ONCE UPON A GENE - EPISODE 019

Neena Nizar and the Jansen's Foundation

My guest today was misdiagnosed for decades and now she shares a diagnosis with her two young boys. They were all born with an extremely rare disease called Jansen's Metaphyseal Chondrodysplasia. With this disease, the body loses its ability to form bone properly and numerous surgeries are often required to correct the bones. Neena Nizar moved her family from Dubai to America to get the help they needed for this disease. She is a huge advocate, creating the Jansen's Foundation and working with doctors and researchers to find a cure for this disease. She's working tirelessly to give hope to so many in the rare disease community. 

EPISODE HIGHLIGHTS

Tell me about your story of diagnosis with Jansen's. 

I didn't know I had Jansen's for 32 years. Before I got married or had children, I was born and raised in Dubai in the Middle East. I was born in the 80's before there was Google and before there were experts or rare diseases on the radar. I was misdiagnosed several times as a child with Polio and Rickett's and all sorts of other bizarre conditions. It was hard for my parents to know what was wrong with me. They did know I didn't have any of the diagnosis we were being given, but lacking the information, they didn't know what else it could be. Not knowing and just going by what the doctors said we had to do, that's what we did. 

Is your experience as someone with a disability, the same one as your kids, a gift that you can give them perspective?

I feel like it's a double-edge sword. Yes, I have real empathy for my children because I've been through a similar situation, I've been through so many surgeries as a child, I've seen doctors around the world. I have to really understand that my children are not me and I am not them and I need to understand that as I parent, some of the reactions my boys have are not always reactions that I would have as a child. I have to keep constantly reminding myself that they're their own individuals and even though they share the same condition, they experience things in a different world and environment. I respect that, I have to learn to understand that and try not to impose my character on them, but allow them to blossom as individuals, and also independent from one another. I don't think it's easier to parent them because I have this disease as well. I think it's harder in ways and easier in ways. We don't have a treatment for them and we're in the same boat as I was 30 years ago, so these are the hard realities I have to accept, face and learn from– and then also change.

Are all 30 Jansen's patients in the patient research?

There are 30 people in the world since the time of the disease's discovery, but right now there are only 10 people with this disease. We're hoping that all of them will be in the trial.

 CONNECT WITH NEENA NIZAR

The Jansen’s Foundation Website: https://neena-nizar.squarespace.com/

Email: [email protected]

Facebook / Instagram: @thejansensfoundation

Twitter: @neenanizar

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