Rare Disease Day 2018


On Wednesday February 28th the world marked Rare Disease Day. This annual event was set up by EURORDIS, a European alliance of rare disease patient groups, in 2008, to meet a pressing need. There were lots of days representing sufferers of specific diseases like AIDS and cancer, but nothing to represent rare disease patients. The last day of February is particularly ‘rare’. Every four years, it is February 29th: a leap day.

This year, Rare Disease Day, and the period around it, featured 467 events in 92 countries. For the first time, this included Togo, Ghana, Trinidad and Tobago, Cape Verde and Syria. Patient groups, medical professionals and friends were asked to ‘show their rare’ by painting their face. Thousands of people did this, and #RareDiseaseDay trended on Twitter! Even David Cameron, our last prime minister, joined in. His story in the Times about his son’s struggle with Ohtahara syndrome was genuinely moving.



As we do every year, the AKU Society team were rushing up and down the country attending Rare Disease Day events. This is where we went.

On 14th February, Lesley, our Patient Support Manager, travelled to Cardiff for Rare Disease UK’s reception at the Senedd, home of the Welsh Assembly. It was good to hear about moves to establish a Cross-Party Group for Rare, Genetic and Undiagnosed Conditions in the Welsh Assembly. This will match what is already in place in the Scottish and British Parliaments.
The 100,000 Genomes Project was officially launched in Wales at the event by the Cabinet Secretary for Health and Social Services Vaughan Gething.
There was also a powerful and emotional personal story from Sarah Bennett-Evans, the mum of a 4 year old with Williams Syndrome. Wales is the only place where AKU patients are not given nitisinone by the NHS to treat their symptoms, and we can only hope that the situation will improve in future.

Rare Disease UK also held a reception in the Scottish Parliament building on 20th February. Reece, our Admin and Communications Officer, travelled up for the event. Scottish AKU patient Maureen McClure and her husband Brian joined him. They were impressed by the Members of the Scottish Parliament, Bob Doris and Maureen Watt, who gave their time to speak at this event. The star of the show, though, was the mother of a rare disease patient, Rebecca Pender. After her daughter Hannah was diagnosed with Chromosome 8p inverted duplication deletion syndrome, she became a rare disease advocate, writing books and going on television. No rare disease mother deserved the experiences that she had had with the health system, she said.

28th February was Rare Disease UK’s Westminster reception. Nick (CEO) and Ciarán (Clinical Trials Officer) were there. This Rare Disease Day Reception served as the launch of the second UK Strategy for Rare Diseases Progress Report, along with Rare Disease UK's ‘Understanding Children and Young People’s Experiences’, designed to understand how young people are affected by rare diseases. The Rt Hon Dame Cheryl Gillan introduced the speakers and commented on the importance of Rare Disease Day. Dr Jayne Spink, the new chair of Rare Disease UK, introduced the reports. She was followed by Steve Brine MP (Under Secretary of State for Public Health and Primary Care), who also commented on the importance of the strategy progress report. The highlight of the day was a moving speech from Sabah Jamil about her rare disease journey. She remains upbeat, positive and funny despite the challenges she has faced. It showed how necessary the patient voice is in underlining everything charities and governments do.

The theme of this year’s Rare Disease Day was ‘research’. While Nick and Ciarán were coming back from Westminster, Reece ended February 28th by going to a lecture series in Cambridge. This was organised by Cambridge Rare Disease Network, a new charity which helps rare disease patients in Cambridgeshire. The lectures, given by brilliant scientists, were fascinating and detailed. Reece learned about diseases like mitochondrial disease, PIK3CA related overgrowth and paediatric myelin deficiency. So much is being done to find cures.



Nick, Ciarán and Reece also went to the ‘Drug Repurposing for Rare Diseases’ conference on February 27th. This was hosted by our sister charity, Findacure, which Nick set up in 2012 to provide advice to rare disease patient groups after the AKU Society was overwhelmed with requests. Dr. Rick Thompson, Findacure’s CEO, opened the conference by explaining the importance of ‘repurposing’ drugs that are already being used for other diseases. Then we heard about some of the trials currently ongoing to repurpose drugs for specific rare diseases. Prof. Mike Briggs’ work on metaphyseal chondrodysplasia type Schmid and Emily Crossley’s talk on Duchenne Muscular Dystrophy were real highlights. Nick got a chance to talk himself. He told the audience about our own international clinical trial to repurpose nitisinone for use in AKU. It was a fascinating event which brought together members of the clinical trial community from all over Europe.



Photo credits: Findacure and Barbara Asboth Photography.




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