Rare Disease Day: Millions to benefit from faster diagnosis and new treatments

Rare Disease Day has been marked with the promise of faster diagnosis and better access to treatment for millions of people living with rare health conditions.

This comes as England's first Rare Diseases Action Plan has been launched, which outlines how these goals will be achieved, as published by Health and Social Care Secretary Sajid Javid.

Roughly 3.5 million people in the UK live with some form of rare disease. Given there are around 7,000 different kinds of rare diseases, it is very difficult for healthcare professionals to receive training on every complex condition, or for patients to access the relevant specialist, the government reports.

People with rare diseases, such as muscular dystrophies (a group of inherited genetic conditions) or Huntington's disease (which affects the brain) are often faced with multiple appointments and referrals before receiving a diagnosis.

This can make it hard for individuals and their families to coordinate care, aside from the emotional impact of not understanding what's wrong.

The Action Plan, published on Monday 28th February, includes 16 key commitments to improve care. Its publication coincides with Rare Disease Day, a date dedicated to 'raising awareness and generating change for 300 million people worldwide living with a rare disease, and their families and carers'.

The new strategy aims to improve the medical world's ability to spot genetic conditions after birth. "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," said Health and Social Care Secretary Sajid Javid.

"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."

A key commitment is to improve newborn screening so diagnoses can be made earlier, such as a new research pilot using whole genome sequencing – looking at all your genetic material at the same time – to check for rare genetic conditions in apparently healthy newborns.

Read more: Meet the man with a disease so rare he's 'the only UK patient'

A new digital tool called 'GeNotes' will also be introduced, intended to allow healthcare professionals to quickly access information on rare diseases to improve the accuracy of the diagnosis and, in turn, provide the right care for patients.

Another action within the digital sphere includes developing a toolkit for virtual consultations such as video and telephone clinic calls, to help make them more effective, with technology currently seen as having challenges of its own. It is also hoped to make it easier for patients to navigate their care between multiple specialists, without the need for travel.

The Plan pledges to support access to new treatments through new programmes like the Innovative Medicines Fund, while continuing to work with the the National Institute for Health Care and Excellence (NICE) on new treatments being assessed.

Read more: Teacher, 28, often 'screams out loud' due to agonising rare disease

Other ways to improve the quality of care given include monitoring the uptake of drugs for patients with rare diseases, by measuring the number of people accessing a drug and comparing it with the number of those expected to access it. This is to ensure equality of care across the country.

The government said there will be will be tests for new approaches to care for patients with undiagnosed rare conditions.

While these are still in progress following consultations with rare disease patients and their families, they could include a holistic one-stop paediatric clinic, a more targeted adult neurology clinic or the use of virtual expert multidisciplinary teams.

These action points have been developed in partnership with NHS England and NHS Improvement, NICE, Health Education England, Genomics England, the National Institute for Health Research (NIHR), NHS Digital and the Medical Research Council.

Read more: Third of middle-aged adults have multiple health conditions, study suggests

Watch: Meet the man suffering from a genetic disorder which slowly turns his muscles to bone

"People with rare diseases deserve the best care and treatment," said Minister for Patient Safety and Primary Care, Maria Caulfield. "Marking Rare Disease Day 2022 by publishing England’s first Rare Diseases Action Plan is a significant step in supporting [those affected] to access even better coordinated care and treatment.

"We have listened carefully to people living with rare diseases to make sure their needs and priorities are placed at the heart of this plan. We will continue to work closely with the rare disease community over the coming year to develop this even further."

Professor Lucy Chappell, Chief Executive of the NIHR, added, "Around one in 17 people will develop a rare disease at some point in their lives, so while they are individually rare, cumulatively these diseases affect a substantial proportion of the population.

"The impacts on these individuals and their families are wide-ranging. Our research needs to continue to address early diagnosis, effective treatments and supporting them to live well with their conditions."

With the Rare Disease Day colours being blue, green pink, and purple, many are supporting the awareness day's campaign by 'sharing their colours' on social media – just use the #RareDiseaseDay hashtag to get involved.

You can also find useful information on Rare Disease Day's website, such as school toolkits to help start the conversation about rare diseases with teachers or young children.

There is also a special equity toolkit, to find out more about how, for those living with a rare disease, equity means social opportunity, non-discrimination in education and work, and equal access to health, social care, diagnosis and treatment.