According to a study on rare diseases published by Wakap et al. (2020), there are 6,172 unique rare diseases. Only half of these conditions have a designated support group. When a group doesn’t exist for a condition, patients and their families are left overwhelmed, frightened and isolated.
Importance of patient advocacy groups
Patient organisations are not a “nice to have.” They are vital.
When a rare diagnosis is made, patients and their families are simply handed a one-page Google printout of the condition and told to go home. Often, patients and their families are told not to Google the condition themselves for fear of what they’ll find. The alarming lack of knowledge, support and understanding from the healthcare sector propels individuals and families into isolation with more questions than answers.
According to Cystinosis Research Network (CRN) board member, Kristina Sevel, when she Googled cystinosis against the wishes of her care team, the information available on the internet was 10 to 15 years behind the current science. It wasn’t until she found the patient organisation, Cystinosis Research Network (CRN), that she received the proper leaflets and information on what cystinosis means for her three-year-old daughter, Grace, who was diagnosed at 14 months during the height of Covid.
It is evident that rare disease patient groups are the ones who pick up the pieces after a rare diagnosis. They provide the emotional and practical support needed to help members live with and manage their rare conditions. Patient advocacy groups are there to provide the understanding, support and medical information needed to make informed decisions about one’s health and treatment options. Without rare disease patient groups, rare patients and their families would be left overwhelmed, isolated and misunderstood.
Their importance and value cannot be ignored.
Jonathan Dicks, CRN President and VP of Development, summarises this perfectly when he states:
“Patient advocacy groups are essential; acting as the de facto collective voice for the rare disease community; a group historically under-served. They seek to be the driving force of progress; calling attention to the unique and nuanced needs of the rare disease community, coordinating a culture of change in a landscape where representation is hard to come by. Their continued efforts to increase timely access to meaningful care, mobilization of resources available, and the positive influence of health policy makes the role of these groups invaluable.”
Cystinosis Research Network: Cystinosis disease patient advocacy group
Patient organisations like Cystinosis Research Network (CRN) are one of the few outlets that can be turned to for credible information, understanding and support. CRN has fiercely advocated on behalf of the cystinosis community for better research, care and treatment since 1996.
For two decades, they’ve funded millions of dollars in research, sponsored eight biennial family conferences in the US and raised awareness of what it’s truly like to live with cystinosis.
The 5th Annual Cystinosis Awareness Day – May 7
The 5th Annual Cystinosis Awareness Day is the community’s opportunity to come together to celebrate and reflect on how far the research has come, according to Joe Rumney, who was diagnosed with cystinosis at 14 months. Joe is proud to be a member of the cystinosis community and continues to lean on humour to get through the tough days that cystinosis throws at him.
On this awareness day, remind those you love to never take their health for granted, as Joe does. Cystinosis is an invisible illness that 2,000 people worldwide are navigating behind closed doors; silently, relentlessly, passionately. Employment, mental health and physical health are all a challenge, but CRN and patient organisations are there to support individuals and families at every turn. Like we say at Beacon, no one should face their rare journey alone. Patient support groups ensure that no one must.
We’d like to leave you with these words of encouragement from CRN board member, Kristina:
“You will find a new normal. You will find your normal, catch your feet again and figure out how to move forward. Share your journey, share your story.”
Happy Cystinosis Awareness Day!
Watch Beacon’s full interview with Joe and Kristina for Cystinosis Awareness Day on CRN’s YouTube Channel to learn stories of cystinosis from a dual-perspective. Kristina is a caregiver from Ohio, USA and Joe has lived with cystinosis since birth in the UK. Watch, listen and share today.
CRN Family Conference Group Photo
CRN Family Conference Dinner Dance
Dr Bill Gahl – Scientific Review Board Chairperson
Inaugural Members Adult Leadership Advisory Board
This article was written by Beacon for rare diseases in support of the 5th Annual Cystinosis Awareness Day. Beacon is a UK-based non-profit organisation that is building a united rare disease community with patient groups at its heart. To learn more about their patient group trainings, guided programmes, community projects and research initiatives, visit their website: https://old.rarebeacon.org/
For partnership opportunities, email Blayne, Beacon’s Marketing and Engagement Manager, at blayne@rarebeacon.org