Faseel, 20, has a penchant for repairing mobile phones and electrical gadgets and wants to become an engineer. When he was a child, his relatives recalled, Faseel used to spend more than three weeks a month in hospital, as he had a rare deficiency of antibodies that are vital to preventing infections.
He now gets immunoglobulin replacement every four weeks, provided for free by the State government. On Rare Diseases Day on February 28, many like him are thanking a programme launched at the Department of Paediatrics, Government Medical College Hospital, Kozhikode, which made it possible to have collaborative research on such disorders.
According to Geeta Govindaraj, Professor, Department of Paediatrics, the programme involving scientists at the CSIR-Institute of Genomics and Integrative Biology, New Delhi, resulted in the genomic diagnosis of rare disorders in children and led to better awareness among clinicians.
“Next-generation sequencing, which involves the usage of cutting-edge technology to find out the exact genomic basis for the disease, was offered for free to patients through the GuaRDIAN Consortium, a nation-wide research network of clinicians and scientists. The programme was funded by the Science and Engineering Research Board, New Delhi, Council for Scientific and Industrial Research, and the Foundation for Primary Immunodeficiency Diseases,” she said.
Dr. Govindaraj said Faseel’s illness had started when he was just 16 days old. He had developed fever, and his body turned blue. He was diagnosed with a respiratory infection and was taken to hospitals in Mangaluru, where doctors performed multiple procedures to remove the pus that had collected around his lungs and for complications due to bacterial meningitis.
Faseel grew up with his mother’s family after his father abandoned him. The family is still in debt after spending lakhs on treatment. However, Faseel has now cleared the SSLC exams with the help of a scribe and wants to earn some money on his own.
Another case is that of Sanjay, whose mother lost count of his hospital visits for recurrent infections. The family was advised by the doctor to keep him at home and away from contact with outsiders. He had never played with other children and grew rebellious and withdrawn. His mother also rarely left the house, other than for the corner shop when it was absolutely necessary. She would have a thorough bath after that.
He was later diagnosed with Hyper IgM syndrome, a rare inherited disorder. On regular treatment with antimicrobials and intravenous immunoglobulin, he became free of recurrent infections.
“It is important to diagnose the inborn errors of immunity and manage them as early as possible. Newborn screening programme and genetic counselling for affected families, with wider access to cutting-edge technology like next-generation sequencing enabling prenatal diagnosis, are the need of the hour.
Families should be given the opportunity to make informed reproductive choices,” Dr. Govindaraj added.
(Names of patients changed for anonymity)
