r/marfans

I wanted to share an update to my previous post, found here: https://www.reddit.com/r/marfans/s/rU2e7NnVuC

37F - tl;dr is that family on my dad's side recently discovered they have Marfans, after confirmed genetic testing following several aortic dissection incidents (including several deaths). It was suspected my dad also had it, so they reached out to me to let me know, and encouraged me to get tested.

I posted here because I wasn't sure if it was likely or even possible, since I don't have many of the Marfans physical features. I received many comments from this wonderful, kind community also strongly encouraging me to get tested!

Well, it turns out - I do have it. My doctor referred me to both a cardiologist for an echo & a geneticist. My echo, thankfully, looked good and my aorta are very healthy/a normal size. But the genetic test results just came back today, and it was confirmed that I have the same pathogenic FBN1 variant as my other family members.

I do feel like this explains so much, including possibly my chronic migraines. I've had several months to sit with the possibility of having Marfans, and intuitively, just felt/believed that I probably did have it. Receiving the results today, I didn't feel surprised, scared, or sad, like I initially thought I would. I just feel grateful to *know.* Knowledge is power, and knowing I have it will allow me to monitor my heart and health over the years and take preventive action, as needed.

When delivering the results to me, my geneticist told me that Marfans has a beautiful, supportive, and active international community. That was really encouraging to hear; I feel like I've experienced a bit of that already through this subreddit. Thank you so much to everyone who commented on my previous post and motivated me to pursue testing! You've genuinely made a difference in my life. ❤️

Anyhow, I thought sharing this update might possibly encourage others who are in a similar boat to pursue testing too. Thank you, and please take care of yourselves. 💕

HELLO!!!!

i was evaluated for and diagnosed with hEDS. i am trying to donate my kidney to my mother, who will be needing a kidney in the next year. the donation coordinators requested my specialist order genetic testing to rule out vEDS. i did not test positive for vEDS.

a VUS for the FBN1 gene was found instead.

i am anxiously waiting for my specialist to review the results that came back. i was so positive that i had hEDS, i have been sure of this for the past several years. and yet... the testing may indicate something else entirely?

i am very hypermobile, have never seen a cardiologist, and just never expected this due to an average stature/build and no other obvious marfanoid traits. i have NOT been diagnosed with marfan syndrome, but i am terrified that i will be.

the donation team told me i will likely be disqualified as a donor if diagnosis is confirmed. my mom is depending on me, i'm just mortified. i haven't even told her there's a risk i can't.

is VUS commonly seen in people who get diagnosed? or does it all depend??? i do have a referral to cardiology that was written after i was diagnosed with hEDS but i haven't been able to make contact with the office i need to see.

i am mostly seeking any kind of reassurance, if possible ;0;

I (16m) have been diagnosed for almost 4 years now and I have had a lot of stuff happen. Within the first month they did heart imaging and my aorta was prolapsed. This lead to me having a aorta replacement but when they went in there they found out that one of my valves was almost completely gone so they fixed it. About a year and a half later half way through my sophomore year of high-school my lung collapsed it was terrifying I was struggling to breath I couldn't move without pain. This event happened on a Tuesday I wasnt brought to the hospital till the Friday after my lung was almost 80% collapsed i wasnt going to make it the night. I was rushed to the hospital a stayed there for 15 days I had 4 different chest tubes 1 blood transfusion and about 300 bruises when I left. This all leads upto this moment im so scared that im gonna die at any moment my legs always give out (I have a caine to walk) and I cant even stand up straight. My question to end this vent off is does the fear of mortality every go away?

Can anyone point me to some good articles/blog posts or even your own anecdotal experiences on common digestive issues and better digestive management when it comes to Marfan syndrome? I'll be bringing it up to my doctor next visit, but I've got some major reading/processing issues and would really appreciate some help with getting to some useful info since search engines suck these days.

I've been blaming myself for increased issues with GI stuff (acid reflux even when I eat a small, healthy meal, stomach pain, food going right through me, feeling inflammation in the gut, increased gas) and the fact that I'm in my later 30s now, but I'm realizing this subject of how marfans effects digestion and nutrient absorbtion is something I'm severely lacking knowledge on. It's like my brain is already so full of knowledge on other crazy health issues from marfans and my other rare life threatening disorder shit that this topic has just totally not been on my radar all this time.

I would appreciate personal stories of things that have helped your digestion or what common issues I may not be thinking about, but I'm very aware that everyone is different and I will be pursuing seeing a specialist in a couple months. Thank you!

So I'm f,19 and I suddenly developed POTS out of nowhere in 2022. I'm very tall (174 cm), thin, have long legs and long fingers and bad eyes (astigmatism).

Two doctors have already told me that I probably DON'T have Marfans just based on looking at me but I'm not sure. They could be wrong, couldn't they?

And since I have bad bad health OCD and my biggest current worry is an aortic aneurysm and I've heard that people with Marfans often have that, I'm even more scared. I'm extremely scared of dying anyways, especially because I'm still so young. And I also read that if an aortic aneurysm ruptures, 8 out of 10 people die before they even reach the hospital... so idk... I'm IN PANIC

Sorry for bothering...

I have an ascending aorta aneurysm of 4.7cm, pectus excavatum and multiple scoliosis. I went to the A&E 3 times in the last 2 years for chest and back pain, but each time the diagnosis came back with "musculoskeletal", doctors were sure that the pain wasn't heart related.

Currently I am on a 2 year recurring MRI monitoring followup with my cardiologist, so far my aorta aneurysm size has stayed consistent for the past 4 years, but the chest and back pain has increased in frequency, often when my blood pressure rises due to stress or physical exertion.

I kept reading on the symptoms of aorta dissection and it's similar to what I was feeling, some people also said that they have gotten dissection several times but I have always thought that dissection would be life threatening? So my question is that does the aorta heal after a dissection or is surgery required immediately?

I'm a woman with marfans in my 30s. I had heart surgery over 15 years ago to replace my aortic root with a mechanical one. I've been fairly healthy since, but I want to do lightweight arm exercises regularly.

I have an adjustable dumbell set with weights ranging from 5 to 15 lbs each, and weights in between. I've been using them at 7 lbs, high reps. Is 15 lbs pushing too far, even for low reps (like 3, only one arm at a time)?

Since a very young age I always thought I looked different to normal people but as a kid it’s obviously much less important how you look so I never cared about it that much, I just didnt like myself in pictures.

As Im getting older though all my friends have been dating constantly and getting into serious relationships while Ive never experienced romance in any way. Ive had some girls that I felt a lot of chemistry with but they never wanted to get to know me in that way. I know its because of my looks because ive been bullied for it my entire life and even though there is more to life than love, sometimes I just want someone to do things with you know? And obviously as you get older social life is going into the direction of your own family and less of seeing friends. That loneliness has been eating away at me a lot. Also not having that support of a partner while dealing with health problems is kinda tough.

Ive kinda tried everything to look better. Lifting weights, good diet, best hair style possible, dressing well to kinda hide my body type, but I still look like a 3/10 at best. The face is just too underdeveloped.

Ive kinda made peace that this is just going to be a solo ride but it still hurts sometimes as I think my soul is very romantic. This disease has taken so much from me man :/

Connective tissue disorder

Has anyone with cataracts have had a connective tissue disorder???

What kind of precautions or risks did you have??

Have you had to have a lens exchanged?

it’s my first time writing in this space, but i’ve been eager to get a few surgeries and fillers and whatnot and i’ve felt this way since i was assaulted when i was a teenager, i feel as though now i have to change my looks so that person who did what they did to me does not find me to be beautiful like they constantly used to call me as i was growing up with them, and i’m very set on this. this person who abused me was always very fond of my natural features, so i feel the only way for me to achieve real inner peace and to successfully move on from the trauma is if i look a bit different than i used to, nothing really major, other than a boob job, but honestly i do get scared that i might get into a really bad complication on the surgery table and though i’m only researching right now i would love to know what steps to take towards plastic surgery

Wondering if I hold a record for most ct scans at roughly 200 lol I’m 24

Hi, everyone! I thought for SURE I had marfans, or at least something similar. My provider called me today to let me know my genetic testing all came back negative. It was the 92-gene panel for connective tissue disorders through Invitae. I guess I’m looking for some insight, I’ve had such random things happen to me and it feels like it’s too much to be coincidental.

I have-
-Moderate scoliosis, needed bracing in middle school
-Retinal detachments with severe nearsightedness
-Weak pelvic floor for my whole life
-Bilateral vertebral artery dissections (once)
-Joint instability but no pain
-Short torso, long fingers
-Cervical neck instability

However, I had an echo last year and my aortic root is normal. I’m 5’5” so not super tall. I’m not hyper mobile by any means. ANA was negative.

The genetic counselor was so nice and did say they’re always discovering new genes so he would reach back out in 2-3 years to see if we want to retest depending on if anything new has been found.

Just wanted to see if anyone has any insight or ideas. I’ll meet with my primary soon, too. Thanks in advance!

I have a question for everyone who's had a open heart surgery. I'm 18 and had my heart surgery back in November of last year. Afterwards I noticed that I can't/don't sneeze like I did before. Before I could hold it in and be pretty silent with it. But now I kinda cough and sneeze. Like a stereotypical "dad" sneeze. Just wondering if anyone else's sneeze change to compensate with the pain from healing. It's not like I have pain anymore but more times then not I'll sneeze and gather the attention of the entire room now.

Hello, this is my first time using Reddit and first time making a post on here. I've always been a skinny kid and had to live with the reality of being underweight, but recently I learned that there was possibility of me having Marfan's Syndrome, due to being very thin and also hypermobile. I was very afraid because of the possible heart complications, but also thought it made sense. Doctors recommended a gene test, and the results came negative. However, I still think there's a high chance of me actually having the disease, and either way I still worry a lot about it, because not only of the health stuff but also because of self confidence. I'm here to ask if I should do the test again, or if I should just stop worrying about it, or even if anybody has any tips on how to gain weight. I've spent countless hours searching on google for information, and this has bothering me a lot. Sorry for the long post, and thanks for reading.

Hi all,

For context I have marfans, I was diagnosed at 14 or 15 with genetic testing as it runs in the family. Fortunatley I am quite lucky, whilst its not ideal, I dont suffer from particular heart issues. It primarily affects my eyes and ligaments.

However, one of the main issues is stretch marks. Whilst they dont look great I can live with them. I am 28 very active 10-12hrs of sport a week and regularly get them around my stomach, inner thigh, inner upper arm. However, recently I have noticed them under thigh. All these places I have quite "thin" skin. So I am very prone to "chub rub" despite having a bmi of 22.5.

Has anyone found any good solution to both avoiding them and helping them not be so painful. At times they are deep and red and make it quite uncomfortable as it feels as if I have been rubbed raw!

I do use bio with varying degrees of success.

I’m 29f and I’ve never met anyone else who also has marfans. I’d love to be able to connect with people that understand what it’s like to have marfans and who have gone through similar health issues.

Is anyone else looking for marfans friends?