Rare diseases research 'lacking'

James Humphreys' family have fought to find out more about his condition

A campaign aims to improve treatment for thousands of people in Wales suffering from rare conditions.

Rare Disease UK is calling for quicker diagnosis, improved research and better care as part of a worldwide campaign.

A reception will be held at the Welsh assembly later, attended by families, clinicians and researchers.

Organisers said that "rare diseases are surprisingly common" with 175,000 people in Wales - and 3.5m in the UK - having one at some point.

Rare Disease UK said people living with rare conditions in the UK reported similar issues around diagnosis and treatment.

The group said it could take patients years to get a diagnosis, leading to a deterioration of the condition, inappropriate treatment and medication, and significant distress.

Alastair Kent, chair of Rare Disease UK, said: "There are tens of thousands of people in Wales and millions of people in the UK living with rare conditions.

RARE DISEASE FACTS 75% of rare diseases affect children 30% of rare disease patients will die before their fifth birthday 1 in 17 people will develop a rare condition at some point in their life 80% of rare diseases have identified genetic origins Rare diseases are often chronic, progressive, degenerative, and often life-threatening Source: Rare Disease UK

"For many, the information available on their conditions is scarce and scientific research is lacking.

"Raising awareness of rare diseases and the need for a co-ordinated strategy for the diagnosis, treatment and research of rare diseases is hugely important."

Rare Disease Day 2010, on 28 February, aims to draw attention around the world to the issue.

There are more than 6,000 different rare conditions including spinal muscular atrophy, all childhood cancers and Huntington's Disease, a neurological condition.

A less well known condition is Laurence-Moon-Bardet-Biedl Syndrome (LMBBS), a genetic disorder which affects James Humphreys, 28, from Newport.

His mother Chris and his family have fought for many years to get an accurate diagnosis and have worked alongside researchers to find out more about the condition.

Two new specialist clinics for LMBBS are being set up in London and Birmingham but there has been concern that patients from Wales are unable to access them.

Chris Humphreys said: "We want James to be able to attend this clinic once a year so he can be managed by experts who understand the condition.

"For so long we have had no specialist input for James.

'Significant funding'

"Now it is available we want to make sure that he and others like him, whatever their rare condition, are allowed and able to access such clinics and benefit from them."

The assembly government said money was available to enable patients in Wales who require treatment to access the services in Birmingham and London.

A spokesperson said: "The Welsh Assembly Government provides funding and support for specialised services for rare diseases such as Laurence-Moon-Bardet-Biedl Syndrome.

"Our annual plan for specialised services in Wales includes provisions for Welsh patients suffering from LMBBS and significant funding for these patients has already been allocated in our budget.

"This money is available to enable patients who require treatment at the LMBBS diagnostic and management services in Birmingham and London to access these services."

The assembly government said patients concerned about accessing these services should contact Health Commission Wales.

The assembly reception on Wednesday is hosted by Helen Mary Jones, Plaid Cymru's spokesperson for health and social services.