Ep. 87 | 99th Percentile
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In the fall of 2014, a new mother in Texas was trying hard to concentrate on fastening the buckles of her six-month-old daughter's car seat. But her mind was still very much focused on the doctor's appointment they had just left. It was supposed to have been a fairly routine checkup to examine her baby's eyes, more as a precaution than anything else. But the appointment did not turn out the way she expected. After finally securing her baby into her car seat, the mother's hands wouldn't stop trembling as she pulled out her phone to call her husband.

When he picked up, he lightheartedly asked her how the appointment went. Did their baby girl want glasses or contacts? Sort of making a joke. But she cut him off, remembering how the doctor had looked at her when he gave her the terrible news. She told her husband the time for jokes was now over. She said their daughter didn't just have bad eyesight. She had a serious condition. A condition that could kill her before her first birthday.

From Ballin Studios and Wondery, I'm Mr. Ballin, and this is Mr. Ballin's Medical Mysteries, 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 like today's story, please offer to make the follow button some popcorn. But after you place the bag in the microwave, set the timer for an hour and then just walk away.

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Your next great adventure awaits on Audible. Start listening today when you sign up for a free 30-day trial at audible.com slash fallen. This episode is called 99th Percentile. In early 2014, June Myers settled back on the exam table, adjusting the paper gown around her increasingly round belly.

June was 26 weeks pregnant, and because she was 43 years old, her pregnancy was considered high risk for both the mother and her unborn child. She and her husband Philip had gone through a few unsuccessful pregnancies, but even though everything seemed to be going alright with this one, June was still nervous.

The doctor told her it was just a matter of numbers. Any woman 35 years or older has an increased risk of miscarriage, genetic disorders, and pregnancy complications such as premature delivery. So June had diligently attended regular appointments with her medical team to make sure she and the baby were okay. Thankfully, so far the only problem June had experienced was high blood sugar, and that was something she could manage with medication.

She prayed that her luck would hold and that today would be just another routine checkup and another chance to peek at their baby, a little girl. As the ultrasound technician squeezed some cold gel onto June's belly, she felt goosebumps break out on her arms. Philip took her hand and squeezed it and then nodded his head towards the computer screen.

There was their baby, her tiny features displayed in black and white while they listened to her rapid, echoey heartbeat on the monitor. The sight of this made June forget all about feeling cold as she focused on her perfect daughter. But then June noticed the technician was frowning. The technician adjusted the ultrasound wand on June's abdomen to get a better look and then tapped out a few keystrokes on the computer next to her. Then she stood up and excused herself, telling June and Philip she needed to check something with the doctor.

While they waited, June could not help but feel totally anxious, thinking something was wrong. And then a minute later, when the doctor walked through the door, June just blurted out, "What is it? What's wrong?" The doctor pulled up one of the ultrasound images on the screen, showing the baby's head. Then the doctor traced her finger along a thick white line that ran straight down the middle of their baby's brain. Typically, she explained, when a fetus is developing in the womb, there is a small bubble in the middle of this line.

Doctors look for this bubble because it's considered a general indicator of normal brain development. June searched the long unbroken line that her doctor was pointing to, feeling dazed. She couldn't see a bubble. The doctor continued in a measured tone. This scan could be nothing, but it could also indicate an abnormality in their baby's brain development. However, the doctor said there was only so much they could see on an ultrasound. She needed to run a fetal MRI scan for a complete detailed picture of their child's brain.

they could do the test as soon as the next day june nodded weakly as philip put an arm around her the doctor hit a few more keystrokes and the computer spit out the small rectangular ultrasound picture of their baby in profile she handed the pictures to june with a reassuring smile she told june it was all just a precaution and not to worry until they had all the information june smiled back and nodded but in her head she was not feeling so sure

The following day, June lay back on a patient table in another cold medical room. A technician's voice squawked through the speaker. They were ready to begin. June heard a mechanical whirring as the table she was lying on gradually slid her inside a giant MRI machine. The voice came on again and reminded her to lay as still as possible so they could get a clear image.

But June's heart was pounding, shaking her entire chest. She was so worried about her child. The voice came on again and reassured her that plenty of people feel uncomfortable being enclosed in the machine. But if she could just stay calm, focus on slow, steady breaths, they'd get her out as soon as they could.

Then, the MRI was suddenly alive with sound, a series of insistent metallic buzzing and heavy rhythmic thunks. But June's anxiety had nothing to do with the claustrophobia, or even the test itself, really. She wanted to have this MRI, she was just terrified of the results. The next 30 minutes would likely dictate her baby's future. But in between the waves of dread, June felt a small kick coming from inside her belly, and then another, just a bit harder.

She had no idea what was going on in there, but June knew that her daughter was sending her a message. Until a definitive test said otherwise, June was going to assume that her baby was happy and healthy. June took a deep breath, then slowly exhaled, staying focused on that little foot kicking her from the inside. Two days after the MRI, June and her husband Philip sat in the doctor's office waiting for the image results.

June was a nervous wreck. Despite her best efforts to stay calm, she hadn't been able to think about anything other than what those images might show her. Just then, there was a soft knock at the door and the doctor entered.

June immediately scanned the doctor's face to see if maybe she was upset or worried, but the doctor was all smiles. Once she sat down, she told June and Philip that everything looked great. The MRI images showed that the baby's brain was developing normally. If the missing bubble was a real problem, it would have affected other parts of the brain, but that wasn't the case. June's doctor promised they would keep a close eye on the baby for the rest of the pregnancy, but for now, there was nothing to worry about.

June and Philip were so relieved. Ten weeks later, June gave birth via C-section to a beautiful baby girl. Lucy weighed 6 pounds 11 ounces and measured 19.4 inches long. She had hazel eyes and a full head of light brown hair. June and Philip felt an instant sense of calm come over them now that all those pregnancy worries were behind them. Lucy was just fine. However, when the hospital's pediatrician stopped by June's hospital room to check in, he brought a new puzzling update.

Lucy's head was unusually large for a baby her size and weight. This is called macrocephaly, and it applies to any baby whose head size is in the 97th percentile or higher. Now, Lucy didn't look at all abnormal, but her head circumference was just over 14 inches, making it bigger than 99% of other newborn girls. June immediately felt the familiar creep of anxiety prickling her neck.

But the doctor explained that until they knew the cause, Lucy's larger-than-normal head was just an unusual measurement. Sometimes it's completely benign. Babies can inherit a big head, just like they inherit other physical traits, like eye color. However, to rule out something more severe, like a tumor or a brain bleed, the doctor needed to perform an ultrasound to examine Lucy's brain.

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The following morning, June held her breath as a nurse wheeled the bassinet out of the room, taking Lucy to her imaging appointment. Philip slept in a chair in the corner. He and June had both been up all night with the baby, and he'd finally just given in to the exhaustion. But June felt wide awake. An hour crawled by before the nurse finally returned, and she'd hardly parked the wheels on the bassinet before June had scooped Lucy up in her arms. Philip stirred awake at the two women talking and joined them at June's bedside.

A few minutes later, there was a knock at the door and the obstetrician poked his head in the room and he was smiling. He gave the chart another quick glance and confirmed that the ultrasound ruled out any abnormalities. Lucy's macrocephaly was benign, which meant somewhere in Philip and June's gene pool there was a relative with a large head circumference, a trait that had clearly been passed down to their daughter. The doctor would monitor it over the next few months, but otherwise they could all go home tomorrow with a clean bill of health.

Six months later, June held Lucy on her lap in another doctor's office while an ophthalmologist, or eye doctor, performed an exam on Lucy. Lucy squirmed away from the bright light shining in her face, and she cried in irritation. June apologized to the doctor, soothing Lucy and settling her down. But the doctor reassured her that this reaction was actually a good thing. Next, the doctor pulled out a plastic toy duck and showed it to Lucy, holding it up in front of her face.

He gave it a quick squeeze, making it quack, which immediately caught the baby's attention. And as the baby stared intently at the toy, the doctor slowly moved the duck to the right and then over to the left, to the very outside edges of Lucy's field of vision. And as he did this, his brow furrowed, confirming June's suspicion that something was wrong. Over the last few months, June had noticed that Lucy was not making direct eye contact anymore.

Instead of responding to her mother's voice or watching whatever she was doing, Lucy always seemed to look down, even when her mother knew she'd gotten her baby's attention. It felt to June like Lucy wanted to look at her, but somehow couldn't.

Even more concerning, sometimes Lucy's eyes pointed in different directions. One eye could be looking directly ahead, clearly focused on something, while the other sort of drifted off to the side. And that's exactly what happened when the doctor passed the toy duck back and forth in front of Lucy's face. Only one of her eyes followed the movement, while the other started looking toward the side.

The doctor told June that this kind of eye misalignment, known as strabismus, can happen for a variety of reasons, ranging from no big deal issues to severe problems. The doctor explained that depending on what was causing her eyes to misalign, they might be able to correct Lucy's vision with simple things like giving her glasses or by having her wear an eye patch for a while. Perhaps her eye muscles were simply weaker on one side and just needed a little extra training to do their job properly.

But first, in order to rule out the more severe causes behind this, the doctor needed to dilate Lucy's pupils and check the interior structures with a lighted magnified lens. June held her daughter tightly across her chest, keeping her baby's chubby, squirmy arms out of the way, while the doctor quickly swooped in with medicated eyedrops. Lucy frowned at the sensation, not quite sure yet if she wanted to cry. Before she could decide, the doctor deftly distracted her with a few quacks from the toy duck.

Once the eyedrops had taken effect and Lucy's pupils were now wide open and huge, June held her daughter in place on her lap in the now dimly lit room and the doctor adjusted the light dial on his scope, cooing at Lucy to get her attention. However, when the doctor pointed the light toward one of Lucy's eyes, he suddenly became very serious. He stayed quiet as he checked the other eye too.

Then he went back to the first, looking even longer this time, shining the light through a tinted, magnifying lens that he held right in front of Lucy's face. Then the doctor sat back in his chair. June couldn't read his face in the dim light, but he hadn't said anything in almost five minutes, and so instinctively, she asked him what was wrong. The doctor flipped the overhead lights back on and looked at June with an unmistakable gravity.

Lucy's strabismus was not caused by weak muscles. Instead, it was a symptom of a much more serious and dangerous condition. A few days later, June and Philip sat at a conference table in one of the hospital's meeting rooms. They were flanked by a team of medical specialists who were reviewing their findings on Lucy's condition. June dutifully wrote down all their disturbing updates on a yellow legal pad, keeping the record at least gave her something to do with her hands.

During the eye exam, the ophthalmologist could see that Lucy had significant swelling at the back of both her eyes where they connect with the main nerve that leads to the brain. This condition, known as papilledema, was a serious warning sign since it often means that there is too much pressure inside the skull. That ophthalmologist had recommended that Lucy undergo a series of scans, including an MRI and a CT, to look for a reason for this increased pressure.

Now, another doctor called up the results of those scans on his computer and he projected an enormous image of Lucy's eye up on a monitor. He explained to June and Philip that these images showed that Lucy had too much cerebrospinal fluid in her brain, a condition called hydrocephalus.

The doctor admitted to the parents that what they had been told before about Lucy's head was wrong. She did not inherit a big head from a distant relative. The pressure from the extra fluid had made her head grow larger than normal, and unfortunately, the pressure affected more than just Lucy's head size. The fluid in her skull was slowly crushing Lucy's brain. Left untreated, this increased intracranial pressure could lead to strokes, seizures, and brain damage in the coming years.

If enough pressure built up, it could be fatal. The doctors wanted to place a tube, known as a shunt, in Lucy's skull that would allow the excess fluid to drain, relieving the pressure inside of her skull.

Once that happened, her head would likely get smaller and her risk of brain damage would plummet. In addition, relieving the pressure in her skull would also resolve her eye problems. The doctor told June that inserting this shunt was a short and simple operation. But still, June hated the thought of making Lucy undergo brain surgery. However, she didn't see any other options. She couldn't bear the thought of losing her only child. And so she and Philip asked the doctors to schedule this procedure as soon as possible.

Five months later, in the spring of 2015, June was sitting at her desk, deep in research mode. She scanned through her notes until she found the exact terminology she was looking for, and then she entered it into the search bar on her internet browser and clicked. June had begun taking notes on her daughter's condition out of necessity. It was a way to capture and later translate all the complicated medical terminology she was hearing. But now, her record keeping on her daughter felt like her duty as the child's mother.

She looked over from her laptop to Lucy, who was now 11 months old. Lucy was on her activity mat, which was decorated with brightly colored ribbons and sensory squares. There were also a few plush toys scattered within the baby's reach. But Lucy just sat there in the middle, her head drooping like it was too heavy for her to hold it up.

The shunt procedure had worked, and just like the doctor hoped, Lucy's head had gotten smaller and her eyes were no longer misaligned. But now Lucy had a new problem. She was falling behind other kids her age and reaching key milestones. She should have been trying to take her first steps and pulling herself up to stand. Instead, she was still barely able to crawl. Most children her age were able to say a few simple words like mama and dada, and they imitate the way people talk, even if it comes out as babble.

June could tell her daughter did understand a lot of what June said to her, but so far her daughter had not made any attempts to talk back. June closed her computer and got down on the floor next to her daughter. And as soon as she did, she noticed that against the light-colored blanket, there was something odd on Lucy's legs that stood out. She had these thin, dark lines running from her knees to her ankle. June thought to herself, have these been here for a while or are these new?

She examined the lines, running her finger over them. They didn't seem raised or painful, they were just a slightly different color than her skin so they stood out. But she made a mental note to ask the pediatrician about them. Then June picked up one of the plushies and danced it across the mat and up one of Lucy's chubby legs. The child smiled, but Lucy didn't try to grab the toy. To June's surprise, her daughter's head lolled further to the side until eventually she started to tip over, unable to support herself.

June grabbed her baby before she fell over and hit her head. As she pulled Lucy tightly into her chest, she thought to herself, enough was enough. Clearly, something was wrong, and she didn't care how many doctors she needed to see. June knew she could no longer stand by as her daughter clearly receded further and further from the world.

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Finally, maybe this would lead rich and powerful people to acknowledge the barbaric nature of our healthcare system. Listen to Law and Crime's Luigi exclusively on Wondery+. You can join Wondery in the Wondery app, Spotify, or Apple Podcasts. Two months later, June checked in with the front desk at a pediatric neurology clinic. Lucy was now 13 months old, and she was scheduled for an electroencephalogram, or EEG, to measure her brain activity.

If there was something malfunctioning in Lucy's brain, the EEG should be able to locate what area was affected and how severely. June held her daughter in her lap and tried to distract her as a nurse attached almost two dozen electrodes to her daughter's scalp with a gritty sticky paste. By the end, with all these wires coming off her head, Lucy looked like something out of a horror movie.

The nurse placed a mesh cap over the jumble of wires on Lucy's head to keep her from pulling them off during the test or otherwise disrupting the connection. Each electrode measured a specific region of Lucy's brain, responding to the electrical activity of her neurons. Hoping to keep her daughter still, June let Lucy rest against her chest and told her a story, making it up on the spot.

Once everything was hooked up, June watched the monitor that transmitted Lucy's brainwaves. She hoped that somewhere in those lines there was an answer to her daughter's problems. The next day, June got a phone call from the neurologist with the test results. "Everything looked fine," he said. "Lucy's brain seemed to be completely healthy and functional."

June was relieved. She was terrified that her child was secretly suffering brain damage. But at the same time, she still didn't understand why Lucy was not developing like other kids her age if her brain really was okay. There had to be an answer, and June was determined to find it.

A year and a half later, in late 2016, June sat inside the neurologist's office trying to hold back her disappointment. She forced herself to remain focused and keep taking notes as the doctor explained Lucy's latest results.

It was only the latest in a long series of tests, as Lucy's doctor had tried to gather as much information about Lucy as possible. She'd taken x-rays of every bone in Lucy's body, hoping to find some physical abnormalities, like a protruding forehead or low muscle tone, that could be a symptom of a bone disease. But there was nothing out of the ordinary on the x-rays.

The doctor had also run a nutritional study, a hearing test, and a fresh round of MRIs and ultrasounds. She had also tested Lucy for a wide variety of genetic conditions, running panels on her blood and skin. And when all those came back negative, she had Lucy's DNA mapped and sequenced. But each time, the doctor got the same result. Everything was basically normal, and today's visit was no different.

June looked over at her daughter, still strapped into her stroller. Lucy was now three years old, and yet she still could not walk or talk. She lagged behind kids her age in everything from social skills to coordination.

June closed her notebook feeling crestfallen. This was the end of the road. After so many months and countless tests, it didn't seem like there were any options left. But June was surprised to learn that the doctor actually had one more card to play here. She was going to refer Lucy to the Undiagnosed Diseases Network, a group that specialized in treating seemingly impossible conditions like Lucy's. If anyone could find the answer, it was them.

In May of 2018, Dr. Linda Chen sat behind her desk trying to wolf down some lunch while reviewing the case file for her latest patient, Lucy. Dr. Chen was an investigator for the Undiagnosed Diseases Network. She studied the long list of diagnostic tests that have been performed so far, and they had all come back apparently normal. But obviously there was something else going on here. But taking on a challenging case like Lucy's was what Dr. Chen did best.

Just then, a nurse buzzed through the intercom. Lucy and her mother were waiting in an exam room. Dr. Chen took a final bite, gathered up the chart, and headed out to greet her patient. She knocked lightly on the exam room door, then stepped inside and introduced herself. Dr. Chen immediately noticed the thick ledger of personal notes sitting on the chair next to June. She realized this mother's research was three times the size of Lucy's official chart. Dr. Chen asked June to place Lucy on the patient table so she could begin her examination.

After she had, Dr. Chen got a good look at Lucy. Lucy was small for her age, and her arms and legs were thin, lacking muscle tone. Dr. Chen lifted up one of Lucy's arms, and immediately she noticed something. There were these straight lines running down her arm. They were faint, but distinct. Dr. Chen noticed that Lucy also had these same lines on her legs as well.

Dr. Chen looked at Lucy's back where she found another series of these lines that branched upward. They were all V-shaped, each perfectly centered at the middle of her spine. The way the bands of color repeated along her back, they almost looked like tiger stripes. Dr. Chen walked away from Lucy and grabbed her chart and began reading over the notes. As she was doing this, June asked her, you know, what do these stripes mean? June said the neurologist had told her that these lines were normal.

Dr. Chen disagreed. She said these tiger stripes were actually an invaluable clue and could be the key to finally providing answers to the family. She said she just needed to run one more test. Dr. Chen carefully took a sample of skin from one of the lines on Lucy's back and then sent it off to the lab to see if her hunch was right. And it would turn out it was. Finally, after four years of searching for answers, June and her husband Philip finally knew what was wrong with their little girl.

Lucy had a genetic condition so rare that there were fewer than 100 documented cases worldwide. This condition, called Smith-Kingsmore syndrome, is caused by a mutation in the gene that controls how cells grow during development. In Lucy's case, the gene, known as the mTOR gene, was not shutting off properly, which caused certain cells to keep multiplying when they should have stopped.

Dr. Chen suspected that Lucy had this genetic condition when she noticed the tiger stripes on Lucy's back, called Blaschko's lines.

Every fetus has Blaschko's lines, but they are usually almost invisible. Blaschko's lines become clearly visible only if there is a genetic mutation that causes an excess of skin pigmentation to be produced while the baby is developing in the womb. And that's exactly what happened to Lucy. And since the brain forms at the same time as the skin, it's likely that the mutation that caused the baby's stripes also affected the brain as well.

Once Lucy's genetic disease was finally pinpointed, Dr. Chen was able to start treating her with a drug that specifically blocks the mTOR gene from generating excess cells. Following this treatment, Lucy started to thrive almost immediately, learning how to walk and talk, and finally catching up on her developmental skills. However, the medication was not a cure for all of Lucy's developmental delays, and so treatment is still an ongoing process.

Follow Mr. Ballin's Medical Mysteries on the Wondery app, Amazon Music, or wherever you get your podcasts. You can listen to new episodes of Mr. Ballin's Medical Mysteries early and ad-free right now by joining Wondery Plus in the Wondery app, Apple Podcasts, or Spotify, or by listening on Amazon Music with your Prime membership. Before you go, tell us about yourself by completing a short survey at wondery.com slash survey.

From Ballin Studios and Wondery, this is Mr. Ballin's Medical Mysteries, hosted by me, Mr. Ballin. 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 Abigail Cannon. Our editor is Heather Dundas. Sound design is by Andre Pluse. Our senior managing producer is Callum Pluse. And our coordinating producer is Sarah Mathis. Our senior producer is Alex Benidon. Our associate producers and researchers are Sarah Vytak and Tasia Palaconda. Fact-checking was done by Sheila Patterson.

For Wondery, our head of sound is Marcelino Villapando. Senior producers are Laura Donna Pallavoda and Dave Schilling. Senior managing producer is Ryan Lohr. And our executive producers are Aaron O'Flaherty and Marshall Louis. For Wondery. For Wondery.

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