It's Not All in My Head: An HHT Story

Raylene Lewis: 0:02

Hi there, and thank you for joining us on AVM Alliance, a pediatric stroke podcast for families and friends whose lives have been affected by traumatic brain injury, brain vessel disease, or stroke. The purpose of this podcast is to focus on the kid's side of brain injury with honest Talk News, information and discussion for our community. Being a parent of a medically complex child is an extremely difficult path to suddenly find yourself on. I'm Raven Lewis and my son Kyler suffered a hemorrhagic stroke at age 15. Thank you for joining us. Today. Before we jump right into our guest interview, I want to start with a little bit of information about H H T for those who are unfamiliar with this condition. H H T is a genetic disorder in which some blood vessels do not develop properly, and it can occur anywhere in the body. A person with h h. May form blood vessels without capillaries, the tiny little blood vessels that pass in between the arteries and the veins that are usually present. The space between an artery and a vein is fragile and can often burst and bleed much more easily than other blood vessels. Men, women and children from all racial and ethnic groups can be affected by H H T, and the problems for someone with H H T can be serious and potentially life-threatening. If H H T is discovered early, there are some treatments available, however, There is currently no cure for H H T. I'm sure we have all gone through a time in dealing with either ourselves or someone we love who is feeling sick, whether we are patient or caregiver. It is extremely frustrating to know something is wrong, but not have a clear course of action of what to do to make things better. This is the story of our guest today, but she went years without the correct diagnosis and her medical. In her own words offers a lot that we can all learn from. So with me today is Stephany Zumerling and she has quite a story to tell.

Stephany Zumerling: 2:06

My story kind of started before my diagnosis of a brain avm. I was diagnosed with hereditary Hereditary Hemorrhagic Telangiectasia, which is a gene genetic disorder, h h T. And then I also was diagnosed with appendix cancer, so I had two very rare conditions. Well, three if you're talking about the brain, AVM as well. So three very rare conditions, and I was misdiagnosed for my entire life basically. Really, my story started like in maybe high school. Is like when I started having a lot of symptoms of different things. Mostly my appendix, but a lot of like the hereditary, the H H T was starting to come out and unfortunately due to my age, I just was always told that it was most likely other. Things. Anxiety, hormonal imbalance, cuz I was a female.

Raylene Lewis: 2:53

How did you get it figured out? Because I feel like there are some doctors, there's some really, really good doctors out there, and then there are some who just like automatically jump to conclusions without really considering all the possible options and, and it's okay sometimes. I mean, they're just humans too, just like us. It's just that people generally tend to take what doctors say as like the cold heart. Right and right. It seems to be really important to get that second opinion on anything that's even remotely serious or anything when it's like, Hmm, this doesn't really seem to be my problem.

Stephany Zumerling: 3:27

The biggest lesson I had learned was stepping up and getting a second opinion because I trusted my primary care physician for. I mean, I started having really bad nose bleeds, which is a number one symptom of H H T. I see. Yeah. And she would just like, kind of blow it off, like, oh, well we live in Illinois, so it, we have dry air. And she would just say, use a Humidifier, which we did, and it never made any of it, you know, difference. And, but over the years it just, like, I, I didn't feel right. I just knew deep down, like in my heart, I just knew something was wrong and I kept going to her. Same things over and over again, the same problems. And she would give me the same response. And finally she told me I had anxiety and that it was medical anxiety and that I needed to, you know, she put, set me up with a counselor, which was great. I started suffering with depression a little bit. But I feel like the depression came after feeling like nobody understood how I was feeling. Like I didn't feel good. I felt sick all the time and nobody was listening to me and we couldn't figure it out.

Raylene Lewis: 4:33

They said it's all in your head, basically is what happened?

Stephany Zumerling: 4:35

Yeah. and I was getting nowhere and I just felt like no matter what I was doing, I was never going to feel like normal. I was never going to feel like good. And so, yeah, I started feeling depressed after a while. And so I went to a counselor and then as I got older, I went back to her and the pain in my pelvis was getting so bad and I did, I suffered with migraines, which she just dismissed as hormonal as well. I would get really bad.

Raylene Lewis: 5:01

They never took a to look in the head, right? Never.

Stephany Zumerling: 5:02

Like, no, I had never had a scan. I had never had scans ever. The only scans I had were ultrasounds and actually going back after my diagnosis of my appendix, they reviewed old past scans and saw that the radiologist actually suggested me having further testing done. Well, the doctors, they never did any like further testing. They didn't do like do like a CT or anything to like see like what is. I ended up in the emergency room because the, my appendix almost burst. They went in for emergency surgery and found out, but my appendix was so enlarged and the tumor was so big that it just mistakenly, and an ultrasound looked like my Fallopian tube. In the end, it ended up being that I had appendix cancer. Wow. So like I ended up with more a rare cancer and she didn't even wanna look into it. She just believed, you know, what she wanted to believe.

Raylene Lewis: 5:54

I really relate to what you're saying in that problem because what most people don't know is that I was born with a small congenital defect. And so I had, this is like, you know, back in the day, even before ultrasound, right? Cuz I'm old and they would take lots of x-rays and my mom my, my problem was I. you have a bla, you have a, your bladder, right? And then you have your kidneys and you have these tubes that go down that are like called ure cells that kind of go into the bladder so that like, you know, when you pa goes where it's supposed to, right? Right. I had a a, a kidney that was malformed incorrectly and same thing, you know, for that tube. And so I was always crying. I was always, always hurting. And the doctors would tell my mom, oh, she's spoiled. Oh, she's got an ear infection. You should lance your eardrums. Like all this stuff and my. Looked at a x-ray one time and goes, well, what's that? You know? And the doctor goes, oh, that's a gas bubble. That's nothing, right? Yeah. It turns out it was a tumor like the size of an orange. So for everybody now, which I absolutely love, is that with most doctor offices you can actually read your own reports. So I, I always say, you know, when you sign up for that, when like a radiology report comes in, you know, the doctors are gonna tell you whatever, but you can look and read the reports yourself. And I think, I think that's a super important thing to do because I do think that sometimes they dismiss it. And for Kyler recently, He had a test done and we were dealing with a PA because the main doctor was not available. And she called in and said, oh yeah, his blood work came back and he's really iron deficient, so I'm gonna prescribe these iron pills, you know, take one a day, you know, or whatever. And so I went and looked at the report. I mean, this. Like a month ago. And I looked at it and I was like, he's not iron deficient at all. His price problem is, you know, is this, it's vitamin D, it's not iron. And so I sent her a message and I questioned her and she was like, no, that's what the report said. And I'm like, can you, can you double check and then just reply back to me? And she came back and goes, you're right. I misread the report you know,

Stephany Zumerling: 8:06

you're like, good thing I looked.

Raylene Lewis: 8:08

Yeah. So I'm saying you always, you always double check. So it turns out that you had a very rare form of a, a pancreatic cancer.

Stephany Zumerling: 8:15

Right. I wish I would've followed up with other doctors. I wish I would've gone and talked to other doctors. I wish I would've looked at those reports of my ultrasounds that they had done in the past. Cuz even at that point when she sent me to an ob. I still was misdiagnosed. I didn't think to get a second opinion, cuz I went from a primary to an ob. I was like, oh, those are two doctors and they're kind of agreed. So, you know, it ended up being eight years later, that when I, from like the start to the, to the end where I ended up just in excruciating pain. I went in for a hysteroscopy. We were trying to get pregnant with my second child and we were having issues getting. and so we were gonna start a fertility journey and they, you know, kept telling me that I might need to have the tube removed this tube that they thought was blocked for all these years. So they went in, did a hysteroscopy about two days after my surgery. I was in excruciating pain. and I was calling the doctor thinking it's gotta be related to this surgery I just had. They were telling me to take ibuprofen and I was taking like three of 'em, which lo and behold, I have an AVM in my brain, so I'm not

Raylene Lewis: 9:22

No, I was thinking first. I thought when you said that I was like, oh my gosh. And she has HHT

Stephany Zumerling: 9:27

yeah. So no, I shouldn't be taking ibuprofen. Terrible advice. But she told me, take ibuprofen and basically use a heating. Well, after seven days of torture, I finally got the courage to just go to the emergency room. I finally said, I've had enough, and I kept thinking, they're not concerned. I keep calling the doctor and she's not concerned. So finally I went. They did a CT scan. Very first thing the colon and rectal doctor came in and he was like, you have a tumor on your appendix. And he is like, I'm gonna consult with your OB just because you've been seeing this OB for years, and you know, blah, blah, blah. So I'm gonna show him the CT and see if he agrees with me, but this is what I'm thinking. He showed it to my OB and my OB still denied. He still said it was my tube. They wanted to send me home. It was the weekend of 4th of July. They were gonna send me home. He was like, your tube is not, it's not an emergency. We can put you on some tramadol for the weekend, and then after the holiday we can schedule to have you come in and have the tube removed if it's causing you this much discomfort. I was like, discomfort. They gave me like all the drugs. Fentanyl. Like they had to gimme it all because I was So, you hurt so bad? Yeah, nothing. Like, they would give me stuff and like nothing was touching this pain. So I'm like, you're gonna put send me home with tramadol. Like what? So then I was thinking I was going home and then the colon rectal guy came back in and he is like, you're not going anywhere. He's like, I just sat there and reviewed your scan. I watched he's like, I, I honestly, I've looked at it all night long. And he's like, no, I'm like 99.9% sure that this is. Tumor on your appendix and you're not going anywhere. He's like, if your appendix first one, you could die. Two. Yeah. Because you can go septic and three, if that tumor breaks, it's gonna just, you'll be riddled with cancer. Cancer. Exactly. And so, so thank God he pushed for surgery. Like he was like, I'm not sending you home. You're having it this weekend. They all went in together. It was him. And two obs went in my ob and then another OB went in and. they came out and yeah, it was my appendix. Nothing was wrong with my tube. They actually had to take out a portion of my colon as well. Cause it, the tumor had grown into my colon.

Raylene Lewis: 11:40

Mm-hmm. luckily it was a slow growing cancer. My God. It

Stephany Zumerling: 11:43

was a very, yeah. Thank God. It, I, that's what I have is low. Low grade neoplasm is the diagnosis. But yeah, it's a very slow growing cancer, so I was able to live with it for all those years, but it did spread. Unfortunately, it spread to my diaphragm and I'm still under watching weight every six months. I go for scans now, basically forever, and I had a surgery after I had my daughter about six months after Typically. Waiting for the cancer to spread enough that I would need a larger surgery called pec, because that's really the only way that they can treat that this, this type of cancer. It's a heated chemotherapy.

Raylene Lewis: 12:20

You know, I haven't really talked to anybody about this because I feel so guilty, but Kyler was diagnosed with concussions. For sure too, maybe three times prior to us discovering his a v m. And I go back and I think, you know, I kept thinking, really, he has a concussion. You know, like, they were like, well, did he hit his head? And I'm like, well, I mean, he was on a mat, he was at a gym. I mean, I guess maybe, possibly, yeah. But now that I look back, I know that those were bleeds. They were little micro. Microbleeds. When I finally went to the doctor when he didn't, he didn't remember anything for more than two or three seconds, you know, was showing all the signs of stroke. Even though at the time, you know, as a mom, I didn't even know that a kid could have a stroke. I mean, that was really the first time that I stepped up because the doctor said, you know, they gave him a shot. They gave Carla a shot and they said, take him home and put him to bed. I can't even, I mean, where would we be? If I, it, it haunts me right now even to say that out loud to say that. And when I said, can you please come back in the room, because I don't think this is a migraine, I don't think that your, you know, conclusion was correct. He was so condescending of me. Oh yeah. Well, if you don't think it's right, you know, you can drive the hour and a half to the hospital and see if they'll do a CT as if it was like, so dumb,. right? And then I'm like, yeah, well maybe I will

Stephany Zumerling: 13:55

That was the first time. Yeah. And sometimes you do just have to get to that point where you're like, okay, I will then goodbye. Yeah, exactly. I feel like we put, and I mean there are amazing doctors, like thank God for the colon rectal guy who like looked at my scan, took the time, like his bedside manner was. I wish he could be my doctor for everything. And so you do, you have these really amazing doctors, but then there's so many of them and like we tend to put doctors on these like pedestals. Yes. Like they're doctors, like they're above us and they know more than us and like we have to listen to them. And then the older I've gotten and the more experienced that I've gone through. I don't have to listen to you. Like if I don't like your answer, I don't have to be okay with that. And like, I feel like because of like what I've struggled with over the years of like trying to get answers for myself, like, I mean just my h h T alone, my mom has h h T, she is 74 years old. She had no idea. Mm-hmm. no idea that she had h H T for all that time and she suffered a stroke 13 years. From her AVM in her lung that she had no idea she had, she suffers with nose bleeds. She has AVMs throughout her GI system, so she was having bleeds. She needed transfusions. She had no idea she had H H G with all of that background. She had no idea. Nobody had diagnosed her and me and my brother, cuz it's genetic. So both me and my brother have it. Two of my brothers don't. Two and then me and my one brother do. Sure. None of us knew anything until I finally one day was like, I've had enough. Like there is something wrong. And thank God, like honestly, I feel like my appendix cancer was almost like a blessing in disguise, like asakia as it is to have, after I had my daughter, I started suffering from migraines almost daily. And I finally went to my surgical oncologist because he's a doctor that I trust and I like and I. Something's up. Like I, I thought it was hormonal at first, cuz I just had my baby like six months ago. But my migraines are just getting worse, like something's up. And because of like my history of having cancer at such a young age, he was like, you need an MRI now. Yeah, most likely. If I didn't have my cancer diagnosis, they would've just put me on migraine meds. But because of my, my history, he was like, we're not messing around. And thankfully they did. Cuz then they found my avm. When they found my AVM and I, they called me, I think they were expecting me to say like, I don't know what an A V M is. Yeah, because most people don't. And but I didn't, I said my mom had a stroke from an AVM 13 years ago, and that's when we started like piecing it together because they were like, wait, you have an AVM and your mom has an avm? and then I had an angiogram and they found that I have actually two brain abms. And then they did a CT scan on my chest and found that I had two in my chest. And they were like, you absolutely have H, H T. And then I went through the genetic testing and then we were able to get my roller tested, my kids tested. If I didn't push, I would've never got this diagnosis for my family. Like not just me, but like my kids. when I was a kid, I suffered with my migraines, with my nose bleeds, with, you know, all these issues with weight loss, with petechia, like where my skin bleeds. Mm-hmm. And we had no idea what any of this any of this was. And now like for my son and for my daughter who both carry the genetic disorder as well, now I can advocate more for them. I've learned through. What I've gone through that I don't have to like what this doctor thinks. If I want a new doctor or I want them to do another test, like I just have to tell them.

Raylene Lewis: 17:42

The way I think of it is, I'm not crazy I'm not crazy. I'm not crazy. There is something wrong, and if you're not listening to me and you're not doing the test, then clearly you are not the right professional for me because I am not crazy and there is something wrong.

Stephany Zumerling: 17:57

At one point I finally was like, well, maybe I am making this.

Raylene Lewis: 18:01

You always second guess yourself. It's, it's, it's human nature, you know,

Stephany Zumerling: 18:05

like, yeah, maybe I do have anxiety. I don't know. No, I was never wrong. I've never once been wrong.

Raylene Lewis: 18:11

Stephanie, thank you so very much for coming and talking to us today and sharing your story and really the story of your whole family with H H T.

Stephany Zumerling: 18:20

No, thank you so much for having me. It was a pleasure. I, I just hope that by listening to me, it gives parents the courage to. You know, second, third, fourth opinions if needed, you and your family.

Raylene Lewis: 18:31

Take care. All the best. Thank you so much.

Stephany Zumerling: 18:33

You too.

Raylene Lewis: 18:34

In chapter nine of our focus book, Suffer Strong, Katherine talks about the journey of redefining loss and gain she believes. This journey was never meant to be undertaken alone, but to be wrestled with and learned from alongside other people who are trying to do the same thing. It is natural, she says, to isolate ourselves when we are afraid or to stop putting ourselves out there when we have lost something precious. And although there is absolutely a time for private grief, community is the scaffolding around the whole process of healing and suffering strong. Today's quote is by Benjamin Spock, trust yourself. You know more than you think you do. I always like to end our time together with a motivational song recommendation. I don't play the song because of copyright laws, but there have been several times throughout this journey where a song has really spoken out to me and help me with my day. Today, I'm recommending you check out. Everybody wants to rule the world by Tears for Fears. From the 1985 album songs from the Big Chair, the Super Deluxe Edition. "Welcome to your life. There's no turning back. Even while we sleep, we will find you acting on your best behavior. Turn your back on Mother Nature. Everybody wants to rule the world." And as always, if you have questions, have a topic you would like to hear about, or a great song or motivational quote, don't be shy. Share it in the comments and let us know. And if you liked what you heard today, please go online and rate this podcast. Remember, you're never walking this journey alone. Take care y'all.