Geri and Zachary Landman's youngest daughter Lucy -- now 14 months old -- was diagnosed with a disorder in her PGAP3 gene that has no treatment or cure on the market, making her one of approximately 50 patients worldwide.
While living with their daughter's disorder and launching the nonprofit Moonshots for Unicorns have come to be focal points of the Landmans' lives ever since, with numerous hurdles to clear in seeking to develop a treatment and cure, they said that getting a diagnosis in the first place was a challenge.
"Kind of one of the tenets of medicine is if something's not going to change what you do, then why waste the cost or time of testing for it," Zachary Landman said. "It's a chicken and the egg situation because we don't test for it because there's no treatment for it, and there's no treatment because there's no testing for it."
It was Geri Landman's expertise as a pediatrician, and the couple's professional connections in the medical world, that led to their persistence in finding a diagnosis for their daughter paying off.
"Geri was really concerned," Zachary Landman said. "She was like 'I'm not just a mother, I'm not crazy, I'm a pediatrician' and sent multiple videos of her doing weirder and weirder stuff, like falling over and not being able to sit up on her own."
He added that in many cases, the disorder results in diagnoses of autism and epilepsy, with no further exploration into the root cause of symptoms.
"If Geri hadn't been a pediatrician, and if I hadn't been working at Stanford, and if our neurologist didn't happen to have a personal connection to Geri while we were in the hospital, and also happened to be a neurologist specializing in genetics, Lucy never would have gotten this diagnosis," Zachary Landman said.
But despite their luck in getting a diagnosis, the Landman family was devastated by the result, with no hope in sight at first.
"Initially we didn't believe it, but it's of course true, and the follow-up testing showed that it was true. So we took a week off work and we cried, and her older sisters cried a lot too," he said.
The Landmans would go on to learn that the sense of helplessness they felt was all too common for families of patients with ultra-rare disorders. But unlike most, both physicians were able to use their expertise to push for solutions.
"I turned to Geri and said we can lay in bed the rest of our lives and feel sorry for ourselves, feel sorry for Lucy, or we can do something about it," Zachary Landman said.
The couple, who had met while attending UCSF, quickly jumped back into action.
"We just basically read every single research paper there was about PGAP3, and we just emailed basically every author, every scientist in the world working on it in a two to three week period," Zachary Landman said. "We understood the science, we understood the pathophysiology of the condition about as well as anyone else at the time."
Their efforts resulted in a whirlwind of meetings with doctors, scientists, and pharmacy CEOs across the world, and an upcoming meeting with White House representatives.
The good news, the Landmans discovered, was that gene therapy offered great promise for treating PGAP3, as well as other ultra-rare genetic conditions. The bad news, however, was that the rareness of the disorder meant a lack of market demand.
"Ultimately, our healthcare system is designed around for-profit, market-size developments, so it's not the fault of the people or the scientists that work on developing medicines, but we've been told multiple times that ... PGAP3 would be perfect if you could find 1,000 kids in the world -- even better in the United States because they can afford it then we can absolutely cover the cost of developing the medicine," Zachary Landman said.
With the goal of both developing treatment for their daughter, as well as addressing the lack of access to gene therapy for ultra-rare disorders, the Landmans launched the nonprofit Moonshots for Unicorns.
"Unfortunately, because there are simply not enough kids known to have Lucy's genetic disorder, no pharma company, government, or investor is interested in funding this research -- it has to be us," Geri Landman said on a GoFundMe page for the endeavor.
Geri Landman also emphasized that she and her husband's positions as physicians puts their daughter in a unique position for developing and receiving treatment.
"No child in the world with her condition has had the opportunity to have an effective treatment so early in life, which means that the sky is the limit to what we can do for her," Geri Landman said.
Zachary Landman noted that while the couple is fortunate to be in a position to address the lack of treatment, the organization's mission is to make the same opportunity available to all.
"We're looking at Lucy and saying we want to get a treatment into her as soon as possible," Zachary Landman said. "(It's) about $2.5 million to get a treatment developed. That's why we created Moonshots -- to hopefully have it so that no parent ever has to go to sleep at night being told what we were told, which was being told there's no treatment and no cure, and nothing you can do for your child."
With Moonshots for Unicorns, the Landmans are also seeking to help other families of loved ones with ultra-rare genetic disorders to feel less alone, and to find power in numbers. Zachary Landman, who comes from a family of physicians, said that he was also seeking to spread a message his father had left him with.
"My father actually throughout his career was a pediatrician and he took care of ... probably kids just like Lucy his whole career," Zachary Landman said. "The piece of advice he gave me was he said 'Look, it really sucks and you can't see it now but over time what I found by working with families for years is that oftentimes your family will grow closer together and be much stronger because of this.'"
Zachary Landman said this had proven to be the case for his own family, and that the renewed connections between them were serving as further fuel for Moonshots for Unicorns.
"For anyone that is recently diagnosed or just having gone through this for the first time, we're only five months into this but we're really grateful for the way it's brought our family together and the way it's kind of aligned us," he said. "It gives you a kind of completely different perspective in life, and that's certainly true for Geri and me."
More information on Moonshots for Unicorns, and updates on the latest developments in the research at the organization's pop-up lab, is available at moonshotsforunicorns.org.