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The everyday impact of rare diseases: supporting your patient community

The impact of rare diseases go far beyond the physical – they have a significant mental and social impact too. But, in the quest to find treatments and address medical issues, these other areas are often forgotten about, pushed aside, and de-prioritised, leaving patients and their families without support in their ‘everyday’ lives.

Patient groups have a huge role to play here, which is why, on Thursday 17th January, we hosted our first workshop of 2019 on the everyday impact of rare diseases, and how patient groups can support their communities.


Throughout the day we focused on two main areas: the types of public and social services rare disease patients and families are likely to require, and how patient groups can support their access to these services, and, projects patient groups can run directly to address some of the day-to-day effects or limitations of rare conditions.

Rachel Gibson - Rare Conditions Officer, Contact

Our first speaker was Rachael Gibson, Rare Conditions Officer for Contact. Contact is a charity for families with disabled children, and they support families through the unique challenges this brings, helping them to feel valued and informed. After a brief introduction on Contact, Rachel discussed one of their larger projects – the Contact helpline. Their helpline provides free one-to-one advice, information and support to parents and carers with children up to 25 who have any kind of disability or additional need. The helpline covers a wide-range of issues, including finding local and condition-specific support groups, getting a diagnosis, social and child care, educational needs, and financial issues such as benefit entitlements. Rachel discussed the logistics of running a helpline, and the lessons they’ve learned over the years to ensure they provide the best services they can to the community.

Rachel also shared one of their face-to-face support projects – By you side. By your side is an initiative Contact started to provide support to families at the point of diagnosis, and directly in the hospital. They run a drop in service at a number of children’s hospitals around the country, and hold information stands and deliver workshops on a number of topics pertinent to families. Their parent advisors also visit families on the hospital wards, so parents can stay by their child’s side, whilst also having a friendly face to chat to, or shoulder to lean on. Finally, Rachel touched on the areas rare disease-specific patient groups can provide additional support, such as in-depth information on their rare condition, linking similarly affected families, funding research, and supporting adults.


Laurence Woollard - Director, On The Pulse Consultancy

After lunch, we looked at projects that patient groups themselves could run for their communities. Our first example came from Laurence Woollard, Director of On The Pulse Consultancy. Lawrence first shared his project at our Cambridge Rare Disease Showcase in August 2018, and we were keen to invite him back to delve into the background and inspiration of the project, the journey he’s been on, and lessons learned along the way. Laurence is one of three brothers, who have all inherited Haemophilia A – a rare bleeding disorder which affects the blood’s ability to clot.

Living with Haemophilia requires a lot of self-management, but research has shown that support in this area is lacking for young people who are transitioning from paediatric to adult services, which mirrors Laurence’s own experience. As a result, it can take more than 10 years for young people to move from first practicing to self-infuse, to a point where they are effectively self-managing their condition. As Lawrence shared, this, combined with a person’s lifestyle choices, can have a huge impact on the physical and mental wellbeing of patients.

Laurence wants to address this by establishing a peer-led education project that will provide opportunities for young people to come together and share their lived experiences, and understand the challenges their condition presents. The hope is that, through peer support, young people can learn from one another and feel empowered to take control of their healthcare choices.

Lesley Harrison - Patient Support Manager, AKU Society

Our next talk came from Lesley Harrison, Patient Support Manager at the AKU Society. The AKU Society supports patients affected by Alkaptonuria, a rare genetic disorder which causes bones and cartilage to become black and brittle. The effects of this condition include progressive back pain, stiffness, large join arthritis, joint paint, and black and brittle heart valves. As a result, many everyday tasks become painful and difficult, patients often struggle to stay in work, some endure multiple joint replacements, and there are psychological impacts too. There are additional dietary adjustments patients must make if they are prescribed with nitisinone – a drug currently being trialled for treatment of AKU.

Lesley explained the importance of patient groups playing a support role in these areas, and shared examples of some of the many initiatives the AKU Society have implemented to assist their community. These have included developing a controlled protein recipe booklet for patients taking nitisinone, identifying home equipment to make everyday tasks more accessible, conducting home support visits, and providing funding for patients who require mental health counselling.

Ann Kerrigan - Patient Representative, AKU Society

Our final talk came from Ann Kerrigan, a patient living with AKU. Ann shared her personal experience with the condition and discussed the value of the support she has received from AKU Society over the years. Ann explained how her eventual diagnosis of AKU came hand-in-hand with redundancy from her job. As a result of the pain, continuous hospital appointments, and recovery time required from multiple joint operations, Ann has never been able to work since. Ann explained how useful the AKU Society’s support has been to her: she uses and submitted an entry to the protein controlled recipe books, she has attended AKU patient workshops – allowing her to meet others in the community – and received home visits from Lesley. She explained how, for much of her journey she was alone, without information and without anyone to talk to, but the AKU Society has given her a place to receive help, guidance and invited her to the National Alkaptonuria Centre so she could undergo tests and receive treatment. Ann no longer feels isolated and spends her time volunteering as a patient-expert, teaching medical students at the University of Bristol.



The everyday impact of rare diseases: supporting your patient community

by Mary Rose Roberts time to read: 7 min