Unpacking the 2024 England Rare Disease Action Plan 

06/03/2024

Rare Disease Day 2024 (29/02/2024) saw the publication of the third England Rare Disease Action Plan. Rare conditions are individually rare but collectively common, affecting 1 in 17 people in the UK at some point in their lifetime. Almost half of the 7,000 known rare conditions are neurological.

The latest action plan builds on the 2021 UK Rare Disease Framework and previous plans published in 2022 and 2023 with a continued focus on four priority areas:

• Faster final diagnoses
• Increased awareness among healthcare professionals
• Better co-ordination of care
• Improving access to specialist care, treatment and drugs

Alongside a progress update on the 29 actions set out in previous plans, the 2024 action plan includes 7 new actions aligned with the priority areas above.

We were pleased to support the development of the latest action plan as members of the England Rare Disease Action Plan Patient Advisory Group. This included attending a series of meetings and providing feedback on earlier drafts to the Department of Health and Social Care, informed by consultation with our rare conditions members.

Access to mental health support

The Alliance has previously raised concerns about the lack of actions to improve access to mental health support for people with rare neurological conditions. We know that some people with rare neurological conditions, including Huntington’s Disease, are refused access to mental health support due to their neurological condition.

We welcome the action taken by NHS England to remind Integrated Care Boards (ICBs) and providers that mental health services should not exclude anyone as a result of their neurological diagnosis. There is also a requirement for all new and revised NHS England service specifications to consider a person’s psychosocial needs and ensure coordinated mental health support.

We will continue to closely monitor the situation regarding equity of access to vital mental health services and support for the neurological community, including people with rare neurological conditions.

Transition from paediatric to adult services

Action to improve the transition process from paediatric to adult services for people affected by rare conditions were included in the 2023 action plan. This is a vital issue for many young people affected by rare neurological conditions and those who support them. Findings from My Neuro Survey showed that 84% of young people in England were not offered a named worker to support the transition to adult services, but would find this helpful.

Following a public consultation, NICE published an update to the transition quality standard including a new statement on the need for a “co-ordinated transition plan”, developed by all relevant services together with young people and their families or carers, setting out when and how their care will move to adult services. The Alliance supported the new statement in our consultation response. However, we know that many services do not provide transition support as recommended by NICE.  This must change.

Rare Diseases Quality Standard

Agreed standards of care are really important in driving improvements and tackling variation in health and care services. Through the work of the UK Rare Diseases Forum, a group set up to inform and support the delivery of the Rare Disease Framework and national action plans, an Independent Advisory Group was established to scope a potential quality standard for rare diseases.

Quality standards are developed by the National Institute for Health and Care Excellence (NICE) and set out what good looks like for specific services and include clear actions to improve care and track performance.

We’re pleased to have been invited to support this work as members of the Steering Group. We will work with our rare conditions member organisations to ensure any potential rare diseases quality standard delivers for people affected by neurological conditions.

New actions for 2024

New actions included in the Rare Disease Action Plan for England from 2024 include:

• Implement “networked models of care” for people with rare diseases. This will help people affected by neurological conditions and professionals access specialist expertise is available, whilst allowing people to be treated and cared for as close to home as possible
• Map and measure the geographic spread of people  accessing highly specialised services. Highly specialised services are delivered in a small number of expert centres, usually no more than three, and have small caseloads (usually no more than 500 people). The mapping will build on previous data from 2020.
• Developing a genomics communication skills resource to support the training of healthcare professionals in conversations about genetic testing.
• Developing the specialist genomics workforce through the Genomics Training Academy (GTAC)
• Develop a funding mechanism that should encourage centres to undertake whole body scans on individuals with rare genetic conditions, resulting in a predisposition to developing cancer prematurely
• Review the effectiveness of the Innovative Devices Access Pathway (IDAP) pilot in supporting access to medical devices, including diagnostics, for people living with rare conditions.
• Publish and disseminate a health inequalities toolkit, to support people working within highly specialised services to reduce health inequalities.

Ensuring the plan delivers for people affected by rare conditions

Delivering on the actions and priorities of the Rare Disease Framework and Action Plan is more important than ever. People with neurological conditions, particularly rare neurological conditions, are waiting too long for support. At the same time, the way in which NHS and care services for people affected by neurological conditions are planned and provided is changing.

 We will continue to work with the Department of Health and Social Care and engage with system partners to ensure that these changes work for our community, including our rare disease community.

We also need to see action from government to address the chronic shortages facing the neuro workforce. Without significant increases in the number of healthcare professionals, or action to more equitably distribute specialist knowledge across the country, the necessary improvements to services and support for people with rare neurological conditions will be undeliverable.

It is vital that the UK Rare Disease Framework and national action plans deliver meaningful improvements in treatment, care and support for people affected by rare neurological conditions.

We need to see action to improve indicators and metrics for assessing if and how this work is improving outcomes and experience, developed with people affected by rare conditions and those who support them.