15K rare diseases detected in 10 years

 The Centre for Human Genetics (CHG) set up by the State government has witnessed 15,000 cases of rare diseases in the past 10 years, so far in Bengaluru.

Sugirthana K, an eight-year-old girl is one of the few who is afflicted by a rare disease called Rett Syndrome (RTT), a genetic postnatal neurological disorder of the grey matter of the brain.

Her mother, Sangamithirai K, a resident of RT Nagar, said that her daughter was normal when she was born. However, on noticing absence of physical developments when Sugirthana was ten months, her mother took her to hospital for tests.

“Her electroencephalogram (EEG) tests that records electrical activity of the brain were abnormal and she was administered medicines. My daughter started to have bouts of epilepsy. Her condition worsened when she was of five years and we took her to a  neurologist who later confirmed that she had RTT,” her mother said.

She added that had she knew about the disease, it could have been diagnosed earlier the bouts of epilepsy could have been controlled.

Sugirthana is attending special classes from Tamahar School at Malleswaram where she is taught self-care, physical activities, art, music, feeding techniques among others.

According to Organization for Rare Disease India (ORDI), a non-governmental organisation for people affected with rare chromosomal diseases, there are about 7,000 documented rare diseases across the globe. 

Clinical genetics consultant at CHG, Dr Meenakshi Bhatt, said that 80 per cent of rare diseases are genetic and there is no cure for diseases as the research is still going on.

 “Diagnosing early is very important. Educating family and awareness programmes is the need of the hour. RTT affects one in 50,000 children, particularly girls,” she said.

DH Newsletter Privacy Policy Get top news in your inbox daily
Comments (+)