Noida: The recently opened genetic diseases department at the Post Graduate Institute of Child Health , Noida, is now treating a three-year-old child with Hutchinson Gilford Progeria , a rare condition that involves the patient growing old and dying within 10-15 years of age. Recently, the department has been treating 10-12 patients at low costs every day and turning out to be the new hope for parents unable to bear costly, complex treatments for children with genetic disorders. The department received 58 patients in February, 103 in March and 138 in April.
“The department has been treating patients with rare genetic disorders . These include dysmorphology, inborn metabolism defects, neurogenetic disorders, osteogenesis imperfecta, and skeletal dysplasia. We also started clinics for adults suffering from genetic diseases, open every Friday,” Dr Mayank Nilay, assistant professor of medical genetics at PGICH, said.
The department has made some headway in the case of the child with Hutchinson Gilford Progeria, which also causes other skin and heart-related complications. The doctors at the institute said that the child’s parents are from Noida and had been running from one doctor to another without any diagnosis as most general paediatricians could not decide the diagnosis or the course of treatment.
“The family was also not getting any early appointments at AIIMS in Delhi. Then they heard about the newly-created department of medical genetics at PGICH, Noida. During diagnosis, we confirmed that the child is suffering from defects in the LMNA gene, associated with Hutchinson Gilford Progeria,” said Dr Mayank.
The doctors contacted Dr Leslie Gordon in the USA, known for her research on the disease, and with the active involvement of the parents, sent blood samples to the USA free of cost and got a genetic test done. The doctors have now applied for medicines, Lonafarnib , to treat the child for free. They said the oral drug leads to the improved health of patients and increases their life span for some years.