On Thursday 14 February, Genetic Alliance UK held the first of its 2019 parliamentary receptions in the Senedd, Cardiff, hosted by Darren Millar AM. The event was well attended by stakeholders from across the rare disease community. During the reception attendees were provided with an update on progress made delivering the Welsh Rare Disease Implementation Plan from Dr Graham Shortland. An annual update detailing progress over 2018 is due for publication soon and will also look at some of the challenges in implementation and the priorities for the upcoming year. Dr Andrew Fry from the All Wales Medical Genetics Service spoke at the event about the challenges and opportunities of genomics in Wales for rare disease patients.
Attendees also heard from three patient and parent speakers. Fern Cockrell and her mother, Sally-Anne Ashdown gave their perspectives of living with chronic inherited pancreatitis – a condition that means Fern is in constant pain. Latifah Charles joined them in providing the parent’s perspective of sickle cell disease. Latifah outlined how her local hospital had never seen a patient affected by sickle cell prior to her twins’ diagnosis. Sickle cell disease makes individuals susceptible to infections, so for Latifah’s family, raising awareness and education about the condition and its effects within the healthcare profession, school and the workplace has been incredibly important to help prevent this.
Genetic Alliance UK’s new ‘Illuminating the Rare Reality’ report was also launched to coincide with Rare Disease Day. This report brings to light the difficulties people living with a rare disease face in accessing the care and treatment they need, and underpins the call for a refresh and review of the UK Strategy for Rare Diseases. Mishal Dattani provided an account of his experience of the rare condition Budd-Chiari syndrome. Mishal experienced a number of challenges in accessing the right care and treatment. At one point he was told he would need a liver transplant. However, after receiving a correct diagnosis he was told a transplant was not necessary.
To highlight the ‘Rare Reality’, Genetic Alliance UK also created a microsite where almost 1500 people shared their #RareReality by adding a star to our website, to help shine a light on the realities of living with a rare condition. If you didn’t get a chance to add your star, don’t worry! The website is still live, so add your star now