Dr Rick Thompson
CEO, Beacon: for rare diseases
Banding together with those who share a similar life experience allows us to receive the help needed in challenging situations. But what do you do when your life is an ultra-rare one?
Finding others who are affected by your condition around the world is a way to widen your support network and identify common challenges you share with other rare conditions.
These approaches are increasingly used in rare disease patient advocacy, as we saw first-hand during Beacon’s International Rare Disease Showcase. International patient organisations are becoming more common and impactful. Whether formed as social media communities due to the extreme rarity of the condition (like Acrodysostosis Support and Research) or through the coalition of national disease-specific organisations (like SMA Europe), they all help to connect people globally.
Collaborations drive change
SMA Europe’s European Alliance for Newborn Screening highlights what these groups can achieve. By uniting academics, patient organisations and pharmaceutical companies, they are implementing a systematic screening approach for spinal muscular atrophy across Europe by 2025. This will ensure that treatment is started early enough to prevent a life of severe disability for hundreds of children.
All that rare disease patients and their families care about is that someone, somewhere, is trying to improve their quality of life.
These collaborative projects are key to success in rare diseases. Whether it is a conference for rare disease patient organisations across Africa or a single patient-researcher moving internationally to collaborate on treatments for their own rare condition, global interactions drive change. Borders and sectors become obsolete. All that rare disease patients and their families care about is that someone, somewhere, is trying to improve their quality of life.
Patient groups to the fore
Patient organisations fill this role. They use their personal understanding of rare conditions to push for change. In the US, the Chan Zuckerberg Initiative has recognised this vital niche, committing hundreds of thousands of dollars to support the growth and development of patient groups through their Rare As One program. We in the UK must do more to support these groups to deliver crucial work and collaborate with others worldwide.
