The rare disease day is observed on the last day of February every year to raise awareness about the thousands of diseases which are not known to most people.
It is primarily aimed at raising awareness among general public, policy makers and research professionals about these diseases.
These are also known as orphan diseases.
What is a rare disease:
- The definition of a rare disease varies from one country to another. In Europe, a disease is considered rare when it affects 1 in 2000 people, whereas in US a disease is considered rare when it affects more than two lakh Americans
- But a common aspect associated with it is that a rare disease affects only a small section of the population. This essentially means that not much is known about the disease.
- Rare diseases comprise a wide range of disorders and diverse symptoms
- These include lymphocytic leukemia, cystic fibrosis (in which obstruction of the lungs by mucus takes place), Duchenne muscular dystrophy (a case of degeneration of muscles), microcephaly (an abnormally small head) and Tourette’s syndrome (a neurological disorder) to name a few
- 80 percent of these diseases may be caused due to genetic factors
Challenges that arise:
- As the disease affects only a section of the population, limited research is carried out to find treatment for these diseases
- Lack of adequate research leads to incomplete knowledge about the cause and symptoms of these diseases
- This leads to delay in diagnosis and even misdiagnosis in certain cases as the symptoms are similar with that of other diseases in many cases
- Appropriate care and support for patients suffering from these diseases do not exist
Research efforts for finding treatments and timely diagnosis for these rare diseases should be coordinated across the world.
Researchers across the globe should share patient data to ensure that patients across the globe benefit from the pooling of resources across the border. This assumes significance due to the nature of these diseases.
Rare disease patient communities should be formed to spread awareness about these diseases.
Coordinated research will enhance understanding about these diseases, can lead to development of new innovative treatments and improve life of patients and their families.