On 29th February, we celebrated Rare Disease Day – a day designed to raise awareness of rare diseases, encourage service improvements and ensure that patients’ voices are heard. The theme of the day was appropriately named, ‘Patient Voice’, and the AKU team joined thousands around the world to come together in solidarity and mark the occasion. In this week’s blog, the AKU team talk about how they got involved…

Lesley –

On 23rd March Lesley attended the Welsh Rare Disease day Reception at The Senedd in Cardiff. The event was sponsored by Shadow Minister for Health and Social Services, Darren Millar AM. He opened the event welcoming a variety of delegates which included patients, carers, patient organisations and health professionals as well as Ministers and industry.

Alastair Kent, Chair of Rare Disease UK & Director of Genetic Alliance, talked about a new report by Rare Disease UK, ‘The Rare Reality’, which gives an insight into the patient and family experience of rare disease and how very little has changed over the past five years. Other speakers included Dr Andrea Edwards Clinical Director of the All Wales Medical Genetics Service and our very own Tony Esmond who gave a very powerful presentation about his personal journey to getting a diagnosis of AKU and the difficulties experienced when trying to access services and treatment.
The final presentation was from Ceri Hughes, Director of Same but Different, whose son has the ultra-rare condition Moebius Syndrome. A photography exhibition of Ceri’s ‘Rare Project’ which highlights the people behind rare conditions was on display in The Senedd alongside an exhibition of the Expressions of Hope art work.
This project was set up to give those impacted by lysosomal storage disorders (LSDs) the opportunity to raise awareness of these rare genetic diseases through art. Both these exhibitions will be on display in other parts of the UK over the coming weeks.
At the reception Genetic Alliance launched their ‘Pledge for Patients campaign for Wales’. The campaign involves canvassing prospective Welsh parliamentarians, to give their support and commitment to rare disease patients in being able to access the right care and treatment.
Lesley also attended a Rare Disease Implementation Group Meeting at the All Nations Centre in Cardiff on the 29th February. This event was hosted by the Welsh Government and topics discussed included the implementation group and priorities for 2016/17. There were presentations empowering those affected by rare diseases, identifying and preventing rare diseases, diagnosis and early intervention, care coordination and research.

Eve and Ciarán-

Eve and Ciarán attended a special Rare Disease Day event at Royal Holloway University. The event gave A-level students the opportunity to learn more about rare diseases, the challenges patients face and potential treatment opportunities. They had an AKU exhibition stand and were thrilled to meet so many eager young students, keen to learn more about the symptoms of AKU and understand the underlying genetics. Unsurprisingly, none of the students had heard of AKU before and were particularly shocked by the photo of the black and brittle elbow cartilage. It was a really great event and the impact of AKU clearly had an effect on the young people attending.

Lydia –

On Tuesday 1st March, Lydia met AKU patient, Maureen McClure, and her husband, Brian, in Edinburgh to attend the Scottish Parliamentary Reception on Rare Diseases. The meeting began with a patient testimony from Keith Swankie who suffers from a rare neurological condition called PSP. He explained how he waited over three years before doctors gave him a diagnosis, and even then they argued for another six months over what treatment they could offer him. The CEO of Genetic Alliance, Alistair Kent, then reiterated just how difficult life is for patients without a diagnosis, when they don’t know what their future will hold. This, he said, makes Rare Disease Day such a great day for rare disease patients as it recognises the journey we are on to improve the lives of people with rare conditions.

‘We are on a journey and it has momentum. We don’t know how far we have to go, but we are on the road’ – Alistair Kent, Genetic Alliance

They then heard from Jamie Hepburn, the MP for Health, Sport and Wellbeing, who made an exciting announcement that Scotland will be investing 6 million pounds into a genome sequencing project which could well offer hope for patients without a diagnosis. This project is a collaboration between NHS Scotland and the universities of Edinburgh and Glasgow and will involve the sequencing of around 1000 patients. It should enable geneticists to screen for over 2000 different diseases. The meeting closed with a feeling that this could be a major step forward for rare disease patients.

Oliver and Ciáran-

On the 2nd of March Oliver and Ciarán attended the Rare Disease Day Parliamentary Reception held at Westminster. The event, hosted by Liz Kendall MP, was attended by almost 150 people from different rare disease charities, and by  MPs and Peers.
The event started with a rousing speech from the Minister for Life Sciences, George Freeman MP. He explained the work he and the Department of Health do in championing rare diseases and implementing the UK Strategy for Rare Diseases – a 51 commitment strategy that all UK countries have signed which will improve the lives of patients with rare diseases by 2020.

In keeping with this year’s Rare Disease Day theme, Dr Gina Radford gave an emotional speech that explained how the patient voice has affected her in her career and what led her to become a Rare Disease Champion.
The receptions host Liz Kendall then took the stand and emphasised how important and vital the patient voice is to the battle against rare disease. Imploring all those involved in the fight, from patients and carers to Policy makers, to ‘put their feet to the fire’ and continue the hard work even though it isn’t always easy.
After a networking break, were Oliver and Ciarán had very interesting conversations with representatives from many different charities, Rare Disease UK Chairman, Alistair Kent, presented long time rare disease advocate Lord Walton with a lifetime achievement award. Lord Walton has stood shoulder to shoulder with the rare disease community, patient organisations and rare disease charities. He said that he was deeply honoured to be found worthy of such an award.
Fiona Marley of NHS England then talked about the progress the English NHS has made and stating that they want to improve diagnosis to improve prognosis.
The last speaker of the day was Ben Howlett MP, newly elected as Chairman of the All-Party Parliamentary group for rare, genetic and undiagnosed patients. He underlined his hopes that the APPG can champion the issues of the rare disease community. He also urged all those present to contact their local MPs and ask them to join the APPG so they can add their voice.
The event was very inspiring and was an amazing opportunity to talk to other rare disease patients and patient groups, as well as hearing from policy makers on how they are making a difference.