Archive · 11 Dec 2025
Indian Mother Advocates for Rare Norrie Disease Awareness
Meenu Hodiwalla's son, Ruzbeh, was born with Norrie Disease, a very rare genetic condition that causes blindness, hearing loss, and other challenges.
At first, doctors didn't notice anything wrong, but Meenu knew something was different because her baby didn't look at her or respond to sounds.
After many tests, they found out Ruzbeh had Norrie Disease, which is very hard to diagnose because it's so rare.
There's no cure, but Meenu started a support group to help other families and raise awareness.
She also hopes that new research on gene therapy will one day help her son and others with this condition.
Meenu Hodiwalla's son, Ruzbeh, was diagnosed with Norrie Disease, an ultra-rare genetic disorder causing congenital blindness and other health issues.
Early signs were subtle and often missed, leading to delayed diagnosis and misdiagnosis.
Norrie Disease is caused by mutations in the NDP gene, affecting retinal development and leading to progressive hearing loss and neurodevelopmental challenges.
Meenu founded an international support group to raise awareness and fundraise for treatments, emphasizing the need for better healthcare and research in India.
Emerging gene therapy research offers hope for future treatment, though human trials are still years away.
- Who
- Meenu Hodiwalla and her son Ruzbeh, who has Norrie Disease
- What
- A rare genetic disorder causing congenital blindness, hearing loss, and developmental challenges
- When
- Ruzbeh was diagnosed almost three decades ago
- Where
- India and the UK
- Why
- Due to mutations in the NDP gene, leading to abnormal retinal development and other health issues
- Disease
- Norrie Disease
- Cause
- Mutations in the NDP gene
- Symptoms
- Congenital blindness, progressive hearing loss, developmental challenges, autism spectrum features
- Diagnosis
- Delayed due to subtle early signs and lack of awareness
- Treatment
- No cure, but gene therapy research ongoing
- Awareness in India
- Almost non-existent
- Support Group
- International Norrie Disease support group founded by Meenu Hodiwalla