Action Plan brings relief to millions for Rare Disease Day 2022

England’s first Rare Diseases Action Plan has been published to mark Rare Disease Day 2022 (February 28).

New technology and digital tools will support faster diagnosis, and improvements to virtual consultations will make it easier for patients to see multiple specialists at once.

The plan was announced by Health and Social Care Secretary Sajid Javid and includes 16 commitments to further improve care and has been developed in partnership with NHS England and NHS Improvement, the National Institute for Health and Care Excellence, Health Education England, Genomics England, the National Institute for Health Research, NHS Digital and the Medical Research Council.

Drawing on the UK’s strengths as a global leader in science, the Action Plan includes commitments on research, including an announcement of £40million of new funding to the National Institute for Health Research (NIHR) BioResource, to further their work in characterising and understanding rare diseases.

The Action Plan will also help increase the ability to spot genetic conditions during the screening of newborn babies.

Health and Social Care Secretary Sajid Javid said: “This action plan will speed up diagnoses and care and allow our fantastic workforce to better support patients, by drawing upon the UK’s world-leading science and technology.

“I am committed to levelling up our health system so that everyone regardless of their condition can receive treatment that is tailored to their needs.”

There are more than 7,000 rare diseases, affecting an estimated 3.5 million people in the UK. Their complex nature means it is difficult for healthcare professionals to receive training on every condition or for patients to access the relevant specialist. People living with rare diseases, such as muscular dystrophies or Huntington’s disease, can go through multiple appointments and referrals before a diagnosis is made due to the complexity of conditions, making it difficult for individuals and their families to coordinate their care.

Nick Meade, director of policy of Genetic Alliance UK said: “Rare Disease Day is great timing for this step forward. The delivery of this plan despite the challenges of the current environment shows the commitment of the delivery partners to make meaningful progress.

“Our community’s voice has been heard more than ever in the development of this plan. This collaboration has helped us see how well these priorities of diagnosis, awareness, coordination and care can combine to have an impact greater than the sum of their parts. We are excited to move into the implementation phase and to see real improvements for people living with rare conditions.”

To highlight the challenges faced by those with rare diseases on Rare Disease Day, the family of 11 year old Eilidh has shared their remarkable story.

Eilidh was six when she was diagnosed, but it only came about because her parents Vaila and Ewan enrolled her in a UK research study aged two. During Vaila’s pregnancy everything was normal, though after birth some of Eilidh’s reflexes were slower than expected.

There were several other concerns, although many of these issues were understandably dismissed as ones that babies tend to have at that age.

However, with time came more worrying signs. Eilidh had a hole in her heart, and unlike other babies who have the condition, it did not heal so she had an operation when she was aged two.

As she developed, Vaila and Ewan noticed Eilidh was not meeting certain development milestones, and the family were told more work was needed to unravel the mystery.

After relocating out of London and getting established with healthcare services in Cambridgeshire, Eilidh went on to have many hospital appointments and tests, including genetic tests. However, these all seemed to rule out a genetic cause for her symptoms.

When she was two-and-half-years-old the geneticist at Cambridge University Hospitals NHS Foundation Trust looking after the family suggested they consider enrolling in the Deciphering Developmental Delay (DDD) study.

This involved exome sequencing, sequencing the protein-coding part of the genome. The family also reached out to SWAN UK, a dedicated support network for families of those with a genetic condition so rare it often remains undiagnosed.

Its aim is that every family gets the support they need, when they need it, regardless of whether they have a diagnosis or not.

“Connecting with other people in a similar situation was empowering,” said Vaila Morrison. “It made us realise that there are many other people who also have been unable to get a diagnosis.”

Vaila added: “The rare disease community is very diverse. Everybody has very different symptoms though the challenges are the same. It’s a stronger community working together than the individual syndromes fighting to be heard.”

However, four years later, the result of the DDD study came through confirming that Eilidh had KAT6A syndrome, an extremely rare genetic neurodevelopmental disorder. It is caused by a genetic variant in the KAT6A gene, that codes for the KAT6A protein.

Armed with new knowledge, the family reached out to the Cambridge Rare Disease Network (CamRARE), which regards itself as a ‘platform for change’ helping to unite patients, advocates, experts and leaders to address the challenges faced by people affected by rare diseases.

And then they were signposted to Unique Feet, a CamRARE initiative that provides a safe and welcoming space for children with any rare condition to meet locally for fun, friendship and confidence-building activities.

Studies like the DDD Study and the 100,000 Genomes Project have paved the way for the introduction of exome sequencing and Whole Genome Sequencing for rare disease diagnosis into routine NHS care.

This means that many other patients and families will gain answers to their diagnostic odysseys more quickly, and more information and support should be available sooner to help care for those affected by rare disease.

Professor Dame Sue Hill, chief scientific officer for England, said: “With genetics playing a role in over 80 per cent of all rare diseases, genomics can be vital in delivering faster and more accurate diagnoses, as well as more effective treatments. The NHS Genomic Medicine Service is therefore key to helping more patients get the right treatment quicker and supporting this new action plan.”

The plan follows the UK Rare Diseases Framework announced last year which set out priorities for all four nations to speed up diagnosis, raise awareness and improve treatment and care.

The devolved administrations will publish their own action plans by the end of 2022.

“Our regional Unique Feet community of children and families affected by rare conditions have helped us to share their stories, as this is their day most of all,” said Jo Balfour, managing director of CamRARE.