A mother’s campaign for a cure
When her son Calvin was diagnosed with Pitt-Hopkins syndrome (PTHS), a rare genetic disorder characterized by delayed physical development and severe mental retardation that has been identified in only about 300 people worldwide, Audrey Davidow Lapidus knew she had a choice: Succumb to despair or make a difference. She chose the latter.
Less than three years later, the Lapidus family’s efforts have, according to the leading researcher in the field, helped “accomplish nothing short of amazing.”
Audrey and her husband, Eric Lapidus, welcomed Calvin, their second child, in February 2011 — a baby boy with a full head of dark hair and an unusually large nose.
All seemed fine initially. But as the months progressed, Calvin failed to reach expected developmental milestones. He didn’t roll over. He didn’t crawl. The couple knew something wasn’t right. Audrey Googled “large nose and developmental delays.”
“Everything came up,” she said. “I started freaking out.”
The West Hollywood couple took their son to a phalanx of doctors — pediatricians, geneticists and neurologists — but none of them could find a problem. One neurologist told them, “He’s fine. Call me when he graduates Harvard.”
But Calvin wasn’t fine. The fourth neurologist suspected Calvin might have a rare genetic disorder. A newly developed genetic test revealed that Calvin had PTHS, an alteration in one of the genes of the 18th chromosome.
An autism spectrum disorder, PTHS is characterized by moderate to severe intellectual disabilities; difficulty with walking and balance; breathing abnormalities; seizures and an inability to speak. Life expectancy is unknown as most of those who have been diagnosed are young children. There is no known racial or ethnic link.
Three years before Calvin was diagnosed, Theresa Pauca received the same devastating news about her son, Victor. The North Carolina mother searched the Internet, desperate to connect with another Pitt-Hopkins parent. Finally, she found a mother in the Netherlands who had posted on a message board of the National Organization for Rare Diseases. The two formed a Google Group to connect Pitt-Hopkins families, and eventually they and other families created the Pitt Hopkins Research Foundation. Through fundraising efforts including simultaneous 10Ks runs, the group raised about $30,000 over the course of three years.
When Audrey initially Googled Pitt-Hopkins and discovered Pauca and the foundation, she and Eric were relieved to find a community.
“It’s the last club you want to be a part of, but you’re desperate to be a part of the club,” said Eric, a television writer and producer. “Every special-needs family I’ve spoken to says that part of their life, they just don’t feel seen or heard or understood. Opening yourself up to a community of other families is the one place where you can feel understood and that you’re not alone.”
At the same time, the Lapiduses were dismayed at how little research focused on their son’s condition. Audrey, a former journalist and editor with Los Angeles Magazine and Angeleno Magazine, put her investigative skills to work. She found Dr. David Sweatt, a neurobiologist at the University of Alabama, Birmingham (UAB) School of Medicine, whose research involves how molecular mechanisms regulate learning, memory, language development and other brain functions. Audrey sent Sweatt an email asking him to consider doing research on Pitt-Hopkins, and promising to raise funds to support such efforts.
“PTHS is such a rare disorder that I had never even heard of it before,” recalled Sweatt, director of the McKnight Brain Institute at UAB.
He was intrigued by the disease and felt a moral obligation to explore it.
“Every human should have an equal opportunity for hope for a better life,” he said. “No one was working on it. It was in my area of expertise. … I felt I had a chance of doing some good.”
Calvin and his sister, Sadie.
Sweatt told Audrey she would need to raise about a million dollars to advance Pitt-Hopkins research sufficiently that federal funding agencies might take interest. Audrey promptly penned a fundraising appeal that the couple and their extended family members posted on Facebook and sent to everyone they knew.
Eric’s Hollywood connections helped. So did Audrey’s father, Jeffrey Davidow, a former ambassador to several countries, including Mexico. He helped secure some corporate contributions, including $30,000 from tequila-maker Jose Cuervo. Even Calvin’s older sister, Sadie, now 8, joined the fundraising action, holding bake sales, manning a lemonade stand and selling bracelets.
Within their first year of joining the Pitt-Hopkins community, the Lapidus family raised about $300,000 — 10 times what the foundation had raised up to that point.
Last year, the foundation awarded $320,000 in grants to researchers at four institutions, including Johns Hopkins and Massachusetts Institute of Technology (MIT). Another two researchers received grants of $55,000 each through the University of Pennsylvania’s Million Dollar Bike Ride, which raises funds for rare diseases.
And in July of last year, Sweatt received a $1.8 million, five-year grant from the National Institute of Mental Health to investigate the molecular and neural basis of PTHS.
“To my knowledge, it is the first research grant on Pitt-Hopkins syndrome ever to be funded by the [National Institute of Health], the major funder of biomedical research in the U.S.,” Sweatt said. “It simply wouldn’t have been possible for us to get this funding without the hard work and support of the PTHS Foundation group and the Lapidus family specifically.”
Audrey now serves as the president of the volunteer-run foundation. She helped organize the first PTHS symposium, held at MIT last September and attracting more than 40 researchers.
“It’s important that scientists be collaborative,” she said. “Some met a Pitt-Hopkins kid for the first time. They saw what they were fighting for and why we need them to work together.”
As the couple talked about all this outside on their front porch, Calvin, now 4, was inside having a session with an applied behavioral therapist. Animated and still displaying the thick, dark hair he boasted at birth, Calvin has some type of therapy — including physical, speech and occupational — every day of the week. He can understand what others say to him but cannot communicate with more than sounds, gestures or by using augmentative and alternative communication applications on an iPad.
Audrey remains hopeful about the outlook for her son because PTHS does not seem to involve structural or anatomical damage to the brain. Rather, it is a disruption of signaling in the brain. So theoretically, the signaling might somehow be restored.
“It’s in there,” Audrey says, referring to her son’s latent abilities. “How am I going to get it out?”