Navigating Life with HLHS and Marfan Syndrome: Rachael's Powerful Story

Discover the remarkable resilience of Rachael Gott, our extraordinary guest born with hypoplastic left heart syndrome (HLHS). Despite her condition remaining uncorrected, Rachel has navigated a complex medical journey, including ten cardiac ablations and two device implants, all while avoiding open-heart surgeries. Rachael also faces Marfan syndrome, which adds another layer of complexity to her life. Join us as Rachael shares her inspiring story, highlighting her ability to overcome innumerable challenges and offering hope to others with congenital heart disease (CHD).

Rachael's journey is one of incredible strength and persistence. She opens up about her experiences with multiple heart rhythm issues and the difficulties posed by various medications. As she discusses her forthcoming plans for an open-heart Maze procedure and potential heart and kidney transplants at the Cleveland Clinic, Rachael provides us with a unique glimpse into the emotional and physical toll of living with severe heart conditions. Her late diagnosis in her twenties brings a poignant perspective on the emotional reactions of her parents and how they coped with the news, underscoring the importance of a robust support system.

From a seemingly normal childhood filled with sports, singing, and dancing, to the shocking discovery of her condition following severe chest pain, Rachael's story is a testament to the human spirit's endurance. The medical community's awe at Rachael's case highlights the rarity and complexity of congenital heart defects like HLHS. Rachael's experience underscores the importance of community support and the strength she’s found in connecting with others facing similar challenges. Tune in to hear her express gratitude for these connections and learn how her journey may soon be shared in a book about resilience.

Thanks to our newest HUG Patron, Ayrton Beatty and long-standing Patrons: Laura Redfern, Pam Davis, Michael Liben, Nancy Jensen, Alicia Lynch, Deena Barber, Carlee McGuire, Carter & Faye Mayberry, and Frank Jaworski. We appreciate you!

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• 0:00 H2HwAnna&RachaelGott
• 9:51 Segment 2
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• 11:29 (Cont.) Segment 2
• 22:27 Segment 3

Transcript

Speaker 1: 0:00

You got to keep pushing. Take one day at a time, one test at a time, one appointment at a time and at the end of the day it will all be okay.

Speaker 2: 0:08

Welcome to Heart to Heart with Anna. I am Anna Jaworski and the mother of an adult with a single ventricle heart. That's the reason I'm the host of your program. Today's guest is Rachel Gott. She was born in 1988 with hypoplastic left heart syndrome. To date she has had 10 cardiac ablations and two device implants, but no open heart surgeries. A loving auntie, rachel currently resides in Indiana. She is a passionate supporter of other CHDers on their journey and in her spare time she enjoys gardening just like I do. Welcome to Heart to Heart with Anna Rachel.

Speaker 1: 0:47

Thanks for having me, Anna. It's nice to meet you.

Speaker 2: 0:50

I'm so excited to meet you, sweetie, and you are the very first and the oldest congelative heart patient that I've ever spoken to who said you had uncorrected HLHS. It's amazing you had uncorrected HLHS, it's amazing. So hypoplastic left heart syndrome, my friends, or HLHS, is often a term that's used to actually cover a variety of conditions. It's like an umbrella term. So, rachel, can you share with us exactly what your conditions are, that you were born with?

Speaker 1: 1:19

Yes, I was born with hypoplastic left heart syndrome, meaning that I have one atrium and one ventricle. I am single vent. I was also born with Marfan syndrome and it's very rare for a woman to come down with that connected tissue disorder because it's mostly found in men, especially of tall stature, and I also have complex rhythm issues for being uncorrected.

Speaker 2: 1:51

Wow, I didn't know that Marfan was more common with men than women, because the only other person I've known well who had Marfans was a sweet young lady who was a student of mine when I was at the School for the Deaf.

Speaker 1: 2:06

was a sweet young lady who was a student of mine when I was at the school for the deaf. Oh wow, yeah. When I went through all my genetic testing, they said that nine times out of ten morphine is found in men versus women?

Speaker 2: 2:17

Wow, I did not know that. Okay, so you have a single ventricle heart. You also have a single atrium, which is interesting. What about your valve, sweetie? Do you have good valves?

Speaker 1: 2:30

No, all four of my valves are leaking. I also have a bicuspid aortic valve with severe regurgitation and stenosis, so I'm getting both sides of that sword it's narrow and then it's leaking. I do have the ascending aortic aneurysm tube branching off, and then my other valves are leaking as well.

Speaker 2: 2:55

So how is it that you have been obviously seen by a cardiologist, since you've had 10 ablations, but they never did a palliative open heart surgery on you?

Speaker 1: 3:07

Right. The surgeon would say well, you have a 50% chance of survival or you have a 50% chance of death. So no one has really felt comfortable up until this point to dive in there and correct things, because I was so young and they didn't want immortality on their hands.

Speaker 2: 3:29

Wow, okay, wow, I'm just stunned. You're the first person to tell me that. And yet they felt okay to do the ablations on you. So you've had 10 of them. Good heavens. The ablations on you, so you've had 10 of them. Good heavens, rachel. My heart just aches for you 10 ablations.

Speaker 1: 3:52

That's a lot to go through. Did they do a maze procedure on you? They will be doing an open maze procedure in Cleveland when I have my open heart surgery. When I started going to an EP down here in my hometown, we found out that I was in a 38 EBC burden, meaning I was throwing extra beats, I had blocks, I had a left bundle branch and I still have my right bundle branch and I was intolerant to medicine. We've tried all the arrhythmic medicines you can think of and, being in systolic heart failure, it would severely lower my blood pressure and it just accelerated my symptoms to where I wasn't able to get out of bed. So that's when we fast forward to doing all these ablations, because that was the only thing working. So my transmission got knocked out and my heart stopped beating throughout the night and I had to have a permanent pacemaker put in.

Speaker 2: 4:52

Wow, oh my goodness. So I read in your bio that you had two devices, so one of them was a pacemaker. What was the other device implant you had?

Speaker 1: 5:04

So the first device implant that I had put in was a loop recorder that was just a constant 24-7 EKG, if you want to be honest. So they always monitored my heart rhythm and then we went into the pacemaker when my heart stopped beating then we went into the pacemaker when my heart stopped beating.

Speaker 2: 5:28

Okay, so you are a very complicated case, my dear. You've got a lot going on, but you just told us that you are planning to have an open heart procedure and an open heart maze procedure, which is what my child had when she had her Fontan revision. They went ahead and did a maze procedure on her at the same time and that has been, knock on wood, very successful so far, and I'm very thankful that they were able to do that at the same time, and I'm sure you will be too, since you've had 10 separate procedures. What is the Cleveland Clinic going to do to help you?

Speaker 1: 6:02

I have a phenomenal team at the Cleveland Clinic. I have been so blessed and so fortunate to have that door of opportunity just sling wide open in front of me. They are planning on doing it's correct. They're in heart surgery surgery. Their bridge got me over to transplant evaluation and to start that process so tentatively. The last plan I heard was doing a reverse Ross procedure closing up a couple holes, doing the open maze for my rhythm and taking out the aneurysm and fixing some valves. So I might have all four mechanical valves. I might have two. If it's two mechanical valves, it'll probably be the aortic, for sure, and the pulmonary. So they're going to try. With my vitespin valve I have only two flaps instead of three. So they're going to try the OCA repair first. If the repair fails then they will go into putting it in a surgical valve.

Speaker 2: 7:15

And all of this is in an effort to prepare you for transplant. Yes, ma'am, are they talking heart lung or just heart transplant?

Speaker 1: 7:26

Probably heart kidney. I was premenstrual and was born with a small right atopic kidney is what they called it. It's substantially smaller by three, four centimeters and with the long-term diuretic usage that I have had, being in heart failure, that kidney's probably going to pose some issues the further we get into this.

Speaker 2: 7:53

Wow, that's a lot to deal with. Well, talk to me about how your parents reacted to your diagnosis and when was your diagnosis?

Speaker 1: 8:04

My diagnosis was in my late 20s, so it's been about six, seven years ago since I first found out and, as far as my parents go, they have a very unique way of handling it. My mom carried around a lot of guilt when we first found out because I was a premature baby and she thought it was something she did or didn't do that caused the problem. And we've had long talks saying, mom, it was 100% nothing you did, it was just God's plan for my life and that's okay. You did, it was just God's plan for my life and that's okay. And with my dad he has coped with it in the manner of joking, which is fine. You know men deal with it differently than women, so it's been interesting to hear some jokes that he's cracked along the way just to keep the mood light, keep, keep my spirits up and helps him deal with it as well.

Speaker 2: 9:10

I'm just stunned, Rachel. You were in your 20s before they diagnosed you with HLHS. Yes, I was in my late 20s. That just boggles my mind. What was your childhood like? Were you a sickly child?

Speaker 1: 9:26

That's the thing, anna. I was super blessed to have such a great childhood. I did have some limitations at the time that were unclear. Obviously, with Ronnie I fumbled with that turned blue, but I was active. I sang, I danced, danced, I did orchestra. I was living my normal childhood life until my late 20s.

Speaker 2: 9:57

I am just flabbergasted, rachel, that you were able to live a normal life, that you were able to play sports and do normal things, and then, all of a sudden, in your late 20s, you're diagnosed. What was the precipitating event that, all of a sudden, the doctors realized, oh my goodness, this woman has a heart condition, a major heart condition.

Speaker 1: 10:22

I had those feeling unwell for quite a while, never really knew or understood what was going on and just chopped it up to okay, season changes. Maybe it's a cold, but I did have some really scary chest pain and that's what initially prompted us into the emergency room. And that truth powered into oh hey, we've done some logs your high enzymes are really high.

Speaker 1: 11:31

My CAT scan came back but showed I had been a thoracic aneurysm in my chest that was of a substantial size and the ER doctor suggested hey, you know, you really need to get in to see a cardiologist AFAP, this is serious. So we did that and that's how it just transpired into finding out you were born this way, with a single ventricle, with a connective tissue disorder, with a lot of rhythm problems, and it's just been a domino effect ever since.

Speaker 2: 12:07

Okay. So what has me puzzled is that I thought HLHS and single ventricle were critical congenital heart defects that required some kind of open heart surgery or some kind of palliative procedure in the first year of life, or else you would die. That just is amazing. Were the doctors completely stunned?

Speaker 1: 12:30

I will say I have an EPND who is like a father to me and because you said that the first thing out of his mouth was, he looked at my mom and said your daughter is a walking living miracle. Yeah, absolutely because, I was so sick when I got up there and he's like I don't understand how she was able to have an eternal childhood, let alone do the things that she was fortunate to do amazing, truly amazing.

Speaker 2: 13:02

Okay, so this is a lot for you to take in. You didn't find out until your late 20s. Did you go to college or some kind of trade school or anything like that after high school?

Speaker 1: 13:14

up and on we did working and stuff like that and then I just got super sick to where I couldn't do much of anything anymore.

Speaker 2: 13:23

Sure, yeah. I mean, it's amazing to me that you were able to do as much as you did. It's truly amazing. When did you first start having rhythm issues About?

Speaker 1: 13:34

two or three months after I first got diagnosed.

Speaker 2: 13:38

Oh, wow, so you never even had any episodes of fainting or lightheadedness or anything like that, even when you were a kid and you were outside running and playing with the other kids.

Speaker 1: 13:51

Oh, yeah, it just. It all hit me. Like I said, it was a domino effect. In my late 20s I couldn't catch a break Every time I turned around. It was something that I never experienced growing up as a child.

Speaker 2: 14:04

Wow, just amazing. Okay, all of a sudden you're told hey, you have this really major genital heart defect and we don't want to touch you because you're old. No offense, honey, but if you weren't diagnosed until your late 20s, I'm sure people were just flabbergasted. It's like, oh my gosh, what do we do? I'm sure nobody had presented in their clinic with your situation. I mean, I've never heard of this. My kid's going to be 30 this next month and I've never seen anybody written up in the literature. Now, honestly, I'm not a doctor, I'm just a heart mom. But this is just so amazing to me Although I will say now that I say that way, way, way back almost 30 years ago, when I first started doing my research about HLHS because that's what my daughter was diagnosed with as well I read this really old study that was just one doctor's case study where he was talking about his patients with HLHS and how he had met somebody in, I want to say, his 40s who had been born with HLHS.

Speaker 2: 15:28

But it wasn't typical HLHS and, like I said at the beginning of the show, hlhs is kind of an umbrella term. Just because you've met one person with HLHS doesn't mean that the next person you meet who has that diagnosis has the exact same condition. For example, you said that all of your valves are leaky and you've got a bicuspid aortic valve. My daughter's valves were okay, which is really surprising. Most people with HLHS do not have valves that are okay.

Speaker 2: 16:00

But my daughter also had detransposition of the great vessels, which is not a typical classic HLHS diagnosis. So that's why whenever I meet somebody now who has HLHS, I always want to know what conditions were you born with? Because HLHS is this umbrella term that so long as you have several of the typical conditions, such as a hypoplastic left ventricle, that's the critical one, and usually some other conditions as well then they go ahead and classify you as HLHS. And it's funny because over the years they have refined how they label children, and so now my daughter is not diagnosed with HLHS. After her third open heart surgery they said we're not going to call her HLHS anymore, we're just going to call her single ventricle.

Speaker 1: 16:51

That is so amazing and it's interesting how 30 years can make such a difference and everybody diagnoses like you said, it's an umbrella term. Nobody got the same.

Speaker 2: 17:03

No, everybody's a little bit different, so it's interesting for me to hear some of the different kinds of conditions.

Speaker 2: 17:10

Now my daughter developed an aortic aneurysm after she had the Fontan. So I was surprised when I was reading your intake form and it said that you had an aneurysm and you're doing well, even though you saw it, and that it was growing. For us that was something that was really scary and that was what led to my daughter's Fontan revision. So I'm not surprised that the Cleveland Clinic said we really need to go in there and we really need to take care of that aneurysm. So it sounds to me like you're going to have quite a series of procedures done on you in the Cleveland Clinic. They're going to take care of your aneurysm, they're going to give you an open heart maze procedure, they're going to look at your valves to see if they can improve the situation with your valves so you don't have so much leaking, and they're going to try and help prepare you to have your heart in the best condition it can be in so that it can be ready for transplant. What are you doing to help yourself mentally and emotionally prepare for this surgery?

Speaker 1: 18:22

Well, what I can tell you is, with being in diastolic and systolic heart failure, I'm completely exhausted to begin with, and then adding the fact that, hey, you're having a major open heart surgery, that you have to prepare for it. It's tiring, but I have found hope Speaking with my friends that had had open heart surgery before me, playing and playing into support groups and reading forums and trying to get myself in the best state mentally I can be. Ultimately, it's in God's hands, right, and I know he's going to see me through it. So if I didn't have faith in that, then I wouldn't have faith in my surgery. So I put my faith and trust in God and I put that same faith and trust into my team and, with the collaboration of everybody, we'll get through.

Speaker 2: 19:22

I love that positive attitude that is going to get you so far. It doesn't sound to me like you are in physical condition where you can do any exercise to help prepare yourself. Have they taught you any of the rehab exercises they're going to want you to do after the surgery?

Speaker 1: 19:43

Actually I was required by my team in Cleveland to do what they called pre-cardiac rehab phase two. So I went in initially for a CPAP. For those who don't know what a CPAP is, it is a cardiopulmonary exercise stress test to see how your heart and your lungs work together. We did a six-minute walk test to test strength and endurance and then we went into a more modified, safe exercise plan. I have done this twice.

Speaker 1: 20:19

The first time I did it back in February, I was able to complete three full weeks before I suffered a small type 2 non-stimmy heart attack, meaning that it wasn't a heart attack related to a coronary artery disease disease. But I did have some ST changes from that and it was due to exercise. And my doctor said oh, it's common for people who have advanced heart failure to suffer a small type 2 aneurysm. So it wasn't all that comforting. But but moveless is anything. We did round two and it's been going well, no problems, I can safely exercise. I know my limit. I have an exercise bike here and some weights. So when we flip into the home exercise program for another 12 weeks, I feel safe. I feel comfortable in doing what I've been doing in clinic.

Speaker 2: 21:22

That's amazing. I love that. So now you already know, since you're, it sounds like you are preparing your heart as best you can for what you're going to have to do after the surgery. Right, You'll be doing these same exercises after your surgery.

Speaker 1: 21:40

Yes and no. The thing with pre-op cardiac rehab is it's only phase two where after my surgery I will go through all three phases of rehab. So I will meet with different doctors. A dietician no-transcript than the modified plan I've been doing at Cincinnati Children's but with what we're focusing on at CCH, will help me for sure do the cardiac rehab after my surgery in Cleveland.

Speaker 2: 22:20

I noticed on your Facebook and Instagram pages, Rachel, that you are passionate about spreading awareness for congenital heart defects. Can you tell me when you first started to become an advocate for the CHD community?

Speaker 1: 22:34

It was right after I found out about my diagnosis I got in touch with a wonderful, incredible lady. You might know her. Her name is Amanda Harper I do know her might know her.

Speaker 1: 22:51

Her name is amanda harper. I do know her well. She actually just had her double transplant heart and liver at the cleveland clinic. So we became super close and she literally plugged and placed me into all things chd sisters by heart, conquering ch Cafe, chat and I have met so many friends and so many doctors. I've gone to so many different conferences and it has just been an absolute blessing to be able to conversate with people living, walking, talking, breathing the same thing that I'm living with on a daily basis.

Speaker 2: 23:29

Did you know anybody who had a heart condition before your heart condition was diagnosed?

Speaker 1: 23:35

Absolutely not. I had no idea what CHD was. I was completely clueless and I had no idea that it was the number one birth defect in the country. I'm right there with you, my dear. I had no idea that it was the number one birth defect in the country.

Speaker 2: 23:49

I'm right there with you, my dear. I had no idea until I had a child with a heart condition and I was a special ed teacher, so I knew all about all different kinds of conditions and I worked with children with lots of different problems. But I worked with the deaf and hard of hearing mostly and we pretty much presumed that the heart would be okay. But that's not always the case. And now I kind of wish I could go back and look at my students' folders a little bit more closely, because I wonder if any of my students had heart conditions and they just didn't tell us about it. I imagine they did, because we know that it is the number one birth defect.

Speaker 2: 24:29

I have discovered, since my own child has been born with a heart defect, that there are children who have congenital heart defects who also have problems with their ears, because the ears are developing and the sense of hearing all of that is happening at the same time the heart is developing. So it's pretty amazing how the general populace does not know about congenital heart defects. So I commend you for getting out there right away and doing your part to educate the community. Amanda Harper for being a quick friend and helping to introduce Rachel to all of the different organizations and opportunities to meet other people, because I think that's life-saving, don't you, rachel?

Speaker 1: 25:19

It hands down is life-saving. People don't understand what you're going through until they live it right along with you. So, yes, parents can be supportive to a point, but it's really reassuring, at least to me, to have other people that I can fall back on when I'm just not having a good day.

Speaker 2: 25:43

Absolutely. I'm sure your mom and dad love you to death and would do anything for you, but they haven't walked the same road that you're walking right now. So having someone like Amanda, having someone like one of your other zipper sisters or somebody else that you've met in a CHD chat room to talk to, makes a huge difference, because they know what it feels like to be out of breath. They know what it feels like to wake up and feel more tired than when you went to bed the night before and just wondering how much longer is this going to go on. They can say I've been there too, it's going to get better, and give you that reassurance because they've been there. Oh, absolutely. What's the most important thing that you've learned, rachel, about yourself, as you have learned about the fact that you have this complex congenital heart defect?

Speaker 1: 26:38

I have learned that there's more resilience and strength in me than there's ever been. I'm sure it's been there this entire time I mean, life's been going on up until my late 20s I wasn't sick. I didn't have any reason to rush to the doctor. I didn't have a debilitating condition. I feel like being sick with my condition has rejuvenated my strength, not only in myself but to help others as well.

Speaker 2: 27:10

So it's almost like it's given you a new lease on life.

Speaker 1: 27:14

It really is. I have found a new calling in my life, for sure, yeah me too.

Speaker 2: 27:20

Having a child with this condition totally opened my eyes to a whole part of the world I didn't know existed, and I really felt that God gave me hope and gave me a new mission, and that was to help other people to better understand what they were facing having a child with a heart condition, because 30 years ago there weren't a whole lot of adults to talk to. It was mostly parents that I was communicating with, and it has been so rewarding to watch this field blossom and grow over the last three decades. It really has been an amazing journey. So what pearls of wisdom would you share with others who are also living with a complex congenital heart defect? Rachel?

Speaker 1: 28:08

You're pushing on. Every day brings new mercies, new grace, new light. Your condition is temporary. Nothing is permanent. Take one appointment at a time, one day at a time, because if you try to fast forward to tomorrow or six months from now when you're having a surgery, you're just going to stress yourself out and overwhelm yourself to the point where you might not want to go through with what you're doing. You got to keep pushing. Take one day at a time, one test at a time, one appointment at a time and at the end of the day, it will all be okay.

Speaker 2: 28:46

I love it. It's kind of like carpe diem live for the day, right, exactly. I cannot believe our time is up already. Rachel, thank you so much for coming on the program and for bringing so much positivity to my day today.

Speaker 1: 29:02

You have just been a ray of sunshine, sweetie, oh, thank you so much and I'm super, super blessed to be here and to connect with you and read all the good books out there and I'm hoping maybe I can help you guys with your fourth book and put my bio in there and reach a whole new audience.

Speaker 2: 29:23

Oh, I would love that. That would be so amazing. I would love for you to write for the fourth book. We'll be talking about resilience. That is definitely one of the main themes in book four. So, yes, we'll have to talk some more about that. But, my friends, that does conclude this episode of Heart to Heart with Anna. Thanks for listening today. Please consider becoming a patron of our program by visiting patreoncom slash heart to heart, or if you're listening on Spreaker or Buzz Sprout, you can support us. That way, for the cost of a cup of coffee, you can help support the program and it's so greatly appreciated. Or even visit our website, heartsunitetheglobecom. Thank you so much for listening, my friends, and remember you are not alone.