‘Focus on prevention, not just cure of rare diseases’
Although there is no cure for most of the rare diseases, some of them can be treated if diagnosed at an early stage. DR SHILPA KULKARNI, consultant pediatric neurologist, Bai Jerbai Wadia Hospital
MUMBAI: Pompe’s, Hirschsprung and Gaucher’s diseases are so rare that most people, except doctors, patients and their relatives have not heard about them.
In India, a disease is considered to be rare if it occurs in less than one out of 10,000 people, but there are around 7000 ‘rare diseases’ and the number of Indians who have such diseases is large. Latest figures available by Organisation for Rare Diseases India (ORDI) suggest that one out of 20 people in the country suffer from a rare disease. According to Sangeeta Barde, co-founder, ORDI, 72.6 million people in India have a rare disease, seven million of whom are in Maharashtra.
Doctors said many of these cases can be treated if it is diagnosed at an early stage. Dr Shilpa Kulkarni, consultant pediatric neurologist, Bai Jerbai Wadia Hospital, Parel, said close to 90% of these diseases are linked to genetic abnormalities. “Most of these diseases are manifested in children. Parents often tend to miss the initial signs leading to late diagnosis,” said Dr Kulkarni.
Doctors observe February 29 as International Rare Disease Day to raise awareness about the diseases and improve public access to treatment.
“Although there is no cure for most of rare diseases, some of them can be treated if diagnosed at an early stage. Mainstream films like R Balki’s movie Paa which was based on rare disease called Progeria have definitely shed some light on this group of diseases,” added Kulkarni.
Doctors are encouraging parents who carry an abnormal gene, to get genetic tests to make more informed decisions about their pregnancy.
“We are now shifting the focus from treatment to prevention. A lot of these rare diseases have no treatment modalities. Even if there are treatments available, the cost is close to Rs 30 lakh per month,” said Dr Sumitra Venkatash, consultant pediatric cardiologist, Bai Jerbai Wadia Hospital, Parel.
Dr Prochi Madon, consultant geneticist, Jaslok Hospital, parents whose first child has been diagnosed with a rare disease should avail genetic counselling before planning their her pregnancy.
“There is poor awareness of rare diseases in India. We now have specialised genetic tests that can identify abnormal genetic mutations which can help parents make informed decisions before planning a pregnancy,” said Dr Madon.