Happy Scribe Logo

Transcript

Proofread by 0 readers
Proofread
[00:00:00]

Hey, podcast listeners are here with a quick message before the show starts a couple of weeks ago here on our show, we aired a story from the brand new podcast made by one of our producers, Chana Joffe, Walt and our colleagues at Sirio. That podcast is called Nice White Parents. And I'm coming on here right now to tell you that all five episodes of that podcast are out there in the world. They're ready for your binge listening. You can hear the entire thing now.

[00:00:24]

It takes you inside of a school in this way that I really do not think anybody's ever done. Just an incredible story that spans 60 years inside one school building in Brooklyn.

[00:00:34]

Hannah, who reported this. If you're a regular listener, you know, she's done some of the most memorable stories we've ever put onto this American life. And if you know her stories, you know, she has this very, I don't know, clear eyed but very generous way of writing about all kinds of people who are in conflict with each other and captures just amazing and revealing moments on tape. I really love this new show. You can find all five episodes of nice white parents wherever you get your podcasts.

[00:00:58]

OK, I've said enough.

[00:01:00]

Here's today's show. Support for this American life comes from Sitka Salmon shares a community supported fishery delivering seasonal shares of traceable sushi grade wild Alaskan seafood, learn about their small boat fleet, fine recipes and order at Sitka. Salmon shares dotcom.

[00:01:21]

Support for this American life comes from, indeed the most visited job site in the world, indeed can get you the important hire you need, just like they have for over three million businesses for a special offer visit.

[00:01:34]

Indeed, dotcom, American terms and conditions apply offer valid through September 30th.

[00:01:43]

When Geoffrey was 22, he had this rare problem with his eyes and doctors had to use lasers to fix vessels that were bleeding at the back of his left eye, which worked great. But not long after, on a cold, bright winter day, he came into his house from the cold and saw this color.

[00:02:00]

And it was it was almost like an after image, like when you look at a bright light. Yeah. And it was a blind spot, right. Where they had put the lasers. And instead of seeing blackness, was this greenish, not green. It was like a green that could never exist. And it was fluorescent and it was kind of pulsating and staticky.

[00:02:23]

Got that green but not green. You know, actually maybe a better way of describing it. It was like if the color black was fluorescent and green red.

[00:02:36]

I'm just going to say those words back to you. If the color black were fluorescent and green. Yeah. You know, that sounds crazy, right?

[00:02:45]

Yeah, yeah, you know, has some color seem more energetic, like like bright red or bright yellow and others are more peaceful, like like, you know, sort of a blue green sea color like. Which is this.

[00:03:05]

It was both it was both energetic and calming, but a lot of the color is greenish, right?

[00:03:16]

It's in the kind of green family. Yeah, it is greenish.

[00:03:20]

I remember I bought a bunch of markers a while ago trying to to find a way of representing it to my doctor.

[00:03:26]

And so if you're to try to paint it or draw it, you would start with a kind of fluorescent green. Right.

[00:03:32]

And then what would you add to it to add the other part that is not green.

[00:03:38]

Black and like. Like fireworks. You just said black and fireworks, yeah. He said that if you've ever had a migraine headache, you can come with a kind of colorful, sparkly static. It was like that fireworks.

[00:03:56]

But really, he said he's never done a good job describing this, how do you describe a culture that only you have seen? OK, which of these things would you say about this color?

[00:04:07]

What does it remind you of the feeling of punching somebody in the face or more like a soft kiss from somebody who you're just falling in love with or more like warm toast and butter on a cold morning?

[00:04:21]

You know, I have to say, some of those of those three options you give me, I think I only have lots of experience with the third.

[00:04:30]

And does the color remind you of that one? You said warm toast and butter on a cold morning. Yeah. Now, does the color. Does it remind you of the feeling of hope or more a feeling of kind of existential dread, existential threat, the color? Does it remind you at all of the feeling that you get when you're a kid and you get either a ho ho or a ding dong and it's sort of cool.

[00:05:02]

And so the outside shell of it is perfectly hard and you bite into it and it cracks open and it's soft and chocolaty underneath.

[00:05:14]

No. The car, does it remind you of the feeling of somebody going to cook something for you and you don't really know if they're a good cook or bad cook? And then it turns out they're just an amazing cook. And everything you eat, you think like this is a very good version of this particular thing that I'm eating.

[00:05:29]

You know, it was a little bit more mundane than that. When you see something that nobody else can see, it can be terrifying.

[00:05:38]

Jeffrey was scared that maybe something was seriously deteriorating with his vision.

[00:05:43]

But once it became clear that he was going to be fine, there's going to be able to see he had this other impulse to show his friends share it.

[00:05:50]

Well, yeah, I used to make drawings of it. I used to make drawings of the shapes, like I used a black pen. And then I did the outline in that fluorescent. And, you know, it's like, yeah, I wrote to my friends and they didn't they didn't get it. They didn't think it was that that neat. What would they say? Oh, man, usually usually what I get is that's interesting. That's the worst.

[00:06:14]

Yeah. First, when you see something that other people can, you're stuck, I think for most people you want to tell somebody you want to share it, you want to do something. Today in our program, we have three stories of people in this exact situation, one involving science, one involving comedy, one involving angels. These people see something nobody else can and they cannot stop themselves. They can't shut up about it. NBC, Chicago, it's this American Life.

[00:06:43]

I'm IRA Glass. Stay with us. At one, do these jeans make me look fatwahs? Well, let's kick things off with this story of somebody who not only sees something that nobody else sees when she tells other people about the stuff she sees, they don't buy it. Investigative reporter David Epstein explains. I wrote a book called The Sports Gene, it's partly about how some super athletes are genetically different from the rest of us. They have super genes, their physiological freaks.

[00:07:25]

I was deluged with emails from parents wanting to know how they could find out if their child had Michael Jordan genes. A coach wrote, offering up his players as guinea pigs for genetic experimentation. There were so many unhinged emails coming in that I pretty much stopped opening them. And then I got this one that had the subject heading Olympic medalist and muscular dystrophy patient with the same mutation.

[00:07:48]

I opened it, figuring it would be a link to some article that I'd missed in my reporting.

[00:07:52]

Instead, it was a note from a thirty nine year old Iowa mother. Her name was Jill Viles. She was the muscular dystrophy patient and she had a wild theory linking her genes to an Olympic sprinter named Priscilla Lopes sleep.

[00:08:06]

And she wanted to send more info. Sure. I said send it along.

[00:08:11]

Why not?

[00:08:13]

Days later, a package arrived, a 19 page illustrated bound. I thumbed through it.

[00:08:20]

It was a little weird, hand drawn diagrams with cutouts of little cartoon weightlifters representing protein molecules, old photos of herself and her siblings, the original pictures, not copies.

[00:08:31]

There was a detailed medical history, and it was clear she knew some serious science. She described in detail how proteins function. She referred to gene mutations by their specific DNA addresses, the way a scientist would. And then I landed on page 14.

[00:08:46]

There were two photos, one of Jill in a royal blue bikini sitting on a beach, her torso looks normal, but her arms, it's like they're on the wrong body, like the stick arms on a snowman. Her legs, too, are so thin that her knee joint is wider than her thigh. Those legs can't possibly hold her upright. I thought. The other picture was of Priscilla Lopes Scheelite, who'd been ranked the best hurdler in the world.

[00:09:11]

In 2008, she won the bronze medal in the 100 meter hurdles at the Olympics in Beijing. In the photo, she's in mid stride. It's hard to describe just how muscular she looks. Picture all the muscle you can imagine on a woman. Now picture more in that photo. Priscilla is like the vision of a superhero that a third grader might draw. Huge muscles bursting from her thighs, like her skin, can barely contain all the power beneath her ropey veins snaking along her biceps.

[00:09:39]

This is the woman Jill believed.

[00:09:41]

She shared the same genetic code with a similar sleep as Jill, remember, whose arms and legs are like still pretty good.

[00:09:47]

But look at low sleep. She's coming on for some sleep, making a move to the finish. She goes and she will surge across that line. A world leading time of twelve fifty to all Jill's life. Doctors have been mystified by her case. They had no idea how her muscle disease work, much less how to treat it. She did know her disease came from a rare genetic mutation and she wanted to reach Priscilla because looking at photos of Priscilla seeing her body, she saw clues that made her believe Priscilla had the same mutation in Priscilla did.

[00:10:17]

If Joe was right, then scientists might figure out what was making Jill's muscles shrink and Priscilla's muscles ballooned. And maybe people like Jill could someday be helped. The whole thing seemed like a long shot, so I reached out to Robert Green, a geneticist at Harvard who I got to know while writing my book. He's an important proponent of people being allowed to get their own genetic tests. But after looking at the pictures of Jill and Priscilla, he thought Jill was almost certainly wrong.

[00:10:47]

He doubted that anything in common and science aside, he had other concerns.

[00:10:51]

For one thing, you know, somewhat famous athlete, just like any other celebrity, can become the focal point for an individual for various reasons in a very unhealthy way. I was concerned that empowering a relationship between these two women could end badly.

[00:11:10]

Yeah, I mean, you know, people go off the deep end when they're relating to celebrities they think they have a connection to.

[00:11:19]

Of course, this is a very polite way of saying maybe she's a nutjob.

[00:11:24]

I wondered the same thing. How could you not? The idea that an Iowa housewife working off Google Images would make a medical discovery about a professional athlete whose body has been obsessively examined for years by a small army of doctors and athletic trainers, it seemed pretty ludicrous. But the fact is, people with MDs and PhDs have been telling Jill that her theories are ludicrous, pretty much her whole life. And she was born in 1974. At first, everything was great.

[00:11:57]

She met all the normal baby milestones. She sat, crawled and walked on time. Then at age four, she started stumbling and tripping all the time, constantly falling flat on her face.

[00:12:07]

I would describe this fear I had about witches fingers. This is Jill. And, you know, my mom was kind of puzzled. What what was I talking about? Which is fingers. What do you mean? And when we walked, I felt a sensation, almost like they were little. They were gnarled hands and fingers reaching up and grabbing my shins. And I'd fall really forcefully. That was kind of the beginning of noticing something was different.

[00:12:29]

Jill's dad remembered that he'd had some problems walking around the same age, which is doctors said was the result of a very mild case of polio. But Jill's troubles were much worse than her dad's had ever been, and no one could give them an answer. Her pediatrician was stumped. He suggested they take her to the Mayo Clinic. They were stumped there, too. They tested the whole family and found that Jill and her brother and her dad all had signs of muscle damage.

[00:12:53]

But Jill was the only one having trouble walking.

[00:12:56]

It might be muscular dystrophy, the doctors thought, but that didn't usually show up this way in little girls, they were really, really sure they'd never seen anything like this.

[00:13:05]

They said our family was extremely unique and they couldn't define what type it was. You know, ultimately that's good in one way because they're being honest. But on the other hand, it was terrifying. What is my life expectancy? What are the symptoms that I'll be dealing with? It's alarming if you don't have something to grasp a hold of.

[00:13:26]

Jill went back to the Mayo Clinic every year and it was always the same. There was nothing the doctors could do, nothing new they could tell her. The constant falling eventually stopped, but was replaced by a burning sensation in her legs, and while she was growing in height like a normal girl, the fat in her arms and legs was vanishing. By the time she was eight, her arms and legs were so skinny that other kids could wrap their fingers around her wrists and ankles.

[00:13:51]

By age 12, veins were popping out of her legs, kids asked how it felt to be old. And then her muscles started to fail again, I can remember just getting on a bike, I'd always ridden and feeling like someone came up behind me and just threw me into the handlebars and got a big bruise across my chest from, you know, I fall so hard I couldn't hold myself over to the bike. I just start my muscles to just start quivering and roller skating.

[00:14:16]

I invited a friend to go with me and I can't even stand up on the skates. And I'm just sitting there going, something is just something's terribly wrong. How rapid how quick was that that you basically lost the ability to roller skate and ride your bike?

[00:14:29]

I would say probably within a few weeks we still didn't even bother to tell our parents what was happening. She knew there was nothing they or the doctors could do about it. By the end of that summer, the symptoms eased up. She could walk OK again. She started looking for answers on her own, but she did it the way a kid would.

[00:14:54]

You know, I'm having my body do things that I can't control. Forces are acting on me and I developed curiosity, fascination with things like I would read about poltergeists and I would bring home lots of books from the library. I remember it really freaked out my dad at one point because he, you know, tipped over my book bag. And there's all these books about supernatural things. And he was like, Why are you into the occult or what?

[00:15:22]

You know, there was nothing of the sort it was about.

[00:15:25]

I couldn't explain what was going on with me. The doctors couldn't explain. And I found these people that people couldn't explain what was happening to them. Totally fascinating. I believe them.

[00:15:44]

By the time she went to college, Gillard maxed out at five foot three and about eighty seven pounds, she decided that if she was going to figure out what was happening with her body, she'd have to do it herself. So during Jill's first semester, she set up camp in the library. She began poring over every textbook and scientific journal article she could find on different kinds of muscle disease.

[00:16:02]

So I just thought, well, I'll start reading about them one by one and see if something fits. She did this for months, going article by article like a police officer driving up and down every street doing a grid search. But nothing really fit until she came to a page in a medical journal about an extremely rare type of muscular dystrophy called Emiri Dreyfus.

[00:16:23]

And then looking at the pictures, it was a very startling thing to realize. I'm seeing my dad's arm, just an instantaneous lock on something that's in your visual memory.

[00:16:34]

What did you see as the little girl? I would notice he had what I called Papy Arms, big forearm and hand muscles.

[00:16:43]

And then as I'm reading about Amerie Dreyfus, they actually describe the look of the arms as a Popeye arm deformity. But, you know, there were very, very few photos of women with Emmery Dreyfus muscular dystrophy. The journal described the three hallmarks of Emmery Dreifus patients, they couldn't touch their chins to their chests or their heels to the floor, and their arms were perpetually bent at the elbow.

[00:17:07]

And I'm getting chills reading this, thinking, well, I've got all three a really great visual to think about that is shockingly a Barbie doll. That is elbows that don't bend and feet slanted to fit into high heels actually is a terrific representation of what does every Dreyfus look like? Which is very ironic because we give this to little girls and say this is perfect and we're actually handing them a doll that has a genetic disorder.

[00:17:31]

So when you flip open your eyes and you see these pictures and see these descriptions, is it like the light bulb just flipped on and this is it, the light bulb? I was sure it's eerie.

[00:17:42]

It's great, but it's terrifying. What was very frightening was to read.

[00:17:49]

There's a lot of cardiac issues involved with this disease.

[00:17:53]

Emmery Dreifus patients, children often drop dead of heart failure. She became obsessed with reading about it before she went home for college break. She stuffed her bag full of medical books and journal articles.

[00:18:03]

I purposely even hit them under several books because I didn't want to alarm anybody at home. And I went out in the kitchen long enough to make microwave popcorn. And I came back into my my dad was reading them and I tried to take them away. And I'm like, just don't, you know, don't read those. And he was really sucked into it. And he said, well, I, I have all these symptoms. And I said, well, yeah, I know the arm thing and the, you know, the neck and and he said, no, he said, I have all these cardiac symptoms.

[00:18:31]

He'd always thought the stiffness in his muscles and heart troubles were unrelated.

[00:18:34]

He said, well, the doctors told me I had a virus not to worry about it. We both just looked at each other.

[00:18:40]

I said, well, you don't it's not a virus. It's this. We have memory.

[00:18:44]

Dreyfus They went to the Iowa heart center where doctors put a heart monitor on Jill's father. His pulse rate dropped below thirty beats per minute, which meant he was either about to win the Tour de France or he was about to drop dead. He had a pacemaker put in immediately. She saved her dad's life.

[00:18:59]

I mean, just absolutely amazing. This is Jill's mom, Mary. If it wasn't for her, how would we've ever known this? I remember being in the hospital that day and I think he was just in of Jill and, you know, just love, total, total love for Jill.

[00:19:21]

But I think it was a hard burden for her because it just seemed like, you know, no one else was looking.

[00:19:29]

The Iowa heart center wasn't set up to confirm whether or not her family at Emory Dreyfus, that wasn't their specialty. So she went looking for someone who could remember she was nineteen.

[00:19:39]

Well, I went to a neurology clinic. I can remember even what I wore that day. I dressed up as professional as I could. I wanted to be taken seriously.

[00:19:49]

I mean, I, I had on a Navy pantsuit and tried to present the articles to my neurologist.

[00:19:56]

And how did you even start that conversation? How did you make your case?

[00:19:59]

I just said I'd been studying genetics. I've been spending a great deal of time in the library and I've come across these photos and I am sure this is what we have. And this is this is the name.

[00:20:10]

And could you look at these with me?

[00:20:13]

And the doctor just was very abrupt with me and said, no, you don't have that and refuse to look at the papers.

[00:20:21]

It might seem rude that a doctor would refuse even to look. But at the time, most doctors believed Emory Dreyfus only occurred in men. Also, this was a self diagnosis coming from a teenager, a defiant teenager.

[00:20:34]

There was times that when I was in the doctor's office, I would see my chart and it would just list diagnosis, muscular dystrophy, unknown etiology.

[00:20:42]

I hated seeing that I'd literally just take a pen out of my purse and I scratched it out and I'd write Emily Dreyfuss Muscular Dystrophy and my mom would see me do that just like you cannot you can't change your chart. And, you know, I want it listed what I have. In a reading binge, we come across a group of researchers working out of Italy. They were looking for families with Emmery Dreifus to study, hoping to locate the gene that causes the disease.

[00:21:14]

Jill decided to write to them.

[00:21:16]

She mapped out a family tree, noting the symptoms she saw in her father, two younger brothers and a younger sister.

[00:21:21]

Then she stripped down to her underwear and that I set the timer on my camera and I took pictures of myself because I thought, well, if that's how I identified it, let me send a picture and just inquired, would you want to take a look at our family?

[00:21:35]

Up to this point, the Italians had only collected for other families to study, so they were thrilled to hear from Jill and they immediately wrote back from the letter. It seems like they think she's a scientist who has access to a lab. They asked, can you send us DNA if you cannot prepare DNA, just send fresh blood. But 19 year old Jill soon learned you can't just go to the local hospital and say, draw my blood. I want to send it to Europe.

[00:21:59]

So Jill convinced a nurse friend to smuggle needles and test tubes to her house.

[00:22:03]

They filled them up with samples of her family's blood and ship them off to Italy. Today, you can sequence an entire genome in a few days, but back in the mid 1990s, not so much. It was four years before Jill heard something definitive back from the Italians. They confirmed she had Emmery Dreifus. She'd been right all these years despite everyone telling her otherwise.

[00:22:26]

One day I open email and there it was. And that was a weird feeling to realize, OK, this is it. And I clicked on it and they told me the name of the team and it was nuclear.

[00:22:37]

Lamen The researchers had discovered the genetic cause of Jill's illness, a gene called the Lamington. What makes the Lambin gene really important is that it affects the command center inside every cell in your body. This turns other genes on and off, like light switches, changing the way they build fat and muscle. Jules Lamington has a typo in it, a serious one along the spiraling ladder's of her DNA, the three billion Giese Ts and to make up Jill's genome.

[00:23:05]

She had one letter in the wrong place, and it's just almost darkly comical to think seriously on this quest to find out. OK, well, what happened exactly? It comes down to a G was changed to a.

[00:23:26]

Soon after, Jill got an internship in a lab at Johns Hopkins that was mapping diseases associated with the Lambin gene.

[00:23:33]

The lab director had heard about Jill's research on herself and saw a chance to have not only a dogged intern in the lab, but also their very own real life Lamen Mutant.

[00:23:42]

Jill's job was to sift through scientific journals and find any references that had been linked to a Lambin mutation. Sitting there day after day reading, she came across an incredibly rare disease, a disorder called partial lipodystrophy. It causes the arms and legs to look as if all the fat on them has been melted away, leaving veins and muscle to stand out. Looking at photos of patients with the disease, Algeo could think was that these people looked like her family members.

[00:24:07]

Could Jill and her family have not just one but two rare genetic diseases? The odds of getting one of them was one in a million. The odds of getting the other is one in at least a million and the odds of getting both together. There haven't been enough human beings in the history of our species that anyone should ever get both. So just like before, when Jill discovered Emmery Dreyfus, she zeroed in on a photo in a medical article and saw herself in it.

[00:24:40]

And just like before she tried to get confirmation from doctors, she tried to tell scientists that she had the second rare disorder, partial lipodystrophy.

[00:24:48]

And just like before, they said no. They said that statistically there was very little chance that could be true. Instead, they diagnosed her with something a little more common.

[00:24:58]

They didn't necessarily laugh at me, but were kind of incredulous that, no, you don't have that.

[00:25:05]

And they even kind of described it as inturn syndrome, where you have a medical student that's being introduced to a lot of new diseases and they keep thinking they have what they're reading about. I just thought, well, I must be wrong. I think I, too, is buying into that idea that that's quite a reach to think that you have the second genetic disorder, because it's so rare, too. I just kind of thought, well, maybe I'm just maybe I'm nuts.

[00:25:33]

So I kind of backed away from that, even though it was kind of a deja vu feeling.

[00:25:43]

So she dropped it. She stopped reading about this new disease, and before long she stopped doing research into Emory Dreyfus two, mostly because the research she was doing started to freak her out in the case studies she read the average person with Emory Dreyfus was dead by their early 40s. She was twenty five. And anxiety over this was landing her in the hospital.

[00:26:04]

I had two panic attacks that were brought on by the stress of reading all of these things that they just died suddenly. And I went to a counselor for a while. I worked with my cardiologist and we decided it was just too much information. It wasn't healthy. So I really just didn't look up things, didn't read articles. And I really got to the point that I decided I want to go on with my own life.

[00:26:31]

So she went cold turkey. No more medical research, no more DIY diagnosis. She took a job as a writing instructor at local community colleges and taught adult education classes. At night. She started dating, eventually meeting the man who would become her husband. And even though there was a 50/50 chance that she would pass on the Emory Dreifus gene mutation, they decided to have a child.

[00:26:56]

Her pregnancy was normal, and her baby, Martin, doesn't have the disease. But after he was born, Jill really deteriorated physically. If you ever had a muscle twitch, you know how strange it feels to not have control of your body. Jills muscles started twitching from head to toe, sometimes for hours at a time, and she was suddenly having to hold on to her husband to steady yourself.

[00:27:16]

The best way I can describe with what it was like, it would be like where gravity is getting incredibly heavy and it's something turns up the knob and, you know, you think of how high would they have to turn up this gravity that I can't get up off the floor by myself. I can't stand upright. I can't take a step. You know, it's a tremendous amount of force pushing on the body.

[00:27:38]

By Martin's first birthday, she could barely walk.

[00:27:40]

One day he was calling that he wanted macaroni and cheese.

[00:27:45]

And I knew I was you know, I'd like six steps to take my I realize this is the this is that this is the last six steps I'm going to take. I just knew was at that point that I was going to not be able to get up again. At the same time, Jill's father was also losing his ability to walk. So father and daughter transition to life in motorized scooters. Jill says her dad was discouraged for the first time in his life after a visit with a neurologist.

[00:28:12]

He told her, I feel like I go there just to be weighed. Then one day she got a call from her mom and it was about dad. He just moved from his scooter into his favorite chair. He said to my mom, he just felt tired and then he simply just bowed his head and he didn't breathe again and he died. He had a sudden cardiac death. At what age was that? He was sixty three.

[00:28:37]

On the day he passed away, Jill and her siblings and relatives gathered at her parent's house.

[00:28:42]

After most the people had gone, it was kind of slowing down. And my sister said, I got I got this to show you. She starts pulling up pictures of this extremely muscular athlete. And I just took one look at it and just kind of went, we don't want you know, we don't have that. I mean, what are you talking about?

[00:29:01]

This, of course, was Priscila at first, Jill didn't get it, didn't see any connection with the bound athlete. It had been twelve years since she went cold turkey on medical research. But a week later, Jill got curious. She started Googling pictures of Priscilla not just running photos, but shots of her at home, doing regular things like feeding her daughter baby food.

[00:29:22]

It helped seeing the clothing on her to see how it fit. It was just unmistakable. It's like a computer that can analyze a photograph and get a match and be 100 percent sure. That's the same shoulder. That's the same upper arm. I see the same veins. I see them branching this way. You just know. And that's hard to convey. How could you just know? But I knew we were very likely cut from the same cloth. Very, very, very rare cloth.

[00:29:53]

It was the third time Jill saw something in a photo other people didn't see. It had happened with Emily Dreyfuss. It happened with Lipodystrophy.

[00:30:01]

Now, she saw that she and Priscilla were both missing fat in the same places on their arms and legs. They had the exact same muscle divisions in the exact same places, in the hips. And but Jill was certain this was because they shared a mutant gene. And the only question was, why did the gene blow up Priscilla with muscles and take Jills away? This is my kryptonite, but it's her rocket fuel. I mean, we're we're like, you know, comic book superheroes that are just as divergent as could be.

[00:30:31]

I mean. Her body has found a way around it somehow. I know that sounds like the plot of a Hollywood movie. In fact, it's totally the plot of Unbreakable the Bruce Willis Samuel L. Jackson film.

[00:30:45]

Jackson plays a broken bone, physically fragile man searching for his genetic opposite, a man born so strong his body will survive any physical trauma in the final scene. Jackson tells Willis that he's the guy.

[00:30:57]

It all makes sense. In a comment, you know how you can tell who the arch villain is going to be, he's the exact opposite of the hero.

[00:31:11]

So Joe wanted to enlist Priscilla in her genetic detective work, but there was a practical problem, she had no idea how to go about reaching her.

[00:31:18]

I mean, I've had crazy ideas like, can I fly to Canada and show up at a meet and greet and try to talk to her. And it's if you're on this motorized scooter and it's like, you know, you're just going to end up the restraining order at best.

[00:31:30]

I mean, people will think you're crazy.

[00:31:32]

You know, I was just trying to resign myself to the fact that, well, you know, what am I going to do?

[00:31:38]

A full year passed and then Jill happened to be in earshot of her television when I started yammering about athletes and genetics on Good Morning America, find the best fit for your unique genome and then specialize in the mid teen years and 60s.

[00:31:51]

Just the pattern that most this is just divine providence.

[00:31:53]

This is exactly what I'm looking for. Jill reached out to me with a request, and I did happen to have a way to get it to Priscilla through her agent.

[00:32:01]

It was such an odd request. Is this really out there? Right. This, of course, is Priscilla. He was just like this lady. She's in Iowa. She says she has the same gene as you and wants to have a conversation. I was kind of like, oh, I don't know, Chris. And like, you just have a conversation, like, see where it goes.

[00:32:21]

Joelson, Priscilla, the same bound packet that she sent me. And it wasn't any of the cryptic science that got to Priscilla. It was a childhood. Stories Jill shared about kids pointing at the veins in her legs. Priscilla said she always used to come home sad and crying. She'd ask her parents, Can I get the veins removed from my legs?

[00:32:37]

Because, you know, the boys are making fun of me just like you.

[00:32:41]

Your legs are vaine you like, what does it look like that once she grew up, the finger pointing didn't end. It just morphed. When people see huge shredded muscles like Priscilla's on an athlete, it usually means one thing steroids. And Persil has been dogged by doping rumors since college. After she won the Olympic bronze medal in Beijing, some media outlets in Europe began to openly accuse her.

[00:33:04]

And of course, there were the not so furtive glances you'd walk by and people kind of like would whisper like, oh, look at her glutes, look at her, look at her arms or her her shoulders or her calves.

[00:33:13]

And just like, oh, look, look, look. It's more like I remember there is one picture that was put up. They put like a big dude's face on my body.

[00:33:24]

And I was just and he's just like kind of like I'm laughing because I'm like running and pushing towards the finish line.

[00:33:31]

So I'm using every ounce, every inch, you know, every piece of energy, my body to get to that finish line. That was pretty messed up.

[00:33:38]

And I was really pissed about that.

[00:33:40]

And they just I got tested like I felt like I was targeted because I got tested. So much for track and field.

[00:33:47]

And I think a lot of people really, honestly, truly believed that I was taking steroids at the World Championships in Berlin in 2009.

[00:33:54]

Priscilla was drug tested just minutes before winning a silver medal. There's not even supposed to be any drug testing that close to the race.

[00:34:01]

Then the following month, at a meet and greet, someone stole their training journal out of her bag. It was at the very bottom underneath expensive workout clothes and shoes, none of which were taken. Why steal a training journal?

[00:34:13]

As someone who's covered a lot of doping stories, I'm convinced someone thought the Journal contained her steroid regimen. Priscilla and Jill spent a lot of time talking on the phone, and eight months after I first put them in touch, they finally met in person in Toronto where Priscilla lived.

[00:34:31]

They picked a hotel lobby. Jill arrived first.

[00:34:34]

So I got to be a few minutes past the time we were going to meet and then a couple more minutes and I started to get really scared because I'm like I have so much riding on this. I was just watching the doors, like, OK, is this or is this? You know, I wasn't sure. And I see this lady that, oh, my gosh, this is like seeing family.

[00:34:52]

Priscilla felt the same way. It really was just like a wow moment. Like, do I know you kind of thing.

[00:34:59]

Like, how do you. So then we start talking kind of just just giggling about it, like, OK, I'm going to flex for you.

[00:35:04]

And then she she like, you know, it's a little harder for her to get her sweater. Also shipowners sort of after show me sexy. I do have I do have the definition too. I'm like, you do, you do.

[00:35:14]

But she's like it's a lot smaller than yours.

[00:35:16]

And then we kind of giggle and but it was still like, OK, there's something real, there's something here. Let's let's research. Let's find out.

[00:35:24]

Because how could the gene do this to you and do this to me? That's that was where my question was and like how it took a year to find a doctor to test Priscilla. Finally, Jill went to a medical conference and approached the foremost expert in lipodystrophy, Dr. Abhimanyu Garg, who runs a lab at University of Texas Southwestern Medical Center. He agreed to do the testing. The results showed that Jill had been right. She and Priscilla do have a genetic connection.

[00:35:52]

They each have a single typo on the same one of our twenty three thousand genes, the Lambin gene. It's not the exact same typo, but they're almost right next to each other. That splinter of distance and type of location makes the difference between Jills muscles and Priscilla's muscles. It's why Jill has Emmery Dreyfus and Priscilla doesn't. But Dr. Garg also found that they do share a disease, they both have the exact same rare subtype of lipodystrophy, the disease that wastes away fat.

[00:36:22]

Jill had been told it had nothing to do with her back when she was a summer intern at Johns Hopkins. Jill had been right about that all along. Dr Gard called Persil immediately to give her the news. He caught her at the mall shopping with her kids and I was just dreaming about going and getting a big juicy burger fries.

[00:36:40]

And Dr. Ghar calls me and says, I have your results. I'm like, OK. And then I was like, Can I call you back? Because I'm in the mall right now. He goes, No, it's kind of important. Are you about to go eat lunch? And I was like, yes, he's like, you're only allowed to have salad.

[00:36:56]

You're on track for a Pankratz attack.

[00:36:58]

And I was like, see what?

[00:37:00]

Then he told Priscila that despite her rigorous training regimen, her untreated lipodystrophy left her with 15 times the normal amount of fat in her blood. Her next hamburger could land her in the emergency room. She was that close.

[00:37:13]

In other words, once again, Jill steered someone away from a medical disaster. She'd saved your dad's life. Now, using the cutting edge medical tool known as Google Images, she caused the most intense medical intervention in the life of this professional athlete. That's what I was like. Oh, my gosh. Like, if this wasn't for Jill, I would definitely have been in the hospital. And I called her and I told her I was like, you pretty much just saved me from having to go to the hospital.

[00:37:37]

And she goes, What? I go, Doctor Greg told me that I had the gene and my numbers are like out of the roof. Scientists can learn all sorts of things by studying very rare genetic diseases, for instance, research on a rare gene mutation that gives people freakishly low cholesterol levels led to a drug that treats high cholesterol in Alzheimer's. Treatment might come from studying a small group of people in Iceland. They have a super rare mutation that protects their brains.

[00:38:08]

Recently, a group of scientists started something called the Matchmaker Exchange. It's a kind of OK Cupid for rare diseases where people can share genetic and symptom information with each other and doctors. The hope is that it will spark new discoveries.

[00:38:21]

It's just the willpower of deals that make things possible.

[00:38:27]

That's Etienne Lafe, a molecular biologist in France. He does super technical work on a protein with the lovely name Sareb one. It affects fat storage. And his research team showed that messing around with it can create mice with almost no muscle at all, or potentially little rodent Schwarzenegger's. When Jill first reached him, she told him that he may have found the actual biological mechanism that makes her an priscila so different.

[00:38:51]

OK, that's true. Is kind of reflection from my side saying that's a really good question.

[00:38:58]

That's a really, really good question, because I have no idea of what they can do with genetic disease before she contact me. Now I have to change of path of my team, uh, research subject. And this is only because she'll contact me two years ago.

[00:39:20]

She's totally awesome.

[00:39:21]

And have you ever had the experience of someone outside the scientific community affecting your research agenda in this kind of way?

[00:39:31]

In my life, knowing people from outside coming and giving me Culp's new idea. I have no other example of these kind of things, you know, maybe happen once in the scientific life.

[00:39:49]

Of course, this is so different than the skepticism Jills gotten from scientists and doctors for decades. I check back in with one of the doubters, Robert Greene. You know, the geneticist at Harvard I first talked to who was so incredulous about any genetic connection between Jill and Priscilla, I emailed him the results of Priscilla's genetic test.

[00:40:07]

Oh, I was knocked over. I was completely and utterly astounded. And I remember thinking I was I was ashamed that I had doubted this individual because she turned out to have a remarkable discovery.

[00:40:22]

About a week after I talked to Dr. Greene in Lafe, I played those conversations back for Jill. Could you hear that OK? Yeah, I could hear that. So and so, so what's in your mind when you hear that? Yes, it really does feel really good. Well, it's kind of like had this weight come off of me, some I'm exhausted emotionally and intellectually and in every way possible, and I am so happy. You know, I don't want to be the crazy person that's on the Internet all the time coming in.

[00:41:03]

You know, I really feel confidence we can go somewhere with this. And I got some really great people. Jill says she's proved her point. She says she's retiring from DIY medical research. She gave me the same line that professional athletes use. I want to spend more time with my family. But her mother doesn't believe she's retiring, nor does Dr. Lafe. And I certainly don't believe her. Recently, Jill sent me an email. She picked up on a tidbit in a very technical scientific paper about potentially reversing muscular dystrophy.

[00:41:37]

I don't want to read too much into this, she wrote me. But of course, I'm curious.

[00:41:51]

David Epstein, the book that he wrote that kicked all this off is called The Sports Gene Inside the Science of Extraordinary Athletic Performance.

[00:41:58]

And he wrote an update about Jalen Priscila in his book Range Why Generals Triumph in a Specialized World TV Show is a rerun. And in the years since we first ran this story, as predicted, Jill has gone back to the research game. She has a blog called DIY Scientist DOT Blog.

[00:42:19]

She still talks to Priscella, who's now retired from track and field scientists at a genetic sequencing company in the U.K. heard our story about Jill and Priscilla, and they reached out to Jill and offered her a whole genome sequencing and then they flagged a variant in the gene Smed seven.

[00:42:35]

This discovery led to Jill becoming a candidate for gene therapy coming up. OK, you know, we started today's program with the color green. That was not green. After the break, Tig Notaro finds joke. That is also not a joke.

[00:42:50]

That's when WBC Chicago when our program continues. Support for this American life comes from Sitka Salmon shares a community supported fishery delivering seasonal shares of traceable sushi grade wild Alaskan seafood as a member receive a share of their harvest fish and crustaceans responsibly caught by their collective of small boat fishermen. It's meticulously handled for fresh from the ocean flavor delivered free to your door. Meet their fleet, access recipes and order at Sitka. Salmon shares dotcom use code to sell by September 20th for a special discount.

[00:43:28]

Support for this American life comes from, indeed the most visited job site in the world, with 73 percent of online job seekers visiting indeed each month indeed can get you the important hire you need, just like they have for over three million businesses. Indeed, gives you full control and payment flexibility over your hiring. You only pay for what you need. You can pause your account any time. And there are no long term contracts for a special offer visit.

[00:43:57]

Indeed, dotcom American terms and conditions apply offer valid through September 30th. It's this American Life, I'm IRA Glass. Each week on a program, of course, we choose a theme, bring you different kinds of stories on that theme today. Show something only I can see. We have stories of people who spots something that no one else has noticed and then feel compelled to tell somebody, show somebody, do something about it.

[00:44:21]

We've arrived at Act two of our program, octo mom jokes so comedians don't usually laugh at their own jokes.

[00:44:28]

As a rule, it's gauche, makes things as funny as a rule. But as Vanhanen once said, rules are for fools.

[00:44:36]

Tig Notaro has been on our program before. She talked to Nancy Updike a few years back before Coronavirus about a rule breaking addition to one of her standup shows. As we know, 58 percent of all important events in America start in the car, Tig and her fiancee Stephanie were driving along with her mother, her sister, my stepfather and my brother.

[00:44:59]

And we were in New Orleans. And this is a big car. Yeah, we had an SUV and my fiancee, her her mother was telling us this joke that she had come up with.

[00:45:16]

And in trying to tell the joke that she had made up, she was laughing so hard she couldn't get the joke out.

[00:45:25]

This went on for a couple of minutes, laughing, catching her breath, almost starting to tell the joke, and then more uncontrollable laughing until everyone in the car was laughing, just watching her, trying to tell the joke, like, I don't know that I've ever written a joke.

[00:45:42]

That's funny.

[00:45:43]

This is you, right? This is my job. And I have never made somebody laugh because you are making your own self laugh. Exactly.

[00:45:53]

It's just like what? Come on, Carol, what is this joke? And then BTIG had a vision of what needed to happen at her next stand up show.

[00:46:06]

It became very apparent to me, I just thought. Oh, my gosh. I have to have her on my show to tell her joke, whatever it is, before she got to the joke, before she even told you, just while she was laughing.

[00:46:24]

Yeah. Oh, my gosh. Immediately.

[00:46:31]

Oh, boy. Coming to the stage, please welcome my girlfriend's mother, Carol Ashton.

[00:46:47]

Two weeks after the car ride, Teague made her vision come true. Carol walks onto the stage at a comedy club in Los Angeles called Largo. She's not in jeans. She's not in a comedy club casual. She is a tasteful mom in cropped white pants carrying her purse. She is a civilian.

[00:47:07]

Yeah. How are you feeling?

[00:47:10]

Well, I can't really describe how I'm feeling because I've never felt this emotion before, so I don't know what it is. You just bummed everyone out, Carol. Carol knew two things about her own joke when she walked onto the stage, she knew that it was not a very good joke, she told Tig when Tig was trying to convince her to come on stage.

[00:47:35]

She said, this is nuts. Nobody's going to laugh. Carol also knew that she herself could not tell the joke without laughing. She was living the mystery. Many of us have lived the all the way inside joke, the joke that is funny beyond reason in your head. And you cannot communicate the funniness because you don't even understand it. That's what Carol knew. So she was nervous.

[00:48:01]

Can you tell me how and when you thought of the joke? OK. Well, first, I would feel a lot more comfortable if I left.

[00:48:14]

No, actually, actually, I would feel a lot less uncomfortable if you if everyone left you.

[00:48:23]

But if you told them this was not my idea. Oh, they know that one. Was there one person at all here tonight? Do not be shy. Raise your hand if you think Carol Ashton said, hey, is Carol.

[00:48:58]

I have got some standup that is going to blow your mind. Carol, I can't just put you on stage at Largo. Wait till you hear the joke, kid. A kid must be good. Nobody here thinks that you asked to be here.

[00:49:27]

Were you driving along and the idea came to you?

[00:49:30]

Yeah, I was driving alone and I got this great idea.

[00:49:35]

I thought, this is a very funny show, which is why you're here tonight, Carol.

[00:49:43]

Here first, I have to explain, though, it's kind of like, hey, go ahead, we'll set it up that it's like a play on words, you know?

[00:49:52]

So it's good to explain what genre the joke is. Don't let them figure it out. You tell them. Tell them, Carol. Well, well, Stephanie said it's like that Lou Gehrig joke where it's, gee, what are the odds of getting Lou Gehrig's disease?

[00:50:16]

It's that kind of joke. All right, we got the genre down, so I'm driving along and it came to me about the only problem is it's about somebody that's not really in the news, never really in the news, but in the public eye anymore.

[00:50:39]

OK, so it is out of date. Yeah, it's out of date. That's the down side. All right. So we got the genre. We have established that this is completely out of date material.

[00:50:56]

And so since you're the comedian, not right now.

[00:51:02]

Of course, everything Carol is doing is usually comedy death, explaining the joke, exposing the machinery of it. It was. And she is killing anyway.

[00:51:11]

Should I say who the joke is about? Well, that's necessary, right? It's your job. I OK, so the joke is about Paris Hilton. See what I mean? Like Paris Hilton's. Yeah. Well, you know it it's actually so.

[00:51:29]

So yeah. It's about Paris Hilton. And so this is the joke.

[00:51:33]

Who would name their kid. But that is always part of the joke. She laughs at herself for two minutes, Carroll's rocking backward and slapping her knee. She's laughing so hard she has spent the last ten minutes giving caveats, laying out everything the joke has going against it, why it's no good.

[00:52:05]

And then when the joke comes into her head as she's about to tell it, none of that matters how secure after a hotel chain.

[00:52:25]

I know the same people that would name their kid after a famous city in France.

[00:52:36]

I think it's so funny. No, I. Ladies and gentlemen, Carol Ashton. I mean, I when I got off stage that night, I don't know if it was Flanagan, the owner of Largo, but somebody was like, I think that was the biggest response that they had ever heard in that room. It was almost like one of the biggest comedians in the world made a guest appearance on my show. All jokes start inside jokes inside someone's head.

[00:53:21]

Some of them make it out into the world and catch on. And that's comedy the way it usually works. This was a rare chance to root for the other kind of joke, the non starter, the crush no one understands, including you. Your rational brain can make its rational arguments. And then what? You stop having feelings you don't understand? No. Nancy Updike. It's one of the duties of our program. Tig Notaro has a new podcast and advice show called Don't Ask TIG.

[00:54:03]

It is available now wherever you get your podcast at 3:00. Earth Angel.

[00:54:17]

So we close today's program with this story about somebody who sees and believes something that nobody else does from Etgar Keret.

[00:54:24]

It's read for us by actor Alex Karpovsky on Bernadette Avenue right next to the central bus station. There's a hole in the wall. There used to be an ATM there once, but it broke or something or else nobody ever used it so that people from the bank came in a pickup and took it and never brought it back. Somebody once told Judy that if you scream a wish into this hole, it comes true, but you didn't really buy that. The truth is that once on his way home from the movies, he screamed into the hole in the wall that he wanted Daphne Ramal to fall in love with him and nothing happened.

[00:55:00]

And once, when he was feeling really lonely, he screamed into the hole in the wall that he wanted to have an angel for a friend and an angel really did show up right after that. But he was never much of a friend and he'd always disappeared just when they really needed him.

[00:55:15]

The angel, a skinny and all, stooped and he wore trench coat the whole time to hide his wings. People in the street were sure he was a hunchback. Sometimes when they were just the two of them, he'd take the coat off once he even let you touch the feathers on his wings. But when there was anyone else in the room, he always kept it on. Kids asked him once what he had under his coat, and he said was a backpack full of books that didn't belong to him and that he didn't want them to get wet.

[00:55:42]

Actually, he lied all the time.

[00:55:44]

He told Duty's such stories you could throw up about places in heaven. How about people who, when they go to bed at night, leave the keys in the ignition about cats who aren't afraid of anything and don't even know the meaning of scat, the stories he made up or something else? And to top it all, it cross his heart and hope to die.

[00:56:11]

Woody was nuts about him and always tried hard to believe in, even lend him some money a couple of times when he was hard up.

[00:56:17]

As for the angel, he didn't do a thing to help Judy. He just talked and talked and talked, rambling off hair brained stories. And the six years he knew him, Woody never saw him so much as offensive glass. Knew he was in the army in basic training and really needed someone to talk to, the angel suddenly disappeared on him for two solid months. Then he came back with an unshaven don't ask what happened? Pace So you didn't ask?

[00:56:43]

And on Saturday, they sat around on the roof in their underpants, just taken in the sun and feeling low. We looked at the other rooftops with a cable hookups and the solar heaters and the sky. It occurred to him suddenly that in all their years together, he'd never once seen the angel fly. How about flying around a little? He said to the angel, it make you feel better? And the angel said, Forget it. What if someone sees me be a sport would enact just a little for my sake.

[00:57:16]

But the angel just made this disgusting noise from the inside of his mouth and shot a gob of spit and a white flame at the tar covered roof. Never mind the result. I bet you don't know how to fly anyway. Sure I do. The angel shot back. I just don't want people to see me, that's all. On the roof, across the way, they saw some kids throwing a water bomb, you know, who smiled once when I was little before I met you, they used to come up here a lot and throw water bombs on people in the street below.

[00:57:46]

I'd aim them into the space between that awning and the other one, he explained, bending over the railing and pointing down at the narrow gap between the awning over the grocery store and the one over the shoe store. People would look up and all they'd see was the awning, they wouldn't know where I was coming from. The angel got up, too, and looked down into the street. He opened his mouth to say something. Suddenly outI gave him a little shove from behind and the angel lost his balance.

[00:58:14]

Udi was just fooling around. He didn't really mean to hurt the angel just to make him fly a little for laughs. But the angel dropped the whole five floors like a sack of potatoes, stunned, would you watch them lying there on the sidewalk below? His whole body was completely sterile, except the wings were still fluttering a little. That's when he finally understood that of all the things that Angela told them, nothing was true. And he wasn't even an angel.

[00:58:45]

Just a flyer with wings. Alex Karpovsky reading Etgar Keret story Hole in the Wall, which is collected in his book of short stories called The Bus Driver Who Wanted to Be God. American unbury about. Produced today by Stephanie Foo is Zoe Chace Stankonia, Neil Drumming Holography, Walt Miki Meek, Jonathan Mann, Keepa, Robin Semino Listenership, Matt Tierney and Nancy Updike. Our senior producer for today's program is Brian Reed. Editing help for today's show from Joe Level and Julie Snyder.

[00:59:35]

Research up from Christopher Ciotola and Weifang Music of Today from Damien Gray from Rob Geddis. Additional production help with this rerun from Nora Gale and Catherine Reymundo. Special thanks. Today to John Pemble Heidi Rheem, Stephanie Ogburn and Jennifer Aymond. Jeff Antman, you heard the beginning of our program. The guy who saw green, that was not green. That was an artificial lens in his left eye. He says the green color sensation is mostly gone except for very rare situations where he goes from extremely cold places to very warm ones.

[01:00:02]

Jeff has no idea why that happens. Jeff is the host of Here Be Monsters, a podcast about Fear in the Unknown. Our website, this American Life blog, This American Life is delivered to public radio stations by parks. The Public Radio Exchange spoke to this. American life comes from Sitka salmon chairs, community supported fishery, delivering seasonal shares of traceable sushi grade wild Alaskan seafood. What about their small boat fleet? Find recipes and order at Sitka Salmon Shares Dotcom.

[01:00:34]

Thanks as always to our programs co-founder Mr. Troy Malatya. You know, he and I were on a flight together. We got delayed on the tarmac for three hours. We got to the point where we started calling out to the cockpit and heckling the pilot.

[01:00:46]

How about flying around a little bit? Make you feel better? I'm IRA Glass, back next week with more stories of this American life.

[01:01:10]

Next week on the podcast on your local public radio station during a public meeting in Provo, Utah, here's how the audience reacted when a teacher testified that every student needed to wear a face mask to school.

[01:01:23]

It was just wild to be surrounded by so many grown adults who were shouting at me. Yeah, and just wearing a mask in that space. Put a target on your head immediately.

[01:01:34]

Let's go, Fano began. What happened? Did kids wear masks next week on the podcast of This American Life?