The role of regional grassroots communities in rare diseases

Jo Balfour

Operations Manager, Cambridge Rare Disease Network (CRDN)

Isolation is common amongst those affected by rare disease. Disease specific and umbrella organisations provide vital services and connect isolated patients, but can regional grassroots communities play their part?

The diagnostic odyssey for rare diseases is well documented, people typically waiting an average 4.8 years for answers and receiving many misdiagnoses along the way[1]. The implications for patients and caregivers are manifold and commonly lead to feelings of isolation, anxiety, frustration and stress.

One would expect the receipt of a diagnosis to be a magic bullet, the beginning of a brighter future and of hope. But to discover that you or your child has a disease that is relatively unknown and poorly understood, leads to further isolation and unique obstacles.

The Forgotten Patients

Rare disease patients are too often the forgotten patients. Around 50% of rare diseases have no specific patient advocacy group supporting or researching their condition[2].

Being isolated, marginalised and un-connected is highly toxic and can take its toll on the collective mental health of families.

Desperately seeking needles in haystacks

Disease specific support groups help families to connect, share stories and seek advice from others similarly affected. Often begun by families, they become significant, impactful organisations providing support, driving awareness and funding research.

National, European-wide and global umbrella organisations play a vital role in providing validated and trustworthy information and challenge to governments, and in supporting smaller advocacy groups.

But is there a need for a complementary regional, grassroots approach? Cambridge Rare Disease Network has been holding multi-stakeholder rare disease events for five years now and during that time has involved over 100 patient advocacy groups and many more affected individuals.

Over time, a common theme emerged. Although some were able to find comfort and empowerment from interactions offered by disease specific or national umbrella groups, collectively, they were searching for something else.

We want to be able to meet up regularly and do things with families local to us who understand our family.

Uniting communities with common concerns

A serendipitous invitation to take part in a charity ball led to the creation of our local rare disease families, Unique Feet. Beginning with just four children, each with a different rare condition, we worked with a dance teacher to create a moving performance for the ball.

Friendships blossomed, confidence bloomed, parents shared downtime, stories and ideas. Parents admitted to sometimes feeling isolated within their local communities, feeling misunderstood by schools and not catered for by local service providers.

They talked about wanting their child to have friends who understood them and who didn’t judge and to enjoy the company of local families who shared a unique understanding of what it is to be rare.

Now 12 families strong and growing, meet regularly to do a wide range of activities from horse riding to yoga and birthday celebrations to seaside trips.

Sue Berry and her daughter Charlotte were unsure at first if this group was for them. Sue is now an active trustee of Cambridge Rare Disease Network.

Sue said “it can be important to find others with the same condition, but those families can be widely spread. Unique Feet is not about that. We want to be able to meet up regularly and do things with families local to us who understand our family”.

The role of regional grassroots communities

Uniting local grassroots communities with common concerns helps reduce isolation. Problems stop being unique and become a serious service issue to be addressed.

Unique Feet have become friends offering acceptance, solidarity and support, but they have also become the voice for families affected by rare disease in our region as they become the group leaders, trustees of charities, they speak at events and engage proactively with the media to share their collective story and invite others to join them.

[1] Engel et al., 2013 | [2] https://globalgenes.org/rare-facts/