 Clwyd West AM Darren Millar has expressed his support for a global initiative to raise awareness of rare diseases and improve and coordinate services for people living with rare conditions and their families.
Families, clinicians, researchers and politicians in Wales came together last week to mark Rare Disease Day 2010 with a reception at the National Assembly for Wales.
Rare Disease Day 2010 took place on Sunday the 28th of February and the theme this year was ‘Patients & Researchers: Partners for Life’ and raised awareness of the need for research into rare conditions and development of treatment and support for people living with them.
A rare disease is defined as one that affects about one in 2,000 people. There are more than 6,000 different rare conditions. Rare diseases are surprisingly common - 175,000 people in Wales (3.5 million in the UK) - live with a rare condition at some point in their lives.
Rare diseases are diverse in severity and symptoms presented by patient. People living with these conditions, however, report similar issues around diagnosis and treatment. It can take patients years to achieve a diagnosis, leading to a deterioration of the condition, inappropriate treatment and medication and significant distress for them.
Rare Disease UK is campaigning for a strategy in Wales and across the UK for integrated service delivery for rare diseases to aid speedy diagnosis and effective treatment and care for people living with rare conditions.
Darren Millar, who also Chair’s the Assembly’s Health, Wellbeing and Local Government Committee, said: ‘I’m delighted to support Rare Disease Day 2010 and I want to commend the work of Rare Disease UK in highlighting the needs of those who suffer from rare conditions.
‘It is vital we can provide the best care for people who need it, regardless of where they live and I want to ensure that people living with rare conditions in my constituency and elsewhere get the specific clinical management and support that they need.’
Buddug Williams of Rare Disease UK and from Ruthin, said: ‘There are tens of thousands of people in Wales and millions of people in the UK living with a rare condition. For many, there is little knowledge on how to treat and manage their condition and scientific research is lacking. Raising awareness of rare diseases and the need for a co-ordinated approach for the diagnosis, treatment and research of rare diseases is hugely important.’
Notes:
Photo shows Alastair Kent and Buddug Williams of Rare Disease UK with Darren Millar AM at the Rare Disease Day 2010 Wales event at the National Assembly for Wales.
Rare Disease Facts:
• 75% of rare diseases affect children and 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
• Rare diseases are often chronic, progressive, degenerative, and often life-threatening
• Rare diseases are disabling: the quality of life of patients is often compromised by the lack or loss of autonomy
• Rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis.
• Rare disease patients face common problems:
Lack of access to correct diagnosis
Delay in diagnosis
Lack of quality information on the disease
Lack of scientific knowledge of the disease
Heavy social consequences for patients
Lack of appropriate quality healthcare
Inequities and difficulties in access to treatment and care
1. Rare Disease UK is a joint initiative of the Genetic Interest Group, (the UK alliance of patient organisations with a membership of over 130 charities which support children, families and individuals affected by genetic disorders) and others in response to unmet health care needs of families who currently struggle to get access to integrated care and support from the NHS. Rare Disease UK is calling for a strategy to deal with Rare Diseases across the UK.
2. Rare Disease Day is marked on 28th February. It is an international day to raise awareness of rare conditions www.rarediseaseday.org
3. There are more than 30 million people affected by a rare disease living in the European Union and 3.5 million in the UK and 175,000 in Wales.
To find out more about Rare Disease Day in Wales and about Rare Disease UK go to www.raredisease.org.uk or contact: Buddug Williams, Rare Disease UK, 02920 687 646
3rd March 2010 | 
