r/marfans

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

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

So I'm 26F and I've never had a boyfriend. My teenage years were rough : I reached my definitive height (6'1) at 14, I was scrawny and unattractive. During my early 20s, I learned how to take care of myself and I had a huge glow up. I gained some weight and curves thanks to the gym so I'm not bony (but I'm still very thin), I dyed my hair blonde, I learned to dress cute and to do my makeup well. Women tell me I'm pretty and beautiful, but still, no attention from men...

Did you manage to find someone who is attracted to you despite your 'flaws' and accepted that you were a Marfan? I'm so afraid of being abandoned. I don't want children because of this, and I'm not sure I'll ever find someone who loves me... but I'd at least like to have some short-term relationships to experience what it's like and catch up, to feel like other girls. I grew up feeling 'abnormal,' my parents were stressed because of my disease, and I've been bullied to the point that I don't feel worthy of love. In a world where short, busty women are preferred (hello Sydney Sweeney), it's difficult to feel desirable.

EDIT : It always amazes me to see men think they are so indispensable by recounting their own experience or giving their opinion on what I have experienced, when I specifically asked for testimonies from women only... thank you to those who responded kindly though, it makes me very happy.

Please guys answer me

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, 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!

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?

Probably a stupid question, but does anyone else here have pectus excavatum (sunken chest) or carinatum (protruding sternum)

Hello, has anyone had any luck with finding a US surgeon who is willing to provide a letter of medical necessity for PEARS? I received a reference for a Dr Cameron at Hopkins but he's no longer seeing patients and contacting him is impossible.

Myself and my two sons (10 and 8) have Marfans and a new one my oldest son has been experiencing is an occasional "knee pop" with pain. I can only describe it as a super sharp intense pain like a very bad cramp but located in the knee. From the outside, it looks as if the LCL ligament pops around the side of the knee when rotated a certain way (think sitting criss cross applesauce style). He will stay in heavy pain until he can get the LCL to pop back (usually by slowly straightening the leg though sometimes there is some resistance which makes me nervous until it pops back).

When I was a kid with Marfans, I can't say I experienced this but I know we all have looser than general connective tissue, so figured I'd ask if anyone has this happen related to Marfans. He's had no injuries to the area and it doesn't happen all the time but it's happened a couple of times now that I don't think its random so figured I'd ask.

I had a really bad day. I was bullied and heard some very hurtful words like ‘I want to wash my eyes with acid because of his face’ or ‘I feel like vomiting every time I see him.’ My mental state is very bad. I think my life is hopeless. Maybe you won’t understand me, but I’m in a very bad condition and I don’t know who to talk to. I want to ask a question: is there a way to increase bone thickness?! Please, any method, any hope, even if it is small.”

Hey, I've had unexplained back pain for almost my whole life. My mom says I started complaining around age four. I don't have scoliosis, and that's about all any doctor ever checked for because they quite plainly didn't believe I was actually hurting as badly as I do.

I need to get more scans done but it's really just so costly and I always just want to cry at the doctor when I complain of pain because I have been dismissed and condescended to for so long. And it seems every time I make an appointment to talk about my pain(when it gets bad for a while), by the time I get seen, the pain isn't so bad anymore. And then they ask me to rate my pain at that time and I can either lie or tell the truth and they always look at me funny either way.

I know the two most common causes of marfan-related back pain are scoliosis and dural ectasia. Does anyone here have experience with dural ectasia? If so, does it "flare up" or is it constant? I always have pain with too much physical exertion, and it worsens with stress, but sometimes the pain is neat-constant for a few weeks and then it gets better again. Since friday most of the time even just standing from bed or from sitting I can't stand straight up, I have to hobble around and slowly lift up and it hurts like a bitch. Please share your experiences!

I submitted a sample using Invitae to test for the FBN1 gene and when I check the Invitae portal, it has been stuck on the Analysis and Interpretation stage for a few days now. Just curious if anyone used Invitae and if you remember how long it took to receive your results after this stage? Thanks!

I (18m) got diagnosed at 3 years old, so my whole childhood i had my family saying things like “You’re gonna be so tall one day!” and as a result being tall kind of became apart of my identity before it even happened. Despite all the negatives that having marfans gave me, at least one day i’ll be super tall, i thought to myself…

I stopped growing at 5’2. I have the “Tall Disease” while being comedically short 😭😭😭 God loves playing jokes on me. Lol

I've always struggled with having a very large chest, and not being able to find bras that don't kill my already weak back, but also don't let my breasts sag too much. Has anyone else with this problem found that magical bra that helps? It's a long-shot, but I'm desperate.

(25M, 6'1, 160 lbs)

So at 19 I was checked for Marfan's by someone who specializes in it. I got an echo (completely normal), he measured me (said measurements were borderline), and told me I "probably do not have it". I guess he didn't think it was necessary to get genetic testing with my case? Looking back I am not sure why.

I have scoliosis (zero back pain or discomfort), hypermobility, moderate pectus excavatum, and stretch marks, so I seem like a good candidate. I have never had issues with my joints (dislocations, subluxations, pain, etc) though and they have always felt very stable.

Side note, it seems in my case the only way to get an actual diagnosis would be to have aortic root dilation? I have no family history at all, like no history of early death or aneurysms. My Systemic Score is 7, so under the criteria I currently would need an abnormal echo. That seems a bit dangerous for those who get checked at younger ages like I was (teenagers)? They can have a completely normal echo, be told they were not diagnosed with Marfan's, and then never do any followup echoes thinking they are in the clear. Not sure if I am missing something here.

My completely clear echo at 19 makes me a bit less anxious overall, but idk how quickly these things become an issue at my age. Every time I have any sort of slight pain in that area I get super anxious, which does not help my situation at all. My anxiety in general occasionally causes some chest pains, so it is sorta a circular thing where I get one, get super anxious, and that causes more. This is why I have been trying to find a way to get a scan ASAP (for peace of mind). Even though in my case idk how at risk I really am right now.

I’m worried though because I will lose insurance in a couple weeks (dropped off parent's at 26 where I live), am currently planning a move, and might not be able to get another echo for about 6-8 months. I sadly do not have any sort of money at all to be dropping on tests and doctors visits.

How much are you all paying for these types of routine scans? Does anyone know of ways to get them cheaper? This seemed like the place to ask something like this (for obvious reasons lol). I am in the US by the way.

Also, if I did find insurance, do any really pay for routine elective scans because a person thinks they *may* have Marfan's? I mean, I think I am unable to get a diagnosis until I get an abnormal scan, so it looks like I may need to pay out of pocket until I do get one (if ever). Would greatly appreciate any anecdotes when it comes to how insurance handles this in the US. I did not mean for this post to get so long, so thank you to anyone who made it to this point lol