Rare diseases are, unfortunately, all around us. If anything, they put the sufferers in a worse condition due to lack of cure or the lack of effective, available treatments.
If someone is suffering from a rare disease, the family of the patient is undoubtedly affected and the experience for both the patient and the family can be traumatic.
In Europe, a disease or disorder is defined as rare when it affects fewer than 1 in 2000. Whereas, a disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.
In order to raise awareness about rare diseases and their impact on patients and their families’ lives, Rare Disease Day is observed on the last day of February each year.
The theme for this year’s Rare Disease Day is ‘research’, that brings hope to the millions of people living with a rare disease across the world and their families.
In India, an estimated 70 million people suffer from such rare ailments.
In sync with this year’s theme, a clinical research body on Monday said that, more research is needed to address the unique needs of rare disease patients in the country.
“We need more research in India to address the unique needs of rare disease patients. The challenges pertaining to the diagnosis and treatment of rare diseases are manifold. Lack of awareness and scientific knowledge often leads to misdiagnosis or late diagnosis and delayed treatment.
“There are still no known cures for majority of rare diseases and treatments costs are extremely high, more so in India. Clinical research will help us find better and more effective treatment for rare disease,” said Suneela Thatte, President Indian Society for Clinical Research (ISCR).
On the eve of Rare Disease Day, ISCR said out of the 7,000 known rare diseases, treatment is available for only around 500 of them, adding that there are an estimated 70 million rare disease patients in India and 350 million worldwide.
“Rare disease patient communities need to come together on a common platform. We need to create more awareness about rare diseases and impress upon the government the need to focus on an Orphan Drug Policy for rare diseases,” said Prasanna Shirol, Co-Founder, Organisation for Rare Diseases India (ORDI) and father of a patient with Pompe Disease.
ISCR said out of the 7,000 known rare diseases today, most of them are “progressive, life-threatening, and chronically” debilitating conditions.
It said 80 per cent of the rare diseases have a genetic origin while 50 per cent affect children, most of whom do not live beyond five years.
There are many unidentified rare diseases with more and more being discovered each year, which makes it difficult to know the exact number of patients world over, the body said.
ISCR said research can lead to the identification of previously unknown diseases, can increase understanding of diseases, enable doctors to give a correct diagnosis, lead to the development of new innovative treatments and even reduce costs for healthcare systems and improve the quality of life of patients and their families.