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Date: 5 April 2020

Time: 11:13

Centre for Rare Diseases team

Rare Disease Day 2020

Story posted/last updated: 13 March 2020

Rare Diseases Day 2020 was marked with an awareness stand in the QEHB atrium, highlighting the rare diseases work being done across University Hospitals Birmingham (UHB).

UHB has a specialist Centre for Rare Diseases, based within the Institute of Translational Medicine in the Heritage building.

The Centre provides a one-stop clinic for rare disease patients to see all specialists and the wider team, as well as have all pre-planned tests, all in one visit. Currently, 85 clinics run across 19 specialties, with an average of 1,000 appointments a month.

Rare Disease Day has been held since 2008, with the first event on the “rare” date of February 29. 

There are over 6,000 rare diseases classified in the UK. Of these, 80 per cent have a genetic basis and surprisingly, one in 17 of us will be affected by a rare disease in our lives.

One rare disease patient, Chris Lyons, tells us his story:

Chris Lyon, who lives in Lancashire and is 36, was diagnosed with Alström syndrome when he was 19.

Alström syndrome is a very rare disease that has a number of symptoms including blindness, hearing loss and heart issues.

Chris, who has been coming to the Centre for Rare Diseases since 2012, said: “The benefits of the Centre are that you get everything done over just one and a half days. It’s also really good that I can have a round the table meeting with all the consultants and hospital staff.”

Although Chris is blind and deaf, a recent cochlear implant has meant he can continue with his passion for music. A keen fan of independent music, Chris has also released two albums.

Thanks to a low fat diet and advice from UHB staff, Chris no longer has type 2 diabetes. 

Chris also has support from Alström syndrome UK. The national charity, funded through an honorary contract with the NHS, helps dozens of families across the UK.

You can find out more about the support Alström syndrome UK provide in the "Links" section below.

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