association
The association was created and is being managed by parents of an individual who was born with Norrie disease (ND). They are committing themselves to driving forward research for ND, and they are doing this voluntarily and with a big heart for those affected.
Meenu Hodiwalla
President
Mother of affected person
Meenu has a Bachelor’s degree in Mathematics & Computing from London University, and an MBA in Human Resources from Bombay University. She has worked for several years in the field of software development in India. She gave up her career to take care of her son’s complex needs.
Boorzin Hodiwalla
Treasurer & Secretary
Father of affected person
Boorzin has a Bachelor’s degree in Commerce and an MBA in Marketing from Bombay University. He has worked in an international environment for the past 30 years and currently leads the Financial Services Segment of a global enterprise.
They are helped in their efforts by a team of wonderful, kind-hearted people who are supporting the association voluntarily. Here they are:
Francine Recoura
Sonia & Roberto Dionisio
Alexandra Dionisio
Francesca Brunelli
- to raise funds for medical research to prevent the progression of hearing loss in Norrie disease (ND) patients.
- to raise funds for, and to initiate, medical research to treat the brain related symptoms – such as epileptic seizures and autism – associated with ND.
- to inform and to support affected families.
Research using a mouse model of ND has established that it is possible to halt the progression of hearing loss linked to the disease in the case of young patients. We want to explore the possibility of extending these results to adult patients. For a blind person, their sense of hearing is fundamental to being able to make sense of the world around them. It is inconceivable to us that adult patients of Norrie disease should lose their hearing if there is any hope that science can prevent it from happening.
Another scientific development has raised our hopes that it may be possible to improve brain related symptoms of ND, such as autism and epileptic seizures. This would lift a huge burden from the shoulders of affected individuals and their families and caregivers.
To elaborate on this further:
We know from past research that Norrie disease patients have a “leaky” blood brain barrier (BBB) – a condition where the semi-permeable membrane between the blood and the brain becomes more permeable, thereby allowing blood-borne neurotoxic molecules to leak into the brain.
There is also evidence that a compromised BBB contributes to epilepsy (Vliet et al, 2014) and to autism spectrum disorder (Jagadapillai et al, 2022).
Given that BBB breakdown has been implicated in several neurodegenerative diseases including Alzheimer’s disease and Parkinson’s disease, scientists are working on ways to restore the integrity of the barrier.
In the meantime, we need more research to improve our understanding of the brain pathology of ND.
Prof. Pascal Senn
Head, Division of ENT and Head-and-Neck Surgery
University Hospital Geneva
Based in French speaking Switzerland, the foundation Action FRSA supports people who are deafblind or deaf, with or without other disabilities, of all ages and intellectual levels.
Established in 1903, SNABLIND is the umbrella body for Swiss charities for the blind. They are committed to ensuring that blind, deafblind, visually impaired and hearing and visually impaired people can live to their full potential and as independently as possible.
Retina Suisse is an association of patients with retinitis pigmentosa (RP), macular degeneration, Usher syndrome and other diseases of the fundus of the eye.
If you are a person living with Norrie disease, a parent, guardian, or someone in charge of the affected person, then we invite you to become a member of our association.
Membership is free and is open to families worldwide.
Advantages of becoming a member:
- you will have access to a private online group for members. This is a safe space for families to connect and share their experiences.
- you will receive regular updates about the association’s progress and news pertaining to research.
- you will receive an invitation to participate in the annual general assembly.
- you will have the right to vote.
By becoming a member, you support us in our mission to find treatments. The more families we have, the better our chances of making our voices heard. There is strength in numbers!
To become a member, please send us a message with the name, age, & symptoms of the affected person.
We will get back to you as soon as possible once your application is approved by the committee.
Please know that all data will be treated confidentially and will only be used within the framework of a register for statistical purposes and for our communications with you.
The statutes of our association were adopted at the constitutive general assembly. They are written in French and English, but only the French version is legally binding.