Right after my daughter, Maggie, was born in 2012, she held her hands clasped together against her chest. \u201cLike she\u2019s praying!\u201d a nurse said in a singsong voice. But when the pediatrician walked in, the mood changed. \u201cPraying?\u201d she asked, her voice tight. The nurse and I stepped back while the pediatrician gently moved Maggie\u2019s limbs, testing how much they could straighten or bend. While some tightness in the hips or knees can be normal for a newborn, Maggie\u2019s joints were unusually tight and her limbs could not straighten all the way.<\/p>\n
The pediatrician pointed out the rounded soles of Maggie\u2019s feet. \u201cA handful of genetic conditions can cause the shape of her feet. Most of them are fatal,\u201d she said.<\/p>\n
I stared at her, unable to process the word \u201cfatal\u201d in connection to the brand new, six-pound person I\u2019d brought into this world.<\/p>\n
Over the next seven days, I rarely slept. The children\u2019s hospital put me up in a Ronald McDonald house<\/a> 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.<\/p>\n 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.<\/p>\n \u201cWhy are her joints stiff?\u201d I asked her last doctor right before discharge. He shrugged and said, \u201cWe can only get to know her as an individual. Sometimes it is not a bad thing to see how unique each person really is.\u201d<\/p>\n I agreed that accepting my daughter\u2019s 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\u2019s 50-page medical chart and searching terms like \u201cmultiple joint contractures\u201d, \u201cvertical talus\u201d, \u201chigh arched palate\u201d and \u201cmicrognathia\u201d.<\/p>\n Eventually, I discovered pictures of children with similar limbs in medical journals and studies about arthrogryposis multiplex congenita, or AMC \u2013 an umbrella diagnosis describing infants born with multiple contracted joints.<\/p>\n I showed Maggie\u2019s 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.<\/p>\n \u201cShe has a community. You just haven\u2019t met them yet,\u201d he said.<\/p>\n I knew the trip would be daunting with an infant and Maggie\u2019s two-year-old sibling in tow. But for the first time, I had some answers and knew where to look for more.<\/p>\n 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: \u201crocker bottom<\/a>\u201d, 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.<\/p>\n Since birth, Maggie\u2019s elbows had loosened, but her knees still didn\u2019t flex all the way. We would need to take annual weeks-long trips to Philadelphia so the doctors could slowly stretch Maggie\u2019s ankles and knees, wrap them in casts, saw off the casts a week later, stretch a little farther, and cast again.<\/p>\n Still, we had no diagnosis. \u201cWhat caused all this?\u201d 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?<\/p>\n In the United States, parents of the one in six children with developmental delays<\/a> ask such questions every day. For the approximately 15 million children<\/a> who have received a rare diagnosis, defined as one that affects fewer than 200,000 people<\/a>, the future is unknowable. Some diagnoses, like Maggie\u2019s, are so rare that they aren\u2019t seen as profitable subjects<\/a> for research funding. People with these \u201corphan conditions<\/a>\u201d have to rely on themselves, their families, and grassroots endeavors to fund and discover treatments.<\/p>\n Navigating the maze of anxiety and \u201cwhat ifs\u201d 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.<\/p>\n 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.<\/p>\n Maggie with her iPad, loaded with a program that she could use to talk. Photograph: Asha Dore<\/p>\n Delaney was three years older than Maggie. For years, I tracked Alyssa and Delaney\u2019s progress through treatments, surgeries and diagnoses. Having another parent to talk to about major decisions was a huge relief.<\/p>\n 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 \u201cwere different from the others with AMC, but they had so many of the same characteristics, it was impossible to ignore\u201d, she said.<\/p>\n Alyssa had met Maureen at an arthrogryposis conference before I joined the group. \u201cIn an elevator, Maureen approached me, listing off Delaney\u2019s attributes. I asked her if she somehow read my child\u2019s medical chart. Maureen told me, \u2018No,\u2019 but she had been hypothesizing with a geneticist about a syndrome, and she thought Delaney had it,\u201d Alyssa said.<\/p>\n 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. \u201cAfter Dr Hall looked at her own notes, she called me and said, \u2018I have 10,\u2019\u201d she said.<\/p>\n Connecting with Alyssa and Maureen was the first major step in identifying Maggie\u2019s condition. But what was the next step?<\/p>\n 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. \u201cThey do their best weight-bearing and walking around preschool age,\u201d she said. \u201cWhen they get older, they seem to have a harder time maintaining a center of gravity.\u201d<\/p>\n skip past newsletter promotion<\/a><\/p>\n Practical advice, expert insights and answers to your questions about how to live a good life<\/p>\n Privacy Notice: <\/strong>Newsletters may contain info about charities, online ads, and content funded by outside parties. For more information see our Privacy Policy<\/a>. We use Google reCaptcha to protect our website and the Google Privacy Policy<\/a> and Terms of Service<\/a> apply.<\/p>\n after newsletter promotion<\/p>\n Maggie made her first joke using the iPad program. Photograph: Asha Dore<\/p>\n 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\u2019d press a button on a grid of images and common words, and the iPad would say the word.<\/p>\n Her first sentence blew me away.<\/p>\n Maggie was sitting at the dining room table eating breakfast while I washed dishes. \u201cI need money,\u201d her talker said in a mechanized child\u2019s voice. I paused, holding a bowl. Maggie pressed the \u201ctalk\u201d button again, and the sentence repeated. She pointed at my purse and threw her head back, guffawing. She\u2019d made a joke. I said, \u201cYou need money!\u201d over and over, laughing, nearly sobbing, dripping soapy water everywhere.<\/p>\n Within a year, Maggie was using her talker to ask for snacks and toys, to complain, to tell her new baby brother, \u201cYou\u2019re cute!\u201d 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.<\/p>\n Maggie\u2019s 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.<\/p>\n Isolating a genetic anomaly is a \u201cdiagnostic odyssey\u201d that many families embark on, said Dr Michael Bamshad, head of genetic medicine in pediatrics at the University of Washington. \u201cThere\u2019s 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,\u201d said Bamshad, \u201cbut there aren\u2019t many ways for those families to find each other.\u201d<\/p>\n Bamshad, his colleague Jessica X Chong and their colleagues have researched the power of social media in genetic discovery<\/a>. They launched a secure, free genetic information sharing site, MyGene2<\/a>, in 2016. \u201cFamilies and clinicians can share their genetic information to help them find answers,\u201d said Chong.<\/p>\n Alyssa and I input our daughters\u2019 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: \u201cIn 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,\u201d she said. Then, \u201csometime in elementary or middle school, their development stalls\u201d and the focus shifts from \u201cfixing\u201d the issue to maintenance through puberty.<\/p>\n This can all be \u201cvery isolating\u201d, she said. \u201cParents with typically developing kids often stop hanging out with you.\u201d But \u201can acceptance stage\u201d can come via social media groups like ours, which are \u201csometimes the only place to find connection and friends who understand\u201d.<\/p>\n 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\u2019t know about Milou yet, but she had the same physical traits as Maggie, who was five by then. Milou\u2019s doctors had located a difference<\/a> on the ZC4H2 gene shortly after birth, and Catherine organized a meeting of doctors and geneticists \u2013 including Maureen and Dr Bamshad \u2013 to review the current, albeit limited, research.<\/p>\n 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\u2019s symptoms on MyGene2 and apply for testing.<\/p>\n 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.<\/p>\n The dramatic impact of online support groups for children with rare diagnoses<\/a> has been well documented<\/a> for more than 20 years. Online information sharing among parents has been found to strengthen treatment and mental health support for<\/a> families <\/a>and children with Spinal Muscular Atrophy (SMA)<\/a>, neurologic disorders<\/a> and other<\/a> rare genetic disorders<\/a> as well as more common diagnoses like diabetes<\/a> and childhood cancers<\/a>.<\/p>\n While the ZC4H2 gene difference is rare, research into rare conditions is crucial \u2013 \u201cnot just for the people who have that diagnosis \u2013 but for humanity as a whole\u201d, Catherine said. That\u2019s because \u201cmuch of what we know about the function of the human genome comes from understanding the genetic basis of rare diseases\u201d, said Bamshad, citing examples including common heart conditions and vaccine research. \u201cWhat we\u2019ve learned about rare diseases helps us understand the genetic and molecular basis of common conditions as well.\u201d<\/p>\n 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\u2019d heard about related complications from our ZC4H2 community. I shared this information with Maggie\u2019s spinal surgeon, as well as a list of other surgeons who had had to manage these complications, and she formed a pre-emptive plan.<\/p>\n During Maggie\u2019s 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\u2019t allow myself to imagine what was happening or what could go wrong.<\/p>\n 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\u2019d collaborated with doctors, scientists, physical and speech therapists \u2013 and each other \u2013 for more than a decade. Their support didn\u2019t guarantee a perfect future for my daughter, but their generosity was a profound gift.<\/p>\n 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\u2019s fresh diagnosis, her questions, her fears. I abandoned my own update to type the words that changed the course of my life and Maggie\u2019s childhood: Welcome! You are not alone.<\/p>\n","protected":false},"excerpt":{"rendered":"Right after my daughter, Maggie, was born in 2012, she held her hands clasped together against her chest.…\n","protected":false},"author":2,"featured_media":280624,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[4316],"tags":[105,4348,16,15],"class_list":{"0":"post-280623","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-healthcare","8":"tag-health","9":"tag-healthcare","10":"tag-uk","11":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/114892701838704462","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/280623","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=280623"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/280623\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/280624"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=280623"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=280623"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=280623"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}