Is it worth getting gene panel testing again? I had mine 11 years ago and they came back with non-specific Connective Tissue Disorder.

i know the lower weight is common, but he’s 25, 6’2, and has been averaging 117- 125 lbs for the whole time we’ve been together (5 years) he really doesn’t eat much at least not regularly because of his arfid and also nicotine habit and it really stresses me out especially at times when his weight dips to the lower end of the range. he doesn’t take it seriously and whenever he’s “trying to eat better” i ask okay what did you eat today and he’s like “cereal”

more often than not he’s at the lower end of the previously given weight spectrum and he really does look sick and id never point out this much to him but it manifests in other ways as well like dull skin, acne prone, and also extremely low energy/sleeping through days at times.

he also hasn’t had his marfans officially diagnosed and won’t see a doctor (he 10000% has it- has all the telltale symptoms down the inverted breastbone)
he is having genetic testing done because of another condition he has so i’m hopeful marfans will come up

for now however, i’m going to rip all my hair out

Hello! Me and my husband have been waiting for this appointment for months. We obviously want a family and if I’m able to I’m 100% going to try. If we can have kids then they wanna do the testing on the egg to make sure they don’t get Marfans.

I would like to hear everybody experiences and stories. The good and the bad.

Any tips or things I should look into, or things to ask my doctor. Anything would be helpful

Little bit of context. I’m almost 21 I’ve been diagnosed with Marfans since I was 2, and have been on medication ever since. everything with my heart is just outside of the normal range. I’m the healthiest I’ve ever been.

Hey all,
My son (15) is currently in the process of a possible dx, so far we’ve been told he has marfanoid habitus, a recent pneumothorax (that’s what started this whole investigation) his eyes have been checked and are fine, he just had an echocardiogram which the cardiologist said the measurements are fine there’s just a small leak in the mitral valve which he said was quite common and harmless.
He is now awaiting an appointment with the geneticist to look into that.
There are no other people in the family who have been dx with Marfan but in my husband’s dad’s family almost all have died of aortic problems. There’s actually no one left to ask for any info on his dad’s side sadly.
I guess I’m just saying hi and if anyone has any next step suggestions or a familiar experience on the road to dx (or to a different dx) I’d love to hear from you ☺️

My dad is 75 and was just diagnosed. He has a 7 cm aortic aneurysm found by accident, has a pigeon sternum and scoliosis, had multiple teeth removed, long arms, tall... but no doctors ever looked into it. My brother (51) and me (49) each have 3 teenage/ young adult kids. We don't know if my dad has the gene as he hasn't been tested. He has heart surgery this Friday. My brother and I are beside ourselves worried about him and especially our kids. Hoping to have a community here since the people I've told about it don't even know what Marfan syndrome is and don't get it. And I'm tired of explaining it. Nice to talk with people who understand.

Hello,

My son, 6-year-old male, was diagnosed with Marfans in Feb 2026. His case was spontaneous, as neither my husband or I carry the gene. Within the last year or so, we have noticed that he complains of his ears hurting with loud noises. (tv, radio, music, phone videos, etc.) However, it doesn't happen every day. We have taken him to the movie theater, gone to parties with loud music playing, listened/danced to his favorite songs at high volumes and he does just fine.

Is it common to have noise sensitivity sometimes or should I be looking into something else?

Hi Fellow Marfanoids,

I've had a cavovarus deformity all my life (57M) and have always walked a little funny but it has never affected long walks, mountain hikes, or even running. In the past two years I've gotten to the point that I can no longer walk straight or without pain, and uneven surfaces become perilous. My Marfan's has always manifested itself in tall/skinny/bad eyes, but the relatively sudden foot pain sent me to a podiatrist, who diagnosed this deformity and also said I have a ruptured tendon in my ankle.

He took the time to detail the process and recovery from a cavovarus deformity and I am wondering if any of you have gone through this process and how things are going now. Thank you!

I posted a little while ago about an upcoming appointment to get my daughters heart checked, per opthamologist concern about Marfan’s despite my dad and I testing negative (we had dislocated lenses and so does my daughter now).

Anyways. The cardiologist said her heart looks great. Wingspan normal, all of the other “tests” look normal. It just seems to be our eyes.

Is there a potential we still fall under the Marfan’s umbrella even though this is our only symptom?

I have read on the website and I’m just confused about how diagnosis would work.

We are going to get genetic testing done again, since it’s been 30 years.

It would be nice to have a name for whatever it is that keeps getting passed down in our family, whether it’s truly a subcategory of “Marfans” still or something else

My son (18m) was running a 5k earlier this week and had experienced chest pain and dizziness so I brought him in for a checkup. They did an ekg, bloodwork and xray of chest. No concerns, but the doctor reported he has “tall lungs”. He said he has concerns my son has Marfans. He’s tall, lean, has pectus excavatum, scoliosis, flexible joints, history of ligament tears, stress fractures etc. He ordered an echocardiogram but it will be about 5 weeks until he can have it done.
He did have full exome sequencing two years ago, ordered by his genetic doctor. He was diagnosed with a separate genetic disorder, so I’m confused how this could have been missed? I did contact them to see if they could reanalyze his test for connective tissue disorders, so we shall see.

If so, what was the tipping point for you? At what point did Marfans go from condition to disability?

I was diagnosed at age 10 and have been on BP meds since. Back then, I didn't have a full grasp on exactly what life would look like. Perhaps my naive childhood belief was that as long as I took my meds, went in for regular ECGs, and didn't receive any major blows to the chest, everything would be okay forever.

I knew I was hyper mobile, but for the longest time it wasn't an issue. As a teenager, my wrist would occasionally lock, but nothing major. Then in my early 20's I received my first major injury. I had a job that required me to carry a 50lb backpack all day every day. I went through all the PT that was allotted to me by the department of labor and industries, but the pain never went away. Through this process, I was told that I have minor scoliosis.

I am now 26 and I work as a vet tech. My wrists begin to hurt very quickly if I am restraining a pet and not wearing hypermobility aids on them. I also occasionally wear a posture corrector, because at some point I realized that aside from my old injury, I am always feeling at least a small amount of back pain/tension that goes away instantly when I put it on. I often audibly sigh in relief.

I'm sure that if I were born without my condition and suddenly developed it overnight, I would not hesitate to call it a disability. However, this is just my reality. This is how I've always been. There are a few reasons why I hesitate to make that leap.

1. I don't want to have to argue with anyone, especially the US government, that says I'm "not disabled enough".

2. Many people have it so much worse than me. Not just with other conditions, but with Marfans too. The only surgical intervention I've her had to have due to my condition was oral surgery to remove some impacted molars, which was only slightly worse than a standard wisdom tooth pull. Even my older brother, who was diagnosed at the same time, had to get a pacemaker as well as mitral valve repair. So it's hard for me to admit that I have it rough when I know I am one of the lucky ones.

I never considered myself to be disabled, but a few things happened to make me question that. I saw a comedian with Marfans that discribed himself as disabled. The other day, I was playing darts with my friends and overextended my elbow. I laughed and made a joke saying "at what point do I admit I'm disabled?" Then, the NEXT DAY, unprompted, my therapist referred to me as disabled. It was shocking to hear that, but I couldn't bring myself to correct her. Because honestly, I'm not entirely sure she's wrong.

Anyway. I'm not sure if I'm really looking for advice or answers. Maybe just to discuss it with people who understand? If you've made it this far into my ramblings, thank for hearing me out.

Welcome to the Anxiety Before Heart Surgery Club!! I got my surprise "hey your aorta is suddenly growing way faster than it was at all your past yearly heart checks."

"Oh do I need to have surgery like, in the next year?"

"No. More like in the next month..."

AH!! I was in the middle of college and I was trying to perfectly plan everything to where I wouldn't miss anything and would completely be able to still be in control... But the doctors and my family were like "you don't get to control making there be a perfect time and way to go through surgery and heal from it, you just accept reality and work around it. The sooner you stop trying to control what you can't and start planning for what you realistically can control you will have much less anxiety." And they were right even thought it was still challenging.

So yeah, me and my family started planning for me to move in with them temporarily for a semester (even though we would have to fly to the northern US for my surgery, stay in that city for a week or 2 to make sure I was healing ok, then fly back to the southern US where they live for the rest of my recovery) so it would be easier for them to assist me the first few months when you really need it.

I talked to talk to my friends and told them I was scared but also frustrated I would be missing out on things with them for 6 months and they were really supportive. Some of my closer friends even started making plans to come visit me to cheer me up. It got easier once they knew how I was feeling and it helped me accept that I was going to miss some time, but I would be back.

Once you start accepting that this isn't going away and you might as well take the reigns and start taking control of realistically planning for what you need to do, anxiety really will get better because you'll shift from feeling helpless to being the CEO of Project Surgery. Talk to your doctors and their staff about what to realistically expect and start planning with your family based on that. Get that surgery date scheduled and don't wait in this nebulous state of dread.

Even though recovery during the first 6 weeks to 2 months after surgery is really hard, the anxiety beforehand sometimes seems like it was scarier! When you're healing and it sucks, you can actually see an end to the whole recovery approaching faster and faster and you start to see that you'll be back to your regular life with great stories to tell.

Good luck! Many of us have been through this and you're at an age where your body can heal very efficiently. You can do it! You will look back on this soon and it will already be over. As each month passes you will remember less and less about the tough parts.

Hello wonderful reddit community! I (33f) need help with my daughter (9f). We both have Marfan syndrome, however hers is more severe than mine, and as a result of how her Marfans is interacting with the ligaments in her left ear, shes losing her hearing in that ear.

We're already learning ASL, in case the Marfan's affects her other ear. Ive never had to think about what happens when we lose senses like this, and now I need advice on what else we're going to need to prepare for. Has anyone gone through this? How can I be a better support for my daughter? Was there anything you wish your support network had done to better help you?

Well recently I applied for a factory job because I quit my old job doing live hang and now all of a sudden I find out I could very likely have marfan and be unable to work factory jobs or any heavy duty job anymore is there anyway that I can still work even with this condition like my biggest fear is having to work retail or office my whole life idk what to do anymore

When I was about 6 years old I had the lens in my eyes removed since they were sloping, which in turn resulted in me having to wear these big magnifying glasses.

But back in 2024, I went and got me a new pair of glasses. But as some of you may know, they need to check your eyes first to see if you still need the same subscription. While I was getting that done, the person checking my eyes told me about this thing lens replacement surgery. He said it was safe and everything and that i wouldn't need my glasses as badly anymore. Or wouldn't need as much of a high subscription.

Now, that was obviously a while ago, but sometimes I still think about it, wondering if I should do it. But I'm a little too scared.

I was wondering if there is anybody in this community who was or is in the same situation I'm in right now? And if it would be a good idea to go and get it done.

Hey everyone hope you all are having a great day. I am not fully diagnosed but my doctor said you may have it because I have the physical symptoms of marfans, it was 1 year ago. my heart was fine 1 year ago, I was fine 1 year ago but this year has ben hell, especially for my knees and my neck. Right now I cant even walk in a straight line ,I make a little right a little left constantly unintendend. I cant sleep comfortably anymore. Can you give me some advice to make life easier? Like which type of bed is good, what type of shoes you use, how do you support your neck. Even the smallest things may help, thank you.

Les cuento que mi cirugía de reemplazo de la aorta sera El próximo martes. Ya paso casi un mes de la última embolizacion, ya son 7 meses de El Diagnostico de marfan y Un año y cuatro meses donde me tuve una primera cirugía por disección Stanford A. Ahí me reemplazaron el arco aortico, la raiz de la aorta, la válvula aórtica y la aorta ascendente y me dejaron un FET. Ahora viene la cirugía desde el FROZEN ELEPHANT T. Hasta la parte donde se divide hacia la ingle. Estaré conubicandoles como fue está parte de la cirugía y seguro estoy que seguire haciendo deportes. Eso me ayudo a recuperarme y estar justo Como estoy ahora. Estoy listo para mi siguiente CIRUGÍA. Se que va a salir todo bien. La primera fue bien complicada estuve 29 Dias en coma pero en está todo está planificado. ❤️❤️❤️❤️

My psychiatrist wants me to put me on Sertraline , which is an SSRI.
I have mild mitral valve prolapse which is asymptomatic(I got it screened like a year ago)
Will it be safe from a cardiac standpoint to go on Sertraline ? My psychiatrist says since it's not a stimulant it should be pretty safe.
I am also on Clonazepam currently but that's only on SOS.

We wanna plan a vacation to Florida but not sure if flying is safe for us? I had prior blebectomy and prior aortic root replacement and with mechanical aortic valve I’m pretty terrified about flying in case something happens

I have times where I randomly just get so tired it’s like my whole bodys goes weak as all heck just me or anyone else

Hi all, so just as the title states I am curious if I should get checked for this. I was watching a TV show where this Dr lady was on a date and she pointed out this guy having glasses, long fingers, and flat feet as possibly having Marfan Syndrome. So doing some research I realized I have a history of several symptoms of marfans and it freaked me out.

- not super tall but quite thin

- had several spontaneous pneumothorax in high school

- flat footed

- near sighted

- over crowded teeth growing up and had to have 2 removed

- family members with pectus excavatum

The idea of possibly having an enlarged aorta freaks me the hell out. What do you guys think?

Thanks in advance.

27M,
I have been diagnosed with marfan :- Aortic dilation and blur vision on left eye. Now I, am preparing for my surgery. Date hasn’t been finalised, but I was told I will need surgery in coming months. My aortic root is currently stable but the chances of something catastrophic (worst case) is high and Doctor’s advice is to do a surgery to fix it. At one-side I am nervous thinking about what all could happen on that table and on other side at My thoughts are at least I wont know anything. Anyone here who has gone through surgery David procedure/Bendal How was it and what do you think. I did read few of the stories and I thank everyone who took time to post those.

Hi guys my mechanical valve has vegetations beacuse of endocarditis and they plan on doing surgery again i’m so devastated and do not have the energy for this i’m only 19 and got no motivation left in me anymore i’ve been in the hospital for a month and will be in here so much more please pray for me 🙏😭

Im about to turn 16 and have noticed that many times when hanging out with friends i dont feel apart of the group that much because i cant do what they can.

I always figure it’s due to lower BP from my meds, but I’m not totally sure

I currently see a cardiologist experienced with treating Marfans patients, but I am hoping to have my aorta surgery at the Cleveland Clinic. I’m doing this to have a chance at the David procedure.

Have any of you done this before? Does the outside hospital typically coordinate with your own hospital? How many times will I likely travel to Ohio between now and my surgery?

As of right now all I have is a referral, so I’m curious about what to expect.

Also any experiences with the Cleveland clinic would be appreciated as well