Student Voice Prize Competiton

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Stu­dent Voice Prize 2020
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.


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