Understanding Rare Diseases

Josh Hamilton, Creative Lead, explores how important patient stories are in understanding rare diseases – and the value of being able to share these stories in our experiences

I had never heard of FOP (Fibrodysplasia Ossificans Progressiva) until a year ago. FOP being a rare disease that affects 1 in 1-2 million people worldwide and the only condition known to medicine that causes muscles, tendons, ligaments, and tissue to turn to bone. 

Last year however, I had to develop an intimate understanding of this condition, having been tasked with designing a 24-hour immersive ‘A Life in a Day’ experience for healthcare professionals to better understand what people living with FOP experience on a day-to day-basis. 

Creating an authentic immersive experience for any rare disease requires a deep understanding of the condition. To fully comprehend all it’s subtle nuances and life affecting impacts, it is essential to see beyond the obvious physical symptoms. The best – and probably only – way to achieve this level of insight, is of course to speak to the people that understand it best of all. The patients.

Often, when you read patient accounts about any condition and stories online, the focus is on the condition itself, the physical impact, the diagnosis, the treatment pathway.

Our approach is different. To understand the patient experience and encourage patient focused behaviour, our focus is on talking to real people. To look beyond the purely physical impacts to try to uncover the often-untold truths of what it’s like to live with a condition. To ask what impact it has on your relationships, your work ambitions, your friendships, your self-esteem, and emotional well-being.

Often it may take several interviews with patients to build a relationship of trust, in which they feel comfortable sharing both the realities of their existence and the everyday stories that reveal the human, rather than the patient, behind the condition.

However, as a small, but well connected and highly committed group, the FOP community spoke with openness, honesty, and a willingness to share right from the very start.

It was profoundly affecting to speak with people so willing to tell you everything about every intimate aspect of their lives in the hope that people will hear them, understand them, and hopefully work harder to find something – anything – that could help them and others living with this horrific condition.

The stories we were privileged to listen to were full of heart-breaking adversity, triumphant resilience, and a passionate desire to help future generations by sharing their deeply personal experiences. And their hopeful honesty allowed us to gain new insight into how a rare disease impacts the individual, not just on a physically, but emotionally, socially, and psychologically. 

This is information that you simply cannot get from a textbook or medical journal.

And so, in support of Rare Disease Day 2023, we encourage you to listen to their stories here:

And, in line with A Life in a Day’s mission to increase the healthcare industry’s focus on patients, we ask you to search out and listen to the stories of other patient communities.

Because to truly understand any rare condition, it must be understood from the perspective of the people who live with it every single day.