Chaitali Joshi
Chhatrapati Sambhajinagar:
Ahead of World Rare Disease Day on February 28, doctors in Marathwada have reported a steady rise in rare disease cases, particularly among children. Specialists say the increase is linked to improved diagnostic facilities, better awareness and a higher prevalence of genetic disorders due to consanguineous marriages.
Cases on the rise in children
Nearly 80 per cent of rare diseases are diagnosed in childhood, as most are genetic and present early in life. With better screening and reporting, more cases are now being identified.
“As diseases are being notified, they are coming to our notice more frequently. Facilities have also improved. Many genetic diseases are known as rare and are seen in young children, which later present in adulthood as well,” said hod and professor, paediatrics department, GMCH, Dr Prabha Khaire.
Improved diagnosis revealing hidden burden
Doctors say the apparent surge also reflects stronger diagnostic capabilities. With next-generation sequencing technologies, identifying genetic mutations has become easier. MGM’s genetic disorders OPD clinic now sees 150–200 patients every month, indicating the growing burden in the region.
Costly treatment, limited access
Despite better diagnosis, treatment remains expensive, ranging from Rs 30 lakh to Rs 1 crore annually, with many patients dependent on lifelong imported medicines. However, the National Policy for Rare Diseases provides financial assistance of up to Rs 50 lakh per patient per year. In Maharashtra, KEM Hospital is a designated centre of excellence under the policy.
Changing population trends
Doctors point out that marriages among close relatives increase the risk of autosomal recessive disorders, contributing to higher numbers. With infectious diseases declining and genetic testing becoming accessible, rare disorders are now being diagnosed more frequently in Marathwada.
Early diagnosis and collective advocacy key to tackling rare diseases
“Early suspicion, timely diagnosis and prompt referral to the appropriate centre are crucial in managing rare diseases. With advanced genetic testing now available, diagnosis has become easier, enabling targeted therapy and informed decisions about future pregnancies, as many conditions have a recurrence risk of 50–55 per cent. The government policy came into place largely because of sustained efforts by parents who refused to remain unheard. Greater visibility and collective advocacy can encourage the government to invest more in research, treatment and diagnostic facilities.”
— Dr Suvarna Ghansham Magar, in-charge, genetic clinic (paediatrics)
Understanding genetic and infectious rare diseases
“Rare diseases may be genetic or infectious in nature. Certain infectious conditions, such as Nipah virus infection, are considered rare but are treatable if diagnosed early. Many genetic disorders follow an autosomal recessive pattern of inheritance. Therefore, early diagnosis and appropriate treatment remain the most effective approach in managing rare diseases.”
— Dr M. A. Majid, consultant paediatrician
(photo)