Today is Rare Disease Day – an annual international event which provides the rare disease community the opportunity to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.
This year’s theme is research and it is hoped that by raising awareness on this day, the importance of research for the rare disease community will be highlighted.
The slogan for this year’s Rare Disease Day is “with research, possibilities are limitless.”
A disease or disorder is defined as rare in Europe when it affects less than 1 in 2,000 people. Rare Disease UK state that there are between 6,000 and 8,000 known rare diseases, with around five new diseases described in medical literature each week.
Many rare diseases are present at birth and around 80% of these have a genetic component. Rare diseases are often chronic and life threatening.
Sufferers of rare diseases can face difficulties in diagnosis and treatment given that these diseases are by their very definition, rare.
Last month I represented a family at the inquest into the death of their five-day-old son who was suffering from MCADD, a rare genetic condition which is estimated to affect up to 1 in 8,000 babies born in the UK.
Following their son’s birth, his parents noticed that he was sleeping a lot, felt cold and was not very interested in his feeds. His mother was also concerned that he was off-colour. They raised their concerns with various medical professionals but the rare condition was not detected and he sadly died.
Undiagnosed and untreated, this condition can be life threatening and can have a devastating impact on families. Tragic cases such as this truly highlight the importance of raising awareness of rare diseases so that they can be diagnosed and treated rather than going undetected.
In 2013, the UK Strategy for Rare Diseases was published with the aim of ensuring that “no one gets left behind just because they have a rare disease.”
Key themes of the Strategy include:
- Empowering those affected by rare diseases
- Identifying and preventing rare diseases
- Diagnosis and early intervention
- Co-ordination of care
- The role of research
The four countries of the UK have until 2020 to implement the 51 commitments in the Strategy. However, a report published today following an inquiry by the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions has found that the Strategy is not being effectively implemented in England and has recommended that the Department of Health should develop a comprehensive implementation plan to deliver the Strategy in England.
It is hoped that effective implementation of the Strategy will go some way in tackling some of the difficulties that sufferers of rare diseases face.