Reflections on Rare Disease Day

Key takeaways

~300 million people worldwide have a rare disease
Lack of awareness impacts opportunities for diagnosis and treatment
Identifying unique attributes to reach a definitive diagnosis is essential
For communications to be effective, consideration of the daily lives of those living with a rare disease is crucial

Rare Disease Day

Rare Disease Day is an important day for us as a healthcare communications agency. First and foremost, it offers an opportunity to elevate the profile of rare diseases, and encourages you to check out the good work being done over at Rare Disease Day. But it also offers us an opportunity to reflect on the work we carry out at AMP27, and share some thoughts and learnings on how we can improve our activities.

Individually rare, but collectively common, 300 million people worldwide are living with one of ~7,000 rare diseases.^1,2 This combination of scarcity but high impact causes a number of challenges, from lack of awareness and funding, through to difficulties in orchestrating treatment for complex care needs.^3,4

As Principal Medical Writer at AMP27, I've been fortunate enough to be working in rare diseases for a while now, and two recurring themes stand out in my mind.

The impact of a missed or delayed diagnosis can be devastating

All too often I've heard about instances where an early diagnosis could have either helped a child with a rare disease access life-changing treatment sooner, or offered parents access to genetic counselling that they would greatly benefit from.

We hear about people being moved from department to department trying to find the root cause of an illness. Or worse, having that illness dismissed as something far more benign. In hindsight, these missed opportunities are hard to swallow, knowing that if only the patient was referred to a certain specialty, or a certain test was requested, outcomes may have been different.

This is by no means a reflection on healthcare professionals (HCPs), but a reflection on the very real challenge of rare diseases being a complex, diverse array of conditions.

The resilience of people living with rare diseases is unparalleled

Having spent time with families of children living with rare, life-limiting neuromuscular disorders, many things stick with me. From hearing about the devastating emotional blow of receiving a diagnosis, to appreciating the many adaptations required to carry out daily activities, rare disease can completely turn lives on their head and impact families in ways that others struggle to fathom.

But the thing that I remember most from my time working with these families is their resilience. The way they adapt, how they make the most of the time they have together, and how they get everything they can out of life, is inspiring and moving.

I recall when I first met with one such family. I expected conversations to be full of sadness, but was met with anecdotes of typical teenage disdain for doing homework, and of parents walking downstairs to discover their child secretly gaming into the early hours of the morning, trying not to make a peep. Seeing them navigate life with this shared joy was a real eye-opener for me.

How does this shape the work we do as an agency?

Delivering clear communications to support prompt diagnosis

Diagnosing rare diseases is inherently difficult. HCPs may only see one or two cases of specific rare diseases across their careers. Throw in the fact that symptoms often widely overlap between conditions, and we have a real challenge on our hands; a challenge that requires us to think differently about our communications.

We need to ensure the right HCPs know the key signs and symptoms to look out for, know the suitable tests to request, and are aware of the appropriate referral pathways to ensure that a definitive diagnosis is achieved as soon as possible.

We can only achieve this through delivering clear, memorable messaging to key individuals, using the most appropriate channels available to us. Knowing that the HCPs we interact with use digital channels as all of us do, we harness the power of social media, and other media, to share messaging where it is most likely to be seen and digested.

Keeping those living with rare diseases front of mind

As a medical writer working from a desk, it's all too easy to get caught up on the details; obsessing over semicolons, triple-checking hazard ratios, correcting my spelling of aspartate aminotransferase for the 4,383rd time. Important as these are, by just focusing on the technical delivery we lose sight of the most important aspect – the why.

Keeping those living with a condition front of mind helps develop projects with a purpose. It helps keep communications relevant and more likely to have an impact. Personally, the experiences I’ve had interacting with families living with rare diseases keep me motivated and passionate about what I do. Having recently become a dad myself, the impact of these interactions has only deepened, and my awe and respect of families coping with the most difficult of circumstances continues to grow.

I encourage anyone working in this space to hear from those living with a rare disease. Hear about their quality of life, not from a composite score presented in a research article, but directly from the source. Listen to the extra steps involved in making breakfast, how their offroad wheelchair has opened up a new world to them, how they have mastered underwater handstands in their physiotherapy sessions.

Through understanding the lives patients with rare diseases are living, we can really deliver work that has impact.

References:

Nguengang Wakap S, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–173.
Haendel M, et al. How many rare diseases are there? Nat Rev Drug Discov. 2020;19:77–8.
Li S, Hua Y. Holistic support for children with rare diseases. Lancet Child Adolesc Health 2024. https://doi.org/10.1016/S2352-4642(24)00045-2.
Groft C, et al. Progress, challenges and global approaches to rare diseases. Acta Paediatrica. 2021;110: 2711–2716.

About the author: Phil Collins

As Principal Medical Writer at AMP27, Phil draws on his 8+ years of experience in healthcare communications to plan and deliver impactful and accurate content across diverse therapy areas. When not behind his desk, he can most likely be found either changing nappies or walking his dog. And before you ask, no, he does not play drums. Find out more about the AMP27 team.