About six years ago, before the horribleness that no parent should have to go through, Ron Garber and June Garber Cheng were welcoming their first child into the world and dealing with all the new-parent anxieties that any other new parent deals with.
“We went home sort of thinking everything was great, and had that period of newborn bliss: sleeplessness and excitement and fun,” Ron Garber said. “And when she was about six weeks old, she missed her first milestone. She wasn’t smiling on time.”
Doctors were unconcerned at the time, and continued to be even as more milestones that you’d expect an infant to hit were ultimately missed. Ron and June grew more concerned and began pushing for more and more testing to be done.
They asked “can we see a neurologist, can we get an MRI, and then all the labs and doctor’s appointments and stuff would sort of come back normal,” he said. “That set us basically on an 8-month odyssey to figure out what was going on, and all the while her challenges were getting worse and worse.”
In the middle of that odyssey, however, a complex genetic test told them that Yaya was born with 4H Leukodystrophy, a rare genetic neurological disease that primarily affects children, results in significant disability and early death and that does not yet have a treatment or cure.
A few weeks after her first birthday, Yaya passed away because of the disease.
The story of how the Garbers started the Yaya Foundation for 4H Leukodystrophy is a tragic one. But the reason the foundation exists is that there was nowhere to turn to for support.
“When she was diagnosed, I remember going online and looking for the American Cancer Society of 4H Leukodystrophy,” he said. “we got our diagnosis, let’s plug into a family community and a research community and support research and like, figure this out. But there was no American Cancer Society for 4H. There was no organized patient community. We decided to [start] one.”
What Is 4H Leukodystrophy?
4H Leukodystrophy is caused by mutations in one of three genes, and is inherited when both parents carry the genetic mutations — often without knowing they are carriers.
Symptoms in children typically show when they are infants or toddlers, but sometimes may not appear until they are older. While Yaya passed away because of the condition, it isn’t necessarily always fatal at that young an age — but Garber characterized it as life-limiting.
“We’re still learning about the spectrum of 4H,” he said. “There are particularly severe cases, like Yaya’s. And there are particularly non-severe cases where kids live into their 20s, maybe even into their 30s and maybe beyond.”
One of the foundation board members, Garber said, has a 19-year-old daughter who has the disease, but is now starting to face some challenges.
“There’s like high variability in terms of how it presents but it always results in early loss of life,” he said.
Early Success
There were modest goals when the Yaya Foundation was started: raise some money, hand it off to researchers and let them do good work with it. However, in just three years, the fame has gone much wider than planned.
The Chan Zuckerberg Initiative brought it into its Rare As One Project, which supports “patient-led organizations working to improve the lives of people affected by rare disease.” Yaya Foundation is one of 50 grantees.
“We have built a collaborative network of researchers and clinicians across the globe, we have launched an innovative data collection program, and we just funded gene therapy projects, which is the first step on the pathway to what would be new therapy that could help people like Yaya, who are affected by this disease,” he said. “Where we’ve reached has exceeded mine and my wife’s wildest dreams.”
But getting started wasn’t easy — and not just because of the hurdles that come with starting a 501c3 or any of the medical regulatory headaches. It was the grief.
“It was really, really hard for us emotionally to one step in front of the other. Not only in life, but also in trying to get the foundation started,” he said. “That was the hardest bar at first. But what I’ve learned is that when channeled, grief is a really strong source of energy. And it has really energized me and the foundation has enabled us to build a really special team and, and achieve a lot of great achievements on behalf of our disease community.
A playful Yaya has some “tummy time.”
“That’s been really heartening, and a really great source of comfort to us as we have sort of tried to move forward with our lives. We wanted to do something like it right away; it was clearly so important, because we saw that our journey to diagnosis and all of the things that happen after and all the challenges we faced, we saw had to be addressed for people like Yaya and the other families like ours,” he said.
Thanks to a “significant matching grant” that was available from a corporate foundation, the Garbers kicked into gear.
“The the idea had been sort of kicking around fora year or two and we said ‘Okay. We’ve got to get our get our act together and do this now,’” he recalled to the end of 2018. “We really hustled and that enabled us to get this matching grant which was the big push from outside that we needed and we made really, really quick progress thereafter.”
The foundation has two staff members and an 11-person board — including Ron and June, and works with researchers around the world.
“I’m really proud that we are seen as the trusted representative of the Four H community by researchers and by clinicians, and now by families,” he said. “About twice a month at least, we get a new patient or a new family reaching out to us, which is really significant given the numbers associated with our disease.”
