The family of Arian, a 12-year-old boy from West Bengal, met union Health Minister Harsh Vardhan seeking subsidy for the treatment of Hunter Syndrome, a rare but fatal genetic disorder, the treatment of which is very expensive and not easily available in India.
The minister has promised all help to the family, but experts say that 180 children in India suffer from this disorder and the government, apart from creating awareness about the disorder, should also give subsidy for its treatment.
"Hunter Syndrome is an X link genetic disorder. These are carried by females (mothers) and as males have both X and Y chromosome, they are affected with it. Females acquiring it will be a very exceptional case," Sisir Paul, head of the department of the Institute of Paediatrics at Max Super Speciality Hospital, told IANS.
Hunter Syndrome occurs when an enzyme the body needs is either missing or doesn't work properly. As the body doesn't have enough of the enzyme to break down certain complex molecules, the molecules build up in harmful amounts in certain cells and tissues.
A child suffering from the disorder suffers from permanent, progressive damage affecting appearance, mental development, organ function and physical abilities.
The syndrome appears in children as young as 18 months. It nearly always occurs in males.
"The disease varies in severity and manifestation. The disease prevalence is 3.5 to 4.5 per hundred thousand births," Paul said.
He said as the disease is rare, diagnosis is not easily done.
The Lysosomal Storage Disorders Support Society (LSDSS), a non-profit organisation working for several lysosomal disorders, said there are about 180 children with Hunter Syndrome registered in India.
"Though it is rare, the medicine for the disorder is only available in the US and Europe and is thus very expensive. The government should do something to provide a little subsidy," LSDSS president Manjit Singh told IANS.
The treatment costs anywhere around Rs.60 lakh to Rs.1.5 crore per year.
"This cost for the treatment increases with the weight and height of the child. As the child becomes 14 to 15 kg, the cost gets doubled," Singh added.
He also said the government should also create awareness about the disorder as many people are still clueless about the problem and its treatment.
According to Krishnan Chugh, head of the Paediatrics and Paedritic Intensive Care Unit at Fortis Memorial Research Institute: "When the child is born, they look very normal. It becomes pertinent when the kids turn two to three years old."
"In case the disorder is severe, the child will not be able to live more than 10 years," Chugh told IANS.
"The lack of enzymes damages the bone and brain of the affected child. As their age progresses, their bones become weaker," he added.
Jasjit Singh Bhasin, senior consultant and head of paediatrics at B.L. Kapoor Super Speciality, further said the child affected with Hunter Syndrome also has hazy corneas.
There are normally two kinds of treatment available for the disease -- bone marrow transplant and Enzyme Replacement Therapy.
"There is an enzyme called 'idursulfase' which has been manufactured and it is injected in the person. It is an artificial enzyme that is put in... so it is very experimental," said Paul.
The other treatment, which is bone marrow transplant, is also not easy and involves risks.
"This transplant has a failure percentage of 20 to 30 percent; so when the IQ level of child has gone bad there is no point of taking a risk further," Chugh added.
(Shradha Chettri can be contacted at shradha.c@ians.in)
