The Medical Detectives - Jill's Story: The Shrek Disease

Episode Date: March 19, 2025

In this gripping and emotional episode, we dive into Jill’s extraordinary journey — a story of relentless persistence, unanswered questions, and one life-changing discovery.For over a decade, Jill battled mysterious and increasingly alarming symptoms: unexplained weight gain, drastic changes in her appearance, and a series of concerning medical issues that doctors struggled to explain. Despite her unwavering efforts to find answers, Jill was dismissed, misdiagnosed, and even told it was all in her head.But Jill refused to give up. Her determination eventually led her to a breakthrough — one that not only changed her life but inspired her to become an advocate for others facing similar struggles.What was the hidden cause behind Jill’s mysterious condition? How did she turn her pain into purpose? Join us as Jill reveals her incredible story of resilience, hope, and the power of trusting yourself — even when the experts don’t.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***

Hey! Hello! We just finished recording a very wild and very inspiring episode. You know, I more and more am impressed with the knowledge

from our guests and I guess I've always known that patients are the experts in their bodies, but some of them are not. So, I'm impressed with the knowledge from our guests. And I guess I've always known that patients are the experts in their bodies, but sometimes the patients have more expertise than the experts in their subjects.

And this lady is definitely one of those people. In fact, if anything, I walked away from this episode feeling inspired to do more for my own condition and also just realizing that I can make a difference. And I think for many of us out there, it feels overwhelming, but if you need a little pick me up in your step, this is the episode for that.

All right, let's get to it. Let's do it. Let's do it. Let's do it. Let's do it. Let's do it. Let's do it. Let's do it. Let's do it. Hi, Jill. Thanks so much for joining us today. Hi, Jill. Thank you for having me.

Well, we're thrilled to hear your story. And like most of the guests who we usually interview, I like to start with asking, what was Jill like, let's say when you were a teenager, what was teenage Jill all about? You know, Jill was active. Jill had a good social life. Jill tried to make the most of every single day. I would expect nothing less. What you all can't see right now is right, right behind Jill's head is a quote that says, live life to the fullest and make a difference along the way.

And from what you're saying, teenage Jill lived the same model you live by today. Yeah, but it's been a long journey, a very, very long journey. And there were times that I didn't think that I would make it to today because of my health. Well, you wouldn't be on the show make it to today because of my health. Well, you wouldn't be on the show if that wasn't the case sadly. But the hope is, is that you'll get to do the second thing in that quote, which is make a difference along the way by either helping somebody else get diagnosed or helping them just feel a little bit more connected to someone else who also has had a journey to get diagnosed. So when did things start to

change? Like I said, I was very active whenever I was younger. And when I graduated high school, I weighed under 120 pounds. I was five foot four and a half. I was fit. Of course, back then I thought I was fat, but wasn't at all. Every moment on the planet. When I turned about 21, I noticed that I was gaining weight and I was exercising all the time. I was eating healthy. I went to the doctor and was told, watch your diet, you know, all of the typical things.

And I went on a strict 600 calorie diet and I still gained weight. You did? What did that diet look like? Chicken and broccoli. I lived off from chicken and broccoli. How were you not passing out? Well, actually, one time I did.

I actually did at one point, but it just made no sense to me. And that's when I started going to the doctor, was around age 21. And the weight kept on coming on, even though there was really no reason for it. How did eating 600 calories and gaining weight feel? As a person who's gone through unexpected weight gain when it doesn't make any sense. I know for me it was really hard because I became kind of obsessive in scrutinizing every action I did. Did you find yourself engaging in those behaviors? How did it change your relationship with food?

Absolutely. I mean, it's very defeating, especially when you go to the doctor and say, I'm doing everything I'm supposed to be doing. And they're like, calories in mean calories out. And I could have sworn until I was blue in the face that I was doing everything that I was supposed to be doing. And it fell on deaf ears. The reaction that physicians gave me regarding don't eat so much whenever I weight, it affected my relationship with food. Even to this day, I feel guilty if I overeat. I'm probably more neurotic about it than what the average person is. It makes me more conscientious about each bite that I put into my mouth where most people don't even think about it. And then I started to have other symptoms. I started having excessive sweating. I was swelling.

One of the things later that I had noticed was that my hands and my feet had grown in size. And I just thought, oh, you know what, I'm getting older. Maybe that just happens with people as they age. Did you need bigger shoe sizes or how did you realize that your hands and your feet were growing? So I had grown out of all of my rings. And so that's how I had known that my hands had grown. And for my shoe size, in high school, I was a 7 1⁄2 size shoe. And 12 years later, whenever I was finally diagnosed, I was an 11 size shoe. I remember not wanting to be in photos. I remember being on a family vacation.

And I was in South Florida. And, you know, sometimes whenever you're walking around, people will walk around with birds that they're able to put on your shoulder. And someone came up to my husband and I and ask, you know, Hey, can we take a picture of you with the bird? And they sell the photograph. And I saw that photograph and I can remember cringing and saying to myself, that doesn't look like me. Who is that? And I was actually kind of embarrassed for my husband to be seen with me.

Shrek was based off from someone with this disease, the cartoon character. And I felt like Fiona off from Shrek. So a lot of the differences that happened in my face, when you think of Fiona, think of the coarseness of her features. There's a broadening of the nose. There's frontal bossing across the forehead that kind of gives a ridge above the line. One of the things that a lot of people said to me and my husband in particular, before I was diagnosed, he would say, open your eyes. And I would be opening my eyes as far as I could, but there was so much soft tissue swelling in my face.

It looked like they were just two tiny slits and that I wasn't opening my eyes. But I truly, I had them open as far as what I could, but there was just so much swelling. It was such a hard time for me that I didn't go to class reunions. I didn't want people to look at me and say, oh my gosh, what happened to her? It was embarrassing. It's one of the hardest things that you can imagine looking in the mirror and not recognize what is looking back at you and knowing that it's you and not knowing how you got there. And you go to the doctor and they tell you there's nothing wrong. It's funny because just earlier today I had my cable go out and I called the cable company and I said, my cable is not working.

And they said, we just ran a test and it's working fine. And I said, I can tell you, not only is my cable not working, but I went to my neighbors and there is not working and the person next to mine is not working. But I was told over and over again, your cable is fine. And I kind of felt, and I don't blame this on the physicians because I truly think that it's ignorance, but I felt very gaslighted. Later on, I started missing my menses each month.

So I went to the doctor and the gynecologist said, oh, you must have PCOS. And that's when he did an ultrasound of my ovaries and didn't see any cysts or anything. But he said, well, you know, I'm sure that's why you're not having a cycle. And he sent me on my way. He put me on metformin, which is a common treatment for PCOS and it did nothing for me, and I just continued to get worse and worse and worse as, as the years progressed. How did we get to like, what was the progression to getting the PCOS diagnosis? You know, the weight gain, I was also breaking out under my chin.

I was also getting facial hair. I was also getting facial hair. It was basically a lot of the symptoms that lead to my diagnosis also mimic polycystic ovary disease. And unfortunately, my healthcare providers, I live in a small rural town and I went to the doctors regularly and complained from the loss of menses. So for years, my cycle had stopped and I would have them sporadically. And I then started experiencing, I had an ectopic pregnancy that burst. And I don't know that that had anything to do with my condition, but because of an ectopic pregnancy that burst and I don't know that that had anything

to do with my condition, but because of the ectopic pregnancy. Just for a person who's never had a child and knows nothing about the babies, what is an ectopic pregnancy? An ectopic pregnancy is where you get pregnant, but it's not a viable pregnancy because it's within the ovary or the, excuse me, the tube that goes, yes, the fallopian tube. And actually the pregnancy started to grow within the tube and it burst. I almost died. It's one of the higher causes of death for pregnant people. So when the sperm fertilizes the egg, that embryo has to travel into the uterus and then implant

in the wall of the uterus. But if it never makes it that far and it implants in the tube itself, that is called an ectopic pregnancy or pregnancy not where it's supposed to be. That tube is a very, very thin straw-like structure. It cannot support the rapid growth of an embryo. What happens is that because it can't physically support that growth, it will burst. When that happens, that causes bleeding, that can cause many, many different problems that can be fatal.

It's an emergency. Well, I had to go in for emergency surgery and they removed that tube. And they told me that it would take years for me to get pregnant again, because I only had one viable ovary. But at that time, I was you like lose the ovary when this happens, like it's over. Well, I lost the tube to the ovary. Gotcha. But yes, lose that production facility,

the ability. Correct. Correct. So my hormones, I'm sure, were already off from going through the ectopic pregnancy, but I was able to get pregnant again shortly after, which was, you know, I'm told that it was, yeah, quite honestly a miracle. And I had a successful pregnancy. Actually, I felt very, very good during my pregnancy. This is a very common theme on our show in that pregnancy, kind of the body has to turn all its energy into creating a new being and so it doesn't have the attention and energy to do all of the haywire things it was doing to you beforehand.

Right. So this is actually very consistent with a lot of our other guests. I felt very, very good during pregnancy. And I had a successful pregnancy. She was a larger baby than expected. She was eight pounds, 11 ounces. And I had to have her C-section because she couldn't fit through the birth canal coming out. But all in know, all in all, I was thrilled to have a healthy baby. But shortly after, I dealt with a little bit of postpartum depression, which is common from what I understand. After I had my daughter, my symptoms got much worse. I feel a lot of guilt I feel a lot of guilt about, especially when she was young, not being the mother to her that she deserved because I was so exhausted.

I couldn't go out and play with her on the playground. There were things that I physically couldn't do. And don't get me wrong, she's a brilliant young woman, but I will always feel guilt regarding her childhood that I wasn't a good enough mother because of this illness. And then later on, I noticed when she I only breastfed her for maybe a week or two. And when she was three, maybe four, I noticed that my breasts were leaking out of the blue. Did they just start? Like they stopped and then started?

Yes, yes. And I thought that's strange. And also keep in mind that I wasn't having my menses and I went to a local gynecologist and I explained everything that was going on. And he said, Oh, your breast leaking just happens sometimes with people. And I was pretty much dismissed. And I just dealt with it. Later on, I started having all sorts of gastrointestinal issues. Did you just like start pumping again?

Like did you just like, I guess this is my life now and I'm going to just pump? Well, I mean, it wasn't severe. Only if I touched it, it would, it would, yes. So as long as I left them alone. So someone hugged you, you could just... Yes. I could correct, correct. And so there was no no breast workup, let alone anything

outside of the breast, but there there wasn't any concern for why someone who was not actively breastfeeding would be having discharge. And that's one thing that was so concerning for me because the gynecologist that I saw was a professor. He was a teacher. And I thought to myself, you know, afterwards, knowing everything that I know now,

he was one of the people that I went back to and said, hell yeah, when I finally did get my official diagnosis, I went back to a couple of my physicians. Thank you for doing that. Thank you for going back because that's the only way they learn. Well, you know, and I don't know how much good it did, but I was happy to pay my co-pays and such again, just to make sure that they weren't gonna do this

to someone else. Because especially gynecologists with the loss of menses, they are in a position to diagnose someone with the condition that I have. So from my breast issues, I started having really bad gastrointestinal issues. And I got a gastroenterologist and had a scan of my gallbladder. And normally, if it's full of stones, they can see all the stones and they couldn't see any stones. And so then they did, I think it's called a HEDA scan. It is a nuclear study. And they had found that my gallbladder worked for the first 20 minutes and then it would stop.

And so he came to me and he said, your gallbladder isn't working properly. We're going to remove it. And by that time I was just, you know, do whatever it takes to make me better. And they had acted like we're going to remove this and you're going to go on and lead a totally normal life. And whenever I woke up from that surgery, I could tell I was worse and not better. And I went to him multiple times after and said, there is something wrong. And on top of him, I went to my primary care physician and said, there is something wrong. And she contacted him and he told her it's all in Jill's head. And

to go to go back from reasons why you would remove a gallbladder. The gallbladder is this really little cute pear-shaped organ. It sits inside the liver and it's full of a substance called bile. Bile is what breaks down fat. You need bile to break down fat and to help absorb a lot of, it's called fat soluble vitamins, vitamin A, vitamin D, vitamin K. We've heard of all these vitamins. All the vitamins you need. Yeah.

Really, really important vitamins. The most common problems with the gallbladder are either gall stones, which block the little duct, the exit for the bile or an inflammation around the gallbladder. That's called cholecystitis. And that's usually you'll have sharp pains, right? In your, it's called your right upper quadrant where your gallbladder lives.

So it didn't sound like you had any of that, but they still decided to remove it. Your gallbladder. Yes. And when that happened, literally I got 10,000% worse and I was having to be on pain medicine every day to control the pain that was now happening in that area. I had to drop him and I had to go to a larger city and I got and I had two colonoscopies within six months. So yeah, I wouldn't recommend it to anyone. If you've never had a colonoscopy, bless you. Because it is not fun. Yeah. Well, and, and on the second one, they noticed something was really, really

large, one of the ducks was really, really large and they said, if this doesn't improve, I think we need to do an ERCP on this person. Well, there's an MRCP that, that is a scan to make sure that everything is okay. It's a certain type of MRI, but then there's the ERCP where they actually go in and physically check out those areas to make sure that everything is okay. And I went in for an ERCP and directly coming out of surgery, I could tell whatever they did fixed me. For that issue, that surgeon came to me afterwards and said, Jill, I have done literally thousands

of these procedures. And he said, I've never seen what had happened with you. Because he said, normally we go in and we remove stones and sludge. And within you, it's like the whole area had grown shut. And we had to go back in and open it back up again, your biliary system, and in order for the fluids to get back down to where it was supposed to go. to where it was supposed to go. And by that time, I was just so happy that I was feeling better, that I was just ready to finally,

after two colonoscopies and months and months of taking drugs in order to try to help control the pain, you know, I was just ready to get on with my life. Also, at the same time, I was having these breast issues, and I was walking at the gym, trying to stay in shape. And one of the people that I was walking next to, someone that was very young had just died of breast cancer, and we were talking about it.

And by this time, I could see that I had a large mass in my breast. And I thought, well, you know, I better go to someplace else just to make sure that it's also looked at. And I went to a different OBGYN and tried to have that addressed. And it's funny because I could literally see it sticking out in the mirror. It was that big. And I had called and got an emergency appointment in a larger city on a Friday. And then the meeting was on that Monday. And then the meeting was on that Monday. And that weekend, I was getting up out of a bed and I felt it burst.

And I felt fluid going into my armpit. And it was then that my symptoms got even worse. But I went to the breast center there at the larger city and they saw the fluid collection and stuff. And they said, well, you know, nothing to worry about if it's a normal cyst, it'll be gone in 10 to 14 days. We're going to do a follow-up a month later. And I went back a month later and whatever it was, was still pumping fluid out into my breast. And my symptoms went 10-4. And you still have not had any imaging? Well, I had mammogram, I had ultrasound,

and they could tell that it was still pumping out. Where is it coming from? Well, there was something going on with my breast tissue that was secreting, but I was seeing an OBGYN and he sent me to see a surgeon to try to remove the area that was pumping out fluid. And the surgeon- And just to be clear, it's pumping out fluid that's not coming from your nipple? Correct, correct. It's just this I have not heard. It is literally just puddling up inside my breast

tissue and they said that they've never heard anything about the breast center was dumbfounded by it also. My symptoms went tenfold whenever that happened. Whenever it leaked? Correct. And you could feel it leak? Did you have any sensory, like, to it? The only time that I could tell that, I could definitely tell the instant that it burst.

And I could tell that it went into my armpit. The only way that I knew that it was still pumping out fluid was because they were ultrasounding it and such. And they followed it for a couple months. Big. Because I assume they actually ended up whenever they removed this little area that was pumping out, they also ended up removing one of my lymph nodes. And they said the only thing that they couldn't find anything wrong with the lymph node, except for it had grown very large. So when I went to the gastroenterologist, I even myself couldn't put all the pieces together.

I didn't realize that they were all connected. It wasn't until I went to the breast surgeon and he picked up my file and it was an inch thick and he said, I think something rare is causing all of this. He said, I realize that you're having these breast issues, but I think something really rare is causing this. Have you ever been sent to see an internal medicine specialist. And I said, no. And he looked at it and he said, really? None of these doctors have sent you

to see an internal medicine specialist. They look for things that are rare. And I think whatever is going on with you is rare. And so he set an appointment with an internal medicine specialist. And on my first appointment with him, they did a bunch of blood draws. And I kind of felt guilty because I myself, due to the acne below my chin, had set an

appointment with an endocrinologist and I didn't want to kind of double dip on my insurance because I was already seeing an internal medicine specialist. Do I even need to see this endocrinologist? And so I called the internal medicine specialist and I said, you know, listen, I'm wondering if I still need to even go to this appointment that I sent myself and she said, let us check your records. The doctor will call you back and the doctor called me back and he said, when is this appointment?

And I said, it's next week. And he said, no matter what happens, do not miss that appointment. And I said, okay, I'll, I'll make sure that I do that. And what's funny is he called me back two more times and said, do not miss that appointment. And I said, I hear you loud and clear. I will not miss that appointment. Shout out to my doctor. Yeah.

For the follow up, man. I don't think I've ever had a doctor call me that much about it. That is five star follow up. Somebody write a review on ZotDoc. Yeah. On my first visit with that endocrinologist, she asked me, she said,

have you noticed a change in your appearance? And I literally just started to cry. And I said, it's like, I'm getting uglier and uglier every day. And she said, well, I don't suspect that it's you. I think that it's this condition that I suspect that you have. And she said, we're going to do a bunch of blood work and we'll see if this is what's wrong with you. And the next day I came in and I had to do 21 vials of blood. The lab notated. They got all that from one vein? We got one vein.

Hope you have good veins. Yeah, did you do it in one vein? And then was waiting to hear back from the doctor. And roughly a week later, I woke up and I couldn't bend my fingers. And I called the endocrinologist office and I got the nurse there and I said, Hey, I can't bend my fingers. And she said, we're an endocrinologist office. We don't have anything to do with your fingers. And I said, I don't think you understand. I think it has something to do with what is wrong with me.

And she said, well, I'll let the doctor know. And all throughout the day, I was concerned about why I couldn't bend my fingers. But at that time I was a young mother and life goes on, but around 3pm that day, the doctor called me and she said, I'm so sorry that it took me so long to call you. All your blood work was a send out. I just got the results back in front of me minutes ago. She said, I think that you have either acromegaly or Cushing's disease because

both of those levels came back high. We have to remember that the endocrine system goes in a feedback. And when one is off, it can push multiple off. The reason you can't bend your fingers is the inflammation is affecting your joints to the point that you can't bend your fingers. As soon as I got off the phone with the doctor, the first thing that I did was run to the computer and Google what they were.

And it's funny because I had gone through my search history and I had come across acromegaly in the past. And I remember coming across it and thinking, surely with as much as what I've gone to the doctor, if I had this, they would have figured that out, but they didn't. And sure enough, that's what I had was acromegaly. The very next day I went in for an MRI and it showed that I had a 2.7 centimeter And it showed that I had a 2.7 centimeter tumor. And, you know, keep in mind, they try to catch these tumors 10 millimeters or smaller, and mine at that time was 2.7 centimeters, and I don't know if

you know what acromegaly is no clue, but absolutely not. Acromegaly is a growing condition caused by a benign tumor in 98% of cases in the head. And if I would have gotten it as a child and it had become active as a child, I would be a giant right now. But because I got it as an adult, everything on me has continued to grow. So within Acromegaly on me has continued to grow. So within apromegaly, it causes everything to grow. All soft tissues, it affects every organ. And my hands are much larger than what they were.

They've actually grown a full digit in length. My shoe size had gone up, like I had said. It finally put everything into context. Did you get taller? No, because after puberty, your length bones actually fuse. Oh. But actually, I have grown a half an inch since my diagnosis, which, you know, normally you shrink as you get older.

And I've grown a half an inch since my diagnosis. So here's a little kind of medical background as to why, what Jill just described. When you go from a baby to a teenager, your bones primarily grow through a process that involves the growth plates, right? But there are other bones in your body that are considered more flat, right? So those are the bones in our skull, the bones in our face, and the bones in our hands and feet. They also have much to much smaller degree growth plates, but they are not the long bones that we're talking about. Now, those growth plates are significantly affected by hormones, right? When do you grow the most? In puberty, when you undergo this transformation of

hormones. When you're done with puberty, those growth plates have closed. So there's no more possibility to grow really in length if you have new growth hormones. But if there is an abnormal influx in hormones, they still will have an effect, but in a different way. And so that's why these bones in the face, in the head, the feet and the legs, they grow, but more I would say like in girth, then length. Correct. Yes. Okay.

What about the leaking? Like what was that? Well, so I actually had a cosecrating tumor of growth hormone and prolactin. Prolactinomas cause your breast to leak. It's a hormone that causes... Can you explain? So, but it's in your brain behind your nose is a little gland called the pituitary gland. Okay. This is a little P shaped gland, but and it is responsible for producing the most important hormones that exist in your body.

There's actually an anterior control. So there's an anterior and a posterior pituitary. And of course, nothing is easy. The anterior pituitary has a bunch of hormones that it's responsible for. So okay, growth hormone, okay, that's what's responsible for our growing bones. Thyroid hormone, FSH and LH, which are the hormones in our menstrual cycle, which need to go up and down and up and down in order for us to have a period. So, I'm guessing this is why you never had a period because you were always just up.

Okay. Correct. And then, you have a period. So I'm guessing this is why you never had a period because you were always just up. Correct. Okay. Correct. And then another hormone called prolactin, which is the milk producing hormone. When you are a mother with a newborn that is nursing, a baby's suckling and their cry releases prolactin. And that is what lets the milk down. There's really no reason why I shouldn't have been diagnosed much sooner.

It was just ignorance. Is this like a, okay, so I have heard of one, I had to Google it because I was like, I think this person has this, but I didn't know the name of it. So Andre the Giant, if anyone remembers wrestling or princess bride, right? So I was like, okay, I think that's what he had, right? Because I know he was really big, hence the name giant. But like he ended up dying. I just Googled this. It said he ended up dying

from heart problems related to it. So I guess my question to you is, since you were diagnosed later, does that change how this affects you long term because you didn't grow in puberty crazy size? Or is it like those things you still have to worry about now? Oh, no. It's definitely fatal without treatment. The number one cause of death is the heart outgrowing its valves. Oh, so the heart's still growing inside you? Correct. Correct. You know, I'm medically managed now. They try to catch these tumors under 10 millimeters. They're called micro adenomas.

Mine was a macro adenoma, very large by the time that they finally found it. And I went to a center of excellence to try to have my surgery because I was recommended to go to a local surgeon. And luckily that surgeon was smart and said, I could probably do one of, I could probably do this. I've done one in my career, but you probably need to see someone. He said, I could probably do one of, I could probably do this. I've done one in my career, but you probably need to see someone. He said, I don't even know that we have the tools here to do the type of surgery. Um, it's called transpanoidal surgery. And so I went to MD Anderson in Houston, Texas.

There's one surgeon there at that time. And I went and I had my surgery. You know, it's funny because the day that I had my pituitary surgery, my menses started back. I had gone years without and literally while I was still in the hospital for my pituitary surgery, my menses started back. So I went to MD Anderson, had my surgery, spent eight days in the hospital, came home and right as I left the hospital, blood starts gushing out of my nose. And I went on what I thought was a protected site because I was going to

ask, Hey, is this normal? What should I do? Because I called the ER there and they said, well is it clear fluid because they were worried about cervical spinal fluid And I said no, it's blood and they said well, you're probably okay. Go ahead and go home and so I went to onto a what was supposed to be a protected site and someone had the first thing that I read was where someone had gotten onto that protected site and said, big hands, big feet, sounds like a bunch of big fuglies to me. And as a female with this condition, I cried for two days, two days.

And I never even asked my question because it was so disturbing. Two days later, I got on and the comment was still there. And I messaged the admin and I said, could you please remove this comment? It's very damaging. And he said, oh, I'm sorry. Sometimes the crazies get by me. But I decided right then that if I ever ran a support group for acromegaly or their patients, I was going to make sure that the crazy didn't get in and harm people just to harm them. There was no sense or reason why

someone would get on a site and insult a group of people who are just trying to survive. And I would say that that was a tipping point for my advocacy work. I started going to social media. I put on my space and I'm aging myself now, but I put on my space 20 years ago. I am an acromegaly patient. If anyone else has this disease or would like to talk, here's my phone number. And I started getting calls from all over the world. I would get calls from people that were newly diagnosed, crying, saying, am I going to die? In 2011 was

the first Acromegaly conference that I attended, and it was hosted by Wayne Brown. And in 2012, And in 2012, I had already opened up a women's only discussion group because I knew back then that I didn't want to talk about loss of menses or facial hair or, you know, there's a lot of things that you don't want to talk about in front of the men. And I knew from running the women's support group that I had found what I wanted to do. I wanted to make a difference and that I was in a position to make a difference. I went to that first meeting and when you are affected by something that most people don't understand. And you're in a room where every single person does understand and knows what you've gone through.

You know, none of our journeys are the same, but they can understand looking in the mirror and not seeing or knowing what is looking back at you. The acceptance and, and for for years that was the first acceptance that I felt. For years I didn't change my Facebook profile picture. And at that first Acromegaly support meeting, it gave me the courage to say, you know what, if people don't like me for the way that I look, well, then they're not my friends anyway, and I don't need them in my life. And I literally that very first night of that first meeting, I put a current picture of myself up on my Facebook profile. And I've seen the difference that support makes for others

in education regarding this disease. And so I've just made it my, it my mission to try to educate and be supportive of others with this. But it took my own suffering to try to make things better for others. What is the treatment of this disease beyond surgery? So according to the clinical guidelines, first, surgery, and especially if it's not a micro adenoma, there are medications. Most of our medications use large board needles and they're once a month shots or we have a daily shot. Years ago, I helped fight to get an oral medication approved for this disease with the FDA. Because of all of this happening, I've really done my best to turn lemons into

lemonade and I do a lot of work. I attend medical meetings. I'm a member of the endocrine society now, even though that I'm not a doctor. I really feel like education is key and we have to put the correct information out there regarding this disease. Another thing that I've done is I've hosted a patient-focused drug development program with the FDA where I've brought in patients from around the world to tell their experiences to try to gain a better understanding regarding the unmet needs that we face within this disease.

You know, we have a private Facebook group, but we interview every single person before we allow them in. Even through COVID, we didn't have fighting. You hear about all these squabbles and stuff. We didn't have any of that. People have said to me, thank you. You know, you're really providing a safe, safe place. And with everything that patients have to go through, we deserve a safe place. Jill, you are a boss. You are a boss.

I've done my best. You know, that's for sure. You've done more than most. I actually, I was doing a treatment yesterday actually, and somebody said something to me. And I think that you are the living embodiment of this statement that when you get diagnosed with a difficult condition, something that's going to affect you for the rest of your life, and it takes a while to get that diagnosis. And it's frustrating that you kind of have a choice. You have a choice that you're either going to be the victim and that your storyline is how hard it was to get diagnosed, or you're going to be the champion

for that condition so that no one lives the same experience. I want to help people miss those pitfalls that I fell into. So I think, you know, yes, it is incredibly frustrating that it took 12 years and a bevy of doctors to get your diagnosis, but I am so incredibly impressed and inspired by what you've used that frustration to fuel. You aren't making change for people who are living with your condition and living with your condition unknowingly. And if nobody said it to you in a while, you are so inspiring. Well, you know, I had sent your producer a picture of myself, what I look

like, you know, full disease, where I clearly look like Fiona. We actually on our website, www.acromegalacommunity.org, we have something called the faces of hope. And we put people's before pictures while they're in active disease. And then after they've undergone treatment, and the difference that it makes to try to give people hope living with this disease. Well, Jill, I want to mention something because when you talked about how you told the doctor that you felt ugly, we had a guest a couple of weeks ago who told us that she was bullied her whole childhood for being ugly, and she developed a sense of humor to deal with it. She's like, well, my mom looks like me and my other families, they look like me.

She actually put her face into an AI recognition tool and was diagnosed with a genetic disorder in three seconds. And I think for people, especially for you, who noticed a change in your appearance, in that we shouldn't just be thinking of appearance as a superficial thing. These are clues. These are absolutely clues. And I'm sure, you know, how long had you been feeling like your

appearance was changing? Oh, I was embarrassed. I was embarrassed to be out in public. We live in such a visual world and it definitely, people treat you differently if you're not, what they see is beautiful. But I tell people every single day, I would rather look like I did and have a beautiful heart than be ugly on the inside too. Because there are so much ugly in this world

and no compassion. And one of the things that having this disease has taught me is we are much more than what our looks are. If I could hug you right now, I just want to hug you so bad because we just need more people like you, Jill. One thing I want to circle back to because we've just had this lovely moment about aesthetics and looks. I think one of the things that's really interesting is how when you feel different, like when you look different, that sometimes it gets perceived as ugly to you because it's not

you. What did it feel like to look at the mirror and no longer see yourself? Because I imagine that's a pretty like jarring experience. It is extremely jarring to look in the mirror and not recognize the person looking back at you and not understanding how did I get here. Yeah. Did you feel like it was connected to a medical issue or you just thought?

I thought I was just aging really, really poorly. Sorry, that's what was in my head. I was like, because we tend to beat up ourselves, right? We're like, oh, I've done something wrong and this is how I shall age now from that cocktail I had three weeks ago. I was diagnosed almost 20 years ago. And I'm told that I look younger now than what I did 20 years ago. And because of the CME courses and everything that I do worldwide, I work with the best

of the best. And even myself, I was in a CME course with a Harvard professor a couple of years ago, and she had a picture of someone that she put up on her screen. And she said, how old do you think this person is? And I thought to myself, oh, it looks about 50, you know? And at the end, she disclosed that that person had acromegaly and she was 19. Oh, so it's how fast did that change happen for you? Over how much time did it take to look completely different? Like was it fast?

Well the coarseness of the features, the whole goal is to try to get it before you experience the coarseness of the features and such. I knew that for, for 12 years that there was something wrong with me. I didn't go to my high school reunion because I didn't want people looking at me saying what happened to her. I mean, those things that you didn't do because I do like yourself. I absolutely, I absolutely do because it was, it was such a hard time, but at the same time, I wish that I hadn't let my appearance be such a driving force. And I'm going to show this and I'll put it up with the camera up to the thing, but you can just see.

Oh my gosh. That's you? Yes. Oh, guys. And I've had, I've had zero. I've had zero. I've had no reconstructive surgery to fix this. It's just now the condition is under control.

That is bananas. Yes. You just don't look at like the same person at all. I wouldn't assume that that was you. I've actually been sitting, I've sat next to doctors on planes and such and I've shown them that picture and they've said, that's not you.

And I've said, unfortunately, yes it is. And I've told them that picture and they've said, that's not you. And I've said, unfortunately, yes it is. And I've told them about the condition and he said, you know, you don't look anything like what they show acromegaly in the textbooks. And I said, that right there is one of the reasons why people aren't being diagnosed that should be diagnosed. We try to get it before it becomes this stage. And I've been medically managing this disease

for the last 20 years. I've been on medication to treat it for the last 20 years. It'll be lifelong. And there are other conditions that I'm sure people have probably seen because it's kind of been a meme online at this time, but there are a subset of women when they are pregnant and they call it pregnancy face, right?

Their nose becomes much wider, their whole face seems to change shape. And again, it goes back to the wild fluctuations in hormones. Only in your case, it doesn't stop because you haven't had a baby. You have a tumor that is consistently pumping out those hormones. Growth hormone, correct. There's something called frontal bossing that happened with me where you get a bridge above your eyes.

There's growth plates right here within your jaw and I was getting an underbite and I had to have braces for the second time. And whenever I went down to MD Anderson for my surgery, the surgeon there said, what made you get braces? I I said, all my teeth were moving. Well, it's because the space was getting bigger within my mouth due to all the growth. And they told me down there, they said, you know, 95% of our cases, they have braces on their teeth. And even going down to MD Anderson, I have to say,

they were considered out of my network. I had to pay out of considered out of my network. I had to pay out of network breaks to get treatment. How do you feel about that? Let's talk about why we hate insurance. Because of things like that, I've gone into public policy also. Whenever I first started with this, because acromegaly is an orphan disease. We do have drugs, but they're extremely expensive. And I worked with companies to help get patients support financial systems in where there's either a $5 copay or no copay at all

if patients have commercial insurance. So you bring up a word that I actually just learned this week, if you don't know what an orphan disease is, it is when there is not enough people that have it, so it is not financially viable for medicine researchers and things for them to research it. And I was told that, but it was never given a term. So if you've ever been told by a medical practitioner that your condition is not financially viable, it is called an orphan disease.

So it's specifically if there's less than 200,000 people worldwide with this disease. Within the US, I spoke to someone the other day that told me that within the US, there's 9,000 patients on medication to treat this. It's diagnosed in roughly three per million. But those have to be severely underdiagnosed numbers. Yeah. Extremely underdiagnosed. Jill, I want to talk about, because I have a theory called the stages of misdiagnosis. And one of the ways, which Anna talked about earlier,

you have a pathway, right? And you can either choose to give up and just accept it, or you can choose to fight it. And I believe that there can be outside factors that influence that and one of them is having a North Star believer and that can be a doctor, a family member, a friend. And it sounds like to me, it was that doctor who looked at your chart and said, there's something else going on. How did it feel to have someone finally take an interest in your case, a curiosity in your case, a doggedness to make sure that you've got to those appointments? I was happy to know that I was finally being validated.

Whenever I was diagnosed, it actually came as a relief because I knew something was wrong and I felt like I was being made out to be a hypochondriac. Whenever I was at MD Anderson, my surgeon, we were talking and I told him about the doctor that had said that it was all in my head. And he said, you know, in my experience, doctors that say it's all in your head, just aren't smart enough to figure it out.

And Jill, I just want to acknowledge because similar to I think there is an expanding definition of health. And because there are even from the time when I was in medical school, there are so many new diseases and medications and everything that is coming out with, with research and it's too much for any one doctor, even one specialist to really be an expert. And I think we have to understand that the patient experience in their disease is equally valuable. It's a different type of value, but not one that's less valuable. And what you're doing with your society and the education,

I think is just an example of the power that patients can take back over their conditions and rerouting that energy to helping others. Right. You know, you had mentioned that there was a patient that did a visual scan. We're currently working on a project with the University of Toronto, where we're trying to get patients

to send in their photographs. It's very protected. They go through the red cap system. I don't know if you know what that is, but the patient information is extremely protected. But it's to try to, let's say someone goes in for a sleep study, 90% of patients, whenever they're diagnosed with acromegaly, due to the growth, the soft tissue growth in the back of the throat, they have sleep apnea and they

snore very, very, very loud. If let's say a sleep specialist suspects this, they can scan their face and hopefully say, get in to see a good endocrinologist or they'll refer them to my organization and I'll send them to an endocrinologist for sure that knows regarding this condition. Well, Jill, you've enlightened everyone. It takes so much courage. We have talked about on this podcast many times before the difference between having a visible illness and an invisible illness and both have their challenges. And thank you for being so vulnerable and sharing your story. You will help so many people.

Thank you. No, thank you for what you're doing. I truly do. It takes people coming forward. I never thought that I would be anyone that could make a difference. And we're all working together to make a difference in this world.

And we need more bright lights, that's for sure, because we live in a dark world. For more information regarding acromegaly we do have a website it is www.acromegaly.org O M E G A L Y C O M M U N I T Y dot o R G. And, you know, I really do hope that if you're out there struggling, that you do find answers to what is what you're searching for. I'm on the verge of tears right now because I just feel like you are such an inspiration. You are such a fricking inspiration. And I'm walking away from this going, what can I do to better help people with the conditions that I live with?

Because you're absolutely right. Erin, we have to fill in the gaps where medical knowledge, like it's not a realistic expectation for a doctor to know 8,000 illnesses. So we have to fill in those gaps and you've done such a phenomenal job of doing it. I realized that this podcast was step one, but there is definitely a need for a step two. Well, and doctors are taught in medical school, when you hear hoofbeats, think of horses. Yeah.

Not zebras. Yeah. Yep. So you know. Well, from one zebra to another. Yes. Thank you. Thank you.

Thank you for the lesson. Thank you so much. It's been a pleasure. So we're doing something a little different today. Thank you so much. It's been a pleasure. So we're doing something a little different today. And really, we're just trying to take a couple moments more out of your time and kind of decompress and understand what we just learned. Right? Because there's a lot that really stuck out to me. And I think first and foremost, you know where I'm going to go, Erin, you know what I'm going to talk about.

Go ahead. Your, your go ahead. I'm amongst friends. I feel like her story highlights yet again, something that's near and dear to my heart, which is the blatant fat phobia that exists in the medical field. And yes, it's getting better, but 20 to 30 years ago it was rough. And I think that stories like this just highlight how often weight gets boiled down to your choices when this is another really good example of it being more a reflection of a condition or anatomy. Well, we have something called the review of systems, which is about 20 questions, which you might have experienced at some point if you've ever gone to the emergency room or

something and they're asking you, do you have any vision changes? Do you have any hearing changes? Do you have any problems swallowing? Do you have any problems? Yeah, I've had that. I've had those questions. But one of the questions is, have you experienced any unintentional weight gain or weight loss? And so that question has just been another one of our benchmarks. And I don't know how or why it went from just another question like, have you had changes in your vision to, well, you must be hoarding Twinkies at night, right? The other thing that's fascinating to me is that if it's on that list of questions, that means medically they know that it could be an indicator of something more serious, right?

Absolutely. I mean, on the one spectrum, unexplained weight loss is a red flag for cancer, but also unexplained weight gain can be also related to new growths, can be related to issues with swelling and dysregulation of your metabolism. So there's many different medical reasons why you could have unexplained and in this woman's case she was only eating 600 calories a day. There's no reason why you would gain weight if you were in that type of calorie deficit other than there is something else medically going on with you. I'm just going to say the thing that I feel needs to be said. If you walk into a hospital

and you've had unexpected weight loss, they're going to be like, something's wrong. But if you walk into a hospital with unexpected weight gain, they're going to question, have you been cheating on your diet? Have you been eating improperly? The first thing they think about isn't your health. It's your choices. And that is something that I think is still consistent today. And again, I really just feel like we attach weight to morality too much.

And it really needs to just be severed from that so people can get the treatment they deserve. Yeah. And another thing that we have come across a theme in these episodes, but the, like the carnage that goes along with misdiagnosis for so long, like she lost an entire organ to this. Yeah. But she didn't need to lose. No, not at all. And her appearance completely and in some cases, irreversibly changed. I don't know.

It's just like, at what point do we stop to really hold the system accountable for these errors in judgment? And I hate to be judgmental because obviously in judgment. And I hate to be judgmental because obviously there are lots of amazing doctors out there, but at some point we have to acknowledge that the way we are treating and diagnosing people maybe isn't working as well as it should. Like everything and a lot of other industries, not everything, but in a lot of different other industries, there's this been this revolution and change as a result of digitalization and other things. But it feels like healthcare is still a bit behind on that.

And we're starting to see it with the diagnosis with AI and some of the other things that we've seen in other episodes. But this is a great example of where a patient really suffered and lost a lot because healthcare is just a little behind. And I truly believe that AI will not replace doctors, but doctors who don't use AI will be replaced with doctors that use AI. I agree. I think it's just a tool.

I think it is the ability to get to an answer faster so you can treat the patient better. And I think this is really interesting when we talk about something else that came up in the episode, which was orphan conditions, right? Well, without the use of technology, treating or diagnosing those conditions is really, really challenging. But when you have amazing advocates like Jill, who are providing the resources, they're collecting the information, organizing that data. Well, if we have a system that then provides that to doctors when they can input the right information, we can use that to fundamentally change the way we diagnose and treat people. So orphan syndromes may not have to be orphaned forever if health can embrace technology.

Yeah. And we talked about this, that it is, and I think even our last episode, you mentioned how it is unrealistic to expect the doctor that's sitting in front of you to be responsible for understanding all of the details of the tens of thousands of potential diseases you could have. And I think we need to be supporting our doctors. I will tell you when I was a resident and if I was on rounds and someone saw me whip out my phone to Google something, you know, get out. Yeah, that was a sign of weakness

that you had to use the internet to help you. But now, why wouldn't you? Yeah, but is there still that negative perception of using technology sometimes? You know, I'm not a, you know, I haven't been a trainee in a while, but I do know that there are healthcare systems that are integrating AI into their healthcare systems.

And listen, it takes on average women four years longer to be diagnosed with the same condition as a man. We need to do better by women. And I think at the minimum, implementing tools that can help cut down on that time to diagnosis is the first step. And that's the thing. What I took from this is the episode is I want to be Jill for my condition. I want to take this on. I want to advocate. I want to learn about what I can do to help people because

this podcast is a start, but it is not the end of what I can do to help people. I can do more. And I think that was my learning in that I always felt like I wouldn't be listened to, to be very honest. I felt like I'm a girl that does silly dances and wears pretty outfits online. Who's going to take me seriously? And the reality is, is if I don't take myself seriously in pursuing it, nobody else will. So the change has to come from me. And then, then it's just how hard do I want to try? And I'm like jazzed. I'm like go out there. I'm ready. Rocking this moment. And I'm just so inspired by her. We love Jill. Well, cheers to Jill. Just cheers to Jill.

If she hasn't helped anyone else, she helped me. Yeah, thanks. Thanks everyone for listening. If you learned something, if you could relate to anything that Jill said, please let us know in the comments, please give us a rating. And if you have a story that you want to share, please submit to stories at TheMedicalDetectivesPodcast.com.

Thank you everyone for listening and have a great day. The Medical Detectives is a Soft Skills Media production produced by Molly Biscar, sound designed 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 themedicaldetectivespodcast.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

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