Thirty-year-old Kavita Sangle, a Maharashtra Police constable, was a jubilant lady on Saturday. Reason: The state government has sanctioned the expenses for her two-and-half year-old son Atharva’s treatment for the second year. Atharva suffers from a rare ailment – Gaucher’s (pronounced as go-shay), treatment of which costs close to Rs30 lakh a year.
“Atharva is set to receive treatment from October onwards. The police have conveyed this to the doctors and we will get the sanction letter soon to be able to procure next year’s medicines,” said Kavita.
dna had first published the story on October 9, 2012 highlighting the plight of Atharva’s parents and their appeals to the state to fund their child’s treatment.
While Atharva’s case is an exception where the employer of the parent is funding his treatment, doctors say that parents of hundreds of children in India who are suffering from Gaucher cannot afford costly intravenous enzyme replacement therapy (ERT) medicines.
“There are close to four hundred children in India suffering from Gaucher’s disease of which hundred odd children are not receiving medication at the moment. ERT treatment is carried out at five centres – Mumbai, Delhi, Lucknow, Chennai and Bangalore and is sponsored by a drug manufacturer, Genzyme, for enlisted children,” said Dr Aabha Nagral, consultant hepatologist at Fortis Hospital in Mulund who is treating Atharva.
Doctors revealed that in the past few weeks itself, three children had fallen prey to Gaucher’s disease.
Every year in September, the Lysosomal Storage Disorders Support Society (LSDSS) marks the Gaucher’s disease awareness month, under the aegis of which a letter of appeal to the Prime Minister and Union health minister is submitted urging them to create a corpus fund to support the medication of children suffering from rare genetic disorders including gaucher’s disease.
Gaucher disease is a genetic metabolic disorder caused due to deficiency of an enzyme called Glucocerebrosidase which breaks down lipids or basic fatty components in the body for releasing energy. Of three types of Gaucher’s disease treatment for only Type I is available