Posted by Für die deutsche Version hier klicken
Check out the winner and runner-ups here!
Mid October 2020 I was paired with Rose, a medical student from the University of Liverpool, UK, in her second year. The students were asked to write an essay based on one of three questions.
Rose chose Q3: ‘Reflect on the impact of shielding during COVID-19 on rare disease patients and their families. How has COVID-19 changed the rare disease experience?’
Thank you, Rose, for the opportunity to share my story and experience with you and that I get to share what you wrote on my blog! I hope all goes well for your exams.
Carney Complex
By Rose Stacey
Covid 19 has rocked the world. It’s thrown chaos globally to societies, economies and the medical profession. Whilst the general public find it hard adjusting to this temporary way of life, you’d be surprised to learn that some of the most adversely affected by it, the at-risk vulnerable members of society, offer a humbling take on dealing with uncertainty and restrictions. I will highlight how this pandemic could open the eyes of the public to the challenges faced daily by at risk members and the empathy we should go on to show them.
I had the pleasure to speak to “J” who is a middle-aged female diagnosed with an incredibly rare genetic disorder called Carney Complex (CC). Carney Complex is a genetic disorder that is characterised by benign neoplasia’s predominantly of the endocrine system, skin and heart. It is caused by mutations of the PRKAR1A gene¹ either idiopathically or in an autosomal dominant trait. It affects each patient to a different extent because of the amount of diagnoses it encompasses. I spent time talking, through Zoom, to patient ‘J’ about her experience growing up with CC.
When I first spoke to J I was captivated by her optimism and cheeriness not only for someone with a compromising rare genetic disorder but even more so in a pandemic. As is often the case with rare diseases a diagnosis can be delayed². J had her first tumour ‑one of many- when she was 9 years old but didn’t get a diagnosis until she was 14. Growing up she was also diagnosed with fibrolamellar hepatocellular carcinoma an incurable type of liver cancer and she explained she was lucky to have lived this long. Next it was Cushing’s, for which she had a bilateral adrenalectomy, resulting in a form of Addison’s Disease. They then found pituitary tumours, acromegaly, skin myxomas, papillary thyroid tumours and her latest is 3 cardiac myxomas which have all subsequently been removed.
As a medical student/medical professional our job is to fix the problem, treat the illness. It can be easy to lose sight of the patient. Speaking to someone as open as J highlighted the need for patient focused care. I hesitantly asked her “Out of your whole journey with Carney Complex, what has been the hardest challenge to face?”. I was naively expecting the 3 heart surgeries to take centre stage but her response was more potent. “I lost my identity” J replied. “In my case when you have an illness as systematic as CC, it can take over who you are, it encompasses every inch of your life”. She spoke to me about her bilateral adrenalectomy, she felt like a ‘different person after it’. Her energy levels were low and she described to me how she was this quick, intelligent and confident young lady and in an instant became fatigued easily. It was sad to see her distinguish her past ‘healthy’ self to the new normal; talking about it like they were two different beings. To her this was the most challenging time because she felt “as if her head wasn’t attached to the right body” and the “communication between them was lost”.
It was incredible hearing J’s mindset and something we should all try to achieve. Hearing her story as a young girl, growing up and battling with a disease such as Carney Complex that dominates your life and maintaining a positive mindset is inspirational. Not only is she thankful for the life she lives, she enjoys it. “People tend to think I can’t live a happy life, because of my condition” she explained to me. J is grateful for her life – having a loving and supportive partner, spends time on her family’s allotment and is now an advocate for Carney Complex. When I asked her how she was coping with shielding, her reply was simple “For my whole life I have been adapting to new diagnoses, ways of life and rules of what I can and can’t do – this is normal for me”. This statement grounded me. Although obvious, it didn’t occur to me that to people like J who have chronic illness, this is mundane. Everything the general public feels towards Covid, J has felt her whole life.
The frustration of not being able to work, new restrictions about activities, school absences and let’s not forget the fear of the illness itself. J explained how the difference between at risk shielding patients and the general public was so ‘polarised’. It was clear to me that her experience with her friends and public was strained because of the lack of empathy they showed towards shielding patients. She recalled individual conversations with friends explaining why she can’t see them as she is shielding only for some of them to take surprising offense.
J then made it clear that she understood why they felt this way, themselves having never experienced anything that would allow them to empathise so why would she expect them too. As a collective I hope we can apply more empathy to the shielded and vulnerable groups; most of us can understand how it would feel to have your life constantly be put on delay or prevented by a disease you can’t control. I believe there would be a better relationship and understanding towards those living with chronic illness and rare genetic diseases.
In Carney Complex, regular screening of cardiac tissue is advised especially with previous history of cardiac myxomas, as they grow so sporadically. J has biannual endoscopic screening as she previously had 3 benign myxomas, so for her it is critical to keep an eye on emerging ones but also mentally for reassurance.
Covid 19 has delayed this screening for her as the cases in Switzerland have been increasing to the point where the hospital is unsure when it is safe for her to attend. Vulnerable citizens are not only scared of the omnipresent threat of Covid, but the delay in treatment that for J could end up being fatal. These patients are currently weighed down in constant anxiety almost every day because of the virus’s impact on life, to have the added fear of your illness is overwhelming and isolating.
Carney Complex is a rare genetic disease, with around 750 diagnosis since the disorder was characterised in a medical journal in 1985. Having the opportunity to speak to someone living with it has reinforced to me the importance of patient focused care and the great lengths a systemic disease encompasses.
J has offered a take on the global pandemic that I had not seen before but one that is crucial for healthy citizens to empathise with. Rare diseases are already stigmatised and Covid 19 has created a larger gap of misunderstanding and judgement between the ‘healthy’ and shielded. We should be looking at these people with empathy and understanding because this is perhaps the closest we will ever get to understanding what life entails for patients living with rare systemic diseases.
¹ Kamilaris CDC, Faucz FR, Voutetakis A, Stratakis CA. Carney Complex. Exp Clin Endocrinol Diabetes. 2019;127(2–03):156–64.
² https://www.eurordis.org/publication/survey-delay-diagnosis-8-rare-diseases-europe-%E2%80%98eurordiscare2%E2%80%99
