serious effects of a rare disease on people’s mental health, need to be acknowledged more. There is an urgent need to look beyond the cookie cutter.
Conclusion: looking beyond the cookie cutter
“All you have is a cookie cutter that you put over me.”
Despite the challenges and health scares J has experienced, I was struck by the calmness, hope, and resilience she radiated. Not only is J currently writing a comic book, but she also created an online community to connect people living with CNC. Her platform fights for change and improvements to the rare disease experience daily. It challenges the cookie cutter approach often imposed on patients. This has become an invaluable platform for patients living with CNC, and other rare diseases to share their experiences and find people who understand their experiences.
How can we create healthcare systems that better reflect the unique individuals behind these diseases?
Advocating for change is a burden that cannot lie solely on patients. Instead of placing cookie cutters over patients with rare diseases and adopting a ‘one size fits all’ approach, we need to acknowledge the specific challenges that patients from diverse and intersecting identities face. Through transformational changes within systems, cultures, and individuals, we can help people like J live longer, healthier, and happier lives.
References
- Atherton, D. J., Pitcher, D. W., Wells, R. S., & MacDonald, D. M. (1980). A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome. The British journal of dermatology, 103(4), 421–429. https://doi.org/10.1111/j.1365–2133.1980.tb07266.x
- Correa, R., Salpea, P., & Stratakis, C. A. (2015). Carney complex: an update. European journal of endocrinology, 173(4), M85–M97. https://doi.org/10.1530/EJE-15–0209
- Rothenbuhler, A., & Stratakis, C. A. (2010). Clinical and molecular genetics of Carney complex. Best practice & research. Clinical endocrinology & metabolism, 24(3), 389–399. https://doi.org/10.1016/j.beem.2010.03.003
- Kent, J. A., Patel, V., & Varela, N. A. (2012). Gender disparities in health care. The Mount Sinai journal of medicine, New York, 79(5), 555–559. https://doi.org/10.1002/msj.21336
- Samulowitz, A., Gremyr, I., Eriksson, E., & Hensing, G. (2018). “Brave Men” and “Emotional Women”: A Theory-Guided Literature Review on Gender Bias in Health Care and Gendered Norms towards Patients with Chronic Pain. Pain research & management, 2018, 6358624. https://doi.org/10.1155/2018/6358624
- Chen, E. H., Shofer, F. S., Dean, A. J., Hollander, J. E., Baxt, W. G., Robey, J. L., Sease, K. L., & Mills, A. M. (2008). Gender disparity in analgesic treatment of emergency department patients with acute abdominal pain. Academic emergency medicine : official journal of the Society for Academic Emergency Medicine, 15(5), 414–418. https://doi.org/10.1111/j.1553–2712.2008.00100.x
- Bogart, K. R., & Irvin, V. L. (2017). Health-related quality of life among adults with diverse rare disorders. Orphanet journal of rare diseases, 12(1), 177. https://doi.org/10.1186/s13023-017‑0730‑1
- Chang, M. H., Moonesinghe, R., Athar, H. M., & Truman, B. I. (2016). Trends in Disparity by Sex and Race/Ethnicity for the Leading Causes of Death in the United States-1999–2010. Journal of public health management and practice : JPHMP, 22 Suppl 1, S13–S24. https://doi.org/10.1097/PHH.0000000000000267
- Mateus, C., Palangié, A., Franck, N., Groussin, L., Bertagna, X., Avril, M. F., Bertherat, J., & Dupin, N. (2008). Heterogeneity of skin manifestations in patients with Carney complex. Journal of the American Academy of Dermatology, 59(5), 801–810. https://doi.org/10.1016/j.jaad.2008.07.032
- A. (2021). Angela’s odyssey — no ‘freckles’ no carney complex? Carney Complex Community. https://www.carney-complex.org/diagnosis/delayed-diagnosis/diagnosis-odysseys/angelas-odyssey/
- J. (2021). Delayed diagnosis. Carney Complex Community. https://www.carney-complex.org/diagnosis/delayed-diagnosis/
- Carney Complex Community (international, English). (n.d.). Facebook. https://www.facebook.com/groups/carney.complex/
- Rare Disease UK. (2010). Experiences of Rare Diseases: An Insight from Patients and Families. Www.Raredisease.Org.Uk. https://www.raredisease.org.uk/media/1594/rduk-family-report.pdf
- Rare Barometer, Eurodis. (2017). Juggling care and daily life: The balancing act of the rare disease community. Eurodis. http://download2.eurordis.org.s3.amazonaws.com/rbv/2017_05_09_Social%20survey%20leaflet%20final.pdf
- J. (2021). Jennifer’s Family odyssey — Family medcial history not considered. Carney Complex Community. https://www.carney-complex.org/diagnosis/delayed-diagnosis/diagnosis-odysseys/jennifers-family-odyssey/
- J. (2021). It’s part of me; I choose joy — heart screening for cardiac myxomas. Carney Complex Blog. https://itspartofme.carney-complex.org/2021/04/24/heart-screening-for-cardiac-myxomas/