The child was diagnosed with a rare genetic disorder, and the treatment cost $2.5 million

  • Jerry Landman’s daughter, Lucy, has a rare genetic condition that causes significant disabilities.
  • Landman founded the non-profit organization Moonshots for Unicorns to help find cures for rare genetic diseases.
  • This is Landmann’s story, as told to Kelly Burch.

This article is reportedly based on a conversation with Jerry Landman. Edited for length and clarity.

The first sign that something was different with my daughter, Lucy, was that she fell asleep for the first two weeks of her life. I am a mother and a pediatrician for the third time. I’ve reassured a lot of anxious moms during that bedtime, so I’ve tried to do the same for myself. After all, postpartum anxiety is more common than rare genetic disorders.

Then Lucy woke up, and seemed to be developing normally. She had some delay, but the doctors thought it was minor. But when Lucy was 8 1/2 months old, she fell ill on a family trip to Panama. Suddenly she was regurgitating, unable to sit up or eat solid foods.

I knew something was very wrong. When we got home I took her to the ER, but her test was clear. However, as a physician and mother, I knew something was off. She begins videotaping Lucy’s symptoms, including her inability to raise her head.

After watching the videos, Lucy’s doctor ordered extensive testing, but everything returned to normal. That’s when I suggested genetic testing, which would change our lives.

Lucy has a condition that is diagnosed in fewer than 50 children in the world

I was home with Lucy when I got a text from her doctor. She said Lucy’s genetic test results came back and she was very worried. I requested a Zoom interview in an hour.

I called my husband, also a doctor, who came home from work. We put Lucy in the bathtub because she loves bath time. Watching her, I thought it was inconceivable that anything could go wrong with our baby.

We joined a Zoom call, and Lucy’s doctor explained that Lucy was missing a gene called PGAP3. Without it, her cells could not communicate, and she would experience severe intellectual and physical delays. You will likely have seizures and will never walk or talk. We looked at our daughter, who was now standing on the coffee table smiling at us, and knew that couldn’t be true.

Unfortunately, our denials did not last long. That night, we made use of our medical background and went through all the research we could find on PGAP3. By morning we knew this was Lucy’s diagnosis. We told our two oldest daughters, who are 6 and 8 years old. We spent a lot of time walking as a family, and we spent a lot of time crying.

We knew that therapy might be available, but it was very expensive

After a week I realized we can’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’s anyone who can change Lucy’s story, it’s us.

We emailed anyone who had researched PGAP3 and contacted doctors who had performed gene therapy that was highly effective on other genetic conditions. One responded by email saying she thought she could help. But it was very practical: On the low end, she told me, the cost to develop the treatment would be $2.5 million.

I always have insurance, so I never felt like healthcare was out of reach. This was the first time I ever felt this way. To hear that there was a potential cure, but to have it out of my reach financially was a crushing blow.

I founded a non-profit organization to streamline the search for a cure

I knew there had to be a way, so I founded a nonprofit organization with my husband. The reason gene therapies are so expensive is that the FDA approves each of them individually rather than accepting the safety of proven delivery methods. Our research aims to simplify this in order to develop treatments for thousands of rare conditions.

Because of our research, clinicians understand more about PGAP3 than ever before. They reused 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 talks about her condition — but she’s still babbling, which is an excellent sign. Most children with PGAP3 stop babbling by the time they are 15 months old, and Lucy is 17 months old now. Every day you make progress, which gives me more and more hope.

There is 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 not be able to do these things. This is a sadness we all share. However, there is a lot of hope in science. I truly believe this research can change the lives of Lucy and other children like her.

Jerry Landman and her husband, Zachary, are co-founders of the nonprofit Moonshots for Unicorns. They aim to raise $1.3 million by the end of 2023 to bring their research closer to clinical trials. Follow Lucy’s Instagram story @Lucythepgap3goose.

Leave a Comment