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 progressively 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 child specialist and Institute of Child Health director Apurba Ghosh.

Enzyme replacement therapy is now available for the syndrome. But the vials are too expensive for any individual to afford the treatment that costs around Rs 2 lakh a week. Arian’s father Sib Sankar Chowdhury, who has a modest job in a private firm, 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.

"It feels so 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 wondered aloud. Though they can conceive another child and get a pre-natal test done to ensure it does not suffer from the disease, neither parent is willing to think beyond Arian.

Arian, their only child, was born on 24 February 2002. It was when he turned two that a local homeopathic doctor heard a wheezing sound from the heart and suspected a cyst. A visit to the local cardiologist and an eco-cardiography revealed that one of the four valves in the heart was thicker than the rest.

The couple then took their child to a specialist in Rabindranath Tagore International Institute of Cardiac Sciences, where a third visit to paediatric surgeon Biswajit Bandyopdhyay revealed the problem was not in the heart but elsewhere and he referred the case to Ghosh.

As soon as Ghosh saw Arian he knew he again had the dreaded syndrome case in his hands. He immediately referred the case to Christian Medical College in Vellore. There, a 24-hour urine test confirmed the syndrome. But to know the missing enzyme, the Chowdhurys had to take their child to Sir Gangaram Hospital in Delhi, where a test found that iduramate-2-sulphatate was the missing enzyme.

The news that a treatment is available brought joy but was short–lived when they learnt how prohibitive the cost was. "There are two types 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; the 10–year–old with his parents. One in 2,00,000 suffers from the disease