- Geri Landman's daughter Lucy has a rare genetic condition that causes significant disabilities.
- Landman founded the nonprofit Moonshots for Unicorns to help find cures for rare genetic diseases.
This as-told-to essay is based on a conversation with Geri Landman. It has been edited for length and clarity.
The first sign that something was different about my daughter Lucy was that she slept through her first two weeks of life. I'm a third-time mom and pediatrician. I'd reassured many anxious mothers through that sleepy period, so I tried to do the same for myself. After all, postpartum anxiety is much more common than rare genetic disorders.
Then Lucy woke up, and she seemed to develop normally. She had some delays, but doctors thought they were minor. But when Lucy was 8 1/2 months old she got sick on a family trip to Panama. Suddenly she was regressing, unable to sit or eat solid foods.
I knew something was very wrong. When we got home I took her to the emergency room, but her testing came back clear. Still, as a doctor and mother, I knew something was off. I began videoing Lucy's symptoms, including her inability to hold her head up.
After seeing the videos, Lucy's doctor ordered extensive testing, but it all came back basically normal. That's when she suggested genetic testing, which would change our lives.
Lucy has a condition that fewer than 50 kids in the world have been diagnosed with
I was home with Lucy when I received a text from her doctor. She said the results of Lucy's genetic testing were back and she was very concerned. She asked to meet by Zoom in an hour.
I called my husband, who's also a doctor, and he came home from work. We put Lucy in the tub, because she loves bath time. Watching her, I thought it was unbelievable that anything could be wrong with our baby.
We joined the Zoom call, and Lucy's doctor explained that Lucy was missing a gene called PGAP3. Without it, her cells couldn't communicate, and she would have severe intellectual and physical delays. She would probably develop seizures and would never walk or talk. We looked at our daughter, who was now standing at the coffee table smiling at us, and we knew this couldn't be true.
Unfortunately, our denial didn't last long. That night we tapped into our medical background and pored over all the research we could find on PGAP3. By morning we knew this was Lucy's diagnosis. We told our older daughters, who are 6 and 8. We spent lots of time hiking as a family, and lots of time crying.
We learned that a cure may be available, but its price tag was huge
After a week I realized we couldn't do that anymore. Our life plan was not to lie in bed and cry. My husband and I are doctors in the Bay Area. If there was anyone who could change Lucy's story, it was us.
We emailed anyone who had researched PGAP3 and contacted doctors who did gene therapy that was highly effective for other genetic conditions. One of them emailed back saying she thought she could help. But she was very practical: On the low end, she told me, the cost of developing a therapy would be $2.5 million.
I've always had insurance, so I've never felt that healthcare was out of reach. This was the first time I felt that way. To hear there was a potential cure but have it so far out of my reach financially was a gut punch.
I founded a nonprofit to streamline research for a cure
I knew there had to be a way, so I founded a nonprofit with my husband. The reason gene therapies are so expensive is that the FDA approves each one individually rather than accepting the safety of proven methods of delivery. Our research aims to streamline this in order to develop cures for thousands of rare conditions.
Because of our research, doctors understand more about PGAP3 than they ever have before. They've repurposed existing supplements and discovered new avenues of treatment that were unknown six months ago when Lucy was diagnosed.
Recently, Lucy took her first steps. She hasn't spoken yet — no one with her condition does — but she's still babbling, which is an excellent sign. Most babies with PGAP3 stop babbling by 15 months, and Lucy is 17 months now. Every day she makes progress, which gives me more and more hope.
There's still heartbreak. My middle daughter often talks about the things she wants to do with Lucy when she's older, like having a girls' day at the movies. Lucy may never be able to do those things. That's a grief we all share. And yet there's a lot of hope in science. I truly believe this research could change lives for Lucy and other kids like her.
Geri Landman and her husband, Zachary, are cofounders of the nonprofit Moonshots for Unicorns. They're aiming to raise $1.3 million by the end of 2023 to move their research closer to clinical trials. Follow Lucy's story on Instagram @Lucythepgap3goose.