Joint Interim Chief Executive, Genetic Alliance UK
Everyone living with a rare condition needs to have a say in action plans to deliver the UK Rare Disease Framework.
The UK Rare Diseases Framework (January 2021) replaces the UK Strategy for Rare Diseases, which ended in 2020. We need to get the action plans for the four nations to implement the Framework published as quickly as possible to maintain momentum from the Strategy.
Despite the seven years of the Strategy, there is still an enormous amount of progress that needs to be made for people living with rare conditions to have as good an experience as possible.
Our 2020 survey of more than 1,000 people living with rare conditions found a complex picture of slow diagnoses, multiple misdiagnoses, barriers in referral and lack of awareness of rare conditions among healthcare professionals. There were pockets of excellent experience, showing that the NHS can be great for people living with rare conditions, but many respondents faced dispiriting challenges in accessing excellent care.
Meeting everyone’s needs
A 2019 survey by the Government – the National Conversation on Rare Diseases – gives the basis for the priorities of the Framework. Though the response rate was high, above 6,000, the breadth of diversity of response was narrow, with a majority of the individual responses coming from white females over the age of 45.
The design of the action plans is an opportunity to add detail to the four priorities, to be specific about outcomes, how we will measure them and to fit the priorities to the four NHS’ of the UK and their individual needs. It is also a crucial opportunity to reassess these priorities to check that they capture the needs of everyone living with rare conditions.
Our platform must not act as a barrier to others. We need to share it and, when we are not the right voice for a particular topic, we must hand it over to those who are.
Opening new dialogues
To do this, all of the usual suspects – not least Genetic Alliance UK and its membership – need to start new dialogues, review how we connect with people, make connections and check we are as open as we think we are. Credit to Breaking Down Barriers, the #WhoseVoiceIsItAnyway campaign from RareQoL and Medics4RD for leading the way on this.
We might not feel as if we are part of the establishment, but if we have the privilege of expecting to be invited to the working groups that deliver new policy, then we surely are. Our platform must not act as a barrier to others. We need to share it and, when we are not the right voice for a particular topic, we must hand it over to those who are.