Written by Gavin Jones, Global Advisor Rare Diseases on Friday 15th July 2022
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:
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!):
Oriana De Souza, an advocate resident in Portugal, took up the baton from here, describing her experiences of being diagnosed and treated for a rare cancer. She believes that this area has been developing at a slower rate than more common cancers because it has been poorly supported. At the time of her diagnosis, it was clear she needed to “self-advocate to save her life”, and with support from her family, she eventually managed to undergo cross-border treatment with an off-label therapy.
Her messages for change centered around the better integration of people living with rare diseases, recognizing their individual needs, providing better health and social care, and celebrating the value they can bring to the world. To avoid silo working, she advocated for a European-wide plan for rare diseases in the image of the EU Cancer Plan.
Adela Odrihocka another leading advocate was the final speaker of the session and, as a resident of the Czech Republic, she first recognized that with their EU presidency commencing, they have an important role to play in prioritizing rare disease policy during their term.
Adela’s words have been clearly shaped by what she describes as “traumatic experiences and a non-existent support system” as she has come to terms with living with a rare condition. She has pushed for action so other people don’t have to go through the same experiences. She recognized that communities with rare diseases are always being asked to wait (for a new framework, new treatment, a cure) and enough is enough. She demanded action and called for a systematic approach to ensure that equality of care and the most basic of rights were provided to all.
So, this was my ECRD “moment”. This congress encourages and inspires individual mobilization and action and I certainly was inspired after listening to these next-generation Rare Titans!
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