Community Voices: Sarah Fulop "My journey to a diagnosis of vEDS."

- Hello! I'm Sara Fulop. I live here in San Diego, California. It's sunny, as always. (laughs) I am currently a biochemist by training. I work for a company here in San Diego, but my parents are Hungarian immigrants, so most of our family is in Europe. But since I'm Hungarian-American, I was born and raised here in San Diego. I guess today I just wanted to share my story about a

diagnosis

. I was diagnosed with Vascular Ehlers-Danlos in April 2020, so it's been a little over a year. But there have been a lot of ups and downs and I'm so excited to be able to share today our

journey

to

diagnosis

and what we've learned, and I hope my story helps other people too.

So about 21 years ago, I'm one of eight kids, so my parents immigrated in the '80s and had eight kids. And my brother, when he was 15, I was like three at the time, so I don't remember. He had an aortic dissection. He was a healthy 15 year old boy, there were really no signs that anything was going on. And in less than 12 hours he started to feel symptoms and, finally, my parents took him to the emergency room. And by the time they realized what was happening, it was too late to do anything. Then he died of an aortic dissection.

And at that time, Marfan's was a little better known, so they wondered if he would have had a Marfan gene. So there weren't really any warning signs. He never had any heart problems, or really any medical problems that would have caused a dissection. And at that time they gave us physical tests to detect Marfan syndrome. You can't see me in person, but I'm five-two and 102 pounds, so I definitely don't fit the profile of Marfan and most of my family, my brother was a little taller. But we just did some physical tests. My sister had a heart murmur, but other than that, neither of us had any indication of vascular disease.

So we didn't really get any answers, and they just said maybe I had a random Marfan mutation, and they just left it at that. And so, as he grew up, I was hurt very easily. My sister and I slept with our eyes a little open and my sister sprained her ankle a lot. And then I had TMJ problems and headaches, but nothing serious, nothing that indicated something more serious was going on. Fast forward 20 years to 2019, I started feeling very weird, had chronic headaches, and started feeling a lot of numbness on the left side of my body.

And I had a really bad fainting episode and I went to the emergency room and they couldn't find anything. And then my mom pushed for me to get an MRI. And then after the MRI, I saw a certain neurologist and all that, and I was actually diagnosed with MS in April of 2019. And it was like out of nowhere. I was in college and I think a lot of the stress had exasperated a lot of the symptoms. And I had had a lumbar puncture and I had had this spinal headache for a week and I couldn't get out of bed, I couldn't sit down.

And it was a terrible experience. Then strange things were already happening in my body. And then the week after my lumbar puncture, I felt a really strange pain in my stomach. I felt like someone had punched me in the stomach and I couldn't breathe. And things weren't happening, so I thought it was in my head and I thought, "Okay, what is this weird thing?" And even my mom said to me, "Are you sure you're not going crazy?" And I finally went to the ER that day and they told me that maybe I had torn a muscle from doing yoga the day before.

But the next few days, the pain continued. I went back to the ER once or twice and didn't really get any answers. And for my MRI, my doctor, my MRI for MS, said, "Oh, you have weird things around your chest area, maybe you should get a CT scan." So I thought, "Okay, maybe I should get it." And then the next day they did a CT scan and they saw all these blisters on my lungs. And then, they had actually found a pneumothorax. And so, that year I had four pneumothoraxes and, in fact, one surgery to prevent them.

And nothing helped. They tested me on everything they could think of in the book and couldn't find anything wrong with me. So this was all of 2019. And he basically said, "Well, you're stable now, but I really don't know what's going on." And then in March 2020, my sister was nine months pregnant. And she came in with high blood pressure and they induced her because she was diagnosed with preeclampsia. And then, over the next two days, she had to have an emergency C-section because her liver lacerated or burst and her placenta ruptured or detached. And so it was, they took the baby out, and luckily the baby, her name is Juniper, is safe and sound, but my sister went downhill very quickly.

And then for the next few days, she was stable but heavily sedated. And they finally got her bleeding under control, but then her mitral valve regurgitated. And then in the next week and a half, she ended up suffering a rupture of the papillary heart muscle, as well as a rupture of the colon. And two weeks later, she passed away. And during that time we had a feeling that it might be Ehlers-Danlos vascular syndrome. My mother had told them about my brother and me and how we never had answers. This was at the Cleveland Clinic. She finally underwent genetic testing and sadly passed away, but she tested positive for the collagen gene COL3A1.

And then we all got tested after that and I tested positive. And my mom was a carrier and they think that's what my brother had. So in April 2020, I had just lost my sister and found out I was diagnosed with this condition. But one thing was the pain of losing my sister, but honestly when I found out about this diagnosis I almost felt relieved because for a year things were happening and I didn't know what was happening. And it was really stressful not knowing what was going on with my body. It took about six months for my brain to really understand what it meant.

And so, from about November or December, I started connecting, I connected with the vEDS Movement and also with the Ehlers-Danlos Movement, and I met a lot of people in the cohort. And, sort of, in this early stage of trying to figure out how to deal with my own health and how to navigate the reactions of my parents and my family. And there is a lot of trauma because I have lost two brothers because of it. And luckily, no one else in my family has it and my niece didn't inherit it either. But not only did I lose my sister, I also felt like I lost an ally.

And it's not that I don't want any of my other siblings to have it, but I've felt very alone. And my mom has a mosaic mutation, which means that she has a mutation in one part of her body, but not in her entire body, but enough to transmit it to her children. Really, I'm the only one in my family who is really dealing with this right now. And if I don't have children, the mutation ends me. And so, it can be a lonely road and trying to navigate how I live life and deal with this. So it's confusing at times, but I've been very grateful to connect with the vEDS Movement and people like the Ehlers-Danlos, and I've been very encouraged by the positivity and justice of the

community

here.

And I'm really humbled by so many people, they've been through so much and yet they're so positive. And I felt like I found a family in many of the connections I made, they helped me a lot. And also in the last few months I have been able to help other people who have been recently diagnosed. It's not something I would have ever wanted, but it's what I've been given. And it's been encouraging to see the connections I've made through it. And I have that passion of, just, if I can educate people, or at least help more people get diagnosed so that they don't have to go through the same sad story that many of us have gone through. losing people we love until we are finally diagnosed.

I am very excited about this event and truly honored to have been able to share my story. So thanks.