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.
You didn't find out you had Jansen's until you had your sons and then everyone had a genetic test. Why hadn't the doctors suggested that you get a test once you were an adult and they were available?
What happened was I lived with these misdiagnosis because at the time I never thought I would get married or have children of my own and it never came into question. I ended up meeting my husband online. He was in Nebraska when I was in Dubai. When we started talking, it wasn't anything romantic at all, but a cultural sharing experience and he was interested in Dubai and life in Dubai. After talking for over a year, he said he would be visiting Dubai and I was terrified at that point of being in a relationship. With a disability, I was full of self-doubt. You're programmed to think that way– that married life isn't for you and that it would be complicated. When he came to Dubai, it was like I had known him forever, he was never put off by my physical limitations or how I looked. I was so nervous, I dropped coffee all over him when we went out for coffee. I had never been out with anyone before and it was nerve-wracking. Two weeks later, we were married. We were after the same things. He was adamant about supporting all that I was doing. I was part of a special needs group in Dubai to promote people with disabilities and working to give them access to the community and he wanted to be a part of that. I think that's where we really connected. Two years later when we were thinking about starting a family, we knew we had this condition and we went to see a doctor who said we would never have children. Even at that time, no one knew what I had, even after being tested. We were in the process of adoption and then I was pregnant. The doctor said I wouldn't be able to carry the baby to term. All along the pregnancy was normal, we had no indication that the baby had any abnormalities or was affected in any way. He was 9 pounds when he was born. For a year and a half, we just enjoyed him. Everything was great, everything was fine and he was nothing like me. He was thriving. Two years later, I was pregnant again. During that pregnancy, I was about four months along when I realized that my older son was showing signs, like his feet turning inwards and he was having trouble walking. The doctors told us he had too much calcium in his blood, that his phosphate was high and all these metabolic things that I never really had. I quit my job and spent the next few months searching for information online. I didn't know what all of the metabolic readings meant, I didn't know what I had and I didn't know how to help my son. It was a puzzle that we had to piece together bit by bit with no help whatsoever. My father in India suggested I see a doctor and I did. We drove 7 hours, we waited in the waiting room for over 5 hours and we finally saw the Pediatric Geneticist. She took one look at the x-rays and said she knew what we had. She had been in Germany and been to a skeletal dysplasia class and the professor had shown a slide of a Jansen's patient and told the class they would never see a patient and skipped the slide. This doctor remembered the slide and when she saw our x-rays, she put two and two together. We were at the right place at the right time 32 years later. Our blood was sent off for genetic analysis at that time and it came back positive for Jansen's disease. There were a few articles online we accessed about the disease, associated with Dr. Harald Jueppner, a Pediatric Nephrologist at Massachusetts General Hospital and we knew we had to move stateside. At that point I was reading that patients develop kidney issues, that they don't live to adulthood, that there can be a long prognosis of dialysis and things like that. Our life in Dubai was over, so my husband moved to Nebraska, I filed all of my paperwork and joined him two years later. By then, my kids were in such a bad state that they needed medical intervention. They had a series of surgeries in 2015 and I was trying to touch base with Dr. Jueppner. We finally met him in 2016 at Rare Disease Day. He had been researching this condition for 20 years, but never met a patient. He got our blood and knew that somewhere in the Middle East there was this mother and her two children with Jansen's and he had been trying to locate us because he was so interested in us. The following year, we set up the Jensen's Foundation. We visited his lab and realized they had done so much work in this area and it was all sitting there on the shelf because they didn't have anyone driving it and there wasn't a need to develop it. The foundation has been supporting their research since 2017. We're fortunate to have an amazing scientific team, the best in Endocrinology and really phenomenal human beings.
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.
Tell me about all the things you've implemented back home.
One of the reasons I was never diagnosed is because I'm one of the few patients in medical history that didn't present the usual symptoms of Jensen's. I'm unique in that way. Had I been diagnosed, I probably would have never had children, I would never be on this path and we wouldn't be where we are, so in a way I'm thankful. I'm able to make an impact in our community and in our disease area. All these new patients that have been found and diagnosed through setting up our foundation, they're able to get support and rely on us for information. Everything happens for a reason and this is my reason.
What advice do you have for the parents who have kids who aren't hitting their milestones, who don't have a diagnosis yet and who don't know where to turn?
I've been in that spot not knowing. Don't give up. Even if it takes 32 years, you will eventually get there and with that knowledge everything will transform overnight and you can make up for that lost time. The Undiagnosed Center at the NIH is very helpful. There are so many resources out there to help you, so it's a matter of perseverance. It can be exhausting, but document everything and don't give up.
What are your goals for the next 5 years for the Jansen's Foundation?
Our preclinical data is showing some really amazing results from the drug. Our goal is to get all of the kids in the trial this year, or at least me to be sure it's safe. Our real goal is to be able to treat this disease to reduce the number of surgical interventions and prolong lives in a productive manner. Also, we want to consolidate all of our lessons we've learned from this journey to help other rare disease patient groups and give hope to others. What we learn from this is really a blueprint for other people to pick up on. We're looking to share this information with other groups and even partnering with them to create a bigger network.
CONNECT WITH NEENA NIZAR
The Jansen’s Foundation Website: https://neena-nizar.squarespace.com/
Email: info@thejansensfoundation.org
Facebook / Instagram: @thejansensfoundation
Twitter: @neenanizar
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