I am a 23 year old recent graduate, with a rare heart disease called Hypertrophic Cardiomyopathy. I was diagnosed due to the death of my brother. AMA!

What has been recommended to you for treatment?

My ex-husband has this condition and has had open heart surgery twice in the past 22 years. The doctors say that our children have a high chance (50%) of having the same condition. I'm wondering if the treatment protocol has changed at all in the past 20+ years.

First, I hope you ex-husband is doing well, it must be a difficult thing to have gone through.

So basically I just can't do any super high intensity sports, as they would cause my heart rate to go up and put me at risk of having a heart attack myself. They installed a pacemaker in me about 8 years back, which would make sure that if I DID have a heart attack, that it would likely reset my heart immediately, causing me to not die(hopefully.)

I'm sure your doctors already know this, but there are definitive treatments for people with HCM. Basically it's shaving off the thickened middle ("septal") part of the heart so when it squeezes there's more room for the blood.

• Non-surgical alcohol septal ablation
• Surgical septal myectomy

I've never heard of these. I will research them! Thanks!

Have you had a cardiac mri? Those are some of my favorite studies in radiology.

Yes!!!!

Do you have chest pain when you exert yourself?

I'm supposed to be careful with what I do. I can't do high intensity sports, which is very unfortunate considering I was very talented at soccer. If I do exert myself too much sometimes I do get a bit of mild chest pain, but it's mostly when I haven't exercised as much.

Rather personal and intimate question, but what happens with the condition and being sexually active? If you were having sex, would you be at risk of a heart attack?

I'm not going to say whether I've been sexually active or not, as I should've prefaced this AMA by saying I don't like answering those questions, but it's not your fault(I'm not mad at you) as I didn't specify.

My doctors have never told me that I can't partake in sexual "activities" so therefore I would say it's probably not a concern. It might be a concern if you like to run around the room and then have sex. 😂😂😂

Is there a treatment or do you just have to watch what you do in future? Also good luck to you

Unfortunately there is only treatment and no cure. The good news is most people who are young and healthy like myself, never have issues/shortened life span as long as they listen to what the doctor asks of them. I had a pace maker place within me/surgically about 8 years ago or so, which is a very good safety precaution.

I also can't do high intensity sports.

Do they ever talk about replacing the pacemaker with newer models or is it a pretty permanent, non-changing piece of hardware?

Yes! It's going to be replaced in about 2 years I would estimate? They say it lasts around 10 years usually. The initial surgery caused me to stay in the hospital for about 2 days; this next surgery will be out patient, if I recall correctly.

I know you can’t do anything too high-intensity, but do you have any symptoms when just taking a walk or going about your normal day?

Sometimes I do and sometimes I don't. If I'm walking I sometimes feel out of breath easier, which makes me angry because then I think to myself "if only there were a cure to this I wouldn't be going through this."

It's hard to not get frustrated over it, since so many people are able to do something as simple as running, which I can't do. When I was younger I would run and play sports anyway(such a dumb idea) before I had my pace maker. The thing is I'd always stop after I big run or something, that way I wasn't over exerting my heart; still not a smart idea at all on my part.

It also is frustrating when it comes to weight. I have an overall healthy weight, but I can't help but think that if I was able to play sports/run I'd have a much easier time at losing weight if I ever gain too much.

Are you able to have sex?

I've never been instructed not to.

But you were instructed not to play sports, right? Is cardiac exertion when having sex different than when playing sports?

Genuinely curious

Yes you're correct. I was told to not play sports. Cardiac exertion when having intercourse I would guess is far different than that of soccer or running. I really don't know in depth the reasoning behind it, but if it was important enough they would've told me.

You perv. I came here to ask the same question

I knew it would come up at some point lol

Did you take the covid vaccine? Which one?

I did. I have the first two and the booster; I got Pfeizer. I like this question, I find it interesting.

Why do you find that question interesting?

In other words I think it was a good question to ask.

What tests were done to diagnose the condition when you were a kid? Is this something that would ordinarily be found in someone if you’re not specifically looking for it?

EKG and Echo.

I want to preface with a word of encouragement. I was born with three major congenital heart defects, under went open heart surgery with complete cardiac bypass at 15 months, the first of several surgeries, was 'legally dead' for 70 minutes, and had a recovery course of over 16 years. Finishing up my doctorate studying congenital heart defects and their basis now. It's hard, but you can do it. Physical limitations only define us if we let them, but you clearly already know that. Congratulations on graduating!

How do you feel this has affected your career/life trajectory? What are your goals and do you feel this aspect of your life has influenced them at all?

Thank you so much. That must've been super scary and I am so sorry for all you've gone through. I'm glad you're here.

My current goal in life is actually to help victims of domestic violence. I work with people who have suffered DV, and I hope I can do more. I feel like this aspect has influenced my want to help other people, because I find that I need to do good for my brother. I want to cary his "legacy" in a sense.

I hope I answered that well.

I have a relative who is a firefighter and was recently diagnosed (in their late 20s!) with apical hypertrophic cardiomyopathy and supraventricular tachycardia. I believe she just had a surgical myectomy to cut away some of the thickened muscle. Would such a treatment help you? We're lucky to live near some of the top medical centers for HCM but I don't know much about the potential procedures for HCM in general despite what I've been told third-hand

They really need to find shorter words for these damn things... lmao. And I've heard of that surgery before, the cutting of the muscle, but I don't think it's necessary for me as my case isn't severe enough.

I'm glad your relative is okay, he is okay, right?

This condition is also very common in maine coon cats and it's called "the silent killer" in vet circles; what is something you'd like us to know about your condition?

Wow. I've actually heard of this once before.

Something I'd like people to know is this:

It can sometime cause me to feel depressed because I often feel others don't understand what I'm going through. Luckily my bf understands. I know I can't expect others to know what it's like.

I imagine it's socially very difficult to have a heart condition while appearing young and healthy; I've heard stories from people with similar conditions who get dirty looks for parking in disabled spaces, or using store mobility scooters, or sitting in disabled seating on public transport.

Yes it is. If someone ever says something rude to me, I'd tell them to fuck off. I'm actually a rather calm and kind person, but when it comes to my condition/brother I am rather protective.

It's also difficult because when the condition is discussed, my brother often accompanies the conversation(the topic.) I don't have an issue talking about it, I just sometimes feel the emotions within me, just like when I'm doing this AMA(which I am happy to do.)

What long-term and short-term changes in life you had to make since the diagnosis?

Long term:

-Realizing my kids will most likely have it if I ever have kids, therefore I don't want kids AT ALL--at least not now. To me it wouldn't be fair to bring a child into this world with that. I wish I never had this, I don't want my kid angry at me for having it, nor do I want my kid to have it.

-Realizing sports will never be an option. The hardest thing is I felt I was on a road to success when it came to my soccer "career." I'll never know what I could've done.

-Eating better so I don't have heart issues on top of the ones I have now.

-Warning everyone before I go through a metal detector LMAO

Short term:

Hmmm... this is a hard one. I guess not being able to participate in gym class throughout school. It was very uncomfortable/awkward sitting on the side of the gym room doing nothing, since I barely could ever participate.

There is a process called preimplantation genetic diagnosis that greatly reduces the chance of any children inheriting HCM. You'll need to know what your exact genetic mutation is in order to use it though.

my bf has spoken of something like this before, actually. If this is true then I would consider having children.

Did you have the genetic test for this or was it just picked up on a heart scan? I remember as a kid having to have scans regularly because it runs in my family and then later I got a genetic screening which was negative. Some of my other relatives obviously weren't so lucky, but also they don't necessarily have thickening yet. Just the predisposition to getting it so they still have scans.

Also how long did it take for you to finally manage to say hypertrophic cardiomyopathy properly?

I'm not sure if this is a genetic test, but they sent me into a cardiologist and had me tested to see if I have the same thing as he did. I still go twice a year. I'm really sorry that some of your other relatives didn't do well. I wish things were different and this shit didn't exist.

It took me probably a few tries until I got it right. Not gonna lie I didn't really give a shit(lol) about the people/doctors talking to me at the time(I basically ignored everything they said) because I was angry to be there after what happened to my brother. What I'm trying to say is I didn't care about the term or what it was until maybe a few years later, when I stopped being a little angry shit, lmao.

I am 25, and was born with an enlarged heart and hydrocephalus. Some health conditions go away on their own but some require more effort. For me I was able to grow into my heart, but I needed a shunt put in because of hydrocephalus. Do you think there will ever be a cure, or treatment to help with your condition?

I am so sorry. I will have to research this some more to learn about it. I'm glad you were able to get some assistance. Do you now have a technically normal functioning heart?

I'm not sure if there will ever be a cure. I hope there is. It does cause me some sadness because I am told that I need to just "learn to live with it."

Maybe one day!

My heart works normally now.

I had to learn how to live with my condition. But what helped me is that I found groups both online and in person of people who have the same condition. With them I was able to learn more about the condition and what to expect.

I am so glad to hear this!

When people hear about it, what kind of reaction did you hate or find insensitive? What ways have people responded that have been better?

When people hear about it they're usually very kind about it, but I've had people be not so kind as well. In high school a girl in my class randomly started telling me how her Mom went through difficult stuff like me and that my life is "not that hard" which I found to be very bizarre.

It just was a very gross thing for someone to tell me that my life wasn't "that hard" all because her Mom went through the same thing.

Can you go for a jog? If so how far?

I cannot. Walks are fine though!

I wouldn’t consider jogging to be a “high intensity sport” by any means though. So where is the line drawn with regards to exercise? What can you do/not do?

I'm not sure what the exact heart rate is, but walking is basically the baseline. Jogging does still get the heart rate up higher than other activities.

I can't do heavy swimming either. Anything that would clearly raise the heart rate. I basically can do boring old people shit.

What do you want for Christmas?

I would love an editing computer. I am a journalist/director of small films.

How can you get diagnosed/what are the warning signs/symptoms?

My condolences for your loss, man. Thank you for doing this

The warning sides are often non-existent, which is what makes the event so tragic. Generally death is the biggest symptom/warning sign. They sent me to get tested after he passed away and it turns out I have it.

Thanks so much for your kind words!

Guess lll just wait till I die to see if I have it then. Kidding of course. I’m 31 and recently my heart’s been doing weird things. I’m chalking it up to the covid vaccine and work stress. Hopefully not this disorder.

Please see a cardiologist if you are concerned. You are too young to die(if this is it.)

Cheers!

When your brother had a heart attack, what do you mean happened medically?

I'm not sure I understand the question? His heart over pumped and then he had a heart attack.

My stepbrother and his daughter have both had heart transplants due to this, and are doing very well! We very nearly lost both of them, both were on VADs until they could find a donor and had issues with strokes. It was very up and down! Now it sounds like my step sister might have some signs.

Anyways, point is, have you discussed a transplant with your doctor?

I am so sorry. I am so glad they are still on this earth with you! Thank you to the donors, doctors and everyone involved who helped them. I wish your step sister well <3

I have not discussed transplants. I would imagine it's due to the fact that my condition is so stable and "good" that they won't want to risk such a severe surgery. I honestly would rather get a transplant if I am being completely honest with you. It would basically mean I can actually function normally.

I promise you you do not want a transplant.

Transplants fail. They are time limited. You are completely immunosuppressed and can have significant issues from the smallest infection.

Thank you. This made me feel better!

You mentioned exercise in a previous response. What kind of exercising can you do? Is there anything you are specifically warned to stay away from?

Walking, tennis(not running a lot), golf, field goal kicking(I love this; I can make a 65 yard field goal)

Basically swimming and running are possibly the worst sports I could do to myself. I can't think of anything else specifically, but anything which would get my heart rate up,

Have you had any discussion about ICD implantation or your risk factors? Really interested about how those sorts of conversations go.

Guidance on HCM is evolving as we speak!

I have one! I was mad at my parents when they told me I would be getting one, but I guess I'm glad I have it? I haven't had it "go off" on me ever, so I'm not sure exactly how impactful it is.

I believe HCM research is evolving as well, like you said. Hopefully one day we can find a cure!

Blimey, I guess due to your family history you were recommended to get one - it's quite a scary idea to have an ICD, so glad that it hasn't gone off on you or anything.

Drugs like Mavacamten, Valsartan seem to be emerging in trials - I really hope some new research benefits you :)

Beta blockers are helpful as well. I take some! Yep it was due to my family history for sure.

[deleted]

I would imagine a transplant would be an option if the condition worsened, which i hasn't. But like you said, it probably would be last resort!

Have you had the extended family tested? Is it prolific in your family, or just you and your brother?

This runs in my family. Thankfully it was found and one relative worked with their Dr to get the specific genetic marker found for us. (Gene mutation) Mom has it but I do not. Have 3 relatives who have had heart surgeries to reduce the size of the inner heart wall.

Sorry to hear of your brother.

My Dad and his sister have it, along with my Grandfather. They all are very stable and "healthy" with it, which is great. I'm so glad yours was found in your family. No loss is always amazing to hear with something like this.

Thank you for your kind words!

How long have you got?

Until tonight.

Congrats on graduating! I don’t have any ground breaking question, just this: Are you doing okay? Besides the physical aspects I mean.

Thanks! I am a computer scientist.

I'm doing good. I do have what I would assume is called "survivors guilt" sometimes... I'll be honest. It's an emotional thing knowing my brother isn't on this earth because of this. I don't sit around feeling depressed about it at all, I just wish it didn't happen. There are also moments where I do feel emotional, like on the anniversary of his death/birthday, which are unfortunately in the same exact month.

What tests did they use to diagnose you?

Echo, and EKG. So basically an ultrasound for the heart and then the EKG I understand less.

Are you a religious person?

I used to be. I'm not anymore because in my opinion it's all stupid.

This killed my first husband at age 35. He was born with pulmonary stenosis (youngest patient to have open-heart surgery at 2 days old). Things seemed fine, but he probably should have been seeing a cardiologist more often.

Suddenly, he had a heart attack and I couldn't save him. We had a kid under 5 and a baby.

His older sibling got checked out. The kids have to go in for periodic checkups with a cardiologist. First kid was born with pulmonary stenosis, but grew out of it. Second kid had to check with their cardiologist before getting ADD meds and we keep them away from caffeine.

And because of all this, the baby I'm carrying now has to have extra fetal echocardiograms even though it has a different father.

I'm sorry about the death of your brother, but glad you found out sooner than later.

What have your doctors advised about the COVID vaccine?

I am so sorry. are you okay now? This breaks my heart. Thank you for your nice words.

My doctors advised me to get the covid vaccine.

How large is the scar tissue? I have HCM. I had 22mm shaved off my septum five years ago in an open heart surgery. Good luck. Feel free to reach out if you have any questions or need anyone to talk to.

SUPER small!

And wow. I didn't know that was a thing! Thank you for the support <3

I'm glad you're okay!

Are you scared of dying?

I used to be more scared, but not as much anymore. There are times when I do get scared.

You mentioned below you don't want to have kids and risk passing this on to them. I have moderate health issues, though not as bad as yours, and it got me thinking.

How do you feel about the condition? Is it just an annoying restriction on physical activities, or do you sometimes fear for your safety?

I think of the condition as a curse and I have a deep deep hatred for it. I apologies, by the way for getting a bit dark there, but I waned to be honest 😂

It's an annoying restriction and I don't always have a deep rooted anger towards it in my day to day routine; considering it's been so long that I've been diagnosed, I am a bit more "whatever" about the restrictions, but deep down I am pissed as fuck.

I do fear for my safety sometimes, but it was more when I was younger and a bit less educated on the topic.

not trying to be an asshole, but how is that image proof?

I can give the mods more proof, but I don't really see how a social media account would provide any more proof. I have personal means of showing proof, but I would much rather not put it public. If this is really a problem, I can contact the moderators and give them some in private.

Do you have a question?

The most important question you had a pacemaker installed at 15… just recalling when I was 15. How does it affect masturbation or sex?

Pacemaker doesn't change anything in my life. The below questions I'm not going to answer due to privacy reasons.

Lmao, I was wondering how your “proof” got through.

Uh, what do you expect me to put? i've never done one of these. I've told others I will gladly provide proof in other forms, but I"m not going to put my ICD card on public display for the whole world to see?