She Was the Footnote in a Lecture. Now She’s the One Writing the Story - with Neena Nizar.

Neena Nizar grew up in 1980s Dubai with no diagnosis, no accessibility, and no way to understand the physical pain or explain what was happening to her body. The buildings she needed to enter had no ramps, no elevators, no accommodations - just staircases and stares.

So her dad carried her.

Every single day, he lifted her up two flights of stairs to school and brought her back down again. He didn’t ask for help. He didn’t stop to explain. He just did it. That kind of love doesn’t just lift and support you. It shapes you.

Neena would spend the next 32 years without a diagnosis. Doctors guessed polio. Rickets. “Vitamin D deficiency” was the catch-all of the era. Nothing ever added up. Then decades later, she had two sons. They were thriving at first. Then came the subtle signs - a waddle, bent ankles, high calcium levels.

Neena started digging again. She sent old X-rays and new scans all over the world. When she was nearly ready to quit, her father said, “Just one more doctor.”

So they drove seven hours to Kochi. Waited five more. And that’s when pediatric geneticist Dr. Sheela Nampoothiri looked at their X-rays and said, “I know what this is!”

Jansen’s Metaphyseal Chondrodysplasia. A skeletal disorder so rare that, during a lecture, the professor skipped the slide entirely, saying, “You’ll never come across this.” But Dr. Nampoothiri hadn’t forgotten. And now, in front of her, stood not one, but three living, breathing patients.

From that moment, the course of their lives changed. Neena and her family moved to Nebraska, where she tracked down Dr. Harald Jueppner at Mass General. He had studied Jansen’s for over 20 years - mostly in mice - but had never met a single patient. They finally met in person at Rare Disease Day, where he told her, “I’ve studied Jansen’s for 20 years. I never thought I’d meet a patient. Let alone three.”

Neena still gets goosebumps every time she tells that part of the story.

It was a powerful, full-circle moment for him as a researcher who had only ever worked with mice, and for her as a mother and patient who had lived through decades of misdiagnosis.

Neena didn’t wait to be invited into the work. She jumped in as a partner.

She earned her doctorate. Founded the Jansen’s Foundation. “I built the foundation to move the science forward - but also to make sure no one feels as lost as I did.” She gathered samples, organized data, helped build a mouse model, applied for NIH grants, and partnered with researchers and regulators to push a clinical trial forward.

Neena's commitment extends beyond research. She actively participates in conferences around the world, advocates for disability access, and works tirelessly to ensure that the voices of rare disease patients are heard. She even makes time for baking - because joy and self-care aren’t luxuries. They’re resistance, too.

When asked about the future of rare disease research, she emphasized the importance of collaboration and patient involvement.

"None of us can achieve our goal of understanding, diagnosing, funding and treating rare diseases in a radically more efficient and effective way by ourselves."

As a rare disease mom myself to a boy who uses a wheelchair, I think about Neena’s dad a lot. I’ve carried my son up stairs, into clinics, onto planes. I’ve muttered plenty of choice words. I’ve felt the stares and the strain. But when I picture Neena’s father - steady, strong, carrying her without complaint - I’m reminded what a gift that kind of love is. And that my job is to carry that same energy forward - with action, with purpose, and without waiting for permission.

Love like that builds something. It builds someone. It builds a daughter who refuses to accept “impossible.” A mother who becomes the answer she never got. A woman who meets her rare disease with action, science, strategy - and maybe a little powdered sugar on top.

"I didn’t think I’d get married. I didn’t think I’d have kids. The world teaches you to lower your expectations when you’re disabled,” Neena says.

But she didn’t lower a thing.

Not because it was easy -but because it was necessary and her dad gave her the tools.

She’s raising her boys with that same no-ceilings mentality. And like most kids? They’re totally unimpressed. “Cool, Mom. Can we have snacks now?"

And when she finds herself staring at a flight of stairs again - whatever form it takes?

She’s not waiting at the bottom.

She’s already halfway up, reaching back for the rest of us.

-By Effie Parks, CTNNB1 mom & storyteller at Once Upon a Gene. Bearing witness. Following starlight. Carrying the fuel.

Written for the Curetopia story series - real families, real stakes, and the science that just might catch up because of it.

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