How can more medical students and researchers become involved in rare conditions? What challenges will they need to overcome to be successful? In this week’s blog, Hanusha Durganaudu from Monash University Malaysia explores these questions. His blog was originally written for Findacure’s Student Voice Essay Competition 2017.

Rare conditions can be defined as life threatening or chronically debilitating diseases which are of such low prevalence that combined efforts are needed to address them[i]. These conditions result in significant burden on patients, especially since approximately 80% of them are genetic in origin and persists for patients’ entire lifetime[ii]. My first personal experience with a rare disease (RD) patient concerns a 10-yeared-old boy with Achondroplasia whom I met at a local recreational facility. Since the condition impedes normal skeletal development, numerous medical interventions were started at early infancy itself, along with additional lessons and activities to build social and living skills. Luckily for Ahmad, his environment and family condition allowed these measures to be taken but it was then that I realised that there may be many others who are not as fortunate as him.

In order to combat RD effectively, active involvement and collaboration between different parties are of utmost importance and these includes medical students, as they are the future generation of clinicians who would be handling these cases. Therefore, it is crucial that medical colleges devise and implement syllabus which includes reasonable coverage on RD. This can be done by delivering lectures, tutorials and assigning tasks pertaining to aetiology, symptoms and management of these conditions, at the very least. As there are more than 7000 RD detected globally, priority should be given based on worldwide and national prevalence. As one of the most gruelling journey for RD patients today is undoubtedly the process of obtaining an accurate diagnosis, adequate exposure among medical students will help to relieve burden in this aspect. Moreover, the knowledge acquired may also spark interest among students to be involved in RD research field.

Furthermore, it will also be beneficial for medical students’ future practice to have some practical experience supplementing the theoretical knowledge gained. This can be achieved by establishing collaboration between medical colleges and local RD health care facilities or organisations to enable direct interaction between students and the RD patients. Therefore, it will shed some light on the symptoms and difficulties faced by the patients in their everyday life as well as their general management. Collaboration with research labs and pharmaceutical companies can also be initiated to enlighten the student about the research fields related to RD, their requirements, progress and challenges faced in the field. Ideally, a short, mandatory placement at RD facilities should also be incorporated into their clinical years. Since there are many types of RD to be addressed, sharing sessions can be held whereby students who are posted to different facilities will have the opportunity to share their experience via presentation and written reports. Through this measures, the students will also learn additional skills and values such as teamwork and presentation skills apart from the knowledge gained.

In addition, we can also increase the number of researchers involved in RD by widening the scope of research to include not only the biochemical component of the disease, but also other factors which affect the patients significantly. Among these include mental health issues, effective health care systems, external support systems and even public policies, because all these, if properly managed, may help to alleviate their burden. Hence, instead of limiting research personnel to those of scientific or medical background, we will be able to include other parties such as primary carers, mental health professionals, health policy makers and most importantly, the patients themselves. This is an essential point to note because in most cases, patients will know best about the areas that should be prioritised while dealing with their condition and care.

However, needless to say that as of now, there are several challenges that medical students and researches need to overcome in order to be successful. Personally, I feel that among these challenges, the most vital aspect would be lack of awareness about RD among leaders, medical professionals and society members in general. This in turn, serves as contributing factor for other problems such as reduced financial aid and resources as well as lack of knowledge and interest among the people. Many people are not aware about the existence of RDs as each of them only affect a small portion of the community, and most of the time, even these are undiagnosed or are diagnosed inaccurately. As a result, the consequences of the conditions are often overlooked and lesser efforts are taken to rectify the situation. It is even worse for affected individuals who reside in rural areas or certain developing countries where knowledge and access to proper RD facility is very difficult or even non-existent. Therefore, a global initiative can be implemented to raise awareness regarding RD. Campaigns and competitions should be organised more frequently at national and international level to propel individuals to make their own research about RD. In addition, awards can also be conferred to medical professionals and individuals who have made significant contributions in the area and more avenues such as journals can be established for professionals and scientists to communicate their findings. Indirectly, it will also encourage more people to be involved as they realise that it is indeed an important field.

Lack of sufficient financial aid and material resources is another challenge which may pose significant hindrance to progress in RD field, particularly in terms of research. In fact, a review conducted on several national policies for RD found that while some countries do have sophisticated and holistic approach to tackle the issue, others still lack in terms of development or implementation of the policies[iii]. Moreover, low awareness about the disease also results in lesser allocation being made for RD field, as it is often considered as low priority. Therefore it is crucial for governments, pharmaceutical companies and other related parties to acknowledge this issue and allocate sufficient financial aid in their annual budget for RD. Other means of obtaining financial aid such as organising fundraising events should also be explored and this is where medical students and RD organisations come into play. Availability of sufficient financial aid and material resource may also in turn, encourage more researchers to venture into the field.

Moreover, another challenge that need to be addressed is lack of adequate information about RD cases. It is often difficult to collect sufficient data regarding patients with RD, particularly due to the diversity and scarcity of their condition. This is compounded by the fact that problems often arise in achieving an accurate diagnosis. Due to the limited sample size, it is difficult to achieve a conclusive results. One collective method that is already being employed in several countries is creating a national registry or database to keep track of RD patients in the country, thus allowing researches to obtain larger sample size from patients throughout their country. This move can be further strengthened by introducing the database at an international level, whereby researchers from several countries will be able to share the data with their counterparts across the world. Apart from increasing data input, the move will also encourage flow of ideas and collaboration among professionals involved.

Apart from that, when we look at the issue from the point of an ordinary medical student, it is clear that time will be one of the most challenging aspect for them, as medical students frequently have troubles juggling their studies with other aspects of their life. Due to existing time-constraints, they may dismiss individual diseases in the field as less important, since only a small portion of community is usually affected by it. Therefore, in order to combat this mind set and situation, it is important to integrate some aspects of RD into their syllabus itself so that they will realise the importance and work hard to master the area. On the other hand, if all assignments and tasks on RD are given externally or worse, not included at all, that in itself would indirectly indicate that it is of least importance and thus, the students may not take it seriously.

In final consideration, knowledge and awareness are essential aspects which should not be overlooked in order to effectively counter RD and their implications. Although many steps have already been implemented to tackle this issue, particularly in developed countries, these initiatives should be reinforced at a global scale by involving more medical students, medical professionals, patients, researchers and pharmaceutical companies so that together, we will be able to achieve a more admirable progress in various aspects of RD.

[i] Malaysian Rare Disorders Society 2016, About MRDS – Rare Disorders, viewed 10 November 2017, http://www.mrds.org.my/#layers-widget-column-3

[ii] Global Genes, Rare Disease Facts and Figures: 1 in 10 American is Living With a Rare Disease, Viewed 10 November 2017, https://globalgenes.org/raredaily/rare-disease-facts-and-figures/

[iii] Dharssi, S et al. 2017, ‘Review of 11 national policies for rare diseases in the context of key patient needs’, Orphanet Journal of Rare Diseases, viewed 11 November 2017, https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0618-0