CJI Chandrachud reveals daughters' struggle with Nemaline Myopathy; What you need to know about this rare condition

economictimes.indiatimes.com:

rare genetic condition called nemaline myopathy, which affects his foster daughters. Speaking at the 9th Annual National Consultation on 'Protecting the Rights of Children Living with Disability and Intersectionality of Disabilities,' Chandrachud shed light on the emotional and practical difficulties families endure when dealing with this condition, as per a report from TOI.

«Our children have been born with a condition called nemaline myopathy. There is a lack of knowledge about myopathy among doctors, caregivers, and parents. Many families live in self-denial, believing nothing is wrong, and testing facilities for this condition were scarce even in major institutes in India,» he shared during the event.

Understanding Nemaline Myopathy

Nemaline myopathy, also known as rod myopathy, is a rare congenital disorder that weakens the skeletal muscles. According to TOI, this condition is hereditary, stemming from genetic mutations that impact muscle proteins. It is found in approximately 1 in every 50,000 births. The disease leads to symptoms such as muscle weakness in the face, neck, and trunk, along with difficulties in feeding, breathing, and sometimes deformities.

Diagnostic Challenges and Painful Testing

Justice Chandrachud recounted the painful and invasive diagnostic procedures his daughters had to endure. «We were informed that the diagnostic test is invasive and painful, requiring a tissue sample from the child without anaesthesia. The pain my older daughter went through during the procedure was so intense that