Caption (left to right): David McPherson, Janet McPherson and Joyce Watson AM at the National Assembly for Wales.Rare Disease Day (28th February) is part of a world-wide initiative to raise awareness of rare diseases and improve services for people living with rare conditions.
David McPherson, who is a member of the Primary Immunodeficiency Association, said:
“It is great that people with rare conditions come together to raise awareness of what we need to help manage our conditions. We hope that the Welsh Assembly Government will recognise that together we are a big number of people and it is important to make sure we get the health services we need.”
Joyce Watson AM for Mid & West Wales, said:
“Many people in Wales are living with conditions that require special clinical management and support and it is vital that they receive the best possible care, regardless of where they live.”
A rare disease is 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 have a rare condition at some point in their lives.
Although rare diseases vary widely, people living with these conditions report similar difficulties regarding 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.
Buddug Williams of Rare Disease UK, said: “There are tens of thousands of people in Wales 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.”
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:
- 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
