The Medical Detectives - Rachel's Story: The Century-Old Mystery Uncovered by AI

Episode Date: February 12, 2025

In this episode of The Medical Detectives, we dive into one of the most astonishing medical mysteries we've ever encountered. Rachel takes us on a 132-year journey through her family’s unexplained health conditions—joint pain, heart problems, hair loss, and unique facial features—symptoms that spanned five generations without a clear answer.From early childhood struggles and relentless medical appointments to being dismissed by specialists, Rachel’s search for the truth seemed endless—until she took matters into her own hands. Armed with determination and an AI-powered diagnostic tool, she cracked the code that no doctor had been able to solve. What she uncovered not only changed her life but also gave her son, and future generations of her family, the answers they had been searching for.Join us as we explore the intersection of AI and medicine, the importance of patient advocacy, and the emotional impact of finally getting a diagnosis. This episode is a testament to resilience, technology, and the relentless pursuit of truth.

Okay, this has to be the most mysterious of all of our medical mysteries. I will tell you, I at no point during this story had any idea of where it was going to net out, like at all. It's just a wild ride. I literally was on the edge of my seat, even as the expert who knew what the answer was. What's wild is I was, you know, thinking about this. This is, I think, the first episode where every single person on the call learned some really valuable information. And I feel like, you know, we hear a lot of stories, but you know, Erin is a doctor. So she's gonna know a lot of the doctor stuff. But

even here, she learned about something she did not know about in her own specialty, which is kind of wild. Yep. And that's part of being a doctor is continuous learning and it's part of our duty. And so I actually think that listening to patient stories is the best way to continue our learning. And with that, let's get into the story. Let's do it.

Ray Tilt. Thank you so much for coming. Welcome to the Medical Detectives. We cannot wait to hear your story. We talked about this earlier, but as this works, Anna has no idea what she is in for. And so I would like you to take us back to the start when you think your medical mystery started. I'm so excited. Well, I can tell you it started from the very beginning. So we have to go back 132 years to my great grandfather from Poland born in like 1896. eight grandfather from Poland born in like 1896. So my great grandpa, he has my grandma. Then my grandma has my mom and four other, my grandma, and my great grandpa all literally look the same.

If you copy and pasted our faces onto each other, this is what we look like. So in my family, for 132 years, we have these weird clusters of symptoms. So for example, early on joint pain, so like joint pain starting in my mid 20s, you know, knee pain and other aches and pains, a history of heart problems, a history of losing like basically all our hair in our 20s. Like, yeah, but here's the thing, the hair that we do have is never really normal. It looks like if you had toddler hair, but kept toddler hair and you're just an adult with toddler hair all your life. Like very fine?

Very fine, very thin, very slow to grow. Now I'm like, what's going on? What's going on? Other thing we have is we all have fingers that point in different directions they shouldn't like see, mine are angular, they're not straight. So nobody ever said that was, you know, anything abnormal. And in my family, we joked about like how we have the mom gene everybody looks like my mom and my grandma my uncles and we all look the same so we all have the same features we had the

mom gene the Alisa gene because that's my mom's name is Alisa so basically we're all like carbon copies of each other we all have hair problems early hair loss small faces oval, kind of long. We have a little mark line on our chin. Everybody has it. It's a horizontal crease almost. We all have thumbs that are short, wide and are rectangular shaped nails. We have short toes. We have noses that are pear shaped. We have the same eyes. We have deep set eyes,

kind of large eyes. I mean, the same cheek, like same everything. It's really wild. And like I said, we joked about this, but we didn't think too much into it. We just thought we had some really strong genes. And I did have some health problems, but I was premature. I was born three months early, so about 26, 27 weeks, and all the way back in 1984. So my parents really didn't have a lot of hope. They were told by the doctors, hey, your kid's probably not going to live because back then things weren't as advanced now. And when you're 26 weeks old back then, it's not really a good outcome. So that was that. I lived in, it's not really a good outcome. So that was that.

I lived in the NICU for a little while. I was in like a little incubator. And then eventually I got better and I was able to leave the hospital. And I developed normally, you know, I didn't really have anything too crazy, except I was born with something called Fezicoruridal reflux. It's a very long word. Yeah, I know. I have absolutely no clue what that is.

No, and I can explain it very simply. Most people have their kidneys, right? Kidneys filter everything out and it goes into your bladder. I was having a problem where the kidneys were backflowing and it wouldn't empty out into the bladder. Was there like no connection or is it just like... There's a connection but it's messed up. So the ureters normally help drain the kidneys to the bladder.

And when you have this, they could be misaligned, they could be at the wrong angle. Gotcha. Yeah, something could be a little off with that. And so I was maybe a few years old when I started getting constant UTIs. So like I would go to the doctor, oh yeah, UTI, okay. Give antibiotics, okay. Off antibiotics, okay. Another UTI. And the cycle repeated for quite some time.

Karly How often would you be on antibiotics for UTI? Would that be like every month or is that like a couple times a year? Like how frequent? Tilda No, it was about every few weeks on and off because antibiotics are usually seven to 10 days, but you don't want to keep doing it too much because you can't get resistance to it. Karly So you were doing it like every couple weeks you're being put on a treatment of antibiotics for a UTI?

Yes, and then wait for it to clear up, but then it would come right back. That's okay. That's a lot. That's a lot. So eventually, yeah. So eventually the doctor was like, hey, this isn't normal. She needs to see a nephrologist, which is a kidney specialist. Because it's really not normal for a kid to be having back to back UTIs from a young age. Every episode I learn a new doctor. Nephrologist. Your doctor of the day. Kidney doctor. Well, this is educational. Yeah. So the nephrologist, I guess, did some tests and things like that.

And they said, yes, you have this reflux. It's true with your kidneys. One kidney was grade three and one kidney was grade four. Those are pretty bad. So you from a very early age have this abnormal kidney function. Correct. And how did that kind of affect your development growing up? I had to go to the doctors a lot. I had to constantly get tech. I got to tell you guys being little and having that kind of problem, you are like being held

down and having things stuck up your personal parts. Yeah, because they have that's how they do it. They insert a catheter and then they put dyes in and then they can see how things are flowing. So it's pretty invasive and I'm not going to lie, I kind of got a little bit traumatized by that because these are men. How would you not? Right? No, no, you're right.

These are men and like holding, you have to like be in a frog position usually and they would just do all these imaging and these tasks and everything like that. So yeah, for a five or six, seven year old, it was pretty not comfortable. That's a lot. It's a lot. It's a lot for a little kid. And I didn't understand it. Like if my parents had said, Hey, guess what? They have to do things, things to you because you have a medical condition. And my mom's a nurse. So she could have easily explained it probably in some way. She didn't. So it's more like, well, what are these people doing?

And then you have people saying, hold still and this and that. And it just was like, okay. And I mean, I'm a kid. I don't know anything. I don't know why. I just knew this is what we had to do. So from your perspective, just because I think that's a common thing that parents struggle with, how much to keep their child informed about diagnoses and whatnot.

And obviously, it's very specific and unique for each family situation. But from your perspective as a very young child, it sounds like you would have appreciated more transparency and education and knowledge about the situation. Yeah, and I do believe they had child life and things like that to try to help explain it, but I think as a kid I just didn't really get it. I think I guess I trusted my mom and the doctors that they knew what they were doing and I was there for a reason, you know?

Yeah. That's kind of where the trust with doctors kind of changed after later on in life. But we'll get into that. So when I was 12 years old, I had the re-implantation surgery. So they take out the ureters and I guess they like cut them or they can angle them or they do something where they fix like they corrected in some way and then they put it back in and then they hook everything up again. And then after that it was like I was cured. Okay. Okay. Now. Yeah. Yeah. So I was cured. So age 12, age 12. You went seven years with this condition and then

finally age 12 you were able to like have the surgery to get corrected. They don't want to do it too young, I guess, because you're growing. So they probably wait for a certain age when things are more developed and things like that. When your kidneys are a little bit bigger. Makes sense. Yeah. So I lived a very normal life relatively.

Like I would get made fun of obviously, because I know, I don't know if they'll be able to see my face in people, you know, listening. as you can tell I look a little a little different. When I was young I got mistook for a boy all the time especially by substitutes. Are you a boy or are you a girl? I'm a girl duh how do you not know that? But apparently because I had short hair then okay really really really, really short hair. So it wasn't an unreasonable assumption, I guess people would be like, Oh, you have such a gonzo nose like gonzo from the Muppets because I don't think it's big. I think I guess it's big compared to the rest of my nose like the tip is bigger than maybe

you know, because my nose bridge like right here is very small and it gets wider at the Base and then like this little like bulby at the end. So people would say oh you have such a large nose You're gonzo and there was this one kid on my bus. He I mean it got so bad I just I told my parents I don't want to go to school anymore. I hate it It's you know, I'm having problems or and and I dreaded it. Like I dreaded it really bad. But it got better as I got older. So you know, I was in high school. I joined some teams. I did bowling, varsity bowling and things like that. I also did start losing my hair in my 20s. High school is when it started kind of like changing. I looked like I had the hair of a 40 year old.

And like in school, I do remember, oh, these girls, they have such nice hair. How come I don't have that? They get to like dye it or they get to cut it. And it's so nice. So it's just like, oh, they could do so much. And I always wish mom, could you like get me excited? I never asked, but internally, I wish I want extensions. I want extensions. So other than that though, you know, live life as normal. And then when I was 24, I started having some heart problems. I was 24. I was on spring break.

I was going out to celebrate my sister's birthday. I was in college, nothing too wild, just going out to eat. And I was in the parking lot getting out of my car and I started having chest pain, like really bad chest pain. Now I have never had chest pain in my life. I have never had any kind of anything and I get them into the hospital. I was in the hospital for three days and then I got out. And then for about six months I was living my life totally fine, going to college, doing everything, you know, getting, I had a 4.0 GPA. I was living my life totally fine, going to college, doing everything. I had a 4.0 GPA.

I was doing great. And then I started getting headaches and dizziness and really high blood pressure, like out of nowhere. Okay. So I start going to regular outpatient doctors. Oh, we think it's this. You need to go to a cardiologist and things like that. So the cardiologist starts running tests.

And when I did the stress test, guys, my heart rate was 200 beats a minute. My blood pressure was 190 over 90. So during the stress test, because my heart rate was 200, they told me you have something called SBT. It's a type of arrhythmia. It looks a certain way on the EKG. That's what they diagnosed me as. But they thought it was still unusual because it's not really normal to be 24 and have such a high blood pressure or heart rate. So they referred me to a specialist, an electrophysiologist who specifically specializes in heart abnormal heart rhythms, an electrophysiologist who specifically specializes in abnormal

heart rhythms. The electrophysiologist at the first visit was able to say, hey, based on the data we have, I think you have POTS, postural orthostatic tachycardia syndrome. So I get my diagnosis of POTS and that was that. And I was good for a little while. I took medication they started me on. So that's not. And I was good for a little while. I took medication. They started me on. So that's not the end of the story.

Oh no. It's only the beginning, Anna. Oh my gosh. Okay. I thought we were like, oh, she's got pots. Okay. No. Okay. We're going. Keep going. I get my answer. Great. 24 years old. 24 to 30. Just live my pots life. It's debilitating. I'm not going to lie. So I you know, I had a job out of college and it affected my ability to work and things like that. But that was the answer. Okay, great.

I get pregnant at 30. Hey, I have my son. Towards the end of my pregnancy, they said that my son's long bones, so like the long bones and the legs were a bit short. He was born at a respectable time, 37 and a half weeks. My son was born at seven pounds. Cool. So they just take him away to the standard tests that they do and everything. And they ship him back to me and I get home and I go

through this paperwork, right? My discharge papers. And I thought to myself, what is this? What is a karyotype? And why is it here? Apparently my son was tested at birth for a genetic issue. No doc. Which is the karyotype? Is that okay? Yeah, it was two tests, a karyotype and a microarray. Yeah, it checks your chromosomes. Yeah, it checks it for any kind of deletions, duplications, any kind of odd stuff. Down syndrome. Yes. So is this like a standard test that they know? No. Erin, why would they run a test like this? So again, just kind of conjecturing, but for some chromosome abnormalities,

there are patterns of features. When you think of a baby born with Down syndrome, right? They have the wider set eyes, they have the lower set ears. So there are features that could cause someone to consider maybe there is a genetic disorder. And that's what the doctor wrote. He wrote on the paper indications of this, this and this. And that's why he did the genetic testing. However, no doctor ever told me that they did it. No doctor ever told me why they did it. So I was just kind of puzzled and I'm like, whatever, I'm going to leave this alone.

I have a baby. He's a very fussy baby. He's up every hour and a half. I'm not going to be messing around with trying to figure out what this is, whatever. Did they tell you the results or did they just tell you they ran the tests? They gave me a copy of the test. So the tests say normal. Okay.

Okay. So I'm like, okay, whatever. I have a baby. So a little bit of time goes by and then I start noticing my son is delayed in milestones, not walking, not talking, no tooth, you know, things like a normal baby. He wasn't babbling or anything like that. And I think because also he was small, because remember I said he was measuring short with the leg bone.

Yeah, they wanted to see him like every month to check his growth. And he started at seven pounds and like quickly fell off the chart. So he was at like zero after two months, zero percentile for height. He was born at like 24 percentile. Okay. And then he just dropped. And what is the normal weight for a baby when they're born? Well, he was seven pounds. So he was a normal weight and a normal height. But then everything just started stopping. He stopped having that normal height and things like that. His growth started to change. And before I knew, I think after two or three months, he just fell off the growth chart,

zero percentile, which is the lowest. That means every baby his age is bigger than him. So the doctors were like, okay, let's just do an every month checkup. We'll weigh him. We'll track his growth. Okay, cool. Again, you know, six months he starts to sort of learn to sit up. Fine.

That's actually perfectly normal, five or six months. But then we hit one year, 12 months. He's one years old, still not talking, still not walking, just got his first tooth. And he displays classic signs of autism, spitting everything, no verbal contact, you know, things like that. So I take him to his pediatrician and I say, my child has autism. So he looks at my son, smiles at my son, my son smiles back, and he says, no, he doesn't because he smiled at me.

What a weird answer, right? I think this doctor had maybe an old school view of things because he was an older doctor. So I guess to him if you don't present x y the z way then that's not what it is. But anyway, yeah. So now he's fast forward to when he's 16 months, he's still not talking and still not walking. This is very unusual at his age. So they say, okay, let's get you a referral. They let early intervention come in, do their tests.

Sorry to tell you, your son has autism. Sorry, I've been knowing this like, you know, so it was a real relief. He started walking at about 17 months, diagnosed at 18 months, did early intervention, started doing preschool half a day and then early intervention the rest of the day, started talking, you know, started catching up finally. He did have some motor delays, so he needed PT, OT, and speech, but otherwise he was okay. Rachel, I'm just to interrupt for a second. The fact that he was not growing, did they put him in what's called failure to thrive?

Does that term sound familiar? No, I don't like that term. And again, this is a while ago, but that's kind of the catchall for when children are not progressing on the growth chart. And when you think about it, then you have to realize it's not just about charting the progression, but why isn't this

child growing? Right, right. Especially because I developed normally, other than just being born a little bit early, I was able to catch up pretty quickly and my growth was actually pretty normal. But his was proportional. Yeah, proportional. Exactly. But his wasn't.

He would grow at, I guess, the correct velocity or the rate that a child should grow, but he was just very short, very, very, very short. He was gaining weight, but again, that would also be a very slow process. So pediatricians, at a certain point, they started realizing something was wrong because at about two, he started getting referred to specialists. So they should say, oh, take him to the endocrinology. Endocrinologists would do their work up. Everything's normal.

They didn't want to do what they would normally do when a child is a bone age study, which is where they take an x-ray of your hand, of the child's hand, and then they would compare it to other kids their age and then of other ages and then see what their actual age is. So this is just to give you a visual because I actually- You know a lot about this. ... performed these studies. It is a massive book. I mean, I'm sure it's digitized now,

but it was a massive book that just had pictures of kids' hands x-rays for like every month and hundreds of just pictures of kids' hands. And then you would match the current x-ray and try and line it up and see if you were on track for the right age. You know that nowadays you probably just upload your little picture and it goes do do do do do do do do and it pops out the right one.

Like did you ever think about all that time you spent matching pictures in a book that now there's just like probably a button you push. Yeah. The endocrinologist didn't want to do that though, because she said at his age at two, it really would not have been helpful until he was a little bit older. But you know, she did do blood work. I will say that we did thyroid growth hormone levels, all that stuff. Everything was normal.

But at the same time, he was also sick a lot, constant infections, respiratory infections, sinus infections. So like remember how I said, with the kidneys, I would get off an antibiotic and then be sick again. And that was the same thing with him, but just with respiratory. Oh, okay. Yes. So we did go to an ENT and he did have his adenoids removed, which is these little balls up in your nose. They were very swollen, so they were blocking his airway. He had sleep apnea actually, because I took him to the pulmonologist as well and they

said he has sleep apnea. I was concerned maybe he had cystic fibrosis or some kind of other issue that would literally cause him to be so small and so sick all the time. But it was ruled out and then the respiratory infections got better and now he doesn't have any more ear problems. He doesn't have sinus problems. He doesn't have sleep apnea anymore, you know? But still something just doesn't seem right. He's two years old, just really not growing well and things like that.

I also got a referral to a geneticist because remember that karyotype had said he has these features and I brought it with me to the geneticist and the geneticist basically says he looks like he has nothing. Literally that was his words to me. He took measurements. He looked at his face. He looked at my son's face. he looked like how their eyes position, your nose is positioned, how everything is positioned. He said, I don't think that it looks like he has nothing. That's what he told me. And I said, okay. He said, but I want to follow up in a year. So we do that. But he didn't run any genetic tests. No, nothing. Looked at him, took some measurements and said, doesn't look like he has anything come back in here.

So we do. So he's about three now. Okay. Again, same thing. It looks like he has nothing. How do you know without like, how does a geneticist know from looking at a person that they don't have anything? You know, I don't know because geneticists are literally trained to pick out features

that look abnormal or different and to come up with a solution or a probable cause. He never did any testing, nothing, literally nothing. Now I did bring all my other records that said, oh, thyroid's fine for your son and this and that. And he just said, looks like he has nothing. And like, okay, whatever, you know, he's a Genesis, I guess I trusted him, whatever. And then he gets a little bit older. So four or five, and then the pandemic hits. And that kind of put a kibosh on everything. And doctors are not taking people. They're not taking patients. I understand that because people are dying.

You're not going to make a room for some kid that doesn't have a life threatening issue or illness or anything like that. So because of the pandemic, all of the extra work that would have been done on my son, like the bone age study and this and that just kind of got left behind. So he was five years old when the pandemic hit. And then I recently took him back to the pediatrician for his 10th birthday for his vaccine. And again, he's still very low on the percentile.

I think he's second percentile in height, which means 98% of kids his age is bigger than him. He's four feet tall and he's in fifth grade. That's not normal. That's a short height. So again, when my son is 10 and I go to his checkup, hey, doctor, my son is four feet tall, he's 10 years old, You know, people are not going to realize he's almost middle school age.

He wears size six clothing. He is the size of a six year old. But he eats and he grows at a normal velocity or growth rate. And all the other stuff was ruled out. Although, you know, normal stuff was nobody's still because of the pandemic, no, he still wants, he don't want to look into it. He really didn't. I said, but isn't this a no, because he's actually approaching the growth curve.

It's fine. So this was October. Right. So the pediatrician kind of writes me off. And my my boyfriend's sister, Oliver's aunt, says something like, hey, aren't you concerned? I said, Ashley, I am so concerned about my child. I've been looking for answers ever since he was born. Ever since I realized that first doctor had ran genetic tests on a child without telling me or letting me know about it. I've been trying to figure this whole thing out.

I have taken him to every thing I could think of. They do testing. They say he's fine. He's fine. Take him to him to everything I could think of. They do testing, they say he's fine, he's fine. Take him to the geneticist, he's fine, he's fine. I kind of thought like, well maybe I was like, am I being a munchy mom? Am I reading too much into things? And that's when you started like, you know, questioning yourself. Is this real? Am I making it up? Am I thinking too much about it? But you know, I'm a very persistent person and I don't give up easily. And you know, I still felt like there's something bigger going on. And I get fed up and I said, this is this is horrible. I have to be able to do something. I need to now take control of the situation

and do what I need to do. So I downloaded an app called Face2Gene, and clinicians use this to help diagnose children with syndromes. And to have- What is this app? Rewes. What is this app? Rewind, like what is it? Yeah, so it's an app that you download. You do have to be a healthcare either provider or work in the healthcare field to have like

access to it to make an account and have it be approved. Phase 2 gene is a diagnostic tool meant for healthcare professionals. Because I work in a school district in healthcare, I was able to get it through that community, my job, and it uses AI to diagnose these things. And basically it's just an app you put in your picture. You put a picture. You can either take a picture on your camera or upload a picture and it analyzes your facial features and it looks for anything abnormal. If it's normal, then everything will come back, stay low, low, low, low, like low level

for any syndromes, low, low, low, low, low. I said, what would happen if I put my face into it? And I did. And as soon as I put my picture in there, it came back with a perfect match for a syndrome is. Yes. You ready for this mouthful guys? Okay, go for it. Trico- Rhino- Phalangeal syndrome. So phalangeal is the hand, right? Phalangeal is the hand,

Trico is the hair, and Rhino is the nose. Okay. Okay. So I'm like, what is this? I'm like, is this app lying to me? Is this like a false hit or something like this? Right? Because it's a big mouthful and I never heard of this thing. Okay. I think the biggest mistake a lot of people make just on their health journey is as they go on the internet, they put a little search in and then they diagnose themselves with

everything. Right. Right. And I understand. So I can get it. I get why you would be like distrustful of it. Because it's probably not your first rodeo of Googling everything. Right, right. And so I can get it. I get why you would be like, just trustful of it. Because probably not your first rodeo of Googling it. Right? No. And you know, I've never been given any direction or any kind of guidance by anybody. So, you know, right. Like, I don't want to self-diagnose myself and say something that I have, like as if I have it. And then it ends up not being true.

So thinking that this was a false hit or something like that, I start Googling and they come across clinical papers. And there are people that literally look like me. They look just like me in the face. Was it like me? That's so weird. So okay, so first it was the facial pictures.

And I'm like, this is like looking into a mirror. So then I look at the other pictures because I don't want to be like, oh, it's just a face. OK, whatever. Yeah. They have pictures of people's hands. Literally, they all have this. They all have their fingers crooked. They all have hair problems. So it's like literally looking into a mirror and being with family,

because we look so much alike. And I'm like, oh, I don't know. Like I was still like, oh, I don't know. I'm like, these are all my features. It's a perfect match. And when Face 2Gene came back with the match, it was the highest amount of match you can get. So the bar has different colors.

Low would be blue, orange would be like mid, and then green would be like the biggest percentage. And it has like a little line to show you how much of that percentage of those features that you this was an absolute 100% identical match. So I'm like, I was reading the clinical journals after seeing people who looked like me and had all these features. I said, this is me.

And then I called my mom. You will not believe this, mom. I think I have an answer for all of our problems for the last 132 years. And my mom's a nurse. So she was excited. She was like, really? What is it? And so, you know, we talked about it and we kind of said, Oh, yeah, this really does make sense. And I said, Mom, you know, did your family like, where did this come from?

Because we knew my grandma had it, but I had no idea how much further back it went. So my mom said, Oh, no, grandma looked just like her dad. So we were able to trace it as far back as her dad in 1896. That's when he was born in Poland. I cannot confirm anything from before that because there's just no pictures or no data. They were immigrants from Poland, you know, and there was no pictures of that time. So I immediately called the geneticist for an appointment because it's like, of course, after you know, after finding answers and possibly having an answer, oh, maybe I can get it confirmed. So I called the genetics office. Oh, we'll have to call you in April for an appointment in the summer. And I say, Okay, I get it. Whatever. And then

I'm thinking in my head at the same time, I'm like, no, the summer is too far away. There's got to be something better. So I started looking up companies and rare disease networks and programs that'll help. And then they actually found out that the makers, FDNA, of phase two gene, have their own company where they do genetic testing. Did you maybe like ring, ring, ring? Hello, do I have a story for you? Yeah.

So, well, first, because I thought it was false, I said, I'm going to put my son's picture in there too. Yeah. Same thing. Big match. Same, saying the same exact thing. And I said, mom, can you please put your face in this picture? I don't need to see her picture, but just please put your face in it and tell me if it's coming back with the same result. And again, same thing.

We all seem to literally come back with the exact matches for this condition. So with the geneticist not having any appointments for such a long time, FDNA has a tool where you can input symptoms of something and do what they call the child development checker. They could put your photos on the site in like a kind of like questionnaire kind of thing. They talk about like milestones, facial features, etc. They said, your child displays symptoms of a genetic disorder, we're going to refer you to genetic counseling. Great, because I'm not getting any answers to the geneticists where I live locally. I said, this is great, because then we can go over everything and we could talk about it and have like a real actual medical conversation and go through my entire family's history as much as we know,

really in depth and things like that. So I called and I made an appointment for the genetic counseling. It's done telehealth so pretty easy. It's a phone call 30 minutes to an hour, go over all your symptoms. You can add documents and I did to the portal. So I talked to the genetic counselor. I went over my son's history and my history. The other thing too is when I started reading about TRPS, it said 10% of people with TRPS have kidney problems, including VUR and heart problems. So when I spoke to the genetic counselor, we went over everything and he said, you know

what? You're absolutely right. There's a big concern for TRPS. You guys need to get tested. So we were able to get into this program where you can test for a large panel of 385 genes for skeletal dysplasias and TRPS is one of them. So we did the test and the results were going to come through on the online portal. I knew that there were results coming and I knew how long the timeline was gonna be. It says on the site, 10 to 21 days, averages 14 days. I've been checking the portal every day.

And for the last four days, it said analysis and interpretation. So what that means is they were actually interpreting the DNA and then doing the report. So I knew it was gonna be close. I didn't know when, but I refreshed it this morning and it said interpretation and analysis, interpretation analysis. And then I got home from picking up my son.

I said, you know what, let me, let me refresh. So I refreshed the portal and it said, Oh, report, report done. And I downloaded it and I as soon as I saw pathogenic variant for TRPS one, I literally screamed out loud. I said, oh my god Because what? And I said your genetic report came back and he goes, oh, I thought you lost a finger or something you were screaming I thought something was wrong. I said no,, no, no, Oliver. We finally got the answers. We were looking for all this time and it says you have it. And that just only confirmed

what I had known all this time, deep down that there was something wrong. And I'm like, Oh my gosh, because you know, the geneticist had said there's nothing wrong. There's nothing wrong. And in my heart, I knew something was really wrong and nobody could give me an answer. Like I said, you know, I've been to so many different doctors and nobody ever bothered to say, hey, your facial features are different or like, oh, your fingers are crooked. You know, like nobody's ever pointed out to me anything that was unusual. But like I said, growing up in my family, it was always that joke. Like, oh, the mom gene, the Elisa gene.

It just really feels good and validating because now my son can make decisions for himself and I can make decisions for him. It's really for it's really for him. It's not for me as an adult. They can't do anything for you. It's really for him, it's not for me. As an adult, they can't do anything for you. Like this is it, you're done growing, I'm done growing. But for him, he's still growing, he's still developing. And I just wanna make sure that he just develops

the best way that he can, now that I know for sure. How did that feel, like going through all of that? Cause not only have you solved your mystery here, you've also solved anyone else in your family's future mystery. And like, did you ever think about that? Like, you had to go through all of these things, which really sucked. They suck. Yes. Now, if someone is experiencing any of these symptoms you did in your family, you can go, Hey, we know what it is.

Yes. And you know, Oliver's aunt made a really good point. She said, Rachel, this is not your job. This is the doctor's job. These are the doctor's job. You shouldn't have to try to figure out your own problems. And she's absolutely right. You know, she's absolutely right. But as we all know, and I think, you know, even Aaron, who is an amazing doctor who fights for a lot of change here. Sometimes people get written off. Yes. And sometimes. And it's not intentionally. I don't think most of the time, sometimes it's because there's probably not a lot of people with your

condition. So I will tell you, I'm a hand expert and I have never heard of your condition. Whoa. And what I tell people is a lot of people who are on an undiagnosed journey and when you may hear physicians say there's nothing wrong with you or everything looks normal, it's that they have not found the problem yet. And some things we do not even have a categorization for. And the fact that your particular genetic disorder has enough people that they have been able to gather data to say, that your particular genetic disorder has enough people

that they have been able to gather data to say, okay, all these people, they have heart problems, they have kidney problems, they have hair problems, right? There's a lot of people going to get genetic testing and it'll just spit out, you have chromosome 15, 11 QP. Yeah. What does that, what does that, no, help me. And it takes time to be able to group all of those people and then to analyze all of the data and come up with

a name, right? That name did not exist probably before however long, you know, it was discovered. It's very fragile. But you know, I've got to be honest, I know it's rare, but I was also a little bit angry that no one caught this sooner. I mean, I spent the first two years shuffling from doctor to doctor to doctor with my kid, just to be told, hey, everything is normal. Come back in a year, come back in two years. Okay, great. Well, it's been even more than that. And there's still a problem. And that's the failure to me is like, why? Why didn't anybody just try to come up with something? Like I expect them to do the common things first, like, oh, thigh, okay, press my hair loss, thyroid disorder, autoimmune

issue. But when the common things are ruled out, you need to start looking at the rare kind of things. The rare diagnoses, the rare symptoms. They just failed me as a parent. And I give a lot of grace to doctors because I understand things in the medical world are not black and white. But for the geneticist not to recognize anything in my child, facially, body-wise, finger-wise, anything like that. And after two years old, that would have been evident on an x-ray. And I would have known right then and there before any genetic tests came back. So because this guy didn't really do anything, it delayed the diagnosis five extra years, adding on to the twice I've already been there. So it's actually seven years. He added seven years of a delayed diagnosis.

But now that we have the diagnosis, I can really start figuring out how to best help my son. You know, it's absolutely wild to see people who look just like me, you know, like have my hands, have my feet, have like every single one of the same symptoms. It's wild. So, you know, I started connecting on Facebook and holy crap, do we all look related? Like everybody says that, hey, you guys look like you have TRPS because I asked I said hey um you know this is what we're thinking this is I'm like what are your thoughts and they're like yeah you definitely look like one of us. We all look like we're related.

You look like a little club I love it. Yeah it's like a little a little club and that was really nice and all because these are people with the same problems and they're facing the same things. You know, it felt good to find a support system. This is so rare. 250 people in the world, 250 reported cases in the world. Actual cases are probably a little more. I'm sure people are missing it just like how they missed it with me, my son and my family for all this time. It felt good to find people who looked like me. I was really happy to know there's other people in the world with it. Now we all look literally related and

we all have the same things that we're going through. Like a lot of people in the community they talk about wigs, makeup, we talk about like resources. It's interesting to see how other people live and their experiences growing up. But it's also funny when they all commented, wow, that looks just like me as a baby. I'm like, I get it, I get it. I totally understand, because I feel the same way.

We all look the same too. We're really kind of funny, honestly. It's like we all look like we came from the same family. For example, I connected with a mom whose daughter has it and not diagnosed, but I said, your daughter, she looks just like me. She looks like my kid. She's probably got this. And she goes, yeah, you know, I don't know how to explain to her about the hair problems

and the other things associated with it. And I said, you know what? I understand because nobody told me that I was going to lose my hair or that our hair is not even it's not even normal to begin with. But then when we do have, we end up losing. And I said, you know, it's really important for her to know that it's going to happen and to prepare for it and that if she wants to, there are things she can do, like maybe she wants extensions, she can use a topper,

she can learn to wear wigs. A lot of us do wear wigs in the community. It's really important for us to like talk to the kids who have it and tell their parents like, hey, this is what we went through so that they know. It's like, for example, Oliver, now he knows, hey, he's gonna have hair problems later on and that's okay. And this is how you can deal with it if you want, or if you don't want kids with it, this

is what you can do. Or if somebody tells you something, this is how you can react. So it's really, really important to connect with other people, especially the kids. And I told my mom about the testing that I got done. I kept calling my mom mom Guess what? Guess what what all the genetic report came back? Guess what? It says we have TRPS And then she started crying I said mom. Why are you crying? I feel guilty. I'm like, why are you feeling guilty? I'm like first of all, you didn't know and

Second of all, this is not the worst disease to have. Yes, it is life altering. It is debilitating. I'm not going to say that. But when we think rare diseases, they're usually like catastrophic, really severe, really either terminal or super life threatening, really, really horrible, you know, causes all sorts of terrible, terrible things. I said, Mom, this is like like this is one of the better things to have and I can understand why she was upset and why she feels guilt and things like that because also my other sister has it So two out of three of my mom's kids have it so I can understand where the guilt comes from but I don't feel guilty because I

Understand that it's not life-threatening. My son has gotten all the help in the world. I did enough advocating. Maybe that's what it comes down to. I was always pushing, always telling doctors like, hey, his girl's not right. You know, I wasn't trying to play doctor, but I was always speaking up for him. Like when I told the doctor, hey, my child's autistic at one years old, you know, and if I hadn't, and there was no push

for the early intervention referral, then he probably would have like not talked until he was three or four, if at all. I don't, I don't know, because I was so used to advocating and doing everything I could, literally everything that I could for my kid. I don't feel guilt. I know you did this for your son, but is there any part of this diagnosis that changed or affected you in some way? Thinking back to when I was young, I think if people had known that I had a syndrome, they wouldn't have made fun of me in that way. You know what I mean? Little me would have been very happy to have known this because, and I could have stood up for myself.

Like no one's going to pick on somebody that has a diagnosis of whatever. But because you know, everything was unknown and I never knew and I was seemingly normal quote unquote, there was never really any reason to question just people just be like, oh, oh, you don't have a lot of hair. Oh, look at you. You know, I would, I would also say to like, you knowing would probably been really empowering because you probably just are like, why am I this way? And like, you know what? When we're teenagers, we have a lot of reasons to hate ourselves.

Like teenage years are rough. Yeah. So not knowing why you're different can be really like hard, right? why you're different can be really hard. Right? Yes. Yes. You're right. It's really validating. And if I had known I would have said, Hey, you know, what kind of person are you to make fun of somebody like me? Like, hey, what's your deal? Like you have a lot of gall to do that. And I would have stood up for myself more, but I was a very shy child and I didn't know what was wrong. Like I kind of figured there was something wrong because again, my fingers are a little curved and things like that. But I was again, a kid and I was just trying

to live life and I had the kidney problem and things like that. I had other things to worry about. I wish I would have had known then. But you get to give that gift to your son. So maybe you couldn't give that gift to yourself, but you can give that gift to your son. Which is something I think that is wonderful because a lot of people never get answers, but at least you got answers and you can help him. And you'll be aware of what's happening when it's happening. Yeah, no, you're right. No, and we talked about it. I said, Oliver, we have to get you tested.

We think it's TRPS and explained what it is. And I said, listen, it's TRPS and explained what it is. And they said, listen, it's going to affect how your hair grows. It's not going to grow very long. It's going to get very messy very easily. And when you're a little bit older, it might start falling out and you have a risk of passing it on if that's, you know, this is what ends up being. And I think you should know that because maybe he doesn't want to have a child with it. Then maybe they want to do IVF or something else, or maybe he's okay with the kid having it. He needs to know because it also affects his mouth. He has a very narrow jaw. I went to the orthodontist yesterday and he needs a lot of orthodontic work done.

I also think he needs to know just for other reasons, people with this condition have a higher I also think he needs to know just for other reasons, like people with this condition have a higher incidence of fractures, spontaneous fractures, early onset joint problems, hypermobility. Just thinking here, AI is something that everyone's talking about now, for positive and for negative. Yeah. How do you feel knowing that you got your diagnosis from AI? I am very happy about it, but I think there needs to be caution used. So I would have never thought

of what TRPS is. Like, what is that? Right? I would have never figured this out on my own. If I had never put my face into Face2Gene, I would have still been stuck. Oh, it answers. What is this? Like, what are we doing? Who do I go back to? So I'm grateful it was able to solve the mystery. But I also feel like people should take caution with it too. Just don't stick your face in there just because.

Because if you go fishing for things, you're going to find something you may not want to know. Maybe I didn't want to, maybe I didn't want to find out. Like I didn't want to find out, but maybe I wasn't that person that actually wanted to find out what it was. Um, so. Well, and also like my, my whole thought is, is like a lot of different programs have different levels of efficacy, right? So like in your case, it worked out really well, but I could see a lot of people like AI is notorious for getting some things wrong. Now I think in your case, it definitely got it right. But it's kind of like this, this,

you know, catch-22 where it's going to empower a lot of people with more challenging illnesses, but also might lead some people to self-diagnose, not a good way. So I just think it's very polarizing. It is. I'm not against it. I honestly don't know how I feel about it to be very real. I personally like it. So face to gene, I actually looked up the accuracy of it. Right? Yeah. So for Down syndrome, it has a 100% accuracy rate. It could detect every person's facial features at Down syndrome and not get that wrong. For other syndromes, it's about 97% correct. So as far as face to gene and their accuracy, I would say it's pretty accurate. However, you still need to look at the bigger clinical picture, right?

So if this had said, oh, okay, you have TRPS and they looked it up and I'm like, no, I don't have these features, like this doesn't make sense. This thing must be wrong. And I would have just been like, whatever. But in my specific case, it happens to be right. And it's actually scary how AI is involved to help medical mysteries.

Well, to go back to like the role of a geneticist and when that doctor just took a look at your son's face before we had AI, we had doctors were the AI only our pattern recognition was based on how many previous cases we had seen or how many articles we had read or whatnot. And so you have to understand that each doctor that you're going to is limited by their own dataset, right? How many people they've seen with this problem in the past. And yeah, I think the more we as physicians can utilize AI as a tool to assist us in making diagnoses because just relying on our own data set is not enough for these incredibly rare conditions, which by the way,

still, it's only rare because most people have never heard about it. In your family, it's not rare at all. No. You're right. It's the opposite. Most of us have the symptoms and the features and problems. I think my thoughts on it as I kind of process is like technology supports the people who create it. So if we want to ensure that medical AI really serves people is the best thing we can do is try to make sure that people are represented in the data that it uses, right?

To fight for accuracy and fight for efficacy in the use. And I think you're giving an example of an app that has done that, right? Has gone the extra mile to ensure, you know, safety. It's a little bit different than like putting in your symptoms to chat GPT and reacting to it that way. So I feel like there is a huge opportunity here, but with like anything there's risks, right? Yes. Yes. But I hope that we can get to a point where like we've, how many specialists have we talked about in just this episode?

A ton. Like, and, and, and that doesn't even scratch the surface of how many doctors are out there. So what AI can become is a way to connect doctors that often don't talk to each other through technology and provide resources. Imagine being able to upload your medical information into AI so a doctor can search through your history when looking at diagnosis without having to read through everything. Yeah, just for certain.

So a lot of opportunity there just has to be used ethically properly. Now I'm actually surprised that pediatricians aren't using it more. Cause if that a pediatrician has said, okay, you know what? Here's the paperwork. Cause they, he, they know his history. Like I bring reports with me, you know reports with me and it's in his file. If he had just taken the initiative to say, you know what, you're right. How about we just take his picture really quick, put it into this app and we'll just

see what happens. So I think people need to embrace, at least in a clinical setting, that doctors need to embrace it for the sake and the health of their patients. Because I would not have had to go on this. I call it an odyssey. It is a literal odyssey. If somebody had just taken the...

And this app has been around for years, so doctors have had access to it for a while. I'm also surprised that geneticists didn't even think of that. Well, and I think, yeah, I know, right? Yeah, maybe. Some doctors are more old school, more new school, just like, just like some people adapt to new technology faster than others. And I think this all comes back to, we have to advocate for the use of technology and we have to educate people on how to use it ethically in a way that

actually serves the patient. Yes. I would love to hear what you think, Erin, because you are a doctor and you probably have AI somehow affecting your life and your field. What's your perspective on it all? Yeah. I mean, I think they, I mean, they just, I was reading an article about the amount of breast cancer on mammography that was missed by just radiology alone reading versus the AI augmented

reports. And again, it's not that we rely on the AI on its own, but used in combination with a physician's expertise. We have to get on board. It's as simple as that. Is it pretty common for AI to be used by most doctors at this point, or is it still slowly being adopted? I would say it's independent if you're working in, say, a health system that has integrated, And I know NYU is implementing it in that. I don't wanna speak, I don't know the specifics,

but for example, let's say I'm making this up as a hypothetical scenario, but let's say someone comes into the emergency department with chest pain and shortness of breath, you may put that in and then they will say, it is recommended to do a chest X-ray and an EKG and this blood panel, right? And so you're kind of given best practices that have been culled from tons of research. The best way is that cases don't fall through the cracks.

And so in your case, even with your heart issues, why I talked in the beginning about how sometimes a diagnosis is really just a symptom is because you could miss a bigger picture because you chose to just stop at this point. Yeah. And that ended up happening. I mean, everything just like kind of clicked and made sense after that. And it's amazing. If you don't look at the bigger picture and you focus on just the small details, you're going to fall to the crash. Just like how I did and my son did and my other family.

And if I had never taken that initiative, we still would have been, oh, OK, it's just the Elisa Jean or whatever. And we would have accepted that. And OK, you know, it's really beautiful because you're giving your son what you couldn't give yourself. Yes, yeah, it's a gift. It's a gift. Yeah, it's a gift.

And Rachel, you are the hero of your own story. That's crazy, I didn't think it would be like that. I never imagined in a million years it would actually come back. I would actually have an answer. I thought I would die pursuing something that doesn't exist. Like no, it's really, okay, all the evidence says it's not this, it's not this, it's not this.

Like what am I doing it for? Well, doing it for my son because we know there is something out there, there is an answer. But you didn't just do it for him. No, I did it for my family. Yeah. You did it for everyone in your family. Like you have given people answers. And I think that if you haven't lived with a chronic illness, especially one that was difficult to diagnose, answers are just really powerful. Yeah. Just in just even feeling a sense of sanity. Yeah. And you know what, maybe somebody with this condition is listening. Maybe I will

help people. Maybe there's a family out there who's in the same position where everything's coming back normal, but there's a large family history of something. So I think the more we speak up about things, I think the better we will be as people and as society and doctors. Right. So when I go to this geneticist and say, Hey, guess what? We got this diagnosis. This is what it is. Maybe he will be like, you know what? This is so rare. Let me write this up in a case report. Right. Everybody wants to be a better version of themselves. And if I can help somebody in some way, whether it's like a doctor recognizes symptoms or a family or they go, wow, this person has been so persistent, maybe I should be too.

I'll be very happy if I just help one human being. That's my goal. Yeah. But you even said when you were a kid that you wanted to know you wanted to understand why things were being done. Oh, yeah. You get to give that gift to your son. Yeah, absolutely. And I'm really grateful. And I think AI will help in the future bridge

that gap between people who are showing symptoms of something or family history, but everything comes back normal. I think it'll help people find answers too, but it has to be done right. It has to be used in a good way. Thank you so much, Rachel, for sharing your story, for spending time with us, and you really will change people's lives. The Medical Detectives is a Soft Skills Media production produced by Molly Biscar. Sound design by Shane Drouse. If you have a medical story you'd like to see featured on The Medical Detectives, please

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