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.
"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.
You may also like
Rio Ferdinand at odds with Gary Neville and Jamie Carragher on Thomas Tuchel appointment
South African Police detain suspects for mass shooting
Bayern Munich chief takes brutal dig at 'catastrophic' new England boss Thomas Tuchel
Liam Payne's haunting final post just weeks before One Direction star's tragic death at 31
The Repair Shop fans emotiobnal after Chris Shaw restores special war book that saved man's life
Angela Rayner among Labour ministers furious as 'biggest tax raid in history' mooted
Canada intel boss flagged 'Pak role' in 'extremism'
Inside life of NCIS LA's Linda Hunt from bullying and car crash to decades-long romance
Luke Littler 'signs major TV deal' as darts star set to join Freddie Flintoff on screen
Tennis news: Carlos Alcaraz pairs up with Roger Federer as Rafa Nadal eyes new job
Had no proof, only intel when we first accused India: Justin Trudeau
Nikita Mazepin speaks out on potential F1 return after driver's sanctions were removed
Who Was Sean O'Neil? Ex-NYPD Detective Kills Himself After Fatally Shooting Wife
Instagram Down? Users Report Getting Logged Out, 'Error' Message While Logging In
ROYAL FAMILY RECAP: Prince Harry and Meghan's triple 'snub' shows 'tide is turning'
Erik ten Hag has huge injury list as Manchester United problems continue to mount
Raphael Varane played final 11 years of career 'on one knee' - including at Man Utd
Alia Bhatt Lauds Kriti Sanon, Kajol Starrer Do Patti Trailer, Don't Miss TBMAUJ Actress' Reaction
Fire At Recycling Facility Near Rogers Airport Prompts Warning, Videos Surface Of Massive Smoke | WATCH
Railways told to pay Rs 4.7 lakh to passenger for bag theft