Medical Communications and Rare Disease: Putting Patients at the Heart. Insights from a Medical Writer

I clearly remember the reason that I wanted to be a scientist; I wanted to help people. More specifically, I wanted to help them when they were unwell. I toyed with the idea of becoming a doctor, and dabbled in both pharmaceutical and academic research, before finding my niche as a medical writer. Although I enjoyed the work, I kept returning to the question: am I helping people???

It wasn’t until I first had the opportunity to help support a rare disease community that I truly felt I could answer that yes, I am helping to make a difference. While medical communicators are an important piece of the healthcare ecosystem, for many well-served communities it can sometimes be difficult to feel you are contributing to making a difference to the most important individuals – patients. However, rare disease communities have historically been underserved and overlooked by their healthcare systems, typically not due to a lack of willing, but to a lack of funding, research, and education. While this is changing, it is a gradual process; even now only around 10% of all rare diseases have an approved treatment, and patients with rare diseases still see around five different doctors before receiving a correct diagnosis. Patients with rare diseases, and their communities, are some of the most passionate and knowledgeable individuals I have had the privilege of working with, but they are often the least likely to receive the support and advocacy that they need. This is an area where I believe medical communicators can help to support real change.?

Working as part of a medical writing team in rare disease has shown me that it is not enough to speak solely to healthcare professionals – there is a real need to engage and communicate with patients and their communities to elicit meaningful change. Perhaps the most striking example from my own experiences was being involved in generating a plain language summary to accompany a piece of complex clinical research around pregnancy in a particular rare disease. We received feedback that a patient had used the plain language summary to support discussions with their doctor about the risks associated with starting a family. Hearing how something that I had worked on had been used directly by someone living with a rare disease was both an extremely proud and humbling moment.??

Since starting in my career in medical communications I have noticed the beginnings of a very welcome shift, particularly in relation to rare diseases, towards a more patient-centric approach within healthcare communities and pharmaceutical companies. Evermore, patients are feeding back on clinical trial protocols and outcomes, sitting on scientific advisory boards, and being rightly considered as equals in determining their care. This is a trend I am excited to see continue to gather momentum. As patients continue to be elevated, I look forward to working more with them as authors, co-organising more patient-focussed meetings, and connecting patients and clinicians (among many more activities!).??

Patients are the heart; without them, there would be no need for the medical and healthcare fields. It is only right, therefore, that they are the focus of the work that these industries do. So, taking some time to reflect after this year’s Rare Disease Day, I think back to my younger self once more and am sure he would be proud that we are striving to support these communities and, in our own very small way, working to improve the lives of people living with rare diseases around the world.?

Alexander Hardy, PhD, CMPP.

Senior Medical Writer at Bioscript Group