PCD Support Group attend Rare Disease Event in Wales

Lucy Dixon joined other rare disease patients, their families, health experts and politicians for a second year running at the Welsh Assembly, to celebrate Rare Disease Day 2016. This day is held around the 29 February each year (note the rare date!) and brings together those working for and affected by rare diseases.

There was a fantastic line up this year, which included speakers such as Alastair Kent OBE, chair of Rare Disease UK, and Darren Millar AM, shadow Health Minister, who opened the event, as well as patient speakers.

Daren Millar spoke about the Welsh Implementation Plan for rare diseases, which is part of a UK-wide strategy that runs until 2020, and aims to improve diagnosis, coordination, treatment and outcomes for those with rare diseases.

Alastair Kent, OBE, reflected on the challenges of the Rare Diseases Strategy, offering some valuable insights into patient experience, which can be found in the recently published report ‘The Rare Reality’. Alastair noted that patient experience of issues surrounding rare diseases remains variable, particularly around the issue of diagnosis. On average, a patient with a rare disease consults 5 doctors, has 3 misdiagnoses and waits 4 years before being correctly diagnosed. Adding to this complex and problematic picture, even when a diagnosis is reached, patients with rare diseases see at least 3 clinics, at least quarterly, with an average travel time of 1-2 hours in order to attend appointments related to that condition. Alastair urged those in politics to put agendas aside in order to address the impact that fragmented medical care for patients with rare conditions have on their lifestyle: both personally and professionally. This was a very pertinent point, which really resonated with me, and which I’m sure other PCD patients will identify with.

To conclude his presentation, Alastair spoke about a campaign that Rare Disease UK will be running, which calls to politicians to support their work. It’s called ‘Pledge for Patients’ and asks those working in Government to:

  1. Promote the Rare Diseases Strategy
  2. Press for better diagnostic opportunities
  3. Work to ensure that innovation is not prevented from reaching patients.

The U.K. Forum for Rare Diseases will publish a report on Monday, reviewing progress at 2 years into this strategy, and which is said to indicate the beginnings of change in patient experience and outcomes of rare diseases.

The event concluded with an interesting talk by Tony Esmond, who is a patient affected by Alkaptonuria, and a presentation by Ceri Hughes, who is the mother of a 8 year old with Moebius Syndrome and director of ‘Same but Different CIC’, which uses arts to raise awareness of disability and to counteract prejudice.

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