Chief Justice of India DY Chandrachud recently discussed nemaline myopathy, a genetic condition affecting his foster daughters. Speaking at the 9th Annual National Consultation on ‘Protecting the Rights of Children Living with Disability and Intersectionality of Disabilities,’ Justice Chandrachud highlighted the challenges faced by families dealing with the disorder.
“Our children have been born with a condition called nemaline myopathy.There is absence of knowledge about myopathy among doctors, caregivers, and certainly, on the part of the parents. Everyone lives with a feeling of self-denial. The families where the children are born feel nothing is wrong with them. There were no testing facilities even in major institutes in India,” he said.
What is Nemaline myopathy?
Nemaline myopathy, or rod myopathy, is a rare congenital disease affecting skeletal muscles, causing muscle weakness. The condition is hereditary and caused by genetic mutations affecting muscle proteins. It affects around 1 in 50,000 births, leading to various symptoms like facial, neck, and trunk muscle weakness, feeding and breathing difficulties, and other deformities.
Justice Chandrachud recounted his experience with the invasive and painful diagnostic tests available in India: “We were told that the diagnostic test is so invasive and painful that they would remove a part of the tissue from the child without anesthesia. It’s so terribly painful. I still remember the time the test was done for both children. After the older child underwent the test, all that she could say in that sense of pain, suffering from the test – ‘don’t allow my sister to go through the test’.”
Diagnosis involves physical exams, genetic testing, and muscle biopsies. While there is no cure, treatments can help manage symptoms. Doctors recommended treatments such as physical and occupational therapy, respiratory support, surgery for joint issues, feeding support, speech therapy, and the use of assistive devices. There’s a need for better awareness, testing facilities, and support systems for those affected by nemaline myopathy.
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