Case #05: Kyle

to find out why this was happening to me. How terrifying would it be to fight an unknown enemy, one you didn't recognize and didn't see coming. What if that enemy was coming from within a disease that even doctor couldn't identify. Nearly half of all Americans suffer from some chronic illness, and many struggle for an accurate diagnosis. These are their stories. I'm Lauren Bright, the checko, and this is symptomatic. Kyle Thompson grew up in rural Georgia, an adventurous,

active kid, playing any sports. His parents would let him try football, basketball, baseball, and acrobatic tumbling, while also diving into the world of video games. I'm big into Overwatch. That's probably one of my favorite games. Overwatch, and there's Rindescape and Rust are a couple of the ones that I play. And then of course, like you know, there's like Terraria, Minecraft, just a lot of those games passed.

The phobia is really funny like that one. So if you've heard it, heard about any of those, oh yeah, big Mindcraft Household was huge. Minecraft. I think it's kind of like a progression from Legos. Oh absolutely absolutely. What kinds of things did Kyle loved to do? Oh? So he was always on the move. Um, we're pretty proud he's we kept him alive this Um. He was just a go getter. If he had to be sitting still, he was not happy. That was Laura Thompson, Kyle's mom.

I was a an energy ball. That's how my mom would describe me. I was constantly wanting to run around or just follow people and just run and just do whatever I could get my hands on. He was just busy and active, and as soon as he was old enough he started playing sports. At age four, he started playing baseball. As soon as Kyle's ordered to play more

competitive sports, the injuries started to rack up. I would constantly come back inside from playing outside and I would have a bunch of cuts and bruises and weird just injuries and little stuff like that. And you know, I was always just told, oh, you're an active child. You know, it's just because he's a boy, or he's very active when he's outside. What seems like normal active kid injuries was actually the start of a really long journey of symptoms and multi decade battle for Kyle to find a

diagnosis for what was plaguing him. I actually have a picture of him with a cast on one leg and a walking boot on the other leg, and he was insisted on still playing catcher in baseball because he didn't have to move. So it's a pretty funny picture, but that was him. He just loved it, so he did. He just he just pushed through. Kyle was in and

out of the hospital constantly. Injuries that wouldn't be too difficult for most people to brush off seemed to land him back in the r There was this one time where I was walking in a forest with my brother and we were just hiking through the woods being kids, and I stepped in a small hole in the woods. I broke my foot. I completely like shattered my entire

foot because I stepped in a hole wrong. He was literally sitting on a bike and he just popped the handlebars up and the radius bone in his arm broken two. So he walked home and he just I saw his arm and I said, let's go. You know, the doctor said, bones just don't break like that the whole the bike. Seeing her son's ongoing suffering, Laura had her mother's intuition tangling that something was off. It couldn't just be that her kid was unmucky. As a mom, I questioned all

the time, should we be checking his bones? Is there something wrong? I don't feel like he should be hurt this much. And I heard over and over again, he's just got bad luck. He's just clumsy. He needs to be more careful. But it was just the littlest stuff ended up being such big injuries. So you just had your mother's instinct and this nagging fear that something deeper was going on. Most of his life I did. I

felt like something was just wrong. You know, he had so many friends and none of them were going to the e R like this many times. I mean, I know other kids were injured, but it was to the point where it was like something just is not right. That's how I felt. It felt like Kyle couldn't go more than two months before heading back to the e R with another break or sprain. Each time, the doctors chalked it up to growth plate fractures as part of

Kyle's teenage growth spurts. How many bones did he break? Like? How frequently was he injured? Oh my goodness, I would have to sit and count how many either braces or casts or oh goodness, there has to be over twenty, easily twenty. And then when he he his ankle pain just became horrific. All of these injuries made Kyle's middle school and early high school years extremely difficult. He always seemed to be in a cast, a walking boot, on crutches,

or all three. It got in the way of him being able to just go to lunch without needing the help of a friend to carry his lunch tray. He was teased a lot. I think I tried to protect him from some of that. Kids would call him stormtrooper just things like that, and they would make fun of him. I can't imagine, particularly given you know your desire to be active how difficult that must have been psychologically on you.

Oh my gosh. Yeah, Like all I ever wanted to do was play sports or just hang out with my friends and just like skateboarding activities or go biking and just things like that. It always felt like I was held back by my injuries, which is like such a terrible experience because when it comes to injuries, the normal person goes through a broken arm once in their life

or something like that. And to go through constant breaking of bones and dealing with physical therapy and going to the doctors, it was very isolating, and obviously, at the age of fourteen, no one around me understood what I was going through. So it's not like I could turn to my friends or turn to anyone around me. It was it was only myself, you know, going through these things. So it was really tough on my mental health for sure.

Relentless teasing from kids who couldn't comprehend Kyle's suffering and frustration with his own situation. His body physically could not keep up with his desire to do just everyday kid things. On top of the frequent injuries, there was also a chronic lingering pain. When you talk about the injuries that you had. Were you also experiencing ongoing pain? And how would you describe that kind of pain to me? Yeah? So I dealt with what I would just call it

as a child, as I was having weird pain. If I were to describe it to anyone, it would be so difficult because it was so uncomparable to the normal pain that kind of anyone experiences. My bones were literally aching. I mean I would lie awake in bed just struggling. It was awful to do with this underlying chronic pain was ignored as the doctors focused on the individual injuries in front of them each time, Fix this sprain, fix this break, all without seeing the dots connecting each of

these events together. Like why isn't he healing? Right? I questioned? You know a lot, but it just didn't get me anywhere. I couldn't the doctor. Would we take him in for an injury and they would focus on that injury if they didn't look at the whole picture, and they didn't look at even his former injuries and things like that and put it together as a big picture. Laura was constantly told it was just bad luck, or that she should wrap Kyle in bubble wrap. The guilt of feeling

like a bad parents started to creep in. She and Kyle continued their search for answers. Kyle was prescribed accutane for his severe acne, which appeared to trigger new debilitating symptoms, symptoms that shed new light on what was potentially attacking him. I turned sixteen and I was dealing with a lot of acne, and so I started on a medication called acutane,

which has a lot of serious side effects. It's a really strong medication, and I had pretty much all of the red flag symptoms, the ones that are like you need to stop the medication, called your doctor and all this. And I was experiencing blackouts. So I went stand up after sitting down for a little bit, and I would lose my vision and I would feel like I was going to pass out, so I would kind of like

stumble and fall to the ground. And at that point we were like, okay, so something serious is going on. It was sent to a pediatric cardiologist who ultimately diagnosed me with postural orthostatic tachycardia syndrome POTS. POTS. Postural orthostatic tachycardia syndrome, also known as POTS, is an abnormal increase in heart rate that occurs after sitting up or standing. So that was my first kind of true diagnosis. But you know, it didn't really leave me with any real answers.

It still had nothing to do with any of my injuries. It did not help with my worries of all of his injuries because they were very not related. That diagnosis, when you initially were given it, did that make you hopeful that now you had coping mechanisms to deal with it, that things were going to change. Honestly, no, it felt validating, of course for a couple of reasons, but ultimately it was a very small piece of the puzzle and it was probably the least important one. It really felt like

a small victory. And of course I I still appreciate the fact everything that my cardiologists did, but it wasn't enough. I Kyle. I have to say my heart kind of breaks for sixteen year old Kyle because you're going through all of that and then you're dealing with acne, which I know lots of teenagers deal with, but when you're dealing with it to the point that you feel you have no other choice but to go on accutane, you just must have felt like you were getting bombarded on

every single front in terms of your health. Yeah, it was so hard to be anything other than my my coal conditions or my symptoms. It was so I'm not even sure if I could describe it well. It it almost just felt like I was I wasn't living, I was just essentially existing. I was existing to find out why this was happening to me. You must have felt so isolated. It became so overwhelming. It showed everyone noticed it, my my parents, my my brother, my friends. It led

to challenges in my relationships around me. I just lost it. It was just too much to handle, and so I had to kind of like take a break from everything. He's just has had a lot to deal with, all the injuries and everything, and it just even made getting around school hard. So I think he just got to a point where he just needed a break. I had to stop. I was having daily panic attacks at school.

It felt impossible. I felt like I was against an impossible battle, and ultimately I had to I had to just sort it out at home, and so online school was my next best option. Life started to become a little easier when Kyle switched to online home school. His flare ups became more manageable, and he found a little bit of normalcy and happiness when he started taking acrobatic tumbling classes from sixteen to nineteen, I stopped having those

strange growth play issues. We assume that they had closed. So I was doing much better in terms of you know, at least I was only breaking my ankle once a year instead of like six times a year. When he tried tumbling. I've never seen him more happy. He just that was his favorite thing in the world. To see him in a place where he just is so happy and loves it. That's what you want for your kids. And I thought, oh, maybe this, maybe he'll be able to do this without so many injuries. And he was

also exceptionally flexible. Oh absolutely, yeah. So with every injury that you know, of course, they always prescribed physical therapy and things like that. In the physical therapist could go, well, you can already do all the things that I'm supposed to help you get to because he's so he was super flexible. Looking back at his recovery from injuries growing up, physical therapist often thought he didn't need much help rehabbing because he never had a problem with his range of motion.

But everything changed. When Kyle was nineteen, he started experiencing really bad back pain and went to the chiropractor for some more treatment. That was really concerned and I, I believe I started seeing him for about a month or so, and there was this one time that he did his adjustments on me and I was like, oh my gosh, I feel so much better. Being the super active young

man he was. Kyle went straight back to acrobatic tumbling practice after what he thought was that he a link chiropractor appointment, But after practice ended, he started to notice an odd sensation in his legs, almost as if they were really fatigued or heavy. Can you explain that fatigue? When you say it was like nothing you'd ever experienced before, how would you describe it to me? So I try

to explain it. How it feels when you are maybe sitting on the floor in a strange position and your leg goes to sleep or your foot goes to sleep, and the feeling that you have when you stand up and some of that blood starts flowing back into your leg. It's that kind of numbness that you get. It's it's that strange tingling sensation and that was starting to happen in both of my legs, and it got to the

point where I was just an excruciating pain. My lower back was just it felt like a knife was being jabbed into my spine. I told my parents like I was, like, there's something very wrong right now. I could just tell there was red flags everywhere. Kyle and Laura rushed to the hospital. The doctors took an X ray, but everything looked normal. Nothing on it seemed to explain his excruciating back pain. Was this tied to the symptoms that continued

to accumulate or was this something new? It was definitely the some of the worst pain I had experienced, and it was nerve pain, which was a whole different sensation from the chronic pain or muscular skeletal pain which I had been experiencing. And the nerve pain was no joke. It was brutal on both the mind and bodies. It was just a lot. So I went and saw the spinal specialist who ordered an m r I and I had it the day of which is unheard of. Usually an m r I takes a couple of weeks to schedule.

So I had the m r I that day. That I saw him and we're like, Okay, we'll get get some answers in a couple of weeks. But Kyle didn't have to wait a couple of weeks to find out the results. The doctor had a feeling that something was off, and luckily for Kyle, that doctor read the results the same night. They were terrifying. They walked up to my room and said that they had some bad news for me. I think my mom already started crying, and I was like, oh, ship, like,

something is obviously very wrong. I thought I had maybe kind of fractured my spine or something, or I'd broken a vertebrate or something, and they said they found a large tumor in your spine, and I lost it. It was I didn't think it was real, and I didn't think it was a prank, but I was like, there's no way that this is happening to me. That night was one of the hardest nights I had gone through. So,

oh my gosh, Kyle. Yeah, so I can imagine probably one of the most difficult things you and your husband had dealt with his parents was walking into his room and telling him that he had a tumor in his spine. Sorry, That was absolutely awful because we knew there was a mass We knew it was l ford S one in his spine, but we didn't know if it was you know, butinn is a cancer. There was just so much we

didn't know. So that was a very hard conversation. I apologize no when he told me that, all I could think of was having to walk into the room and not having the answers that you want to desperately give your child in that moment. Yeah, just just because act of what you said, Because you know, as a parent and as a mom, you're supposed to be able to fix what's wrong, and to just come in with this information.

It really wasn't until the next day that we met with a neurosurgeon that we really knew what we were dealing with, and that was that was Actually that conversation was fifty times harder. We'll be right back with Symptomatic, a Medical Mystery Podcast. Now back to Symptomatic, a Medical Mystery Podcast. Kyle Thompson had been suffering from a mysterious illness for almost two decades, countless breaks and sprains throughout

his childhood. A rough fight with the side effects of accutane a diagnosis of POTS, which still left his worst symptoms on, explaining frustration that no one seemed to hear his full story or try to put together all the pieces in a way that made sense, and now doctors have pound of tumor on Kyle's spine. I was having the red flag symptoms of the numbness and the tingling

and the pain. There was obviously some some serious stuff going on, and so I was pretty much rushed to the hospital and they got me into my room very quickly, and they told me that most likely the chiropractic adjustment caused the tumor to herniate, which means it started to bleed internally. Three days later, Kyle had surgery to remove the tumor. The tumor had intertwined itself so much with his spine that the doctors had to remove one third

of his vertebrae with it. The doctors were luckily able to remove the entire tumor and found it was benign but had been growing rapidly. All of that was a huge which relief to Kyle and his mom, but a couple of weeks after surgery, something strange started to happen. They noticed a large bump forming at his incision. We noticed some weird fluid coming out of it, some clear fluid. We're like, what is happening. So we went to the doctor and he said, you have a cerebral spinal fluid leak.

And so I was leaking spinal fluid out of my incision and I was having horrible headaches. Cerebral spinal fluid leak headaches are no joke. They're terrible, the worst head pain I had ever experienced. I couldn't even open my eyes while I was in bed, it was so much. Kyle had the spinal fluid drained, but the bump returned the next morning. He was now at his breaking point.

Through all of his injuries as a kid, the pot symptoms, the scare with the tumor, and now these spinal fluid complications, it was adding up to be too much for him. I was done. I was mentally that was it. I kind of honestly just like gave up. And I didn't even want to I didn't want to go. I didn't want to deal with another issue because I knew that if the bump was back in the morning, I was

gonna have to have surgery again. On the same area that I had been recently cut open into, which it was so mentally taxing to think about that again, think about the fact that the doctor had once again cut into an already damaged tissue. Was a very strange feeling, a roller coaster of emotions, symptoms, diagnosis and treatments, treatments that felt like they weren't making any significant progress. Even the successful surgery to remove the tumor in his spine

left lasting side effects, leaking spinal fluid. But these lasting side effects turned out to be the key clue to finally finding out what had been plague and cart all these years. After the second surgery, my spinal surgeon came into the room after everything had healed, and he said I had extremely fragile skin and that he had only ever seen that in patients that get diagnosed with Eilish Danless syndrome. And I just went, oh my god, I mean I just got chills. I just had chills again.

I was like, did you recognize something is wrong? And we were like, okay, what does that have to do with me? I don't we don't understand. And we started googling the condition, started learning more about what connective tissue meant all these things. And my mom and I just looked at each other when we were researching these things, and she's like, this is you like this, You are this condition. You are exactly every symptom that they mentioned, or or every feeling or all of the strange things

that I experienced as a child. Kyle and Laura went to see a geneticist who gave them the official diagnosis of Eiler's damn those syndrome, also known as e d S. That must have been incredible, because it's like you've been looking at this puzzle for almost twenty years at that point. Yeah, you know, it's funny. It felt like one of those uh in those cheesy detective movies where they put the newspaper over something in the words match up or whatever.

It felt like that. It was so at the beginning it was very validating, and then a couple of days later, I just thought it was comical because it was like, there's all these pieces just lined up and it it really just made sense. I just thought back and I was like, how did no one put this together? Like all the signs were there for decades and we just needed the one person to think outside the box and

connect all of these weirds and them together. What is this diagnosis meant for you and for for Kyle, Well, it means at least we know. Not knowing was harder. I think it is a relief. You know there's no cure for either stand those there's things you can do, and that's good. But knowing that you're not just crazy and making things up, and sometimes I want to go back and say, you see you guys, you know, don't be so mean. You don't know what people are dealing with.

So it's it's helped in a lot of ways a bit of much needed relief and validation for Kyle and his mother. Knowing the illness they were up against, they

were no longer blindly battling this disease. Kyle's current doctor, Dr Linda Bluestein shares a bit more on the typical symptoms of e d S. So e d S stands for Ailor's Danlois syndromes, which are a group of nective tissue disorders, which basically means that there's something wrong either with your with your collagen or the different components that make up your connective tissue, or with the way that your connective tissue works in your body, so people can

present with different symptoms and signs of these conditions, and oftentimes we can visually see that people that have hypermobility, meaning that their joints are very bendy. So interestingly, persistent pain is something that we really see a lot people who have e d S. They tend to accumulate so many injuries and have so much pain coming into their nervous system that the nervous system itself starts to become part of the problem, and the nervous system no longer

processes pain signals appropriately. The frequent injuries Kyle had as a kid, the continuing persistent pain, the flexibility, all of the symptoms Kyle had been showing for years. It just took a rig him to notice the fragility of his skin to be able to put all the pieces of the E d S puzzle together. So how common is e d S. It's really hard to say because we just changed the classification. For a long time, people said that it was one in three thousand to one in

five thousand people had this condition. A more recent study said it's probably more like one in five hundred that had hyper mobile e d S. Kyle suffered through nearly two decades of pain and confusion that pushed him to the brink of giving up and just becoming numb to the world. He seemed to always be injured in countless casts and walking boots. He was teased because of all of the injuries, pushing him to drop out of school.

He suffered through a scare with a tumor on a spine that took one third of his vertebrae with it. He pushed through all of these trials and misdiagnoses to still have a positive outlook and energy about him. How are you so positive? What do you credit the Kyle you are today? How have you overcome so much? M hmm. It's hard to say exactly why. I think this has kind of always been My personality is like very resilient

and not wanting to give up. And I've always been curious as to the wise of the world, and you know, why is this happening to me? And what is the best explanation for this? And I always wanted to figure that out. I feel like that kind of gave me the drive to overcome the limitations that these diseases put

on me. Limitations from his symptoms and stigma from other people, something Dr Bluestein is all too familiar with herself, because, like Kyle, she struggled with multiple symptoms before also being diagnosed with e d S. For me personally, I mean, I went through a very low point in my life psychologically because nobody believed me, including my own colleagues, and I had, you know, people say hurtful things to me, and I stopped bleeding in myself, and uh, you know,

so I know I've been there. Kyle has turned his life experiences into action, becoming an advocate for people suffering from similar illness and feelings of isolation that he had to endure. He's now working with Dr Bluestein to create a safe place online through social media so that other people's journeys can be easier than his own. It's unrealsome times, and I it feels like a fever dream. I still kind of can't believe that the things that I'm able to do. And to the people that think that social

media is just social media, it's it's not. When it comes to these conditions, doctors often don't listen to us. Unfortunately, a lot of the people in the community are gas lit and told that a lot of the symptoms are on their head and that they're they're not truly experiencing them. And so they've started a community on social media, and we've been able to have a lot of people in there, and people are getting answers and a lot of their

questions and concerns are being addressed. Social media is a lot more than just an app that you scroll on. It's a community at this point that we've built. What advice would you have for other parents who might find themselves in a similar situation. I would say, if it's your child, even if it's a young adult, even your adult child, be their advocate because they may not know how to do it. Speak up, ask questions. Do not be afraid because someone may have more medical background and

education than you do. Because there's something to be a mom, a parent, a dad, and you have this gut feeling and if you really feel like something's wrong, you've got to push and don't make people feel like you're crazy or that you're doing anything wrong, because this is I mean, this is your child, So don't give up. Keep pushing.

To find out more information on e d S, visit the Eiler's Danlos Society or Eisler's Danlos dot Com, or listen to Dr Bluestain's podcast Bendy Bodies with the Hypermobility m D wherever you get your podcasts. My name is Kyle Thompson and I struggle with a medical mystery for almost two decades until I was diagnosed with hypermobile Isiler's Danlos syndrome. On the next Symptomatic, Antoinette is constantly battling flare ups due to sickle cell disease, but none of

the treatments and therapies seem to help at all. Something else is at work. There are signs where you feel like, oh God, you want to die just if you put out to misery because the pain is so bad. Antoinette struggles with being ostracized by her friends while pushing through multiple life threatening trips to the e R hoping to find an answer to what's been ailing her. Symptomatic A Medical Mystery podcast is an original podcast. I Heart Radio

are shows hosted by me Lauren Bright Pacheco. Executive producers are Matt Romano and myself. Our EP of post production is Matt Stillo. Our producers are crra Kaiser and John Irwin