She Found the Backdoor - One Mom’s Hack on Genetic Diagnosis w/ Julia Taravella

I met Julia Taravella in a Seattle coffee shop in 2022, after she messaged me while she was in town from New Orleans. She’d been listening to my podcast. She told me her story so nonchalantly and glossed over the part where she taught herself genetics, wrote her own algorithms, and diagnosed her two boys because no one else would. She reminds me of one of the best movies of all time - Hackers. If you haven’t seen it, you really need to throw on some roller blades and get your priorities straight. Julia’s the rare mom version of this movie. A White Hat with zebra stripes - obviously. She's calm, deliberate and like all determined rare parents, a bit dangerous.

Julia didn’t set out to be a genetic sleuth. But when doctors dismissed her sons’ developmental delays as 'just autism,' she knew she had to figure it out herself. Instead of presents she ordered consumer genetic tests as Christmas presents for the whole family back when that kind of thing was still fringe and very expensive. She downloaded the raw data most people didn’t even know was there nor would they care to understand it. Knowing she needed to speak the same language as the code she was reading, she took online genetics classes next.

"When the doctors brushed off my genetic data, I knew I had to take matters into my own hands," Julia recalls. "You have to say no to 'no.' That was the moment I knew the system wasn't going to hand me answers and that I had to find them myself." She wrote her own algorithms to analyze the data, comparing hypothetical combinations of her and her husband’s DNA against their sons’- DIY that ultimately led to the answer of the boys' true diagnosis: Aspartylglucosaminuria (AGU), an ultra-rare disease. She’d found the right backdoor. AGU may have just messed with the best and thanks to Julia, her sons might not be left to die like the rest.

She traveled to Finland, once a hub of AGU research, only to find progress stalled and labs deserted. There was that 'no' again. So she partnered with a French family and launched the Rare Trait Hope Fund and transformed it into a global call to action.

"We're not part of the 10%, we're the 0.1%, and that's our superpower," Julia says, boldly challenging the current narrative about rare disease being rampant. "Everyone keeps trying to make rare disease sound common to get attention, but maybe the real story is that we're rare for a reason. We're not diluted. We're focused. We're agile. We build tighter communities, we move faster, and we’re forced to innovate. That’s not a disadvantage - it’s an edge. Rare disease is like the internet was and it’s the next great breakthrough innovation." When I asked how she’s navigated the rare disease landscape she didn’t hesitate. She’s careful about who she lets in. "Trust," she says. "You test the signal. If something feels off - you cut the connection." She has built a trusted network carefully. No flashy allies, just a tight inner circle who share code, share risk, and have your back when the system crashes.

She has been busy since she was told "no." Julia developed a small molecule therapy - a "patch" published in Nature. It has helped stabilize the condition for her sons and other AGU patients while they work towards a more permanent system upgrade of a gene therapy. She's now preparing an IND application for the gene therapy, identifying the regulatory system's weak points and ready to execute her carefully planted code for ultimate success.

Low-key but relentless, Julia Taravella doesn’t wait for the system to catch up. In the world of rare disease, she isn’t Zero Cool or even 0.1 Cool - she’s Ultimate Cool. I have no doubt she’ll crack the code. And when she does, she’s going to share the data to help others. No spotlight, just impact. She may just close the laptop, disappear into the background and the system will be better because she touched it. Hack the planet and make a difference.

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