Better diagnosis and care for rare conditions

Genetic Alliance UK works to support the UK Rare Diseases Framework, which sets out the UK Government’s vision on how it plans to improve the lives of people living with rare conditions. Following stakeholder engagement, the Framework has four priorities and five underpinning themes. 

The four priorities are:

• Helping patients get a final diagnosis faster
• Increasing awareness of rare conditions among healthcare professionals
• Better coordination of care
• Improving access to specialist care, treatment and drugs

The five underpinning themes are: 

• Putting patient voice at the heart of decision making
• National and international collaboration
• Supporting pioneering research
• Harnessing digital, data and technology
• Aligning with wider policy 

Every UK nation committed to a Rare Disease Action Plan with specific measurable actions to implement the Framework, agreeing to review these plans annually.

Genetic Alliance UK is represented on the delivery and implementation groups in each nation working to deliver the Framework. To accurately represent the whole rare disease community we also provide a space for collaboration between the Framework representatives and other patient organisations through our Patient Empowerment Group (PEG).

The department for health in each of the UK nations and their arm’s-length bodies consult PEG to ensure that the rare disease patient community is informed and effectively represented in the implementation of the UK Rare Diseases Framework.

In 2020 we carried out a major survey of people living with rare conditions and their families to inform our work. The findings are summarised in Rare Experience 2020 which paints a detailed and vivid picture of the wide range and variety of experiences of people living with rare conditions in the UK. 

Our Patient Empowerment Group (PEG) is a collective of patient representatives who volunteer their time and expertise to help monitor and progress the implementation of the UK Rare Diseases Framework.

PEG is an independent group which develops opinion pieces and reports, from the perspective of people affected by rare conditions, on policy which is relevant to the rare community, principally the UK Rare Diseases Framework. These outputs are shared with policy makers to be considered whilst decision-making. 

In the UK, 1 in 17 people will be affected by a rare condition during their lifetime. 

Many will face significant challenges in getting a diagnosis, with more than a third of people with a rare condition having to wait more than five years. 

More than a third of people with a rare condition have to wait more than five years between first experiencing symptoms and receiving a final diagnosis. 

This delay can have a significant impact on a person’s quality of life and wellbeing. The sooner someone can get a diagnosis, the faster they can access care and support for their condition.

Our policy report Good Diagnosis highlights the significant support needs of people living with rare conditions and their families when they are seeking a diagnosis. 

If people do not receive a diagnosis at the end of their journey, this can result in a mixture of intense emotions, including frustration and anxiety. We lead SWAN UK (Syndromes Without A Name), the only UK support network for children, young people and their families affected by a genetic condition so rare that it does not yet have a name 

Many rare conditions are lifelong and complex. As a result, people affected by rare conditions often need support and expertise from a wide range of healthcare professionals such as GPs, specialist hospital consultants, specialist nurses. Physiotherapists, occupational therapists, speech and language therapists, and learning disability nurses. This can mean having multiple appointments across different settings and on different dates.

Effective coordination of care is essential to help people living with rare conditions and their families minimise the impact of these appointments on their busy lives. It also helps healthcare professionals to work together effectively and manage resources better to provide high-quality and joined-up care.

Our policy report Coordinating care: learning from the experiences of people living with rare conditions highlights how well-coordinated care can make a real difference to people’s quality of life. 

Our members contributed case studies of good practice across the UK.  You can watch a short video about the Alström Syndrome Centres of Excellence below.

Our work on care coordination has been informed by the well-respected CONCORD (CoOrdinated Care Of Rare Disease) research study. 

Only 1 out of 20 rare conditions have an approved treatment or medicine to help. 

It is hard to develop a strong evidence base for new treatments for genetic and rare conditions. The condition itself may be poorly understood, clinical trials often involve patients who are living in a number of different countries, and there may only be one or two specialist centres in each country with the clinical expertise needed to support the trial. It is also more expensive per person to develop a treatment for a rare condition, due to the small number of people who will benefit from it even if clinical trials give positive results.

We make sure the views of people living with genetic and rare conditions are heard in evidence-based decision-making processes about new treatments led by the Medicine and Healthcare products Regulatory Agency (MHRA), NHS England and National Institute for Health and Care Excellence (NICE) in England, Scottish Medicines Consortium (SMC) in Scotland and Welsh Health Specialised Services Committee (WHSSC) in Wales. 

We encourage ‘drug repurposing’ which considers whether it is possible to use existing medicines for common conditions in new ways to treat rare conditions. This work can be led by a pharmaceutical company that is willing to consider repurposing one its products or by the NHS medicines repurposing programme.

Advanced Therapy Medicinal Products (ATMPs) are medicines for human use that are based on genes, tissues or cells, and they offer ground-breaking opportunities for the treatment of rare genetic conditions. We co-chair the ATMP Engage, a Patient and Public Involvement and Engagement Working Group founded by the Accelerated Access Collaborative and now run by CGT Catapult. Through this group we make sure that people who may benefit from ATMPs are involved in their development and can make informed decisions about their use.

We publish short policy reports to highlight technical challenges faced by the rare condition community when accessing new medicines. Our recent reports include Managed Access Agreements: Shared Learning Roundtable and Advanced Therapeutic Medicinal Products (ATMP) Equity of Access.

Good mental health and emotional wellbeing is important to everyone. There is growing awareness of the importance of addressing the mental and emotional needs, as well as physical needs, of people living with long term conditions. 

This includes rare conditions, where a long journey to diagnosis, lack of coordinated care, low awareness among health professionals and few treatments can make it harder to cope.

Our policy report Living with rare conditions: the effect on mental health sets out the findings of a study carried out to help develop a fuller, clearer picture of the relationship between rare disease and mental health. 

If you are struggling with the impact of a rare condition and need to talk, you can look over our sources of support.

Supporting rare mental health during the Covid-19 pandemic

During the Covid-19 pandemic, we noticed an immediate impact on the mental health of those leading charities and support groups for people living with rare conditions. Many leaders in our community are driven by their personal experience of living with a rare condition or caring for a loved one who lives with a rare condition, which placed huge pressure on them personally at a time of significant professional pressure as demand for their charity’s services increased.

Genetic Alliance UK raised emergency funds to deliver the Building Rare Resilience programme in collaboration with RareMinds. The course gave staff from our member organisations the opportunity to take part in 12 weekly sessions to build their emotional resilience and wellbeing. 

We also delivered four Building Rare Resilience workshops in collaboration with two of our members, Beacon and RareMinds. Each workshop had over 50 attendees and focused on a different topic to help rare community leaders build skills to look after their own mental health while supporting their communities.