Terry Jo Bichell Set Out to Fix Her Son’s Gene. Then She Built a Platform to Help Everyone.

Terry Jo Bichell has the mind of a scientist, the soul of a midwife, and the delivery of someone who might’ve just wandered off stage at Woodstock with a notebook full of biomarker ideas.

She’s funny, dry, wicked smart - and the kind of person who explains complex science like she’s walking you through how to grow tomatoes in a bucket. She makes it sound bite-sized, doable - like something any determined parent could figure out if they had the right reason.

As she puts it, “All science is, is trying something and seeing if it works. And if it doesn’t, trying something else. You just have to set out the game, figure out the rules, and play again.” Her sentences float between molecular neuroscience and casual wisdom, and somehow, you keep up. Somehow, it sticks.

During our chat her son Louie suddenly pops into the video frame - he is 26 years old now and the reason why she’s still doing all of this. He’s still right there. Literally by her side. While she’s out here building a better research system for everyone else’s kid too.

She didn’t grow up dreaming of clinical trials. She was a midwife. She worked all over the world helping women advocate for their bodies, their births, their families.

But when Louie was born, everything changed.

He couldn’t breastfeed. He missed milestones. He cried endlessly. She knew something was wrong, but no one around her could tell her what.

So she carried him around on her hip through the streets of Mexico - just like the traditional midwives she worked with - and kept asking every doctor she met, “Don’t you think there’s something going on with this baby?”

Eventually, she got the answer.

Angelman syndrome, caused by a missing or inactive UBE3A gene.

And just like that, everything made sense - and the work began. “I thought, well... maybe we can just turn the gene back on.”

Most people would leave that idea to someone else.

Terry Jo applied to grad school at age 50. She finished her PhD. She worked on Angelman research. And then it hit her - this work wasn’t just for Louie.

A lot of the work she was doing could help kids with other genetic disorders too. Similar symptoms. Similar needs. Just different genes.

That was the seed for COMBINEDBrain, the nonprofit she founded to pool resources, data, and brainpower across 120+ rare disorders.

Need a biobank? A stem cell line? A shared patient registry? They’ve got it.

Want to start a natural history study or collect real-world data? They’ll help you do it without waiting three years for IRB approval and a seven-figure grant.

COMBINEDBrain was built to help early-stage rare disease groups get further faster - by sharing tools, infrastructure, data, and lessons learned.

It wasn’t about chasing big biotech grants. It was about practical, ground-level progress.

“You could fund your first stem cell line with a few good bake sales the way we do it through COMBINEDBrain,” she says.

She’s only half joking.

She built it because she saw what happens when rare disease orgs split up and start over, again and again.

“There just isn’t enough money, data, or time to work in silos,” she says. “Collaboration is the only thing that makes sense.”

Terry Jo’s vibe isn’t “wait and see.” It’s “what do you need, and how fast can we get it to you?”

COMBINEDBrain as a hub, not a hierarchy.

“Rare disorders shouldn’t be duplicating each other’s efforts - we should be supercharging them.”

That’s also why she’s so energized by what Curetopia is doing.

When she talks about Ethan Perlstein, she grins like she’s letting you in on a secret -

“He’s got ten brilliant ideas a year, and at least two of them work. That’s a really good average.”

But what she really admires is the way he blends innovation and urgency.

“He’s a scientist with the instincts of an entrepreneur. He experiments. He tries. And most importantly - he listens to parents. That’s rare.”

Terry Jo is also working closely with Unravel Biosciences on a powerful drug repurposing initiative. Families collect nasal swabs at home, RNA gets sequenced, and AI maps gene expression changes to highlight existing drugs that might help right now. Family-facing and faster than the system was ever designed to be.

And Terry Jo isn’t just about speeding up research. She talks to me about holding onto joy, too. Something that resonates deeply.

“Have a great day. Enjoy the day. Get a giggle out of the silly stuff that happens. And at the same time, in that exact same minute, try to fix it.”

That’s not silver-lining talk. That’s survival strategy.

The joy and the fire. Both are crucial. Both keep you going.

She once designed a reading program for kids with Angelman syndrome using bubble wrap as a reward. Not because she expected fluency, but because she wanted their brains ready when that UBE3A gene could someday be restored.

“We’re going to fill their brains with everything they need to know, so when we turn the gene on it’s already in there.”

If you’re reading this from outside the rare disease world thinking, “Wow, but this isn’t about me”?

She’d stop you right there.

“These kids are the canaries in the coal mine,” she told me.

The same genes that cause rare neurodevelopmental disorders are tied to cancer, Parkinson’s, Alzheimer’s. Rare isn’t niche. Rare is where the breakthroughs begin.

Terry Jo didn’t wait for the system to change. She built a new one and then blew open the doors.

COMBINEDBrain isn’t just a nonprofit. It’s a machine powered by the most relentless operators you’ll ever meet - parents, patients, and scrappy rare disease orgs who aren’t waiting for permission to move. They’re pushing science forward with every ounce of grit they’ve got.

They’re not just earning a seat at the table - they built the kitchen, stocked the pantry and the momentum isn’t slowing down anytime soon.

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

‍