European Congress on Rare Diseases (ECRD) was held virtually over the week following the Glastonbury festival. Like the fabled festival of contemporary performing arts, there are often moments that define the event, and you need to be patient and/or lucky to witness them. Each day, there was a packed afternoon agenda, including topics on driving policy change and reducing inequalities, as well as an afternoon on sustainable partnerships with the healthcare industry.
My “moment” appeared on late Friday afternoon during the final plenary. It was framed by earlier recognition that a new generation of “Rare Titans” is required to guide leadership toward better outcomes for people living with rare diseases. With that, up stepped a group of representatives from the Rare 2030 Young Citizens Panel. They were tasked with providing their perspectives on what change was urgently needed to meet the needs of patient communities, and here is my summary of their truly impactful messages.
Dorothea Darig, a consultant in Public Affairs in Belgium, kicked off the meeting reinforcing the message that young advocates demand a new policy framework for rare diseases in Europe. She went on to outline four key areas that require focus to deliver on the needs of rare communities:
- Cross-country collaboration and implementation, to ensure best practice sharing. On this point, she communicated that there is still a need to establish the concrete impact of the European Reference Networks as they have an important enabling role in disseminating’ best practice.
- Better provision of mechanisms to not only improve rare disease research into new therapies, but also into social research to better understand individuals’ needs and the burden of living with a rare condition.
- More attention placed on holistic care, including mental and reproductive health service provisions.
- Better education of healthcare professionals to reduce the diagnostic odyssey and improve patient experience.
Next up was Danielle Drachmann, founder of Ketotic Hypoglycaemia Europe, who gave an impassioned speech with remarkable impact. At one point, she asked everyone to put down their mobile phones, take note, and act – I can’t be the only person to immediately respond to this request!
She described how she had become an expert by “necessity, not choice”, and that patients, families, and their healthcare professionals are successfully forming partnerships to research rare diseases and new treatments. She believes that co-created research holds significant potential for positive progress for people living with rare diseases, but it is slowed by lack of funding and a subsequent reliance on parents and over-stretched physicians. Danielle’s plea was for European and national plans to help fund, coordinate, and develop robust infrastructure to deliver these partnerships.
If you’d like to read more of Danielle’s speech, you can access it here (I would recommend that you do!):