When does rare not mean rare?

When it’s Rare Disease Day! Today, February 29th (the rarest day in the year) is Rare Disease Day 2016. A rare disease is defined by the EU as one that affects fewer than one in 2,000 people. But, add together all those rare diseases and one in 17 people – 3.5 million in the UK – will be affected at some point in their lives.

There are over 6,000 known rare diseases, including genetic diseases and childhood cancers, and goodness-knows how many undiagnosed conditions like Benjamin’s. Rarity and poor rates of diagnosis go hand-in-hand. Often, a diagnosis means very little because there are so few cases of the same disease that even knowing its cause doesn’t help with a treatment or prognosis.

Nearly half of rare disease patients have to wait more than a year for a diagnosis; for one in five, the wait is over five years1

Rare Disease UK is, like its sister organisation SWAN UK for undiagnosed children, an initiative of Genetic Alliance UK. Last year these organisations worked together to set up an All-Party Parliamentary Group of UK MPs on rare, genetic and undiagnosed conditions, chaired by Ben Howlett MP. Their inaugural meeting was held earlier this month, and was addressed by fellow SWAN mummy and star blogger Alison, who explained what it’s actually like to have a child with a rare, undiagnosed condition.

More than one in ten rare disease patients have to attend more than five different clinics for their condition1

In 2013 the Department of Health published a UK Strategy for Rare Diseases, which aims to ensure those affected by rare diseases are informed, listened to and consulted, to develop better methods for identifying, preventing, diagnosing and treating rare disease, and to improve the coordination and personalisation of care for those with rare diseases. Although all four countries of the UK have signed up to the Strategy, Rare Disease UK is still campaigning health departments to implement it.

Thirty percent of rare disease sufferers will die before their fifth birthday2.

In 2017, Birmingham Children’s Hospital plans to open the first Children’s Rare Disease Centre in the UK, providing coordinated care, treatment, support and hope. The centre will cost £3.65 million to build. To support BCH’s Star Appeal, visit their webpage or text STAR to 70800 to donate £5.

Thanks to initiatives like these, rare diseases are no longer completely unheard-of. But many rare disease sufferers still feel that their voices go unheard. The theme of Rare Disease Day this year is ‘Patient voice.’ Today, that voice is shouting a little louder.


1 http://www.raredisease.org.uk/documents/RDUK-Family-Report.pdf

2 http://www.eurordis.org/sites/default/files/publications/Fact_Sheet_RD.pdf


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