This year's Rare Disease Day is all about equity. What does equity mean to you and your organisation?

"There are really two different thoughts that spring to mind when considering equity and rare disease. Firstly, the need to ensure that people living with rare diseases have fair and equitable access to medical care and treatment. Unfortunately, people living rare diseases rarely experience this, whether due to diagnostic delay, a lack of coordinated healthcare pathways, or inaccessibility of treatments. Secondly, within the rare disease community we need to work to ensure all of our projects and services can reach everyone affected by a given rare disease - when conditions are so rare, it is a huge issue if an intervention to support those affected inadvertently excludes part of that population. We have to ensure those solutions that do exist for rare diseases benefit all those that they should."

What needs to change in how society supports rare disease communities?

"I'd love to see the role that patient organisations play in supporting those living with rare diseases more widely recognised and supported. In general rare diseases are often viewed either as curiosities or individual battles against adversity. While these approaches can lead to benefit to individuals, they fail to recognise the community of people globally affected by a condition, and thus they fail to drive any systematic change. Patient organisations drive this change societally, within the research field, and provide the support and connections people need to learn to manage their conditions day-to-day. If society could provide more resources and support to these small charities, we'd see a more systemic change for rare disease patients."

In a few years' time, what would real progress on equality look like?

"I'd love to see rare conditions at the heart of the government life science and healthcare strategy in the UK and the care pathway given as much investment as the diagnostic. This would drive real change to the services all rare patients encounter, and bring them more in line with common conditions and cancer."

What does equity in rare diseases mean to you?

70% of genetic rare diseases begin in childhood. True equity can only be achieved when we have a health technology assessment system that recognises the distinct needs of children with severe, progressive, disabling conditions, and remove the structural barriers that currently prevent them accessing new treatments. 

Equity means a system that recognises the value of delaying or stopping disease progression and giving children more time to grow, learn and develop, to experience life and independence. It means valuing a child’s life in days, weeks and months and the opportunities these afford, not in Quality Adjusted Life Years.

What needs to change in how society supports rare disease communities?

Society must better recognise the lived experience of people with rare disease, which must inform how decisions are made about their care and treatment. 
We need urgent reform in how new treatments for rare paediatric conditions are assessed for use on the NHS. We must move away from adult-centric instruments and economic models which don’t work for paediatric conditions and demand unrealistic levels of evidence, which simply don’t exist in rare disease. 

We are calling for a dedicated children’s health technology assessment pathway. One that uses fair and achievable evidence standards to make timely and effective reimbursement decisions and recognises the unacceptable cost of delaying access to potentially life changing treatments for children and families.

This is vital to ensure rare disease communities are benefiting equally from scientific advances and that the UK isn’t left behind.

In a few years’ time, what would real progress on equity look like

Progress would look like children with rare diseases across the UK receiving timely, equitable access to care and safe, effective new treatments, regardless of where they live or their socioeconomic background. 
Treatments would be properly valued and approved through a dedicated new pathway, with the flexibility to manage inherent uncertainty. This new system would recognise the wider economic and social benefits of delaying or halting disease progression, which can be transformative for children with life limiting conditions and their families.

Families would experience a system that values potential gains made in childhood, recognises the realities of caring for a child with a rare disease and truly values their lived experience.