About this Blog

Hello and welcome to my blog!

My name is Meenu. I live in Geneva, Switzerland with my husband Boorzin, and our son Ruzbeh.

Ruzbeh was born with a rare genetic disorder called Norrie Disease (ND). As a result of this he has the following issues: 

• Congenital, bilateral blindness
• Hearing loss
• Cognitive impairment
• Autistic traits

While the gene which results in these defects was identified in 1992, we have yet to find a solution for any of the symptoms associated with Norrie disease.

The efforts of a tenacious Norrie mum have thankfully led to a group of researchers working to find a cure for the hearing loss associated with ND. There is also an effort to find a solution for the brain related problems seen in many cases of ND.

But the road ahead remains a long and hard one.

I wonder how the above research is progressing. I wonder if, or when, we will be rid of the mental problems seen in some Norrie patients. I wonder too, if there are any advances in medical research which could help in restoring vision to Norrie patients someday. I wonder if something could be done to address the peripheral vascular disease experienced by some Norrie patients. I wonder why there is a great degree of variability of symptoms experienced by patients.

Here, then, is a chronicle of my ongoing attempt to find answers to questions, and questions to answer.

Apart from pounding the keys of my laptop to find relevant research studies, I also hope to interact with members of the scientific community.

Meenu Hodiwalla.

Disclaimer:

It is not my intention to provide false hope to anyone. Please be aware that research takes a long time to be translated from the lab to humans.

I take full responsibility for the content of blog posts. Views expressed in this blog are mine and mine alone and cannot be attributed to any group/association/society of which I may be a member.