‘Fo­cus on preven­tion, not just cure of rare dis­eases’

Hindustan Times ST (Mumbai) - - METRO - Aayushi Pratap

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.

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