Parents of boy with rare disease pleads for help (Feb 28 is World Rare Disease Day)
Eight years after Arian Chowdhury was first diagnosed with Hunter Syndrome, a rare genetic disease that affects one in 150,000 worldwide, necessary medical aid still eludes the 12-year-old. With the clock ticking, his distraught parents can only hope help arrives in time.
His parents fervently wish the union and West Bengal governments would take steps to ensure something is done for their only child, for each day that Arian goes without injections of a crucial enzyme, his chance of living a little longer also fades.
There is no cure for the disorder. Besides palliative care, enzyme replacement therapy (ERT) through intravenous injections of the deficient enzyme - implicated in Hunter syndrome - is the only form of treatment for this disease.
"An American company manufactures the enzyme...it is not available in India. Arian's disease is progressive but is less severe. His mental growth is fine, although his physical growth has stopped. If he is not treated immediately his condition will decline further and eventually the damage will be irreversible," Arian's father Sib Sankar Chowdhury, employed in a private firm, told IANS.
"The treatment costs Rs.2 crore (Rs.20 million/$323,000) per year in the US. It might be over Rs.1 crore per year in India if the injections are introduced here. If the health ministry could take some steps to make the treatment available at a subsidised cost here, Arian can see his next birthday," said the Howrah-based Chowdhury.
Death usually occurs in the second decade of life, although some patients with a less severe disease have survived into their fifth or sixth decade. Arian completed 12 on Feb 24.
Medically known as Mucopolysaccharidosis type II (MPS II), Hunter Syndrome affects primarily males and constitutes one of the several related lysosomal storage diseases (LSDs).
The symptoms include severe airway obstruction, skeletal deformities, cardiomyopathy and, in most patients, neurological decline.
It is caused by the deficiency of an enzyme (Iduronate-2-sulphatase) present in lysosomes, which are cellular components carrying enzymes that break down different biomolecules. The enzyme marked in Hunter Syndrome is involved in cleaving of complex carbohydrates called mucopolysaccharides.
Without sufficient levels of the enzyme, the partially broken down carbohydrates accumulate in organs and tissues and become toxic.
Arian's parents are part of the Lysosomal Storage Disorders Support Society (LSDSS) headquartered in New Delhi and by March Chowdhury will submit a petition to Health Minister Ghulam Nabi Azad.
He has tried to seek a meeting with West Bengal Chief Minister Mamata Banerjee to sponsor the treatment.
"She has been doing good for the people and we believe she can do something for us," Chowdhury said.
For the other children battling rare diseases in the country, Chowdhury envisages the inclusion of rare diseases in the country's health policy.
"Since one of the results of these diseases is disability, these patients should also be mentioned in the Disabilities Act," said the father, adding Arian can't bend his fingers.
"He can read and write, however. He is in Class 6 and should be given a chance to live for a few more years. We can't look beyond Arian...if he's gone...we will be lifeless."
(Sahana Ghosh can be contacted at firstname.lastname@example.org)
(Posted on 27-02-2014)