Rare disease day 2023

The Adult in the Room

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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!

Check out the win­ner and run­ner-ups of 2022 here!

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.


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. 


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..


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.

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