Rare but still deserving of care

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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, Jas­mine and Rachel. 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!

Check out the win­ner and run­ner-ups here!

Thank you Jaz, for the time and effort you put into your essay. I’m grate­ful I got to meet a young aspir­ing physi­cian that showed an inter­est and will­ing­ness to learn more about rare dis­eases. It’s my plea­sure to share what you wrote on my blog! I’d love to stay in touch! Look­ing for­ward to be read­ing more of your writ­ing in the near future. I hope all goes well for your stud­ies and exams.
- Jen­nifer

My sec­ond pair was Jas­mine. Our first con­tact was Novem­ber 10th 2021. She is a med­ical stu­dent from the Uni­ver­si­ty of Man­ches­ter, UK, in her sec­ond year. Jas­mine has a per­son­al blog, which I per­son­al­ly think you should check out too!

Jas­mine’s choice was ques­tion num­ber 3:
Rare Dis­eases and Research Par­tic­i­pa­tion: Patient par­tic­i­pa­tion in research has mas­sive­ly helped to accel­er­ate the devel­op­ment of treat­ments for rare dis­eases over the last decade. Dis­cuss the ben­e­fit of patient par­tic­i­pa­tion in rare dis­ease research and sug­gest bar­ri­ers that exist to their par­tic­i­pa­tion. Explore how health­care pro­fes­sion­als can sup­port patient involve­ment in research.

This is a slight­ly edit­ed ver­sion of Jas­min’s essay.
For bet­ter read­abil­i­ty I’ve sub­di­vid­ed the longer para­graphs and added some head­ings. The text was not changed.


Patients with a rare dis­ease face so many bar­ri­ers in today’s soci­ety — from hav­ing to explain their con­di­tion count­less times on end because “Oh, I’ve nev­er heard of that, what is it?” to shuf­fling from spe­cial­ist to spe­cial­ist because there isn’t sim­ply an expert on their exact con­di­tion. That being said, there is a cer­tain lev­el of uni­ty and com­mu­ni­ty which exists with­in the rare dis­ease pop­u­la­tion, where­in patients have come togeth­er to seek out physi­cians whose inter­ests align with their ail­ments and have worked togeth­er to both raise aware­ness and push the bound­aries of mod­ern med­i­cine.

This is explored fur­ther in my essay which cen­tres around the expe­ri­ences of my patient pair, Jen, who suf­fers from Car­ney Com­plex. Togeth­er, we unpacked the bar­ri­ers and ben­e­fits which exist regard­ing patient par­tic­i­pa­tion in rare dis­ease research, as well as look­ing into ways that health­care pro­fes­sion­als can sup­port patient involve­ment in said research. I hope you find the piece entic­ing and enlightening.



by Jas­mine Rutere

In a world where every­one strives to be dif­fer­ent, there are plen­ty of peo­ple who yearn to be just like every­one else. The idea of being unique, a dia­mond in the rough, stand­ing out from the crowd is so desir­able in this day and age, but have you ever con­sid­ered where the line is drawn between being a rar­i­ty and being an anom­aly? It was my immense priv­i­lege to speak with Jen, a friend­ly, smi­ley, pas­sion­ate cre­ative who suf­fers from Car­ney Com­plex, about her expe­ri­ences as a patient with a rare dis­ease; how she has pushed bound­aries and will con­tin­ue to do so, as well as times when she feels like she is hit­ting one brick wall after another.

What is Carney Complex?

Despite sound­ing like a car­ni­val show­ground, Car­ney Com­plex (CNC) is far more chron­ic and clin­i­cal than can­dyfloss-like and cheer­ful. NORD (the Nation­al Orga­ni­za­tion for Rare Dis­or­ders) defines it as “a rare genet­ic dis­or­der char­ac­terised by mul­ti­ple benign tumours, most often affect­ing the heart, skin and endocrine sys­tem…”1. Yet some­how, these words don’t do it jus­tice. This is hard­ly sur­pris­ing giv­en that only 750 cas­es have been report­ed since the dis­or­der was first pub­lished in 19852.

For ref­er­ence, that is only a hand­ful more than the num­ber of char­ac­ters you have read of this arti­cle thus far. In a nut­shell, CNC is an umbrel­la term, and some patients with it have muta­tions in the PRKAR1A gene locat­ed on chro­mo­some 173, which is respon­si­ble for pro­duc­ing one of the reg­u­la­to­ry sub­units of Pro­tein kinase A4. It is thought that this par­tic­u­lar gene is a tumour sup­pres­sor, and so its muta­tion results in tumours grow­ing through­out the body, affect­ing a mul­ti­tude of organs2. How­ev­er, this is only a work­ing the­o­ry as only 70% of patients with CNC have this muta­tion, and oth­er genet­ic vari­ants are sus­pect­ed but have not been researched5.

Which brings us on to the main body of this piece: Research; tak­ing a brief look at both the ben­e­fits and the bar­ri­ers that CNC patients face regard­ing par­tic­i­pat­ing in it.

In regards to research

Stem­ming from the Old French recer­chi­er, the lit­er­al mean­ing of the word research is “to go about seek­ing”6, and this def­i­n­i­tion, although sen­si­ble, is not all-encom­pass­ing. Note how it does not have an end point; ergo it is not “seek­ing until you find an answer”, but mere­ly the act ofseek­ing itself. In our own way, we are all researchers as we are all seek­ing one thing or another. 

A research Pioneer

This is par­tic­u­lar­ly the case of my patient pair, Jen, who I intro­duced ear­li­er. At the age of 19, Jen asked the lead CNC inves­ti­ga­tor if there was a sup­port group for patients which there was not. This led Jen to go about seek­ing (or, sim­ply put, to research) oth­er patients who shared her con­di­tion and this research led her to set­ting up the Car­ney Com­plex Com­mu­ni­ty which is, at present, the only inter­na­tion­al CNC com­mu­ni­ty in exis­tence. This makes Jen noth­ing short of a pio­neer, paving the way for oth­ers to make con­nec­tions and walk along­side fel­low trav­ellers on their own CNC jour­neys which, although dif­fer­ent, share a sim­i­lar­i­ty that is unique in itself. 

Years lat­er, now aged 36, Jen has been to sev­er­al con­fer­ences, Rare Gene Days and sem­i­nars and, through her research, has expand­ed her port­fo­lio and raised aware­ness for CNC all around the globe. Her per­son­al research has made a dif­fer­ence. But what impact has this had on Jen and what ben­e­fits has this brought about for oth­er patients with CNC?

Blessings of research

First­ly, the most ben­e­fi­cial part of patient par­tic­i­pa­tion in rare dis­ease research is the feel­ing of final­ly being cared for on the patient’s part. Often as med­ical stu­dents, we rush over rare dis­eases because they are “unlike­ly to come up in exams” and we “prob­a­bly won’t ever encounter them any­way”. The down­stream effect of this neg­li­gence is a large cohort of health­care pro­fes­sion­als who have lit­tle to no expe­ri­ence with deal­ing with these con­di­tions and fur­ther­more, a lack of inter­est in push­ing the bound­aries of mod­ern med­i­cine to inter­vene on the behalf of the patients who have no choice but to inhab­it bod­ies which are affected. 

Sim­i­lar­ly, anoth­er ben­e­fit of patient par­tic­i­pa­tion in research is that it rais­es morale with­in the com­mu­ni­ty. On our ini­tial call, Jen detailed the jour­ney that research into CNC has under­tak­en and although sig­nif­i­cant, it has been rather thin on the ground. Although a bar­ri­er, this pro­duces a ben­e­fit because patients end up lean­ing on one anoth­er for sup­port, via medi­ums such as the group which Jen orches­trat­ed. Yet, for every hill there must be a val­ley, and in this sce­nario, that is heav­i­ly guard­ed patient anonymity. 

Barriers in research

Pic­ture this: you go into hos­pi­tal for a dosage of the med­ica­tion you must get every 28 days to sup­press the over­pro­duc­tion of growth hor­mones due to an over­ac­tive pitu­itary gland — which you’ve had since age 20. While there, you strike up a con­ver­sa­tion with the nurse admin­is­ter­ing your injec­tion and men­tion your con­di­tion. They say to you “oh Car­ney Com­plex, that’s inter­est­ing; I just saw a patient with that this morn­ing. How strange, I had nev­er even heard of it until today and now I’ve met two of you!” Your heart leaps with joy: some­one else with Car­ney Com­plex in the same coun­try, pos­si­bly even the same city as you?! It’s almost a mir­a­cle. But then your fol­low up ques­tion is briefly answered with a rapid “I’m afraid I can’t give you any details about them — no name, phone num­ber, noth­ing — sor­ry about that, I shouldn’t have men­tioned it. Let’s get back to your injec­tion”. Your heart returns to its dull, reg­u­lar, rhyth­mic pound­ing as you once again retreat back into your des­ti­tute diag­nos­tic cave, no less alone than you had been when you arrived. 

While main­tain­ing patient con­fi­den­tial­i­ty is of utmost impor­tance, when patients with rare dis­eases are try­ing to con­nect with oth­ers but find­ing noth­ing more than a pseu­do­nym on one research paper in the dark­est cor­ner of NCBI, it can feel as iso­lat­ing as not being invit­ed to a birth­day par­ty at school when every­one else in your class is going, even though you con­sid­ered the birth­day boy to be your bestest bud.

Anoth­er bar­ri­er to patient par­tic­i­pa­tion in rare dis­ease research is the fatigue that patients can often feel from being the only sol­diers fight­ing in the con­stant uphill bat­tle that is nov­el research. Due to rar­i­ty being cen­tral to the very nature of these dis­eases, patients can often feel that there is a real lack of advo­cates for their con­di­tion com­par­a­tive to their more com­mon coun­ter­parts. Though this is no fault of the gen­er­al pub­lic, rare dis­ease patients feel like they fall­en by the way­side; after all, when was the last time you saw some­one run­ning a marathon for mas­to­cy­to­sis or demand­ing dona­tions for Danon dis­ease?

Jen likens the real­i­ty of lack­ing research in the rare dis­ease field to a huge swamp, and states that the only way to cross such a quag­mire is using step­ping­stones, which rep­re­sent peo­ple (physi­cians and lay­folk alike) who are will­ing to put them­selves inside murky waters for the sake of help­ing oth­ers tra­verse the marsh­land. Although a patient her­self, Jen states that through all her efforts, she “wish­es to be the best step­ping­stone that she can be”, help­ing as many peo­ple along­side her own jour­ney as she can.


Research is robust. Research is reward­ing. Some days, it can feel like chip­ping away at the same ice block for years on end and not get­ting tan­gi­ble results. Oth­er days, it moves at the speed of light. It means dif­fer­ent things for patient and prac­ti­tion­er. From being the hope that you might sur­vive five years beyond your aver­age life-expectan­cy to being your once-in-a-life­time shot at a cov­et­ed Nobel. There are var­i­ous bar­ri­ers and ben­e­fits to med­ical research.

As physi­cians of the future, it is our priv­i­lege to sup­port patients on their jour­ney, pro­vid­ing the best care pos­si­ble. A rare dis­ease isn’t rare for the per­son suf­fer­ing from it; it’s their day-to-day, they know no dif­fer­ent and it isour respon­si­bil­i­ty to treat their con­di­tion with as much vigour as we would the most com­mon of dis­eases. Our lack of knowl­edge should not dimin­ish our empa­thy nor our resilience in work­ing hard to cure the patients of tomor­row.

I would like to express huge thanks to my patient pair Jen for putting up with my end­less stream of ques­tions and for tak­ing the time to dis­cuss her con­di­tion with me and allow­ing me to write this piece. Through con­ver­sa­tion with her my eyes and heart were both opened to a whole new world which I had pre­vi­ous­ly nev­er even con­sid­ered. Car­ney Com­plex is vast and if you would like to find out more, kind­ly vis­it Jen’s web­site Car­ney Com­plex Com­mu­ni­ty. To close with Jen’s words, “It’s bet­ter to focus on what I can do, rather than focus on the impossible”.


  1. Rare Dis­ease Data­base . (2017).Carney Com­plex. Avail­able: https://rarediseases.org/rare-diseases/carney-complex/. Last accessed 12th Nov 2021.

  2. Jay­rox. (2020).Carney Com­plex. Avail­able: https://www.carney-complex.org/carneycomplex/. Last accessed 12th Nov 2021.

  3. Hor­vath A, Bossis I, Giatza­kis C, et al. Large dele­tions of the PRKAR1A gene in Car­ney com­plex. Clin Can­cer Res. 2008;14:388–395.

  4. Tirosh A, Valdés N, Stratakis CA. Genet­ics of micron­odu­lar adren­al hyper­pla­sia and Car­ney com­plex. Presse Med. 2018 Jul-Aug;47(7–8 Pt 2):e127-e137. doi: 10.1016/j.lpm.2018.07.005. Epub 2018 Aug 6. PMID: 30093212.

  5. Stratakis CA, Ray­ga­da M. Car­ney Com­plex. 2003 Feb 5 [Updat­ed 2018 Aug 16]. In: Adam MP, Ardinger HH, Pagon RA, et al., edi­tors. GeneRe­views® [Inter­net]. Seat­tle (WA): Uni­ver­si­ty of Wash­ing­ton, Seat­tle; 1993–2021.Available from: https://www.ncbi.nlm.nih.gov/books/NBK1286/

  6. “Research.” Merriam-Webster.comDictionary, Mer­ri­am-Web­ster, https://www.merriam-webster.com/dictionary/research. Accessed 12 Nov. 2021.

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