MrBallen’s Medical Mysteries - Ep. 83 | The Disappearing Girl

Episode Date: May 6, 2025

When a vivacious preteen girl with Down syndrome suddenly becomes shy and withdrawn, her mother worries her precious daughter is getting depressed. But soon, it becomes clear that something e...lse is wrong. With every passing day, the girl withdraws deeper into her shell. Her mother is determined to figure out what’s wrong before she loses her daughter forever.Be the first to know about Wondery’s newest podcasts, curated recommendations, and more! Sign up now at https://wondery.fm/wonderynewsletterSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

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Starting point is 00:00:00 Wondery Plus subscribers can listen to new episodes of Mr. Bolland's Medical Mysteries early and ad-free right now. Join Wondery Plus in the Wondery app or on Apple podcasts. In 2011, Emma was a vibrant 13-year-old with Down syndrome, water skiing with her sisters on sunny afternoons, laughing with her friends, and excited to start middle school. But just months later, something changed. Emma became withdrawn, unresponsive.
Starting point is 00:00:35 Her bright smile faded, replaced with a vacant stare. She stopped talking, stopped engaging. She wasn't the girl she used to be. The world that once felt full of possibilities now seemed impossibly distant. Alice and Matt here from Wondry's podcast British Scandal. Join us for our latest series, a truly saucy tale of sex, society and scandal. It was the tabloid sensation of the 60s, a wealthy socialite more used to gracing the pages of Tatler, suddenly thrust onto the front pages of the newspapers for all the
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Starting point is 00:01:38 Follow British Scandal now wherever you listen to podcasts and binge entire seasons early and ad free on Wondery Plus. Do you think it's the first time that any Wondery title has said, wind up copper penis? The question is, will it be the last? When Luigi Mangione was arrested for allegedly shooting the CEO of United Healthcare, he didn't just spark outrage, he ignited a cultural firestorm. Is the system working? Or is it time for a reckoning? I'm Jesse Weber. Listen to Law and Crime's Luigi exclusively on Wondery+. From Ballin Studios and Wondery, I'm Mr. Ballen, and this is Mr. Ballen's Medical Mysteries,
Starting point is 00:02:25 where every week we will explore a new baffling mystery originating from the one place we all can't escape, our own bodies. So if you liked today's story, please go in the follow button's kitchen, open up their drawer, and bend a single prong on every one of their forks. of their forks. This episode is called The Disappearing Girl. On a hot day in July of 2011, Dr. Barbara Elliott stood on a lakeside dock in Minnesota behind three of her four teenage daughters.
Starting point is 00:03:03 The girls were all looking out over the water where their fourth sister, 13-year-old Emma, was learning how to water ski. Their father, William, was driving the motorboat, and behind it was Emma getting pulled right along. At some point, Emma stood up on her skis, but only long enough to hit a big wave and go tumbling down beneath the surface again.
Starting point is 00:03:22 But all the sisters cheered when their dad circled back around, and Emma motioned from the water that she wanted to surface again. But all the sisters cheered when their dads circled back around and Emma motioned from the water that she wanted to try again. And this time, once the boat started going, Emma was able to stay upright a lot longer and her older sisters went crazy, jumping and clapping as Emma sailed across the water. Emma's mother Barbara beamed with pride, and not just because Emma had learned to water ski in just a single afternoon, but because she was just very proud of Emma's determination. Emma had Down syndrome, which meant that she was born with an extra copy of chromosome 21.
Starting point is 00:03:54 The extra chromosome affected the way her brain developed, so she was growing up with some mental and physical challenges. And so Barbara, who was a developmental pediatrician, knew full well how much harder learning how to water ski would be for Emma than it would be for her sisters. But Barbara realized very early on that she should never doubt Emma. Emma had always been outgoing and athletic. She loved soccer and swim practice. She took ice skating lessons and karate classes.
Starting point is 00:04:22 She was also a social butterfly and was looking forward to starting middle school in the fall. Basically, whenever Emma set her mind to something, she always thrived. Emma skeed for a few more seconds before losing her grip on the tow rope and splashing back into the water. But a second later, Emma came back up for air and gave her family a big thumbs up. Barbara could see Emma's big smile all the way from the dock. Five months later, in December, Barbara meandered her way through a Christmas tree farm, enjoying the smell of freshly cut pine trees. Her daughters were up ahead, choosing which Christmas tree
Starting point is 00:04:58 they should strap to the roof of the car and bring home. William was next to them, setting up his camera on a tripod. This had become a sort of annual tradition in their family. They would come to this farm to pick out their tree and take a family Christmas photo. In the past, the way this typically went is Emma would run all around the farm until she found the perfect tree, at which point she would loudly announce it to the rest of her family, and then that would be the tree they would choose. But this year, Emma seemed checked out from the whole process. She kept staring off into
Starting point is 00:05:29 space while her sisters tried to get her attention. Her oldest sister, Mallory, kept asking her questions, but Emma just ignored her. And then when she finally answered, her words were slow and labored, like she was talking with peanut butter in her mouth. Barbara wondered if this was just typical teenager stuff. Emma was 13 after all. Her personality was bound to change a little bit. But Barbara still couldn't help but feel worried about her youngest daughter. She wondered if maybe something was going on at school that had her mind occupied. William finally got the camera all set up and then told the girls to smile for a photo. But Emma just stared at the ground.
Starting point is 00:06:06 Barbara called Emma and told her to look up, and she did, but by the time the camera flashed, Emma was staring back at the ground again, lost in her own world. William had to take the picture three more times just to get a shot with Emma looking at the camera. And even then, she wasn't smiling. One morning, a few weeks later, Barbara was in the kitchen pouring herself a bowl of cereal. The rest of her family was already eating around the table. Well, all of them were eating except for Emma, who was just slumped over in her chair, picking
Starting point is 00:06:38 at her food and staring at the half-melted Christmas candles in the center of the table. She'd been quiet all morning, even though Mallory had been asking her questions, like whether she was excited to return to school and see her friends again. And so eventually, Mallory just began asking Emma really basic questions that, frankly, she didn't care about the answers at all, like what day of the week is it and what time is it. But Emma didn't even look up. At this point, Barbara exchanged a worried glance with her husband William and also her
Starting point is 00:07:06 other daughters. Emma had been withdrawn like this for all of winter break. She avoided eye contact and barely spoke to any of them. She hadn't helped them decorate the Christmas tree, and she got moody whenever anybody asked her questions. And even stranger, Emma hadn't wanted to see any of her friends over break. But as Barbara thought back even farther, like over the whole last few months, she realized Emma had been through a very difficult time.
Starting point is 00:07:31 Emma had just started middle school, and she was immediately taken out of general education and put in special education classes for the first time in her life, which could have felt like a demoralizing setback. Maybe she was so upset about what was going on at school that that was having a profound impact on her life. She wasn't sleeping very well, perhaps because she was thinking about this stuff, and perhaps the lack of sleep was making her irritable and not really interested in talking to anyone. But trouble at school didn't really explain why Emma now was just completely ignoring her sister. Barbara knew Emma would never give Mallory the cold shoulder for no reason.
Starting point is 00:08:08 This behavior was radically out of character. Emma adored her big sister. Barbara had worked in pediatric medicine long enough to know that whatever was going on with Emma was not normal, and so she would have to see her doctor. When Barbara and Emma went in to see her pediatrician, he immediately ordered a full medical workup for Emma. He ran all sorts of tests, like an EEG, which measures electrical activity in the brain, also a sleep study, a vision and hearing screen, and full blood work.
Starting point is 00:08:39 But none of these tests showed anything wrong with Emma. But just to make sure they covered all their bases, the pediatrician also ordered an MRI of Emma's brain, which creates a detailed scan of the body using magnetic waves. And the MRI did show a few small abnormalities in her brain, but nothing that would explain the apathy, lack of focus, and intellectual decline Emma seemed to be experiencing. And so after that, the pediatrician said he had no further tests to recommend. Whatever was going on with Emma, it didn't seem like a problem he could fix. Several weeks later, after the winter break was over, Barbara was upstairs helping clean
Starting point is 00:09:19 Emma's room. Emma used to clean it herself, but she wasn't doing her chores anymore. On top of Emma's increasing social isolation, she'd also begun having these frequent crying episodes. But, just as the tears would dry up, she'd burst into fits of laughter. And also, Emma had become hypersensitive to noise and touch. She wouldn't even let her mom brush her hair. She barely slept at all, which Barbara knew was taking a further toll on her mood and
Starting point is 00:09:45 energy levels. Her daughter seemed like a shell of her former self. It was emotionally very painful for Barbara to clean Emma's room these days, dusting the trophies and mementos that lined her shelves. They were all reminders of who Emma used to be, a girl who was thriving. Once Barbara was finished dusting, she picked up Emma's backpack, which was overturned on the floor. And as she lifted it up, a small bundle of papers fell out. She was about to set the papers on Emma's desk, when she realized the papers were actually letters written by Emma to her favorite teachers.
Starting point is 00:10:19 Now, Barbara would never invade her children's privacy if she could help it, but given everything going on with Emma, she gave herself permission to dive into these notes. They were all about Emma's struggles in school. Some of the students in her new special education classes were too aggressive, she wrote. They would throw fits and shout and this really upset her. But the teachers yelled at her too, which upset her even more. She didn't like school anymore and she just wanted to go back to fifth grade. Barbara noticed that all these letters were written back in September and October, about
Starting point is 00:10:50 six months ago, right around the time that Emma first became lethargic and reclusive. Barbara realized that Emma had known all those months ago that something was wrong. She'd written these letters basically asking her teachers for help, but for whatever reason, it appeared like she was either too shy or too overwhelmed to actually deliver them. Reading her daughter's notes was heartbreaking for Barbara, but it was also fairly informative. She began to wonder if maybe she was wrong to think that her daughter's struggles were a medical issue. If Emma was having this much trouble adjusting to her new school,
Starting point is 00:11:25 maybe her condition was actually psychological. In 1976, a Georgia native, Navy veteran, and peanut farmer named Jimmy Carter won his bid for the presidency. What Carter didn't know then was that the next four years would be the most difficult he could ever imagine. Hi, I'm Lindsey Graham, the host of Wondery's podcast, American the presidency. What Carter didn't know then was that the next four years would be the most difficult he could ever imagine. Hi, I'm Lindsey Graham, the host of Wondery's podcast American History Tellers. We take you to the events, times, and people that shaped America and Americans, our values, our struggles, and our dreams. In our latest series, we explore Jimmy Carter's time in the White House, from his unexpected presidential victory as an outsider vowing to clean up
Starting point is 00:12:04 Washington to his remarkable diplomatic breakthroughs and legislative accomplishments on energy, education, and the environment. But Carter also faced crushing challenges as he worked to lead the country through energy shortages, sky-high inflation, and the Iran-hosted crisis. Follow American history tellers on the Wondery app or wherever you get your podcasts. Experience all episodes ad-free and be the first to binge the newest season only on Wondery Plus. the Wondery app or wherever you get your podcasts. Experience all episodes ad free and be the first to binge the newest season only on Wondery Plus. Join Wondery Plus in the Wondery app, Apple podcasts or Spotify. Start your free trial today. In the early hours of December 4th, 2024, CEO Brian Thompson stepped out onto the streets of Midtown Manhattan.
Starting point is 00:12:42 This assailant pulls out a weapon and starts firing at him. We're talking about the CEO of the biggest private health insurance corporation in the world. And the suspect. He has been identified as Luigi Nicholas Mangione. Became one of the most divisive figures in modern criminal history.
Starting point is 00:12:58 I was targeted, premeditated, and meant to sow terror. I'm Jesse Weber, host of Luigi, produced by Law and crime and twist this is more than a true crime investigation we explore a uniquely American moment that could change the country forever. It's a welcome the people to a true issue. I mean maybe this would lead rich and powerful people to
Starting point is 00:13:22 acknowledge the barbaric nature of our healthcare system. Listen to Law and Crime's Luigi exclusively on Wondery Plus. You can join Wondery Plus in the Wondery app, Spotify, or Apple podcasts. Several months later, in the summer of 2012, Barbara sat at the dinner table watching Emma eat. Emma was bent over her plate, shoveling food into her mouth, and swallowing it so quickly she barely had time to chew. Emma had been an eating machine over the past few months, but tonight she was really gorging herself. Even though Barbara was a
Starting point is 00:13:56 pediatrician herself, she could not explain why her daughter's behavior had changed this much. After Barbara had found Emma's letters, she and her husband had taken Emma to every therapist and psychiatrist they could find. And one psychiatrist who specialized in children with disabilities diagnosed Emma with post-traumatic stress disorder, or PTSD, due to the difficult transition from elementary school to middle school. She'd prescribed Emma antidepressants, and at first, they appeared to work. But then she complained that the medication made her feel dizzy, and so they stopped it. And unfortunately,
Starting point is 00:14:30 the next medication they tried made her insomnia worse, and the next one after that gave her stomach pain. The only drug that Emma could tolerate was memantine, a medication used to treat memory loss in dementia patients. And in reality, it only helped a little bit. Nothing was able to bring Emma back to her old self. Barbara was frustrated that after consulting with so many doctors and therapists, that no one could find a treatment that worked for Emma, or could even diagnose exactly what was wrong. She was beginning to realize that if she and her family were going to get Emma back, she was going to have to find answers herself.
Starting point is 00:15:10 Almost a year later in 2013, Barbara stood in front of a big lecture hall clicking through slides on a projector. She was a speaker at a conference of Down syndrome researchers, and she was presenting her daughter's case to the community. She fought to keep a neutral face when she played videos of her daughter water-skiing and enjoying time with her friends and family the way she'd been just a few years ago. But as painful as that was, Barbara pressed on, explaining all the details of Emma's
Starting point is 00:15:34 startling regression. And as she presented her daughter's case, she couldn't help but notice a few audience members wiping tears from their eyes. A couple days later, Barbara received an email from a woman who was a member of the And as she presented her daughter's case, she couldn't help but notice a few audience members wiping tears from their eyes. A couple days later, Barbara received an email from a woman who had seen her presentation. The woman's name was Lucy Duncan, and like Barbara, Lucy was searching for answers. When Lucy's daughter Sierra was 20 years old, she went through a very similar regression to Emma.
Starting point is 00:16:03 Lucy had tried many treatments for her daughter, but all of them were unsuccessful. Lucy had found a medical researcher who'd taken some interest in Sierra's case, but so far nothing had come from that either. Barbara thought Lucy sounded just like her. They were both mothers desperate to bring their daughters back. But also, as Barbara read this email, something else clicked. There were other people out there with Down syndrome who were also suffering from this mysterious steady decline. And so Barbara wrote back to Lucy and promised they would stay in touch.
Starting point is 00:16:35 They'd compare notes in the coming months and hopefully figure out what was causing their daughters to regress. dress. Or, better yet, find a treatment plan that actually helped their kids. More than a year later, Barbara was sitting inside of a doctor's office, watching as a nurse used what looked like two robot arms to touch Emma's head. These arms were giant magnets that stimulate nerve cells in the brain to try to relieve symptoms of major depression. Recently, Barbara had taken Emma to a new psychiatrist who diagnosed her with catatonia, a disorder that interrupts normal brain function.
Starting point is 00:17:14 People with catatonia struggle to communicate and lose their motor skills. This psychiatrist had recommended a four-week course of this cranial nerve stimulation in hopes it would improve Emma's mood and help her engage with her friends and family again. Thankfully, this sort of bizarre treatment did not seem to bother Emma, who was now 16 years old. She was watching Taylor Swift videos on her phone, seemingly unaware that the nurse was pulling a strap across her head and getting ready to turn on these robot arms. The nurse flipped on the machine and a metallic clicking sound filled the room. Barbara winced, but Emma seemed absolutely fine.
Starting point is 00:17:51 So Barbara stopped worrying and leaned back in her chair. On the way home, Barbara didn't notice much of a change in Emma. But one night, after a few weeks of treatment, Barbara went upstairs to get ready for bed. She passed Emma's room, expecting to see the desk lamp on and Emma sitting at her desk watching YouTube, but instead the room was dark. Curious, Barbara poked her head in, and to her shock, Emma was in bed, sound asleep, not staring at the ceiling, racked with insomnia, not pacing or zoning out or acting moody, just peacefully sleeping. Barbara felt an overwhelming sense of joy. Now Emma might not be able to communicate with the
Starting point is 00:18:32 outside world just yet, but Barbara hoped this was a sign that maybe she was feeling more peaceful inside. It was a small glimpse of who Emma used to be, and Barbara hoped that it meant the nerve stimulation treatments were working and that the old Emma was on her way back. Two years later, in 2016, Barbara sat down in the living room and opened up her laptop. Emma was 18 years old now, and they were still searching for a comprehensive treatment plan. Nerve stimulation had helped Emma, but she was by no means back to her normal self. She was still very withdrawn any time they were out in public, and she suffered from severe obsessive-compulsive disorder. Obsessive-compulsive disorder, or OCD, is a condition where people have unwanted thoughts
Starting point is 00:19:21 and feel the need to do certain actions to ease their anxiety about them. They can interfere with their daily life. But as always, her mom, Barbara, had a plan. A few days earlier, Barbara had spoken with Lucy, the woman who contacted her after her presentation at the Down Syndrome Conference. Lucy's daughter, Sierra, was also still struggling, and so they wanted to see if there were any other parents of Down Syndrome children out there who had watched their kids regress and their personalities disappear.
Starting point is 00:19:50 So they had started a Facebook support group. And now Barbara clicked on that group's page and she was immediately overwhelmed. It had been up for only a few days, but already dozens of parents had joined, posting stories of their once thrivingthriving children. And each post had a similar ending. Their kids suddenly regressed and became a shell of who they used to be without any explanation. Barbara couldn't believe how many stories like hers were pouring in. She called Lucy, and the two of them stayed on the phone, scrolling through the messages together. Parents asking for help, swapping tips and treatments, and sharing information about
Starting point is 00:20:27 physicians who managed to help their kids in some way. Barbara loved the feeling of not being alone as she read through these posts. But she also realized something. Everyone seemed to have tips for mild improvement, but nobody had met any physician who would actually crack the code and figured out what actually caused this regression in the first place. And so all these Facebook posts forced Barbara to confront a potentially heartbreaking reality. None of these kids and young adults were getting any better.
Starting point is 00:20:59 It seemed like Emma's future was going to be about just adjusting to this new normal, not about regaining what she had lost. But Barbara could not accept that. As a contractor for the NSA, Edward Snowden had access to a range of top-secret government programs. But as he learned more about these clandestine operations, he came to understand a devastating secret. The government was conducting mass surveillance on its own citizens. Hi, I'm Lindsey Graham, the host of Wondery Show American Scandal. We bring to life some of the biggest controversies in U.S. history. Presidential lies, environmental disasters, corporate fraud.
Starting point is 00:21:40 In our latest series, whistleblower Edward Snowden changes the national conversation about privacy on the internet as he risks his own freedom and his family's well-being. Follow American Scandal on the Wondery app or wherever you get your podcasts. Listen to all episodes ad-free and be the first to binge the newest season only on Wondery Plus. You can join Wondery Plus in the Wondery app, Apple Podcasts or Spotify. Start your free trial today. Hey, I'm Mike Corey, the host of Wondery's podcast Against the Odds. In each episode, we take you to the edge of some of the most incredible adventure
Starting point is 00:22:12 and survival stories in history. In our next season, it's 1980. And in the Pacific Northwest, the long dormant volcano Mount St. Helens is showing signs of life. Scientists warn that a big eruption is coming, but a restricted zone around the mountain is limited by politics. On May 18th, hikers, loggers, reporters, and researchers are caught in the blast zone as the volcano erupts. They find themselves pummeled by a deadly combination of scorching heat, smothering ash, and massive mudslides. The survivors
Starting point is 00:22:45 have to find their way to safety before they succumb to their injuries or face another eruption. Follow against the odds on the Wondery app or wherever you get your podcasts. Binge the entire season ad-free right now only on Wondery Plus. Start your free trial in the Wondery app, Apple Podcasts, or Spotify today. Several years later, in April of 2020, a pediatrician named Dr. Christopher DeSantis sat in his Los Angeles office. Dr. DeSantis was the director of neuroimmunology at one of the largest pediatric medical centers in the country. And on this day, he was looking over the results of a spinal tap, a test he had run on one of his patients, a teenager with Down syndrome named Jackson.
Starting point is 00:23:31 One year earlier, Jackson had become quiet and insular and basically stopped interacting with the world around him. And so Dr. DeSantis was trying his best to figure out what was wrong with Jackson. But this was proving to be very difficult to do because it was the COVID pandemic and basically the whole world was shut down. The hospital required so much protective equipment and social distancing measures that it was very hard to schedule in-person appointments at all, let alone order lab work
Starting point is 00:23:58 or other procedures to figure out what was going on. At least here, alone in his office, Dr. DeSantis could just focus on his patients and retain some feeling of normalcy. As he looked over the spinal tap test results, he realized there could be hope that he was close to figuring out the cause behind Jackson's change in behavior. The results suggested that there was inflammation in Jackson's brain, which is usually caused by some type of infection. But it can also happen when the patient's own immune system mistakenly attacks healthy tissue that it thinks is an infection, which is known as an autoimmune disorder. And people with Down syndrome have a much higher rate of common autoimmune disorders,
Starting point is 00:24:38 such as thyroid disorders, celiac disease, and skin conditions. So, to Dr. DeSantis, it actually made perfect sense that maybe Jackson's regression could be caused by an autoimmune disorder. The doctor wondered if there was a way to reset Jackson's immune system so that the inflammation in his brain might decrease. So he decided to try a standard treatment for immune disorders called intravenous immune globulin, which gradually purifies the immune system.
Starting point is 00:25:06 If it worked, Jackson just might be able to reconnect with the world around him, instead of living inside of this isolating fog. Two weeks later, Dr. DeSantis was back in his office catching up on work when he heard a commotion in the hallway, a mix of cheering and applause and stamping feet. Confused, he opened his door to see what was going on and immediately felt a pair of arms wrap around his waist. He looked down to see his patient, Jackson, locking him in a bear hug. Then Jackson pulled back, smiling and laughing and telling him he felt better.
Starting point is 00:25:42 Dr. DeSantis couldn't believe it. This was a completely different kid from the near catatonic teenager that checked into the hospital a month ago. The immune globulin treatment, in combination with a few other treatments, had brought Jackson back to life, so to speak. In fact, it was so successful that right away Dr. DeSantis wondered if maybe other patients with Down syndrome could benefit from this treatment. And sure enough, a few months later, when Dr. DeSantis was surfing Facebook,
Starting point is 00:26:11 he stumbled upon a support group for families with Down syndrome children who had regressed. Dr. DeSantis immediately reached out to the group and asked if he could post about his own research. asked if he could post about his own research. Lucy Duncan was excited and told Dr. DeSantis to please post it. By this point, the Facebook group that she had set up with Barbara had hundreds of members who were eager for more and new information. And so the moment Dr. DeSantis began posting about his experimental treatment that had presumably cured his patient Jackson, responses on this page poured in. Not long after that, Lucy flew with her daughter, Ciara, out to Los Angeles to meet with Dr. DeSantis. He administered the same course of
Starting point is 00:26:55 treatment for Ciara as he had for Jackson, and right away, Ciara did show signs of improvement. But then her progress just stopped. She didn't have the same dramatic turnaround that Jackson experienced. Dr. DeSantis suggested that, maybe because Sierra had been in regression much longer than Jackson, that that was why the treatment was not as effective. Lucy was bitterly disappointed, but then she remembered another researcher who had once taken an interest in Sierra's case. His name was Dr. Antonio Rivera. Now, he didn't have any answers at the time for what was going on with her daughter, but he had told her that he was going to continue his research.
Starting point is 00:27:34 Lucy thought that maybe Dr. Rivera should know about Dr. DeSantis' research. So she pulled out her phone and sent an email to both doctors, introducing them. She hoped that, just maybe, they might find a way to help patients like her phone and sent an email to both doctors, introducing them. She hoped that, just maybe, they might find a way to help patients like her daughter and the hundreds of other people in their Facebook group, whose children had been in regression for five or even ten years. Following Lucy's introduction, Dr. DeSantis reached out to Dr. Rivera, and he was delighted to learn that Dr. Rivera had continued his Down syndrome research. Dr. Rivera suspected that this regression was caused by the extra chromosome 21 that
Starting point is 00:28:15 people with Down syndrome are born with. He believed the extra chromosome caused them to generate an overly powerful immune system that can sometimes turn on the body itself, making people sick instead of protecting them from disease. This would explain the inflammation Dr. DeSantis had discovered in the brain of his other patient, Jackson. Dr. Rivera suspected that medical researchers had not noticed this autoimmune disorder until now,
Starting point is 00:28:41 at least in part because of the history of bias in the medical field about people with Down syndrome. And Dr. DeSantis agreed. If a typical teenager suddenly became a lethargic and moody loner, their doctors would treat it like a major issue. But Dr. DeSantis and Rivera both suspected that doctors generally paid less attention to antisocial behavior in people with Down syndrome because they already had an intellectual disability. Dr. DeSantis was thrilled to meet a doctor whose research aligned so closely with his own. The two of them decided to work together to bring attention and resources to this autoimmune disease. In 2022, Dr. DeSantis took the lead on a paper
Starting point is 00:29:23 that named the condition Down Syndrome Regression Disorder. In the paper, he explained that it affects between 1 and 5% of those with Down syndrome. In June of 2023, Emma finally received an official diagnosis after 12 years of progressing. In October of that year, she began immune globulin treatment. At that point, Emma was 25 years old, and her recovery was not as dramatic as some of Dr. DeSantis' younger patients. But the treatment still did make a significant improvement in her quality of life.
Starting point is 00:30:00 She was now able to at least smile and joke around again. Recently, Emma graduated from a local university transition program for people with disabilities. She's making friends again, performing in community theater, and water skiing. Something she hadn't been able to do for 10 years. Follow Mr. Bolland's Medical Mysteries on the Wondry app, Amazon Music, or wherever you get your podcasts. You can listen to new episodes of Mr. Bolland's Medical Mysteries, early and ad-free, right now, by joining Wondry Plus in the Wondry app, Apple Podcasts, or Spotify, or by listening
Starting point is 00:30:37 on Amazon Music with your Prime membership. Before you go, tell us about yourself by completing a short survey at Wondry.com slash survey. From Ballen Studios and Wondry, this is Mr. Ballen's Medical Mysteries, hosted by me, Mr. Ballen. A quick note about our stories. They're all inspired by true events, but we sometimes use pseudonyms to protect the people involved, and some details are fictionalized for dramatic purposes. And a reminder, the content in this episode is not intended to be a substitute for professional medical advice, diagnosis, or treatment. This episode was written by Aaron Lann.
Starting point is 00:31:12 Our editor is Heather Dundas. Sound design is by Ryan Patesta. Our senior managing producer is Callum Pluse. And our coordinating producer is Sarah Mathis. Our senior producer is Alex Benedon. Our associate producers and researchers are Sarah Vytak and Tasia Palaconda. Fact checking was done by Sheila Patterson. For Ballen Studios, our head of production is Zach Levitt.
Starting point is 00:31:32 Script editing by Scott Allen and Evan Allen. Our coordinating producer is Samantha Collins. Production support by Avery Siegel. Executive producers are myself, Mr. Ballen, and Nick Witters. For Wondry, our head of sound is Marcelino Villapondo. Senior producers are Laura Donna Palavota and Dave Schillek. Senior managing producer is Ryan Lohr, and our executive producers are Aaron O'Flaherty
Starting point is 00:31:54 and Marshall Lewy. Hey, I'm Cassie DePeckel, the host of Wondery's podcast Against the Odds. In each episode, we share thrilling true stories of survival, putting you in the shoes of the people who live to tell the tale. In our next season, it's February 14, 1979. Elmo Wortman and his three children are stranded on a remote Alaskan island after a massive storm destroys their sailboat. Miles from help, they have to face the brutal cold with barely any food, only a sail for shelter,
Starting point is 00:32:32 and a leaky plastic dinghy. Desperate to survive, they build a raft and try to reach safety. But as starvation and frostbite take hold, and days stretch into weeks, their endurance is pushed to the limit. Follow Against the Odds wherever you get your podcasts. You can listen ad-free

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