Little did Mohammed Masi Asghar of Yakutpura and his wife know that the second chid they were expecting could become a victim of consanguineous union. Their first child was a healthy two-year-old and no instances of ill-health within the family were known.
The couple were blessed with another boy in 2014, later named Mohammed Murtaza, who until the age of one, developed like any other toddler. “He crawled and progressed like any baby. He started to walk with support and learnt a few words,” said Mr. Asghar, 30, who welds for a living in Baghlingampally.
About a year ago, when the first child reached the schooling milestone, little Murtaza showed symptoms of flu and required hospital admission. A battery of tests revealed abnormalities in the liver and stomach. “We were told he had swelling of liver and stomach. Some tests also revealed renal rickets,” the father added. Renal rickets is a skeletal deformity caused by kidney disease. Now two-and-a-half-years-old, Murtaza is bed-ridden and can barely sit for 10 minutes. His vocabulary is limited to seven words.
Costly treatment
With a monthly income of just Rs. 9,000, Mr. Asghar sought extensive support from his family for diagnosing and treating his son. The family spent around Rs. 2.5 lakh, exhausting its savings. Unable to afford private care, Mr. Asghar sought supportive care at the State-run Niloufer Hospital. Subsequent genetic testing revealed Hunter Syndrome, known in medical parlance as mucopolysaccharidosis.
“We have to nebulise him every day and seek a two-week hospitalisation once a month. Our hope is treatment from a Chennai-based facility that has the medicine,” he said.
Dr. Annie Hasan, who heads genetics and molecular medicine at Kamineni Hospital in Hyderabad, called for pre-natal and pre-marital testing. “Genetic testing and counselling can be included in Arogyasri as the cost cannot be borne. Additionally, in India where nearly half of marriages are arranged, pre-marital testing can be extremely beneficial,” said the doctor, who helped diagnose Murtaza’s condition.
Mujtaba Askari of Helping Hand Foundation, which is helping Murtaza’s family to find financial support for his treatment, is also seeking to help two girls seek treatment for rare genetic conditions. While one is an eight-month infant with an enlarged brain, other is a two-year-old suffering from a condition that causes bleeding from eyes, ears and other organs. Dr. Hasan adds that efforts are on to establish a forum for rare diseases.
