How can more medical students and researchers become involved in rare conditions? What challenges will they need to overcome to be successful? These were the questions answered by Ashleigh Draper, medical student at King’s College London, for our 2017 Student Voice Essay Competition. Her entry is copied below as a blog.

 

Rare diseases can be a misnomer; they are defined as conditions which affect five or fewer individuals per 10,000. This translates to approximately 3 million people in the UK alone living with such conditions, and these can be chronically debilitating or even life threatening (Shiepatti et al., 2008).  Furthermore, as a result of leaps forward in the field of genetic research, this number is growing as the physiology underlying rare diseases is elucidated over time. These patients represent a significant cause of ill health, which deserves appropriate diagnosis, treatment and management, with the latter two often taking place over the course of the patient’s life.

 

As a consequence of this “rare diseases” label, there has been a diminished research base because of the presumed limited market, and this directly impacts diagnosis and management of rare conditions. Compounding this is the mantra “common things are common” which is used throughout our time at medical school for both clinical practice and revision purposes. This is something that may hold true during our time studying, but once in the clinical environment faced with a patient presenting in an unfamiliar way, this adage is not sufficient practically to ensure effective patient care and management. It is therefore vital to encourage student participation within the realm of rare diseases, and train students to think of zebras, as well as horses, when they hear hooves.

 
Moreover, it is of vital importance to continue with research into rare diseases; this permits illumination of pathophysiological pathways underlying these conditions, which can, in time, lead to the production of orphan drugs. These pharmacological interventions are sadly lacking as a result of presumed market limitations, and this cycle will only continue without a more vested interest in this neglected field of medicine.

Promotion and awareness: let’s start early

As a consequence of this “rare diseases” label, there has been a diminished awareness of not only conditions falling under this umbrella term, but also a misconception of the devastating impact these conditions can have. Consequently, medical students are often unaware of the importance of such conditions, and do not have enough of an interest in this cohort of patients.

The first step in addressing and overcoming the challenges of participation with rare disease is to develop a keen interest in the patient population. Before considering extra-curricular options for students to be involved in, it would be prudent to make arrangements for rare diseases to be more formally incorporated into the medical school curriculum. This has been achieved previously (Byrne, 2012), with an elective module being offered to students, providing the opportunity to attend talks given by patients.

This can be combined with tutorials and problem solving workshops, to facilitate familiarity with how rare diseases may present themselves. Such initiatives evoke more than just passive listening, but critical thinking and analysis regarding rare diseases and the impacts that they can have on patient’s lives, both within the hospital and at home, or in their local community. Additionally, such an initiative will evoke a positive experience for students with research, and hopefully instil the importance of such work. This encouraging contribution to scientific advance often follows students into their careers, with doctors being heavily involved in research as they work in the clinical setting.

Dangle the irresistible research carrot

Moving forwards from curricular activities, rare disease societies are increasing in popularity, with groups such as “students4rarediseases” and “National Organisation for Rare Disorders” aiming to improve understanding and provoke interest and engagement in this field of medicine. Medical students tend to spend their time at medical school immersing themselves in extra learning opportunities to boost their eventual application for foundation positions; so research projects, and organising and presenting at conferences start to take priority towards the end of their degree. A rare diseases conference, with invitations to patients or representatives, and speakers covering conditions or challenges within rare disease would be an amazing feat, and could extend to a national meeting if organised well.

These conference are a fantastic option for clinicians, researchers and students alike. You can give or listen to talks about the innovative research being performed and they can promote collaboration and networking. Furthermore, conferences can empower patient support organisations through appropriate programmes and training, whilst facilitating learning, and the exchange of knowledge between affiliates.

During studies, being involved in research is an invaluable tool to a student. It gives you time away from your immediate education, and provides a taste of something different; something far more complex and independent. This experience helps develop transferable skills, and within the specialty of rare disease, gives an insight to the gravity of these conditions, and how they impact patients and their families, in addition to contributing to the field with the research outcome itself. Broadening this area of research may spike interest in a vast number of medical students specifically, to be more involved in this field of medicine once they qualify as clinicians, or perhaps even specialise in it.

The challenge with being involved in research projects stems from the availability of supervisors, and the potential need for the student to be trained prior to participation if statistical analyses are to be performed on data collected. For rare disease, this will be a case of students seeking out potential supervisors and approaching them. However, it is also important for research project leads to be more proactive in using medical students; students are much more available, and can be a valuable resource for data collecting and writing up projects, when clinicians may be more restricted owing to clinical duties.

Conclusion

Undoubtedly, there are countless more opportunities for clinicians, researchers and students to become involved in rare diseases, whether it be research projects, societies, or conferences. As with the ongoing characterisation and improved understanding of rare diseases this increased participation from researchers and future medics will demand an overwhelming amount of collaboration between healthcare professionals, the public, university institutions, and medics to ensure students and researchers get involved. This participation is all part of the bigger picture of improving awareness, diagnosis and management of patients with rare diseases. This collaboration needs to be achieved at an international level to tackle this issue, involving regulatory authorities such as the Rare Disease Committee, pharmaceutical companies, and charitable organisations.

As discussed in this article, rare diseases are more common than we think, and it is therefore paramount that we continue to prioritise research in this area, and promote participation from clinicians, researchers and students. This will serve to raise awareness of the impact these conditions have on patients, and to broaden the area of expertise, to facilitate the best patient-centred care we can deliver in the UK.

Bibiography

Byrne, P. (2012) Training medical students on rare disorders. Orphanet Journal of Rare Diseases7:A15.

Schieppati, A. et al. (2008) Why rare diseases are an important medical and social issue. Lancet371,:2039–2041.