Rare Hunter syndrome haunts 10-yr-old Kolkata boy

Parents Can't Afford 2 Lakh Treatment Every Week Kolkata: Afflicted with a rare disease that requires a fortune to treat, the parents of a 10-year-old boy in Shibpur, Howrah, are groping in the dark even as their son gradually slips into an abyss.      Arian Chowdhury is suffering from the Hunter syndrome, a genetic disease caused by mutation that leads to deposition of biomolecules in cells. As cells get clogged, organs begin to fail, causing death. One in 2,00,000 suffers from the disease. Except in developed nations, most patients die young with parents unable to afford the lifelong treatment of Rs 1 crore a year. In severe cases, children survive till 11-12 years. Arian's case is less severe. Doctors say he may live till 17-18.      "His bones have become stiff and he is unable to bend his fingers or toes. There is facial deformity and his liver has enlarged. But his brain is still fine. The only way to arrest his condition is by injecting a critical enzyme that is deficient in his body," said Institute of Child Health director Dr Apurba Ghosh.      Enzyme replacement therapy is now available for the syndrome. But the vials are expensive for any individual to afford and the treatment costs around Rs 2 lakh a week. Arian's father Sib Sankar Chowdhury, who has a modest job, has written to all, including drug manufacturer Shire US Manufacturing Inc and to the state government. But there has been no response from any quarter.      "I feels helpless to see Arian's condition deteriorate, more so knowing there is a treatment available. The cost is so enormous that we can't expect it to be met by individual benevolence. Only the government can urge the drug firm to be more generous," said Chowdhury.      While he has become stoic after learning about their son's disease in 2006, his wife Debjani is unable to come to terms with their son's short life and prolonged death. "How can we give up on our boy?" she said. Though they can conceive another child, neither parent is willing to think beyond Arian, who was born on 24 February, 2002. It was when he turned two that a homeopathic doctor heard a wheezing sound from his heart. A visit to the cardiologist and an eco-cardiography revealed one of the four heart valves was thicker than the rest.      The couple took their child to a specialist. It was at the third visit to paediatric surgeon Biswajit Bandyopadhyay when it was revealed that the problem was not in the heart. Arain was referred to Ghosh. When Ghosh saw Arian, he knew he again had the dreaded syndrome case in his hands. He referred him to Christian Medical College, Vellore. A urine test confirmed the syndrome. But to know the missing enzyme, the Chowdhurys had to go to Delhi's Sir Gangaram Hospital, where a test found iduramate-2-sulphatate was missing.      The news that a treatment is available brought joy but was short-lived when the Chowdhurys learnt about prohibitive the cost. "There are two of views about rare diseases: one is that patients should be treated as individuals and not commodities; the other is that given the multiple problems in India, the state cannot spare scarce resources on individuals. It is difficult to buy the latter when thousands of crores of rupees are lost in corruption. Arian does deserve a future and our political leaders owe it to them," said Ghosh. (Left) A photo of Arian before being detected with Hunter syndrome. (Right) A recent photo of the 10-year-old with his parents. One in 2,00,000 suffers from the genetic disorder that leads to biomolecular deposits in cells that choke organs leading to death