Brothers with rare genetic disease await ESI funds
Dharmendra Singh, 21, and his 4-year-old brother are both suffering from Hurler's Syndrome. Jaya Shroff Bhalla reports.delhi Updated: Sep 10, 2012 00:20 IST
Dharmendra Singh, 21, and his 4-year-old brother are both suffering from Hurler's Syndrome.
It's been a year of sending futile petitions to the Employees State Insurance Company (ESIC) but they haven't released funds for the Nangloi residents' treatment.
This, despite their charter, that clearly states that anyone insured with the company, regardless of the ailment, is assured of treatment for life.
"Hurler's Syndrome is a metabolic disorder, which occurs because of a genetic defect. Persons with this defect do not make the enzyme, lysosomal alpha-L-iduronidase, which helps break down long chains of sugar molecules. These molecules are found throughout the human body, often in the mucus and in the fluid around the joints," said
Dr Ratna Puri, senior consultant, centre of genetics at Sir Gangaram Hospital.
"Without the enzyme, the sugar molecules build up and cause damage to the organs, including the heart," she said.
An official letter from Dr Madhulika Kabra, senior paediatrician at the All India Institute of Medical Sciences (AIIMS), has also certified that the two siblings suffer from mucopolysaccharidosis Type I (MPS I), the specific type of Hurler's disease.
Despite this, the ESIC is turning a blind eye to the numerous petitions filed by the patients.
Hurler's syndrome is an inherited disorder. Both the parents pass the disease on to the child.
Every passing day is being more difficult for the brothers. They are facing a trouble with their height. Their fingers are curling inwards, knees are bending backwards and vision is losing its sharpness.
"I am still 21 and little can be done about my height and other ailments. Our fight with the ESIC is more for my brother, Vishal who has his entire life ahead of him," said Singh, the older of the siblings.
"For our treatment, we need enzyme-replacement therapy, which is fixed according to the patient's body weight. For me, the yearly cost of treatment at the moment is almost around R1.28 crore, but for my younger brother it will be one-third the amount, or even lesser," he said.
According to the experts, the ailment can be combated if a child gets enzyme therapy early.
If left untreated, however, children with this disease also develop nervous system problems, and can die young. Sometimes even as early as 10 years.
Despite repeated calls to the offices of ESIC, they remained unavailable for comment. An email sent to the official site about two weeks ago also remains unanswered.