PARENTS AS RARE – EPISODE 076 Dr. Neena Nizar – Share Your #RareDiseaseTruth & Give Love A Chance
Dr. Neena Nizar started the #rarediseasetruth movement. She was misdiagnosed for decades, but now knows she shares a diagnosis with her two sons. Neena is a wonderful person, incredible advocate and the founder of The Jansen’s Foundation.
Can you tell us about yourself and your connection to the rare disease community?
I have a rare disease called Jansen Metaphyseal Chondrodysplasia, a skeletal disorder that affects less than 30 people worldwide. I had several misdiagnoses and was finally diagnosed after I had my second son. I married my husband and we were told that we wouldn’t have children. We were in the process of adopting when I became pregnant with our first son. He was born healthy and we didn’t know anything was wrong. Two years later our second son was born and we were notified during the pregnancy that something wasn’t right. That’s where the quest began and we started searching for a diagnosis.
What considerations did you and your husband have around starting a family?
We talked about it and had no idea if what I had would be passed on because no one else in my family shared my disease. Because we didn’t know at the time what I had or a good understanding of it and we really did believe the doctors that told us we wouldn’t conceive. We had conversations around the love we had to give a child, whether natural or adopted, and we knew we were ready for it.
How can someone respond when they’re navigating diagnosis and feeling disregarded?
I have learned to filter noise, to take away the emotion of a situation. If a doctor is saying something based on what he sees, I’ve learned in those instances to trust myself more. You owe it to yourself to be strong in those moments and see it for what it is– that the doctor doesn’t see or hear the full story.
Can you tell us about the #rarediseasetruth movement?
The hashtag was an organic creation that started during the pandemic. It upset me that covid treatments were released so quickly and it raised questions about why the rare disease community didn’t have treatments. I started venting on social media, calling out that we matter too. The hashtag caught on fire in ways I couldn’t have imagined and people still use it. It spotlights rare everyday, and we’re growing the population of people who are speaking openly and fearlessly.
LINKS & RESOURCES MENTIONED
The Jansen’s Foundation – https://www.thejansensfoundation.org/
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