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

Chief Justice of India, DY Chandrachud, recently opened up about the challenges his family faces due to a 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 she pleaded, 'Don't let my sister go through this test.'"

Diagnosis of nemaline myopathy typically involves physical examinations, genetic testing, and muscle biopsies. However, the lack of adequate testing facilities in India made it even harder for families like Chandrachud's to navigate the already challenging situation.

Managing Nemaline Myopathy

While there is no cure for nemaline myopathy, various treatments can help manage its symptoms. Doctors often recommend physical and occupational therapy to strengthen muscles, respiratory support to aid breathing, and surgical interventions for joint issues. Additionally, children may require feeding support, speech therapy, and assistive devices to improve their quality of life.

Raising Awareness and Improving Support
Justice Chandrachud emphasised the need for greater awareness, better testing infrastructure, and robust support systems for families dealing with conditions like nemaline myopathy. His heartfelt account highlights the emotional toll this rare disease takes on both patients and their families, along with the pressing need for more advanced medical resources in India.