Posted by 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.
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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.
Abstract
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.
RARE BUT STILL DESERVING OF CARE:
THE BLESSINGS AND BARRIERS FACING A RAREDISEASE PATIENT IN
REGARD TO RESEARCH
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.
Conclusion
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”.
References
- Rare Disease Database . (2017).Carney Complex. Available: https://rarediseases.org/rare-diseases/carney-complex/. Last accessed 12th Nov 2021.
- Jayrox. (2020).Carney Complex. Available: https://www.carney-complex.org/carneycomplex/. Last accessed 12th Nov 2021.
- Horvath A, Bossis I, Giatzakis C, et al. Large deletions of the PRKAR1A gene in Carney complex. Clin Cancer Res. 2008;14:388–395.
- 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.
- 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/
- “Research.” Merriam-Webster.comDictionary, Merriam-Webster, https://www.merriam-webster.com/dictionary/research. Accessed 12 Nov. 2021.
