Holyrood reception to raise awareness of rare diseases

The number of Scots living with rare diseases totals more than the number of older dementia patients, campaigners have said.

Approximately one person in 17 will suffer from a rare condition at some point in their lives – with around 319,000 such patients in Scotland.

Genetic Alliance UK estimate that every day in Scotland eight children will be born with a rare disease – which is classed as one that affects less than five in 10,000 of the general population.

But with between 6,000 and 8,000 known rare diseases, such conditions will affect about 3.5 million people across the UK.

On average, disease patients wait four years before being diagnosed, the Genetic Alliance found, with people consulting an average of five doctors and receiving three misdiagnoses before their condition is confirmed.

The group campaigns for better treatment for those with rare conditions, with improved diagnosis one of its key demands.

And it said that while babies are tested at birth for nine conditions in Scotland, England and Wales, this “compares unfavourably to newborn screening programmes in most other high-income countries, who routinely screen at birth for over 20 conditions”.

The group wants the NHS to “introduce a comprehensive culture of best practice” for those with rare conditions, as well as providing sufferers with more information and support about their conditions.

Speaking ahead of a Rare Disease Day reception at Holyrood Genetic Alliance UK, chief executive Jayne Spink said: “One person in every 17 will live with a rare disease at some point in their lives – around 319,000 people in Scotland and more than the estimated number of older people currently living with dementia.

“People living with a rare disease in Scotland deserve the highest standards of care and support. Genetic Alliance UK welcomes this opportunity at Holyrood to raise awareness of the issues facing people living with rare diseases.”

Minister for Public Health, Sport and Wellbeing Joe FitzPatrick said: “I am pleased to have the opportunity to mark Rare Disease Day 2019 at this reception organised by Genetic Alliance UK and Rare Disease UK.

“This annual event provides an opportunity for the rare disease community to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

“We are committed to ensuring that all people in Scotland who are living with a rare disease are able to access the best possible care and support.

“We are working closely with colleagues in Scotland and the rest of the UK to ensure that patients can benefit from healthcare services that are safe, effective and put the patient at the centre of their care.

“Through our implementation plan ‘It’s Not Rare to have a Rare Disease’, we are working to ensure that commitments from the UK Strategy for Rare Diseases are implemented in Scotland.”

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