The Medical Detectives - Elizabeth's Story: The Generational Mystery

Episode Date: September 17, 2025

In this powerful episode of Medical Detectives, Elizabeth traces an intergenerational medical mystery. This story starts not with our guest, but with her mother, whose lifelong health concerns gave a clue into Elizabeth's own medical mystery. After years of labels (hypothyroidism, PCOS, “degenerative disc disease,” postpartum depression) and a crucial clue everyone missed, one determined rheumatologist finally connected the dots to a rare genetic bone-mineralization disorder. Elizabeth describes the relief of a name for her suffering, the whiplash of treatments that helped until insurance pulled them, and the uphill fight to access the only disease-modifying therapy. Join the conversation! Have a medical mystery or story of your own? Send it to [e-mail]. ***The information provided on the medical detectives is for informational and entertainment purposes only and should not be considered medical advice. While we may feature licensed medical professionals, including doctors, we are not your personal doctors and no doctor patient relationship is established by listening to this podcast or interacting with our content. All discussions are general in nature and may not apply to your specific health situation. Always seek the advice of a qualified healthcare professional before making any medical decisions or taking any action based on the content of this podcast. Never disregard professional medical advice or delay seeking treatment because of something you have heard on this show If you are experiencing a medical emergency, please contact emergency services immediately or consult a qualified healthcare pro***

I'm going to give everyone a heads up before you listen to this episode that I am angry throughout it. So I do at one point say I will fight someone. And I just want you to know that I'm a lover, not a fighter. I just was mad. It was very mad. We do not condone violence. But I have to say, you know, I think.

this story is about a woman doing everything right, taking the fight to the very end, finding the diagnosis, and then hitting the brick wall. And I think we all know who the brick wall is. Yeah. I think if you've listened to this podcast long enough, you know the brick wall, you hate the brick wall, you want the brick wall to change. And with that, I think we should just get into the episode. Let's do it. Hi, Elizabeth. Welcome to the medical detectives. Thank you so much for joining us today. Hi. Thank you guys. Your story is a little unique in that it kind of starts even before you. So can you fill us in on your maybe family history of medical issues? Yeah. So my story starts with my mother's story, actually. When she was 13 or 14, she had her first.

surgery on her knee and the most traumatic part for her wasn't the surgery itself. It was her doctor scolding her and yelling at her because she had old joints. So like joints of an old person. And she's like, I'm 14 years old and I am asking him why this is happening and he is not giving me a response, but he is like scolding her for this. Why did he go sassy pants on a 13-year-old child for old joints? Clearly, I don't know. She also had a lot of different issues. She had lung issues when she was a kid, like right off the bat when she was born. And nobody really, you know, gave her any clues as to why she was having that. But she, stayed pretty active, did cross-country skiing, played tennis, swam, did a lot of different things.

And then into adulthood, she had total knee replacements, more surgeries. She had bone and joint related issues. And I think this is how they said it. But they took apart her Achilles to scrape out calcium deposits. And it was like gravel, apparently. she had bone spurs she had shoulder surgery and then she turned to retirement age and i grew up in wisconsin so she was living in wisconsin and it got to the point where winter was just too hard for her and all of these bones all of her joints like literally everything just hurt when winter rolled around so they sold their house and they moved to florida um total just a Just to back up, Elizabeth, so in case anyone has never had or heard of this condition,

but when you have calcium in your tendons, it's called calcific tendinitis, and it is extremely painful. For me, I see it most commonly in the shoulder, and people will jump to the ceiling if you like press on their rotator cap. The Achilles is another common place to get it, but it's very, very painful. And the fact that she has had multiple joint replacements and other issues, were they ever questioning why she had this? Did they think she had some type of rheumatologic condition? What were they suspecting?

Every time she would ask why, they just would tell her she had bad genes or just totally avoid the question altogether. She had asked why so many times. and she never got a response. They just said, you know, it happens sometimes. But she also had, like I said, some weird lung things. She had never been a smoker. She never had a reason to have lung things. But she had really bad lungs.

So that also was a reason why she moved out of Wisconsin because cold can be hard on the lungs. But yeah, she had asked what her root cause was. like a million times and no one would tell her. So then we kind of roll into my story, which also happened at the beginning of my time. So like I said, I was born in Wisconsin. I was the oldest of three. The start of my symptoms began as a baby. But the first symptoms were fairly insignificant. I slept a lot, like a lot. My mom didn't have any other children to compare. or two, so I slept when I was tired. I didn't get my first teeth until I was well past the age of

one. And when those teeth started coming in, they had no enamel. I don't know. My mom thought, so does that mean that they were soft or they were not white? How did that? I don't know. How did you know? I mean, this was 40, 41 years, well, 40 years ago. So my mom doesn't even remember she just knows that they told her that there was no enamel where I was born they didn't have fluoride in the water so they determined that that was probably the cause and um I I'm sorry to supplement um but yeah not having that enamel caused a lot of cavities still in my youth I needed a lot of dental work. I currently, I'm 41, and I have a mouth full of silver. My parents did everything to take care of my teeth. My mom really pushed hygiene, and I don't know. Our dentist said,

again, bad genes. Like, don't know why you get these cavities. I've also had to have teeth removed. I tried to get my dental records from my youth, and we'll come up to this at some point, But I tried to get them and I was not able to get them. So I'm not even sure how many times I had cavities, but I feel like every single time I went to the dentist, I was either getting a cavity filled or getting a crown or, you know, whatever. But I to this day have dental trauma and I don't like to go because of my childhood and having those experiences. Were you ever made to feel like, oh, you didn't do a good job brushing or you weren't flossing properly? 1,000%. I can't remember an exact period where my dentist was like, you're not doing a good job. But I do remember having that feeling. And maybe that was a feeling that I was bringing on myself.

Like maybe he just said something like you need to floss better. And it could have been super innocent, but in my head, I make it this big thing, and he's essentially putting me down. And obviously, I'm doing something wrong because I'm getting these cavities and I'm having these issues. Yeah. So I relate to this 100%. And I think it's also really hard.

When you get the feedback, you apply the feedback and nothing changes, right? So you're like, am I doing it wrong? Yeah. You just kind of feel like, is it my own lack of ability to do the thing? which is its own version of stress. Let's put it that way. Right. So I also started complaining about leg pain pretty early on.

My mom would say that I would be at the bottom of our stairs and just cry because I didn't want to go up the stairs because it hurt. I didn't really have the words to explain what the pain was or how it hurt. I don't really... How old? I was in elementary school. So, yeah, so I was very young, and I would just sit there and I would beg for somebody to take me up the stairs to go to bed or to brush my teeth or whatever. I didn't want to do it because it hurt. Did anyone kind of pass it off as growing pains?

That's exactly it. So my mom would take me into the doctor and he would say, well, growing pains. So she's of the age, growing pains. Yeah. And I just want to make this crystal clear, there is no medical condition called growing pains. That is not a medical condition. That is not a real thing. There is nothing that is classified as a diagnosis of growing pains.

Growing is not supposed to hurt. There are instances where you can get a tendonitis, where the tendon is attached to the growth plate, right? and that can cause some inflammation, but that is not associated with growing pains. Wow. And so I think because that just is in our lexicon, a lot of actual pain syndromes with kids gets brushed off. I'm honestly, so my mom, we kind of went through everything together just to make sure my story was like perfect, like the way that it should be told. And she was like, I am so sorry. Like, I feel like I should have advocated for you more.

And so hearing you say that growing pains is not a thing, I can just hear my mom listening to this being like, oh my gosh. What? Yeah. But she didn't know. She didn't know. And that's what I tell me. We didn't know. She didn't know.

So, yeah. But I know that her hearing that is going to be like, ooh. So my parents were normal, you know, typical throwing me into all the activities because I'm a kid, and that's what you do. Swimming, soccer, baseball, volleyball, like all the typical kid stuff. And I could not keep up. I was always the last one. I was slow. In gym class, I was slow running that mile.

I was the last one. It didn't matter how much work. I put into it because I was like I was pushing like I wanted to be first and I did not understand how I could put in so much work and not get there. It was crazy to me. I would forget my gym bag because you know going to gym was horrible for two reasons. I was either in pain or I couldn't do what the other kids were doing and I didn't understand why. Did you? ever feel excluded or maybe kind of viewed as less than because you were struggling to do these physical activities? For sure, for sure. I always felt kind of like, you know, I was the

last one picked. And probably because I couldn't do these things as fast as everyone else. I just couldn't. And then going into adulthood, I would purposely exclude myself so that I wouldn't have to have that, you know, where my friends are going on a hike or something. And I would be like, oh, no, I'm sick. I can't go. But it's really, I either cannot go because I know that it's going to cause pain. I cannot go because I know I'm not going to be able to keep up. Or maybe they don't invite me because they know that these are going to be the excuses I give. But yeah, definitely as a kid, I had so many issues with that, so many issues with just not feeling accepted because I couldn't do the stuff. And I will also add that I was like a chubby kid.

So constantly I felt and, you know, people would bring up maybe you can't do those things because you need to lose weight. Girl, I know that story. That story sucks. Yeah. So I was dealing with all of that, not being able to keep up, and then back to being tired. I was still tired. And I remember having these pajamas and they said, I'm up, but I'm not awake. I think it was probably nine or ten. And I got those pajamas and I was like, yep, that's me. And I remember my dad would come wake me up, talk. me to go take a shower and I would sneak into the bathroom taking my pillow with me and I would sit on the toilet, rest my head up against my pillow on the sink, run the shower water and just fall back asleep. And then he would come around again, knock on the door, tell me to hurry up. And that would be the sign where I get in the shower. So my nap is over. I need to get in the shower and actually go on

with my day. But that was me. Like, I was tired all the time still. And no explanation again. Do you think people thought you were lazy? What do you think people were perceiving this tiredness at? I thought people probably thought I was lazy or, you know, back to the weight. Like, I'm not doing all of things. I'm not participating in gym class or if I am, I'm not giving it my all, even though I definitely was. And then I'm tired all the time. So obviously, obviously it's because she's overweight. I also had, like, I would constantly roll my ankles and never any reason as to why, but it was something that would happen. My mom ended up taking me to an orthopedic surgeon, not because of my ankle, but because my knees were bothering me.

And my knees bothered me probably more than the ankle bothered me. But she took me to her orthopedic surgeon, and she probably did that just because at that point, she knew what she had been through when she was a kid, and she was like, okay, well, maybe we should get that checked. And they told me I had uneven knees and bowed legs. So at that point, I didn't have to run the mile with my peers anymore. So I didn't have to be the last one. I got to walk a mile after school. I got to do it at my pace, the pace that made me feel comfortable.

And I was like, okay, well, that's it. When you went to the orthopedic surgeon, and again, I have the luxury. I know what the end diagnosis is. What was the workup for the bowed knees? because that's a pretty red flag. I have no idea. My mom has no idea. We tried getting my records, and we can't.

There are none. So at the time, she was just like, okay, well, that explains that. And again, my mom is of the generation where a doctor tells you something, you just accept it. There was no Google. There was no, like, research, your own research. So doctors are telling her stuff, and she's just like, okay, explains everything, growing pains, bow knees. Like, we're good, okay. Can we just explain bow legs just a little bit?

Because I've heard that term before, but I'm not exactly sure what that means. And you did say it was a red flag, Aaron. So why specifically would it be a red flag? Well, you know, everyone has a little bit of a different anatomy, but when you're talking about your legs, it actually starts up at your pelvis. You have your pelvic bones, like a big ring bone. Then you have your hip joints. Then you have your femurs, your knee joints, and your tibia. And there are certain angles that should exist that help you distribute the weight of your body evenly. across all of those joints. So if those joints are not set at the right angle, then the weight is distributed in a way that's going to rub on the joints in unnatural positions. So the bode means that it kind of are bowed outwards. That's you either bowed legs or knockneys. We call them genuvaris and genuvalgus. Those are the technical orthopedic terms that we would describe. And so the reason why

we're concerned is, well, why did the bones form that way? Right. So this is a problem with the formation of the bones and the quality of the bones. So that's why I asked, because that usually will lead to a diagnosis, which could have been really helpful 30 years ago to Elizabeth, but kind of where we're at now, she just has a description of her legs, but no one did the research as to why her legs were shaped abnormally. Yeah, so that was my childhood. And quite honestly, I didn't really know any different. So this was all just normal.

Like everything was normal to me. At 19, I left Wisconsin and I moved to the East Coast. I was going to be a nanny. My nanny kids were a school-aged. So I would drop them off at school. I would go home, take another nap, wake up, pick them up from school, go about our day. I could never understand when living in New York. how my friends would just walk, they would be like, I'm going to walk to work, or take the subway

and walk another 30 blocks or, you know, whatever they did. I did not understand how they could do that. That sounded so painful to me. It sounded so exhausting. So I drove. I was a living nanny. So my nanny bosses, who are phenomenal, gave me a car. And I would be. the one who drove around Manhattan like it's totally normal and all my friends would be like you are crazy for driving and I'm thinking you are crazy for walking like what you could just drive they're just jealous I would love to have a car in New York I just I just couldn't comprehend it like it was crazy crazy to me so I end up moving back to Wisconsin and I end up meeting my husband A few months into us dating, I developed horrible, excruciating back pain, and I go to the

yard, and they tell me that there's nothing wrong, and they send me on my way. Did they x-ray you at all? Yes. And they were like, okay, you're good, like, whatever. So my husband and I, my boyfriend at the time, we figure it's a bed. So we buy a new bed because that's a solid idea. I mean, that makes sense. That's what we do.

At 27, 28, I am pregnant, the most exciting period in my life. I had been raising other people's kids for a million years as a nanny, and now I have my own. And I am excited. So I am pregnant, but I am tired. I am exhausted. I am beyond exhausted. Every single inch of my body hurts. It was 2012.

So I actually look this up because I've been saying it for a million years. It is the third hottest summer on record. So I am due in August and doctors are like, you're just in pain because it's hot. You're just tired because it's hot. You are just everything because it's hot. So drink some Gatorade, put your feet up and deal with it. And basically I am trucking through, but I am. am also going through some very stressful moments. We're buying a house and there's a bunch of issues

with that. My grandma, who is my best friend in the entire world, she is passing away. I am hugely pregnant. It is hot. All these things are happening and I am getting to be a little crazy. And I'm also like drinking so much fluid. So I'm also getting swollen. So I'm swollen. My knees felt like jello. Like my brain feels like it's on fire. I am experiencing brain fog to the 10th degree. I am just miserable. And I was 37 weeks.

I show up to the hospital or show up to the doctor. And the nurse can tell, like, she is not well. We need to deliver this baby. And my son is breach. So we know he's going to be a C-section. And she's like, we should be. just do it and the doctor's like nope there's no reason to like it's fine we need to wait we need to wait until at least 38 weeks so thankfully my son was like my mom is miserable I got to help her

and my water broke at 37 weeks and four days so I had a baby and just when I think that things are going to get better because I'm no longer pregnant. Summer is winding down. Like, things are going to be better. I assume everything is going to get better. And it doesn't. I should probably also add that during my pregnancy, I was diagnosed with hypothyroidism. And at first, I was like, okay, that explains why I'm tired. That explains why I hurt. They're like, it's fine. It happens in a lot of pregnancy. So here's a pill. Just go on your way. And so I did. And then after having my son, I'm thinking, okay, I'm just going to continue this pill. And then I should be done at some point because I'm going to be postpartum. You know, it's going to be fine. And I won't be hypothyroid anymore.

But that wasn't the case. I am trying to nurse. There's not enough milk. I am so tired, beyond tired, like any sort of tired I'd have had before, like this is 10 times worse, a hundred times worse. I had hypersomnia. I had anxiety. What's hypersomnia? Where you just fall asleep. You're just so tired.

Yep. So it's like the opposite of insomnia. Yes. Yes. I couldn't remember things. I couldn't remember my address. I couldn't remember my brand new. son's date of birth. I couldn't even remember like normal everyday works. Like just things were

not coming to me. I had psychosis. I would just stare for long periods of time. And I assumed it was because I was tired. I assumed it was because, you know, I just had this new baby. I assumed that this is what people experience when they're tired. How did your psychosis manifest itself? So I had kept a journal and I don't know I don't know if this is what people in psychosis do if they just write things down but I was just writing everything down and I was paranoid I was withdrawn I would just stare off I assumed that people were out to get me and I did everything for my son so like even though I say all of that my main focus was him and I was protecting him. So I was keeping journals of just like all of the things. And I

ended up getting rid of those journals like maybe two years later. So I don't have the details, but it was hard for me to even just see the not even like open up the page just to know that it was there was like trauma to me. So did your husband recognize that at the time or? Or was this something that you were aware of that you were having these abnormal thoughts and mood? He knew that I was not right. He did not know the extent. He definitely knew that I was not in a good place. But he also knew me before I was in this crazy.

And he knew eventually I was going to snap out of it because, you know, this is just a postpartum thing. that's what I was going to ask is if it kind of got chocked up to postpartum for sure I went to the doctor and they prescribed so loft they checked my thyroid again and it was abnormal and they told me to come back in six weeks and they recheck it actually they told me to go see a doctor in six weeks but prior to my being pregnant I had not seen a doctor in years like since I was 18 because the ACA was not a thing. So I was not on my parents' insurance until the age of 26. I was having to pay for horrible insurance.

So when I broke my foot, like, that's why I didn't want to go because I knew I was going to have to pay for it, like outright because I didn't have access to insurance. So when I had my son, my OB was my only doctor. He was the only doctor who was treating me at that. point. So when they told me to go, you know, check your thyroid in six weeks and then, you know, whatever, I didn't have a doctor to follow up with. So he was, he was my doctor. And he ended up running another test. So he ended up running thyroid labs again. And I also want to add that he was only checking TSA, but get into that. So he is checking my thyroid and,

he says, well, I don't do thyroids is what he literally told me. I don't do thyroid. You're still hypothyroid and I don't do thyroid. So you need to follow up with an endocrine. And he wasn't going to increase my medication. And I'm like, what the fuck, dude? You've been following my thyroid for the last year. And now you're just going to abandon ship.

And all of a sudden, he doesn't do thyroid. Yeah. And I am the most vulnerable state because I know that I am. not good. And so I call around. I'm trying to find endocrines. I'm trying to find somebody who will check my thyroid and increase my medication. And nobody is taking new patients or they're not taking patients with my insurance, like whatever. So I ended up calling my OB back. And I get his nurse, Liz, who I credit was saving my life because I literally thought that I was done. I was in such a bad mental state.

I would never hurt myself, but I did not think that I was going to make it out alive because of the state that I was in. Mentally, I was just a hot mess. Physically, everything hurt. I am like, there is absolutely no way that I am going to survive this. And Liz heard me and she was like, I'll call you right back. Let me make some calls. And literally she called me right back. And she was like, I have a doctor's appointment for you in 15 minutes. Can you be there? And I was like, yes, I will be there.

And it just so happened. It was like a mile away. So it was right down the street. I show up. And the doctor runs a whole bunch of tests. And she comes back. And she was like, Okay, we have your answer. You have Hashimoto's. You are hypothyroid. You are vitamin D deficient. You're anemic and you also have PCOS. And I'm like, okay, finally. Like maybe that explains everything that I have had for the last, you know, year. So there's a couple tests that are kind of weird that she doesn't include in her diagnosis. One of them was, alkaline phosphatase, it was pretty low, but she had said, don't worry. We only worry about alkaline phosphatase if it's high. Because that was part of the liver panel. Yep. So we start metformin, increase thyroid meds, start taking all this vitamin D, put on an iron

supplement, all these things. I am like, I am going to be fixed. like everything is going to be great. She also tells me to stop nursing because she is convinced that the nursing is contributing to my anxiety. It's also contributing to some weird carpal tunnel that I'm also experiencing. But she tells me to stop nursing and I was like, oh, okay. Can nursing cause carpal tunnel?

Well, certainly if you're holding the baby, you know, an awkward position. that can you can have, you know, like temporary inflammation of your median nerve, but that's not something that breastfeeding itself does not cause carpal tunnel. Okay, I just want to call that one out because that felt like a wild car. Well, that doctor, so I did not love that doctor. I saw her because she was, you know. On your insurance. I guess. Well, because I was called in a favor. So I was like, okay. Oh, gotcha, gotcha. And she seemed to dismiss a lot of the things. things that I was saying, because I did talk about what I was experiencing mentally. So she did dismiss a whole lot. And at the time, like, message boards were pretty popular,

like baby center message boards. So I took all of my symptoms. I took all of my labs. I dumped everything into this message board and let everyone have at it. And I had people freaking out. And there's one person who's like, you have low alkaline phosphatase. I think you have hypophosphatia. And I was like, I quick Google that. I'm like, I don't have that. It's a genetic condition. But I have like 10 people saying, I think you have Hashimoto's encephalopathy. And I am like, I don't know what that is. Let me Google that. And I was like, oh my gosh, I could have Hashimoto's encephalopathy. I've never even heard of that. I'm, I'm, I'm Googling it now. So Hashimoto's encephalopathy is a rare neurological disorder. It's autoimmune sort of related

where the immune system causes brain inflammation. So like Hashimoto's, instead of attacking your thyroid, it moves on and essentially attacks your brain, if I'm understanding correctly. And that's what happens when you have super high antibodies. So thyroid TPO antibodies. And mine were 13,729, which is apparently very unheard of. And your doctor saw this when she ran that analysis, correct? And she literally said that this is a lab error. This cannot be correct. I've never seen anything was high. And I was like, okay, but. To be honest, it's fair to say, but then you have to repeat the lap. Yeah.

Yeah, do it again. She did not. Of course not. No. So I then researched the Hashimoto's encephalopathy, H.E. community. And they are like, yes, this is everything that we've also experienced. So they found me a doctor who is A.T. illiterate and I made an appointment. But again, ACA is not in effect. So I didn't have health insurance

and I knew that this was probably going to be a costly appointment. So I had to wait until January of 2014. I think that's when the ACA went into effect to see her. So at this point, we are well past a year and a half-ish since my son is born. And at this point, I am returning to normal. And she sees me. We go through that whole notebook that I no longer have. We're doing memory tests. We're looking at all of my labs.

And she is like, this is consistent with someone who has Hashimoto's encephalopathy, everything here. Let me run your lab. so she runs them and my TPO antibody is at that point are 500 which is significantly lower and she is like okay well based on that and the fact that you are presenting as normal quote unquote normal because at that time I was she's like just come back if you have any symptoms if the symptoms come back and I'm like okay bet it's fine great so that was just does this explain the like broken bones and stuff as well no so so this this isn't it or is it part of it no no oh okay sorry no it's it's a lot

so I had explained to her that when I was sick it was like I was going up up a hill. Like, I was just getting more and more, I don't want to use the word crazy, but I was getting more unstable. We'll say that. Your reality became less and less clear. Yes. And then all a sudden, I reached this peak and I had like one really, really, really, really bad night. And then it was like, I'm going back down the hill and I'm returning to normal. And that's really what it was. It was like, step at a time, I was reclaiming myself and wasn't really an explanation for it, had no idea at that time. But yeah, that was that. So it was more like a blip experience versus like a consistent problem. Yeah. Not a blip in that. It was like time wise it was long, but it peaked and

valid. Correct. Correct. So now I'm like, sweet. Got the brain thing. figured out, but my body is still trash. And I'm 30 now and I am in severe pain. I do have a primary doctor. He is ordering an MRI and I have degenerative disc disease. And I'm like, oh, great. Don't know what that is. But he's like, okay, well, do some things, lose some weight. I am like, I'm going to get my autoimmune disease, Hashimoto's under control, I'm going to get my PCOS under control. I am going to do all the things to alleviate this so that maybe my back will be better. But then I guess, you are the second guest in a row. Also, young woman diagnosed with degenerative disc disease, which I pointed out last time, should also set off warning bells because that does not, that is not right.

it's not a thing that just happens so funny enough like I had not listened to that episode yet but my mom did and she was like it sounds just like you with degenerative disc disease and I was like I didn't even remember I had that diagnosis so I had to go through and pull up all my x-rays all my MRIs like pull up everything and sure not there it was and she had remembered it and she was like she brought it up to me but yeah at that point I get pregnant again so I'm not fixing my PCOS I'm not fixing my Hashimoto's like I am pregnant but at this point I am seeing a functional doctor and my functional doctor is like I think you have MTFR wait MTHFR yes oh the mother okay yeah yeah people call it and you might have to believe this but I people who have this gene call it the motherfucker gene.

Yeah. So he's assuming that I have that because I have depression. I have the anxiety. I don't even remember what all contributed to that thought process. But he is like, don't take a prenatal. Don't take prenatals. We're going to put you on a certain bunch of vitamins. So we'll do vitamin D.

We'll do calcium. We'll do folate instead of folic acid. but like we'll just make this whole mixture and I'm like okay so physically my body still hurts but mentally I was good and I was very concerned that I was not going to be I had told on my friends you know if you see me becoming a little unstable you have to let me know you have to let my husband know we need to get in touch with this doctor um good on you for having those conversations Those are not easy conversations to have, by the way. I did not want my kids to grow up without a mom.

And I was very afraid that if it were to happen, like, I just would not be here because that's how bad it was. So I needed to make sure that everybody knew where to take me. But mentally, I was good. Bones, not great. I start feeling like, and this is the only way I can describe it. is like if you were to take a wishbone and dry it out and it's extra dry you left to sit out for like a week and you pull it apart and like the threads and fibers of the bone just kind of like break apart instead of like break I am feeling like the fibers of my bones are just peeling

apart in my legs like like you can feel it inside of you that is what I feel like and so you can feel it your bones, right? Yeah. So I am explaining this to my primary and he's just like, I don't know. He would run labs and literally everything. He would look at the labs and he would be like, oh, everything's normal. And again, that low alkaline phosphatase is low, but at the same time, it's not high. So I'm seeing it and seeing it as low. And I'm like, what? whatever, it's not high. I'm not in liver failure. And this is, I talk about this all the time about the reason why you order a diagnostic test is to answer a question. So if they were ordering liver panels to check your liver and they were looking to make sure you weren't in, you know,

liver failure, your AST and your ALT are not high, then like, okay, that's what, that was our question, but they weren't ordering that lab to check what it's also used to check. And so they just never considered it, right? They never even went down that path as to, well, why is it low? Right. I just want to say that you describing your bones, like peeling apart and the fiber is breaking, that sent a shivered down my back. And it's very disappointing that that didn't do the same to the doctor because that is a very specific. an unusual description. Yeah.

It is not something I think most people would even ever think to say. So it's, it's because it's so specific, that's why it's so alarming. Yep. And, you know, like my husband, he was like, okay, well, it's shin splints. And I'm like, well, I think it's fibro. Like, I don't think this is shin splints. Maybe it's fibro. My grandma had fibro.

But my doctor was like, hey, let's do this. Let's change your antidepressant and see if that changes anything. And so we do. And we kind of talk about weight loss and like what steps to take for weight loss. Nothing crazy at that time. But he was like, maybe it's because, you know, you're carrying this extra weight on your joints, on your legs. Like maybe that's a thing. So we talk about that.

But then I end up getting pregnant again. And this time, it is a molar pregnancy. So I am experiencing, so when you have a molar pregnancy, you follow up every week with blood work to check your HCG and make sure it's going down. So I am stressed. If it doesn't go down, I am thinking, okay, it's going to be cancer because that's what happened. What is a molar pregnancy? I've never heard that term before. So a molar pregnancy is when the egg has no DNA.

So non-viable pregnancy. Okay. So the sperm meets the egg and the sperm duplicates and basically turns into a tumor. And then if not caught, you know, pretty quickly can spread to the lungs. It can cause cancer. Yeah. So needless to say, I was stressed out. I was very stressed because at that point I'm like, well, I'm medically complex. I get all these weird things. Of course, I would get cancer from this molar pregnancy. I'm also dealing with a bunch of other things. So I'm like just stressed to the max. And my doctor, my functional doctor was like, I think we should try something called. low-dose naltrexone. And I am like, okay, like my antibodies at that point, I think they were like 9,000. So I was reaching up again to, you know, a point of this may not be good for my mental state

as far as my thyroid goes. So he was like, let's try low-dose naltrexone. And so I start the low-dose naltrexone. I'm starting to feel like a little better. Like my body is starting to feel better. And I'm not really sure how to describe it. Like it just felt good. Like I wouldn't, I would always say that I still had pain, but it was stable pain. It was tolerable pain. For the audience members who don't know what naltrexone is, it is the same medication as narkand. So the medicine that we use to treat opioid overdoses, but what we have found is that in low dose amounts, it helps with pain. And so it's a non-opioid kind of pain relief, and it has been used very effectively in patients who have been diagnosed with fibromyalgia, with Ellers Danlos, who have just had pain that is not responsive to traditional means of pain relief. So I guess I don't know the capabilities of functional medicine doctors.

I've really only known pain management doctors who are anesthesiologists, the ones really prescribing low-dose naltrexone. So I didn't even know a functional medicine doctor would be able to prescribe something like that. I actually have a couple of friends who are on it for autoimmune stuff as well, not in the conditions that you've already listed. So I think it's pretty common. And would rheumatology then be able to prescribe it as well?

any MD is able to prescribe any pharmaceutical. So, yes. Okay. Yeah. And at that point, I'm like, okay, great. I'm back on track. And I found a solution. Yeah.

I got this autoimmune disease under control, which is all I want. So I'm ready. I'm like, I'm going to lose weight. I'm going to get healthy. But then I get pregnant again. So we are past the point where I am no longer. a concern for molar pregnancy turning into cancer. So I am good there. I'm still seeing my functional, so he is still thinking MTHFR gene mutation. So we're not taking prenatals.

We're just doing the whole vitamin thing. Baby's born. For the most part, delivery was like unremarkable. I did bleed heavily and unexplained for 16 weeks post her birth. I also develop this very weird new symptom and my hand is so incredibly itchy. That's so new. It's not like anything else we've talked about. That is correct. So my hand is super itchy. My doctor, my primary is like, let me give you some eczema cream. I think. it's just eczema. So he gives me a steroid. I go on my way and I think everything is good. At that point, I'm running maybe on a three or three-ish for the pain scale of 10, but I have some yuck, icky days in between, still going to the doctor, still running the labs, ordering the

x-rays, the MRIs, all the stuff. Things are still popping up. But nobody really explains any of it. And at that point, I don't know if it's because I'm a mom or if it's because I'm a woman. I don't know. You just deal with the pain. You still carry it with you, but you persevere. So you just keep trucking. So I do that for several years.

But the pain gradually starts coming back. And at that point now, we're into COVID. and I am struggling. I'm the heaviest I have ever been. I have incredible chronic pain. The itchiness of my hand is so awful that I am gnawing at my hand, like literally chewing the palm of my hand to try and get relief. And at that point, I see my doctor who tells me like, okay, well, you need to see a dermator. dermatologist. And I'm like, okay, cool. At the same time, I am thinking maybe all of this physical pain is manifesting itself. Like maybe it is a sign of my stressful job. And maybe I'm just experiencing depression and it's just manifesting itself in this way. Like stress hives.

Yeah. Yeah. So basically my husband says, like if you're experiencing, this, just quit your job. And I'm like, okay, I will quit my job. Maybe everything will fall into place and I will just get better. But newsflash, I don't. I am still gnawn at my hand, still chubby, you know. I mean, to be honest, the only the only condition that in the top of my head that I think about itchiness is sometimes with anemia, which I think you said you had. that. But I've never heard it to the point where people are gnawing on their hands. It was bad. So I bring it up to my doctor. He's like, you need to go to a dermatologist. So I'm like, okay. So I go to the dermatologist. And I am in there maybe two minutes. And she is like,

yeah, this is not me. You need a rheumatologist. She's like, this is not exma. This is not anything I can help you with. Go to a rheumatologist. So I'm like, okay. So in the meantime, I'm talking to my primary and I'm just like, I need to do something. Like, I need to get my body under control. I had been watching TikToks of all these women who are on Manjaro for their PCOS. And I'm like, I need that. Like, I need that. I had tried every single diet there could be.

I can't do a lot of physical activity because it's painful. So I'm like, get me on Manjaro. And he's like, gotcha. Let's do this. And so I start Majaro, see a rheumatologist for my itchy hand. And he is like, okay, let's start at the beginning. Like, let's go through your medical history. I did not bring anything to that appointment.

Previously, I would bring a whole book of all my labs, of all of the things that I had gone through. And I was totally unprepared. I was not prepared at all because I was just thinking here he is. He's just going to tell me like, you're chubby, like lose some way. You have anxiety. I had been hearing the same thing on repeat forever that I was just like, whatever, I'm not even going to try. So I go up to this appointment and he looks at my hand and he's like, okay, well, I definitely see something. you have some sort of rash.

He's like, I think it's psoriotic arthritis. But why don't you go through your medical history? And I'm like, oh, gosh, where do I start? So I am running through. He was like, do you have anything like weird that we could talk about? I like this guy. You're like, well, sir, let me take a seat. And so we're going through everything.

like I have all these x-rays. He's pulling them up. He's like, what about labs? Do you have any weird? Anything show up oddly on your labs? And I was like, well, I have this one low alkaline phosphatase. Everybody tells me not to worry about it because it's low. It's when it's high that it's an issue. And he's like, okay, that is weird. Hold on. And he left and he went and got a ultrasound machine and he brought in into the office and he starts going through my extremities and I'm like this is weird no one has ever done this before this is not this was not in the book this was not in the plan for today and he's going through everything and he's like you see this this is not normal and I'm like okay but what are we looking at I don't know and he just kept saying like this is not

normal this is weird and I'm like okay well what is it and he's like explain to me what you're feeling. So I'm telling him, you know, I got the weird fibers in my legs. I have major swelling in my hands and especially the hand with the rash. So my joints are like big. I can't even get my wedding ring off at this point. My feet are constantly swollen, but I don't know that they're constantly swollen. I just think they're normal, but he's like, is this how your feet usually look? And I'm like, yeah, like a normal foot. And he's like, no, that's swelling. But he's going through and he's like doing all these things. And I still don't understand what he's doing. But he is really taking the time grabbing my medical history, my mom's medical

history, my grandma's medical history, you know, the one who had fibromyalgia. He's also looking at my sedimentation rate, which has always been high. And everybody is like, it's fine. You're fine. There's no reason for it to be high. There's no A&A showing us that you have. anything, you know, other than Hashimoto's. And he's like, I want to run some tests. And I think that you might have something called hypophosphatia. And I remember when I was on the baby center, when I was on that, you know, message board, somebody had mentioned it.

And I was like, okay, whatever. But he's like, was that one comment? Yeah. You were like, meh, it's not that. It's not that. So he was like, I'm going to run a whole bunch of tests. We have a bunch of x-rays. We're going to do.

We're going to do a whole bunch of blood tests. We're going to check it out, investigate. So I go right to radiology. They run the x-rays. The x-ray tech even says, like, wow, this is a lot of stuff. Because they're, like, x-raying my whole body. And they're like, why, what is this for? And I'm like, I don't know.

I have no idea at this point. And then I go to phlebotomy and they are trying to find all these labs. Like, they don't know what to pull. They don't know what, like, they don't have the tests. They don't know where to send them. They don't know where they're coming from. They don't know how much blood to take. Like, these are some tests that apparently they had never seen before.

So they were like, I don't know. And I, myself was like, I don't know either. whatever, talk to the doctor. But they did what they could. And my doctor says, come back, see me in six weeks. We'll go over everything. So he had also started me on methotrexate for my itchy hand. And six weeks later, I go in. And at the same time, so I'm on Majaro. I'm on the GLP one. I'm starting to see some, you know, goodness, like I am losing weight, but at the same time, like my body's feeling different in a good way. Can't really explain it, but things are looking up. So I go back six weeks later and I still have the itchy hand and he's like, okay, we're going to start you on

Humera. He also says we broke the hospital system. because we caused so much chaos and disruption by not having the correct tests. Like I, apparently, they were so dramatic over in phlebotomy because they were freaking out. And nobody knew what they were. Nobody knew where they were coming from. Just so people have an understanding when you take blood, if you ever had your blood taken, right? Some are a red cap. Some are a yellow cap.

some are a blue cap. A lot of that has to do with the substrate that's already in the vial because it matters how you collect the blood. It's not just, oh, take as many vials of blood as you possibly can. So if you're ordering something very specific for, and this is what he was doing, he was ordering very specific tests because he was trying to rule out very specific disorders. You need it to be taken correctly. And so they don't have the right test tube, it's not going to be taken correctly. So that's probably what caused the chaos. Yeah. So he brings up that we're just going to discontinue testing for hypophosphatia. And at that point, I was like, okay, well, fine. I don't know any different. I don't know why he just stopped. I have some

ideas as to why he stopped um but yeah ideas i want to know so i think i was just so expensive at that point and i probably have this whole background of all these issues coming forward where the hospital was probably like why are we testing her for this like this is so rare she probably doesn't have it she's probably a hypochondria maybe so just we're giving into that so like, we're not going to go above and beyond for her. He has never said that, but I have been, I think that that might be the case. And he really didn't give me an explanation. And at the time, I didn't ask for one.

Like, I didn't, I was just like, okay, well, I don't have it. So, you know, whatever. So I am now on Humera and we're no longer looking at hypophosphatiaia. I'm on Humera and the Manjaro together. and I am feeling phenomenal. Like, I am feeling the best I have ever felt in my entire life. And I am feeling like I can do all the things. So I'm going to do all the things.

I am like, okay, I don't know how long this is going to last. I am going to plan. I always wanted to plan another East Coast trip. I wanted to take my kids. I wanted to do this road trip. I, you know, brought my mom. So we traveled the East Coast. We're doing this whole tour.

And I'm walking. So, like, obviously we're driving to all the places. But once we get there, I am walking. I am doing everything that I had never, ever thought that I could do. I know that feeling so much. I'm going through it right now, and it is, it's so freeing. Like, you just, you want to do literally everything. And you don't even want to sleep because you're afraid if you go to sleep,

then maybe you wake up tomorrow and it won't be the same, right? Like, it is. if you haven't experienced it, it's hard to describe it. But I so get that feeling that you are acting on. Yeah, it was, it was incredible. It was so great. Like my mom would even, she would, we're in Washington, D.C. And she was like, should we take an Uber?

It's like a mile and a half away wherever we're going. And I was like, it's only a mile and a half away. Like, we could do it. And she was like, okay. And my kids have little legs, but I was like, we're doing it, guys. Like, it's always, I can do it. Yeah, so we're doing all the things. My rheumatologist, well, I actually should back up.

I start having some shoulder issues, which are kind of weird. Right before we leave for the trip, like I develop some weird pain in my shoulders. But again, I'm thinking it's my bed. So I am buying new pillows. I end up getting a new mattress, one that goes up and down, because, you know, I'm at that point in my life. And my rheumatologist puts me in OT because he's like, I don't know, we did some x-rays, MRIs. He's like, it's just rotator cuff. Like you have some wear and tear and your rotator cuff. And I'm like, okay, but this is really, really painful. And so I'm doing

OT, doing all the things, still taking the Humera, but then all of a sudden insurance is like, note the Humera because we have this generic that just came out. And it's much cheaper. So we're going to put you on that. And note to the GLP one, note to the Maduro, because you are not diabetic. And so we're going to take that away too. So I am not great. I am in so much pain, back to it. It was awful. Every day is like a five or six. I'm getting out of bed.

I'm having to hold myself up against the wall just to get stable. I'm having balance issues. The souretic arthritis is still there. So he changes it. Now we're being put on Enbrel. I also have this and you've never had you've never had a biopsy confirmation of psoriotic arthritis no you know what's wild to me about all of this is that like you were managed you were managed you were in a place where you were fine not fine but as fine as you probably could get yeah with medicine right and because an insurance company who knows literally nothing about you or your diagnosis probably isn't even medically inclined decides me Do you really need this? These lips it away from you.

I don't care. You know what also is expensive? Going to the doctor many, many times to try to figure out what your issue is, whether than just being on the medication that helps you. Yep. And when those things were taken away from me and they were pretty much taken away at the same time, I ended up with shingles. Oh, my God.

And in my mind, it's pretty obvious as to why. Like, my body is just like, I'm doing so well. bam and I'm feeling like a constant like pretty much a piano playing on my legs um constant and I like just vibration if there's not a piano playing there's like this bolt like every second in my foot like it's very very frustrating um are you sleeping no no and thankfully I got that bed you know that goes up and down so I can put my feet up. God, I love that bed. I have that bed too.

It was the best. It was the only way that I could get rest is if I, like, propped my legs up. Sleeping in that zero gravity mode will change your life. But, yeah, I have shingles. I'm put on gabapentin, and I'm told, okay, well, we're going to calm the nerves with this gabapentin. It does not. My rheumatologist also tells me that he is leaving. the practice. Of course. Just time it all together. At our last appointment, he brings it back

around to my low alkaline phosphatase and suggests my next doctor look into hypophosphatia. And I am like, you are going to be my next doctor. I am going to find you. I know he has a non-compete. I know he has to be a certain number of miles away. So I'm cold calling doctors offices. And I'm like, is this doctor starting with you? And finally I get to him. And he's the first doctor who's ever listened to me. He's the first doctor who's like, I'm going to help you. And I just love the tenacity of like, I'm a cold call. It's fine. Yep. I was that crazy person. And it got to be, though. It's a full time job getting your health taken care of sometimes. Yeah. So I schedule an appointment with him literally. the first week, I think he was there, and I schedule it for 8 o'clock in the morning. I get a phone call. First of all, he's over an hour away. And I am like, okay, I'll schedule this appointment for 8 o'clock. But I get a phone call and they're like, can you come at 7? And I'm like, oh, that means I got to wake up at 5 o'clock. It's going to be horrible.

They don't give me a reason as to why. But I'm like, okay, whatever, I'll be there. We talk about Embril, not working for my psoriotic arthritis. I'm also having pretty severe pain. So he puts a plan in place to try and get me back on Majaro. And he also, like we're talking about that instrument, the piano playing in my leg. He's like, I don't know what that is, but we're going to draw some more blood. And I'll follow up with you. So I leave that appointment.

Like, it's a pretty normal appointment. Just like, you know, checking everything out. But the next day, I get a phone call from him, not his nurse, not anyone in his office, him specifically. And I am like, okay, what's up? Like, am I dying? And he says, I met with some folks. And we all agree that you have hypophosphatia. So the reason my appointment got moved earlier was because.

after my appointment at 7 o'clock in the morning, he was meeting with these hypophosphatia people, this whole team, to go over my case. And he didn't bring it up at all in this appointment because he didn't want me, I think he didn't want to let me down if nothing came of it. But he's like, we think you have hypophosphitia. And there's only one medication for this. So we're going to get you on it. It should be easy.

There's only one. it's going to be fine. This will help alleviate all of your bone pain. It will help with your shoulders. It will help with all the things. So we're going to work on getting you on it. And this medication is called Strenzik. And I don't want to say like, I didn't believe him at that point, but there still were no, there was no concrete evidence that I had hypophosphatia. And I felt like I've been down this road for so long that like, okay, even though you're saying I have hypophosphatia, there's nothing telling me that I have hypophosphitia. So I'm just like, I think it's a really common feeling with anyone who's been misdiagnosed

or been disbelieved at the doctor's office to when you finally get to the right diagnosis. You've had the wrong diagnosis so many times that it's impossible to like accept it. I think that's a normal human response, right? It's hard because at this point, you don't have that strep test smoking gun, right? To say it's hypophosphitation. Yeah. I also feel like I'm reading some subtext here that maybe this doctor never told you, but I bet you he's still pissed that they didn't continue the testing the first time.

I don't know if he ever said that to you, but it feels like if the first time you see him somewhere else, he pulls this, it means it's been in the back of his head. And now he was finally in a position to do something. Yeah. I am pretty sure that he felt that way. Literally at that last appointment where he told me that I need to circle back to that with my next provider. I went, there's sequencing. It's a genome test. And I went and ordered that. And I was like, okay, we're going to figure this out. I don't need a doctor's order for this. I'm just going to pull this myself, pay for it myself. So that first appointment with

him. I brought one of the reports from there, and I was like, it doesn't say I have hypophosphitia, but it said I had osteogenes imperfecta. And he was looking at it. And I think in the back of his head, he was like, okay, well, osteogenesis imperfecta is very similar, but not the same. But that could be how the test is reading it. But it was. So the problem was something like, sequencing, which is really powerful because it gives you a lot of information about your genes, but it's also limited interpretations of those genes. So you really do need a geneticist or someone who's an expert in a condition to read it. It's great for getting the information, sometimes faster than you can get otherwise. But if you don't have someone who's really familiar with a

condition, it can be extrapolated just a little bit wrong because they don't take these three genes together mean X, right? Where like one gene alone means Y. And that's why anyone listening, if you get sequencing and you see something really scary in there, please go get someone who knows how to read genetics to translate that for you. In my head, I was like, he wants me to circle back. So what if I just show up to this appointment with the answer? Like, that's what I was thinking. But he took that information. He held on to it. Then he went to the meeting. Then he called me the next day. And he was like, we're going to start the process to get you on this medication called Strenzik. I call my mom.

My mom is like hypophysitia. She's like searching it. She's researching everything. I'm getting text messages at 2.30 in the morning. She's sending me all the articles. She's like, she's like, this is me. This is what I have. Like, not only do you have it, but this is the answer for my whole life at this point.

and she's just going, going crazy in a good way because she's excited. And I get my first denial for Strunzik. And at that point, that's when I figure out that Strzincke is very expensive. Of course it is. It is insanely expensive. And insurance does not want to pay for it because it's, It's over $2 million a year, I think. Every month is over $200,000, something like that.

Why? Why is, I'm Googling that. Why is this so damn expensive? Like, does someone, like, literally put gold in this crap? Okay. How do I spell this? Well, I think to be, to give a little background, before I actually go into what hypophosphatia is, When you started this podcast and said that you had bowed legs as a kit, anyone who has bowed

legs as a child, you must ask your pediatrician, could this be Ricketts? Ricketts is a disease where you have problems with either calcium, phosphate, and vitamin D. all of these three minerals and vitamin D as a hormone, they all work together to help create strong bones. And you can think of it like this. Calcium is kind of like the bricks to a house and the phosphorus is like the mortar. That's what keeps the bricks together. So even when you were talking about your bones feel like they're peeling away, it's because

you didn't have the mortar. and your bones were literally so brittle that they were like crumbling and feeling like they were falling apart. And then the Al-Q-FAS and the vitamin D, they're kind of like the project manager, right? So if you don't have vitamin D, then you're not absorbing calcium, so you don't even have the materials to build the house. And if you don't have the proper enzyme, the al-Q-FAS, you don't have the ability to mix kind of the bricks and the mortar together. So from the very, very beginning, when you showed up with painful bones, right, it was hard to walk upstairs.

That was one of the very first things you ever said. And then you showed a structural problem with your legs. The workup for those essential minerals and enzymes should have been the very first. first test that should have been ordered. Yeah, it wasn't. What was the name of this medication again? I need to see why it's so expensive. I'm sorry, it really bothers me. How do you string? So, S-T-R-E-N-S-I-Q. And my understanding is that it's so expensive because it's a rare disorder. And there's no competition. That is my understanding, but I have. I don't know. It's also dosed based on weight. And it's typically only given to juveniles.

So because these types of disorder should be picked up when you're a juvenile. Because you mentioned the teeth problems, this all is related. And unfortunately for you, it was a 40-year misdiagnosis when the signs were always there. Yeah. Yeah. So we go. for an appeal again on Strenzik and, of course, denied again. And this next time, my doctor is like, I'm going to order you a genetic test. And don't be surprised if it comes back as negative. A lot of people who have hypophosphatia don't always show up genetically. Don't be surprised.

Like, don't be alarmed. We'll figure it out. So I get the test. I take the test, and it comes back positive. I have hypophosphatia. And at this point, I am finally like, I have evidence. This is here. This is it.

Yeah. This has been my whole theory. Yeah. You're smoking gun. So as I'm doing more research into hypophosphatia, I'm understanding the issues with B6. I'm understanding that B6 levels, toxic B6 levels. So with hypophysitia, because you don't have that alkaline phosphatase, I'm not even sure how I'm going to explain this or if I'm going to explain this correctly,

but you don't metabolize B6, I think, or you have issues metabolizing B6? Erin, correct me if I'm wrong. Above my patron. You have to know everything, Elizabeth. I'm sorry. you have to bring it home from it. I mean, I will bring it home. It's something along those lines. And B6 toxicity can cause nerve damage. It can cause tingling. It can cause burning, numbness, hands and feet, balancing issues, depression, hallucinations. The psychosis, right?

One of our guests, the Mad King George, right? It's all coming back to me. It can cause all of these things. Like my whole life story, even the Hashimoto's encephalapathy, could have been because of B6. Because what is B6 in? Prenatal vitamins. What was I taking an abundance of prenatal vitamins? Even when I was nursing, I was taking prenatal vitamins. And I stopped nursing. So I stopped taking the prenatal vitamins. And that is when I started coming. down that hill. So it circles back to that. And we can't go back there. Like we can't determine, was it Hashimoto's encephalopathy? Was it B6 toxicity? But like my brain is like, was it? What was this all related? Um, so probably. Probably. Probably. Probably. I mean, you'll never

know for sure, but probably. Exactly. So my doctor submits. another appeal and it's obvious that I have hypophosphatia at this point. So we have the genetic test. Obviously, I'm going to get approved for Strenzeg. And it comes back denial. Again, because I don't have proof that I had it when I was a kid. So I am hunting, hunting down doctors. I'm posting on Facebook. Why the hell does that matter if you had it? as a child if you need the medication now that is one of their criteria is it has that is that I'm guessing because it's only I'm guessing because it's only approved by the FDA for pediatric indications and so they'd be using it as an off label for adults I'm you know I'm just calling

an audible on this but in that case it's just another loophole for an insurance company to deny something. And my question is, is how many people are like me? How many people had this, all these things when they were kids and where it's growing pains. Like, it's this, it's that. How many

people have been blown off and misdiagnosed, underdiagnosed, not given like alkaline phosphatase? It's not high. You know, I, and you had mentioned fibromyalgia before,

and I never like to diminish the pain and suffering that people, primarily women, who are diagnosed with fibromyalgia, have because it's important that they are diagnosed with something that is medically recognized, but I believe that many, many of those women just have undiagnosed other conditions that they just have not figured out yet, because it would be very easy to chalk up a lot of these symptoms that you are complaining to fibromy myelgia as just a catch-all. I also, I want to circle all the way back to that GLP-1 that you took because we've seen GLP-1 work great for a lot of people in the autoimmune conditions.

And it says to me, well, what would have been cheaper? I just like to point back to my point that I made all the way back then. I agree. That you were having results with this concoction, whether or not it was what is typically used to treat a condition, it was working significantly cheaper than this $2 million a year dose drug. Yep. And this is where I believe that what they're doing is actually creating not the problem solved

they think it is. It is going to cost them more money than to just give the people the medications they need. I've actually joked about that because I'm like, well, you guys took away what was giving me life, essentially. And so I had to go back to finding my root cause. And I found it. Now you got to treat it. And, yeah, they're, they're.

or not. I have, I posted on Facebook trying to find my childhood doctor. A friend actually gave me his wife's phone number, so I'm sending them a text message at 9 o'clock on a Sunday night with a breakdown of the last 20 years. And he does his best to try and find any sort of files that are left behind, but there are none. My dentist, a month before I was diagnosed, He retired, so there are no files there. There's nothing. I have nothing. I've contacted my high school. I've contacted literally every place that I could think of to get something to show that I had this in my childhood. And there's literally nothing. So I'm on this appeal. Just hanging on, just waiting, but I'm not sure what's going to happen. So that is my story.

that also it tells the story of my mom. My mom also has had low alkaline phosphatase for decades, and she also got the same response. We only look at it if it's high. She yesterday sent off her genetic test, but she has a high B6. She's had lung issues since she was a baby. And hypophosphatia can also cause lung issues. and she's had all of these things and she was a kid. But every single doctor that she's talked to about this,

they always think it's hypatemia and no one is familiar with hypophosphatia. So this is a new thing for her, too, to try and find a doctor who is literate in this sort of diagnosis. And she's older and she doesn't think that she'll be able to get the medication and would it benefit her now? to get the medication. I don't know. But I can't hurt. Have any of your children complained of any similar symptoms? Yes. So my kids have had weird things. Like I had two kids with broken bones. So I did take them to children's. We did do a genetic test. And they were all negative, which is incredible.

because it's a 50-50 shot with this one. So for them to come back as negative, especially with their weird little things that they have, growing pains for one of my kids. They don't exist. I thought for sure that someone was going to pop up positive, but they did not. Yeah, because even, you know,

you mentioned the possibility of osteogenesis and perfecta, which is another brittle bone disease, but it's a different cause. It's due to a mutation in collagen genes in your body. But these are children who sometimes they break their bones very, very easily. And sometimes when children present to the ER, the parents can be mistaken for child abuse. Because, like, well, how did they just, you know, break their bone by, you know, walking or something that's so, so minor? So there are really big implications to having the right diagnosis.

And I'm relieved for you that you know, it's not, not all of our guests actually get to that root cause, that disease origin story like you have. And I think what's probably the most frustrating thing is you can do all the things, check all the boxes, and yet you still don't have access to the treatment. right there's still someone out there who gets to decide whether you're worthy or not that has nothing to do in relation to your actual medical need for it yep it's so frustrating a lot of anger this episode elizabeth i am truly sorry that you do not have the approval yet for the medication you need we have too many people in this world who have financial issues because they are sick and that is unfair and I will fight anyone who disagrees like literally we'll fight you I've been doing strong man I'm real strong now I will win she's very

strong learn I will I will fight you well Elizabeth thank thank you so much for for taking the time to share your story there are so many themes that are universal to people who are struggling with getting that diagnosis. And please keep us up to date. We are all rooting for you to get that definitive treatment. Well, thank you guys. Thank you for letting me share my story. So that episode really frustrated me

because I think it's a position that more people than we probably admit are in, where there is some type of medical solution, but it is out of reach. And an alternative solution that may not be the perfect solution is also in reach, but then also not covered. So we have people just kind of running around untreated or left to financially figure out how to pay for a treatment. Yeah. And I think part of that is for most insurance companies, people are changing. jobs every couple of years. So they have no incentive to see the long-term benefit for the patient. They only care about the now, what's happening right now. So if you are costing them

right now, they don't care what you could theoretically be saving them in the future. And I mean, I can't imagine how frustrating it is to try and keep providing the documentation that these insurance companies they're asking for, and then they just keep moving the goalposts. That's exactly what happened in this situation. So fortunately, we are in a system where we have a entity that has more power than the physicians, which just doesn't make any sense. Yeah, it doesn't. Actually, our producer Molly shared with us at the end of the episode that there was a law

passed, and I think we did discuss it on our previous episode, where companies could charge whatever they wanted if they were making medications for an orphan drug. But that has now produced a situation where these companies have no cap on their medications. So yes, they end up recouping their cost that they initially invest in these orphan medications, but then it becomes just like a money grab. Because let's say a company puts in $20 million to develop an orphan drug. You know what? They should get that money back. They should make profit off of it. And they definitely should be able to continue to make profit that drug for as long as it's sold. But there is no doubt in my mind that there is at least 20 people

on this medication. And in one to two years, they have recouped all of their costs. And there is no incentive for them because legally they don't have to make those drugs affordable. So then there's a whole system of people that just simply cannot get their drug because it has been price so astronomically high, even though the company has long recouped all of the costs of the initial investment. Yeah. And listen, these are much larger issues that play with pharmaceutical companies. And we need pharmaceutical companies to make new discoveries and create new drugs. And a lot of the research that is based upon is from basic science research that is funded through government money. That is what the NIH is for. And the reason why America is number one when it comes

to new pharmaceutical innovations is because we as a American public have financed all of the risky part, which is the basic science and the early scientific studies through NIH money. And that's why people are so upset that there's all of this cuts to the public funding for the NIH, which is the Kickstarter of all of these discoveries. And I think there's got to be some type of control on this. There has to be some type of advocacy for the people that need these medications, because right now it's being held over our heads and be like, oh, you want this? I hope you can pay me all your money. And people are choosing because it is such a difference to have these medications in your life, to go into debt, to sacrifice, to really live much financially less free lives solely so they

can access a medication that makes them be able to feel some sense of normalcy that is only expensive in some cases because it can't be. Well, I feel like we're going to continue to have this debate. Yep. The brick wall was insurance if you're still curious. If you enjoyed this episode, please, please, please leave us a review, a comment. We love reading them and hearing them. I have gotten a couple DMs from y'all this week, and it made me literally feel like over the moon, excited and happy. And as always, if you think you have a story that the world needs to hear and might help other people find out what's just going on with their bodies, you can send that to. Aaron, I always forget it.

I'm the worst. Stories at the Medical Detectives Podcast.com. She's a gem, this one. Well, thanks for sticking around with us, and we'll see you next week. See you next week, guys. 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 email it to stories at the medical detectivespodcast.com. The information provided on the medical detectives is for informational and entertainment purposes only and should not be considered medical advice. While we may feature licensed medical professionals, including doctors, we are not your personal doctors and no doctor-patient relationship is established by listening to this podcast or interacting with our content.

All discussions are general in nature and may not apply to your specific health situation. Always seek the advice of a qualified healthcare professional before making any medical decisions or taking any action based on the content of this podcast. Never disregard professional medical advice or delay seeking treatment because of something you have heard on this show. If you are experiencing a medical emergency, please contact emergency services immediately or consult a qualified health care provider.