Right after my daughter, Maggie, was born in 2012, she held her hands clasped together against her chest. “Like she’s praying!” a nurse said in a singsong voice. But when the pediatrician walked in, the mood changed. “Praying?” she asked, her voice tight. The nurse and I stepped back while the pediatrician gently moved Maggie’s limbs, testing how much they could straighten or bend. While some tightness in the hips or knees can be normal for a newborn, Maggie’s joints were unusually tight and her limbs could not straighten all the way.
The pediatrician pointed out the rounded soles of Maggie’s feet. “A handful of genetic conditions can cause the shape of her feet. Most of them are fatal,” she said.
I stared at her, unable to process the word “fatal” in connection to the brand new, six-pound person I’d brought into this world.
Over the next seven days, I rarely slept. The children’s hospital put me up in a Ronald McDonald house a mile away from the NICU, where Maggie had been transferred. Every three hours, I walked to the NICU to breastfeed and pump. I was anxious and scared, signing off on procedures and tests, and answering dozens of questions about my pregnancy, diet, lifestyle and family history. By the time Maggie left the hospital, she had been seen by neurology, genetics, internal medicine and orthopedics.
Then the results came: she had tested negative for the scary fatal conditions. The relief floored me. But she also tested negative for every other known diagnosis.
“Why are her joints stiff?” I asked her last doctor right before discharge. He shrugged and said, “We can only get to know her as an individual. Sometimes it is not a bad thing to see how unique each person really is.”
I agreed that accepting my daughter’s differences was essential. But I worried that the physicians had missed something. For the next two months, I sat in front of the computer, flipping through Maggie’s 50-page medical chart and searching terms like “multiple joint contractures”, “vertical talus”, “high arched palate” and “micrognathia”.
Eventually, I discovered pictures of children with similar limbs in medical journals and studies about arthrogryposis multiplex congenita, or AMC – an umbrella diagnosis describing infants born with multiple contracted joints.
I showed Maggie’s new pediatrician screenshots. The condition was incredibly rare, he said; in his 30-year career, he had met only three babies who looked like my daughter, all during his time as a military physician overseas. He referred us to the closest specialty clinic, which was five states away in Philadelphia.
“She has a community. You just haven’t met them yet,” he said.
I knew the trip would be daunting with an infant and Maggie’s two-year-old sibling in tow. But for the first time, I had some answers and knew where to look for more.
Six months later, Maggie and I arrived for her first appointment at the clinic. We saw five specialists, which took nine hours. Some mysteries were solved. I learned the term for her feet: “rocker bottom”, the soles curving like the bottoms of cartoon boats. Surgery could guide them to grow flatter and arched, so she could learn to bear weight and eventually walk.
Since birth, Maggie’s elbows had loosened, but her knees still didn’t flex all the way. We would need to take annual weeks-long trips to Philadelphia so the doctors could slowly stretch Maggie’s ankles and knees, wrap them in casts, saw off the casts a week later, stretch a little farther, and cast again.
Still, we had no diagnosis. “What caused all this?” I asked the doctors. I was afraid to voice my other questions: Will she walk or talk? How different will she be from her sibling? What decisions will I have to make? How will I know what is right?
In the United States, parents of the one in six children with developmental delays ask such questions every day. For the approximately 15 million children who have received a rare diagnosis, defined as one that affects fewer than 200,000 people, the future is unknowable. Some diagnoses, like Maggie’s, are so rare that they aren’t seen as profitable subjects for research funding. People with these “orphan conditions” have to rely on themselves, their families, and grassroots endeavors to fund and discover treatments.
Navigating the maze of anxiety and “what ifs” felt relentless. Then I joined a Facebook group dedicated to the AMC specialist clinic we had visited, where parents shared pictures of their children, diagnoses, concerns, treatments and contact information for specialists.
I introduced myself and posted pictures of Maggie. Immediately, Alyssa Wolfe, a mother and nurse, messaged me. She pointed out that her daughter, Delaney, had the same rocker bottom feet as Maggie, a rarity in the group. Our daughters both had one middle finger stuck flexed at the joint, and similar faces: a small chin, and a broad nose bridge that makes their eyes look farther apart than most babies.
Delaney was three years older than Maggie. For years, I tracked Alyssa and Delaney’s progress through treatments, surgeries and diagnoses. Having another parent to talk to about major decisions was a huge relief.
Maureen Donohoe, a physical therapist, was also in the group, as she worked with many children with arthrogryposis. She had been gathering stories from patients like Maggie and Delaney because they “were different from the others with AMC, but they had so many of the same characteristics, it was impossible to ignore”, she said.
Alyssa had met Maureen at an arthrogryposis conference before I joined the group. “In an elevator, Maureen approached me, listing off Delaney’s attributes. I asked her if she somehow read my child’s medical chart. Maureen told me, ‘No,’ but she had been hypothesizing with a geneticist about a syndrome, and she thought Delaney had it,” Alyssa said.
After coming across six patients with these characteristics, Maureen had told Dr Judith Hall, a clinical geneticist and pediatrician, this might be a genetic anomaly worth studying. “After Dr Hall looked at her own notes, she called me and said, ‘I have 10,’” she said.
Connecting with Alyssa and Maureen was the first major step in identifying Maggie’s condition. But what was the next step?
As Maggie grew, her development continued to be markedly different from that of other kids her age. By the time she was three, she could scoot but not yet crawl. Most kids her age with AMC had been mobile for at least a year. But one day, in physical therapy, she suddenly stood with the help of a toy shopping cart. Then she learned to use a walker. Over the years Maureen noticed a similar trend with kids like Maggie. “They do their best weight-bearing and walking around preschool age,” she said. “When they get older, they seem to have a harder time maintaining a center of gravity.”
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There was another big difference. Maggie was talking constantly, but her sounds were disorganized. Nobody could understand her. Most children with AMC alone had no speech problems at all. It was hard to find resources, but our speech therapist helped us get an iPad program that Maggie could use to talk. She’d press a button on a grid of images and common words, and the iPad would say the word.
Her first sentence blew me away.
Maggie was sitting at the dining room table eating breakfast while I washed dishes. “I need money,” her talker said in a mechanized child’s voice. I paused, holding a bowl. Maggie pressed the “talk” button again, and the sentence repeated. She pointed at my purse and threw her head back, guffawing. She’d made a joke. I said, “You need money!” over and over, laughing, nearly sobbing, dripping soapy water everywhere.
Within a year, Maggie was using her talker to ask for snacks and toys, to complain, to tell her new baby brother, “You’re cute!” At school, Maggie verbally repeated every word she or her friends pressed. By the end of the school year, the talker was gathering dust in our coat closet.
Maggie’s limitations and sudden moments of progress surprised even the doctors who specialized in arthrogryposis. At every turn, I wanted to celebrate her success, but the gap widened between her and the other kids with the condition.
Isolating a genetic anomaly is a “diagnostic odyssey” that many families embark on, said Dr Michael Bamshad, head of genetic medicine in pediatrics at the University of Washington. “There’s all this data that sits locked away in medical records. A physician in one state may know of three similar cases, a physician in another state may know about five,” said Bamshad, “but there aren’t many ways for those families to find each other.”
Bamshad, his colleague Jessica X Chong and their colleagues have researched the power of social media in genetic discovery. They launched a secure, free genetic information sharing site, MyGene2, in 2016. “Families and clinicians can share their genetic information to help them find answers,” said Chong.
Alyssa and I input our daughters’ data and hoped for more information. But the waiting game was long, and we felt powerless. Alyssa recently described it to me as a three-part process: “In the beginning, parents are typically very active on social media, trying to understand their kid and hoping to give them as normal of a life as possible,” she said. Then, “sometime in elementary or middle school, their development stalls” and the focus shifts from “fixing” the issue to maintenance through puberty.
This can all be “very isolating”, she said. “Parents with typically developing kids often stop hanging out with you.” But “an acceptance stage” can come via social media groups like ours, which are “sometimes the only place to find connection and friends who understand”.
In 2017, Catherine Paul-Fijten, a mother and molecular biologist who lives in Dubai, used Facebook groups to connect with parents whose kids resembled her daughter, Milou. I didn’t know about Milou yet, but she had the same physical traits as Maggie, who was five by then. Milou’s doctors had located a difference on the ZC4H2 gene shortly after birth, and Catherine organized a meeting of doctors and geneticists – including Maureen and Dr Bamshad – to review the current, albeit limited, research.
Maureen sat next to Bamshad, scrolling through pictures of Maggie, Delaney and other children with rocker bottom feet and tiny chins. Bamshad suggested that we both report our daughter’s symptoms on MyGene2 and apply for testing.
Within a year, the diagnosis was confirmed: Maggie also had an anomaly of the ZC4H2 gene. At the time, fewer than 50 people with a similar genetic difference had ever been identified. Catherine used personal resources to start a foundation to research the impacts of this new genetic diagnosis, updating a new, dedicated Facebook group regularly with insights. The diagnosis gave us a sense of belonging through the shared goal of understanding our kids and learning how to help them grow.
The dramatic impact of online support groups for children with rare diagnoses has been well documented for more than 20 years. Online information sharing among parents has been found to strengthen treatment and mental health support for families and children with Spinal Muscular Atrophy (SMA), neurologic disorders and other rare genetic disorders as well as more common diagnoses like diabetes and childhood cancers.
While the ZC4H2 gene difference is rare, research into rare conditions is crucial – “not just for the people who have that diagnosis – but for humanity as a whole”, Catherine said. That’s because “much of what we know about the function of the human genome comes from understanding the genetic basis of rare diseases”, said Bamshad, citing examples including common heart conditions and vaccine research. “What we’ve learned about rare diseases helps us understand the genetic and molecular basis of common conditions as well.”
The ZC4H2 group has nearly 200 members, though nearly 250 people with this condition have now been identified globally. Because of their stories, I was prepared. In 2023, at the beginning of sixth grade, Maggie suddenly presented with severe scoliosis, and I knew she would probably need a full spinal fusion because I’d heard about related complications from our ZC4H2 community. I shared this information with Maggie’s spinal surgeon, as well as a list of other surgeons who had had to manage these complications, and she formed a pre-emptive plan.
During Maggie’s spinal surgery, I let myself get lost in the labyrinthian halls of the hospital for hours, cellphone in one hand, operating room pager in the other. As with her previous 10-plus surgeries, I didn’t allow myself to imagine what was happening or what could go wrong.
As I stood in the hallway, I scrolled through encouraging comments and messages from Alyssa, Catherine and others. Despite our different jobs, family culture and background, we’d collaborated with doctors, scientists, physical and speech therapists – and each other – for more than a decade. Their support didn’t guarantee a perfect future for my daughter, but their generosity was a profound gift.
The operating room pager went off. My phone rang. The charge nurse told me my daughter was waking up, that surgery had been a breeze. I rushed to the recovery room, tapping the app to share the news while I waited for Maggie to be wheeled in. At the top of the feed, a new member had posted about her child’s fresh diagnosis, her questions, her fears. I abandoned my own update to type the words that changed the course of my life and Maggie’s childhood: Welcome! You are not alone.