The Student Voice Prize Competition of 2022 aimed for students to look at and think about 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. Students are paired with a rare disease patient, whom they have to interview before delving into writing an essay. Additionally, they get to choose from three questions, of which they can only pick one to answer. Varsha’s essay ‘The adult in the room’ hopes to give the reader a glimpse into the process of getting a diagnosis, which is unique to each individual.
What is the Student Voice Prize? Click on the image!

Thank you Varsha, for the time and willingness to learn more about rare diseases. I absolutely loved that you got all excited when looking into the genetics of Carney Complex. It’s young aspiring physician, like yourself, that make it possible to move things forward in the rare disease space. You showing your enthusiasm and interest (geeking-out) has given me hope and reconfirmed that we need people like you by our side. We cannot walk it alone.
I’d love to stay in touch. Wishing you all the best for your studies and future endeavors.
- Jennifer

Varsha and I had our first contact back in 2022 on October 18th. Following an undergraduate degree in genetic engineering from India, Varsha is a postgraduate student at the University of Glasgow, currently getting her master’s in Medical Genetics and Genomics. She hopes to join the scientist training program to become a genetic counsellor soon. In her free time, Varsha enjoys reading, experimenting in the kitchen and karaoke sessions with her friends.
Varsha’s choice was question number 3:
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.
This is a slightly edited version of Varsha’s essay.
For better readability I’ve subdivided the longer paragraphs and added some headings. The text was not changed.
Abstract
The journey to getting a diagnosis for a rare or complex disorder can be disorienting and long. This essay explores the path taken by two individuals towards their diagnosis of Carney Complex. Carney complex is an autosomal dominant syndrome associated with spotty pigmentation of the skin, endocrinopathy, and endocrine and nonendocrine tumours, including myxomas of the skin, heart, breast, and other sites.
The adult in the room delves into the impact of a diagnostic pathway on patients and their caretakers and questions the current focus on mental health and assistance offered to patients working towards a diagnosis that can help them feel validated.
THE ADULT IN THE ROOM
by Varsha Vijayakumar
When J was 14 years old she was pulled out of class with no more information than just “You have a call from the hospital.” She later found out as she rushed to the hospital that her mother had had multiple seizures and was in the emergency room.
As she entered to find her mother in bed, feeling untethered as her rock lay there vulnerable, she knew something was wrong. She could feel the urgency of every person she’d seen but no one told her what had happened. Just that there was an emergency. No one prepared her for what she was about to see or experience.
At first, nothing was visibly wrong with J’s mother but as she moved to the foot of the bed J saw that something was incredibly amiss with her face, “Looking back at me was not my mom… or it was but the left side of her face was drooping — as if it were about to fall off…”
Eventually, a man with a clipboard walked in. J recalls her mother’s face softening in relief and recognition as he walked in to talk to her. He then turned towards J and J finally got the information she’d been yearning for. Her mother had had a stroke. As J processed this information her mother had another seizure. J’s instincts kicked in, she pushed the emergency button and a swarm of people rushed in.
As if it happened yesterday
She vividly remembers two young doctors, asking her questions about her mother. Had she ever had a seizure before? Was she any different when J last saw her? But all J could remember was that her mother had had a cardiac myxoma before. It was drilled into her head by her mom that the first thing to check was her heart, no matter what. The doctors convinced her that her mother’s last checkup was fine but that was a year ago. As she tried to convince the doctors her dad arrived and immediately all the information was directed to him — the adult in the room.
Those doctors didn’t have the opportunity to understand that J had been forced to grow up much faster than anyone had expected. J had her first tumour in her liver at the age of 8. Soon after, at the age of 13, she was diagnosed with a fibrolamellar hepatocellular carcinoma and was at the time given a diagnosis of Carney Complex. But it was the incident with her mom that forced her to face her mortality. The fear that her mother’s experience would become hers was a reckoning.
Her previous hospital experiences never left her feeling like there was any immediate threat to her life. However, after what had happened to her mom, she felt like “death appeared and made me aware that sand had been removed from my hourglass”.
The path to diagnosis
J had an unconventional path to getting her diagnosis. She’d been to the hospital multiple times before to address her multiple liver tumours and was under close and cautious monitoring for cancer she had at 13. In between her two liver surgeries in 1994 and 1999 her mother had a cardiac myxoma in 1996 and had to undergo open-heart surgery to fix it. The attending surgeon on seeing her mother’s ‘freckles’ brought up the term Carney Complex, which was the snowball that started the avalanche.
J believes the only reason it didn’t take longer for her family to get a diagnosis is that her mother worked at a research lab. She began extensively researching and eventually came across an article by Dr Carney that mentioned a similar type of tumour to what she had in her early twenties. She worked tirelessly well beyond her shifts at the research lab all with the need to get more information. J recalls a time when her mother carried pages of research on a ski vacation to ensure she didn’t miss out on any piece of the massive puzzle that she was putting together in her head. She shared her concerns, research, and fears with doctors but some were dismissive of her findings while others were cautious to jump to conclusions in the fear of J and her mom being used as “guinea pigs.”
Family history wasn’t considered
Connections weren’t made between J’s liver tumours and her mother’s cardiac issues. That combined with the fact that research on Carney Complex was still in its early stages meant that it took time and perseverance from J’s mom to get a diagnosis. J also had help from her aunt in the States who was a lawyer who specialized in medical advocacy. Finally, when J went to get the liver cancer removed, her doctors collected blood samples and sent them to be tested. Surely enough, she along with her mother and younger brother were diagnosed with Carney Complex due to a variation in the PRKAR1A gene.
Comparisson with Baby S
However, it’s not only variations on this gene that can cause Carney Complex. Research indicates that 30% of patients with Carney Complex do not have a variation in the PRKAR1A gene at all and this was seen clearly in the case of baby S.
Baby S was born with cyclical Cushing’s syndrome (a rare endocrinological disorder described by repeated episodes of elevated levels of cortisol production followed by periods of normal production) which was extremely rare in newborns. Over the course of two years, baby S was taken in and out of hospitals, all while her mother’s concerns weren’t being looked into. Through her perseverance, she determinately found a doctor who took her concerns and validated them. Baby S was then tested for Carney Complex and the McCune-Albright syndrome but tested negative for both. Baby S’s mother did not give up and ultimately, after a year of testing, baby S had her adrenal glands removed and was then given a diagnosis of Carney Complex without mutations in the PRKAR1A gene.
Mental health
The process of getting a diagnosis for a rare disease is incredibly challenging and mentally draining. Parents or caregivers are viewed with suspicion or often their concerns are disregarded. While many of these conditions do not yet have a defined cure, getting a diagnosis can be highly validating.
J elaborates on how anxiety became a part of her daily life. She wasn’t able to talk to anyone about how overwhelmed she was feeling “Even now I can hear my teenage self screaming from my subconscious vault: What life? This isn’t life. This is torture… How am I supposed to forget what happened and move on? You’re the adults here!!! You should have the answers!!! Which of course now I know it is silly to think that way but as a child/ teenager you are led to believe adults have all answers to life”.
Oftentimes, patients are expected to deal with the information they’ve been given like it’s a bomb. They are forced to deal with it as though they are adults without ever being offered the support they need to say “I don’t know what I’m supposed to do”. Her experiences caused her to fall into the well of depression and left her experiencing PTSD. She talks about how it took her a long time to find the support she needed to be able to talk about how it had affected her so adversely..
Conclusion
As patients navigate the tumultuous path of getting a diagnosis they start feeling isolated and alone. J says she started the Carney Complex community to form a safety net for herself and others where people could reach out to ask for help, or advice or just share the route they took to reach where they are in life.
As diagnosticians, we often forget the faces behind the disease. It is easy to get bogged down with facts, figures and test results. It’s not just the patient that needs to be considered but also their caretakers. It is frequently overlooked how crucial the role family members play in a patient’s disease process. Shortly, multidisciplinary clinical research should prioritise developing and creating a systematic assessment of family members’ emotional and psychological stability as secondary patients to provide support. The path for patients can be made easier with the help of better training for health professionals, offering mental health support and most importantly ensuring that patient lives and experiences are being validated. Medical professionals must remember who the “adult in the room” is.