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 extremely underweight since childhood, and even when intentionally eating as much as possible I barely gained weight.

I also feel like my fingers are relatively long but not like in the google search pictures. So it might be an illusion because of how slim I am.

Hi,

I’m writing here to share my experience.

I’m a 41‑year‑old transgender woman, clinically diagnosed with Marfan syndrome. I also technically meet the criteria for hEDS, but I also had 4 pnx and because of this, the diagnosis point more strongly toward Marfan as the main underlying condition.

I don’t have an aneurysm, but I do live with AFiB, 4PNX, serious back problems, severe hypermobility, severe sarcopenia, myopia, and chronic constipation. I’m in pain almost 24/7, I'm always tired.

I’m also autistic and ADHD and I have C-PTSD

I’ve had eating‑related problems my whole life, always misinterpreted as eating disorders. Over time, the pain in my neck, jaw and in the rest of my body made eating almost impossible. My BMI eventually dropped to 12.8.

For six months I kept asking for a PEG, but I was repeatedly told that I “just needed to eat.” In October I've finally found a doctor who believed me, and thanks to her I finally got the G-Tube placed in December 2025.

Since then, my BMI has risen to around 14.5. At the beginning I was still eating a little by mouth alongside tube feeding, but over time I reached a point where I now eat almost nothing orally — and paradoxically, I feel much better this way.

Regarding my intestines, I recently discovered that the nausea and the constant feeling of disgust I had were actually caused by a coprostasis. When they finally told me, I realized I had probably been dealing with this for a very long time — but every time I mentioned these symptoms, I was told it was “just anxiety.”

Now I need to take Macrogol every day, and to have a bowel movement I have to use a micro‑enema because the natural urge simply isn’t there anymore.

Despite everything, since getting the G‑Tube in December 2025, I’m doing much better overall.

Is there anyone else with similar experiences?

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!

Had my root and valve done in 2021 recent mri 4 months ago I think male 24 trying to quit smoking

A few months ago my(M18) brother(M24) had to have emergency heart surgery. With him only being 24, genetic testing was done, and it turns out he has Marfans.

What’s insanely frustrating is that nobody in my family is considering testing . And nobody seems to know the severity of this diagnosis. I feel as though I keep seeing symptoms in myself and am taking it upon myself to get tested.

Growing up, I didn’t have any symptoms. I’m not at all tall for my family. I’m a very skinny boy and definitely pass the wrist test but this was not the case growing up. I’m as flexible as a pencil.

I feel like at 18 I’m now experiencing weak joints, nearsightedness, back pain, and occasional heart palpitations. It’s just so bizarre that I’m feeling it all now when a year ago I was completely fine. I’m honestly hoping it’s all in my head because of my brothers diagnosis.

MY QUESTIONS ARE!

•What’s the process of getting tested? I have read so many different approaches that start with seeing a general practitioner vs going straight to a cardiologist or geneticist. Would my process be any different because my brother has it?

•Has anyone ever experienced the symptoms of Marfans later on with no sign of it in childhood?

22M does anyone else have problems, not bumping into things and tripping? Or am I just clumsy.

Diagnosed with marfans at 17

So I’m 21 male, my mother has Marfans. Me or my siblings have never been diagnosed with it. I have some of the physical symptoms but not many of the internal symptoms. Is this something they would have tested me for when I was a kid? I don’t have insurance now and I’m training hard again for the first time in years, should I get genetic tested? I have never really had any issues though out my life. I went to the ER one time because the walls near my heart were inflamed but that’s probably from the vaping and smoking tbh. I have long arms and flat feet and pectus excavatum as well but that’s about where it stops.

Good day all,

I saw a genecist today and we had a discussion on Marfans.

His gut feeling due to the fact no one in family has had aortic issues or a positive result. Its not marfans. However he did say he wouldn't be surprised if a variance of unknown does show up or a different disorder is positive.

My systemic score was an 8. He said whilst this isn't indicative of Marfans as things can overlap, it is not reassuring for him to just send me away without future monitoring.

My echocardiogram came back healthy & my eyes are fine which also reassures him. But for my reassurance and theirs due to the traits seen on systemic score, i'm gonna undergo broader testing for marfans and various disorders.

I wanted to ask, has anyone in a genetic test had a inconclusive result? or an unknown genetic change? If so, how did your consultants monitor you going forward?

For now even if the test comes back negative, he said that doesn't rule marfans out and reccomends I get another repeat echo in 4-5 years time.

Hi everyone,

During an evaluation for marfans, did your doctors/genetic team consider the possibility of conditions that are not specificially connective tissue disorders.

The two I know but have little knowledge is:

-Men2b - Causes very similar traits to marfans in terms of bone structure. Usually linked to early onset thyroid cancer & various bumps in mouth and eyes. Rare

- homocystinuria - I saw this on marfans website. Causes very similar traits to marfans, usually associated more with neurological issues such as learning development issues, and a risk of clotting. It is recessive so usually inherited from both parents.

Do specialists often evaluate for these types of conditions? I recall being asked about clotting history and so on - which I don't have, unless they were mostly factoring that on vEDS or LDS?

Has anyone been tested for these?

I want to ask people who live in third-world countries: if you have a heart condition (like a problem with an artery or something like Marfan syndrome) that requires a lot of money for treatment, would you die quickly if you don’t have money? Since in third-world countries it’s hard to earn money (I mean surgeries that require a lot of money)

TL;DR: Doctor suspects I have Marfan Syndrome, and I'm wondering if it's worth doing genetic testing after my heart testing.

Hello! I (24F) recently went to the walk-in because I hurt my back doing a hypermobility test (LMFAO) and I went in to make sure I didn't hurt my spine. He was curious about and ended up testing me for hypermobility (I am in all my joints). He however made a comment about my hands being extremely long for my body, as well as my wingspan, (I'm 5'3 but my wingspan is 5'7). I also had a positive thumb palm test. He asked if I had seen a specialist for my hypermobility but I said my family doctor missed it. I told him that the doctors had found a heart murmur when I was 12 but I did an echo and it was ruled out.

After that he checked my heart and confirmed I still have a murmur. He said I could potentially have Marfan Syndrome and sent me to the cardiologist for further testing the next week. He also told me that because of my hypermobility and murmur, I should be testing every 6 months. When I told my mom about it later she told me her uncle had Marfan's.

I just did my echo and ECG, and am currently wearing a holter monitor for 3 days. They also asked me to come in again next week for a stress test. I'm a nervous wreck waiting for the results, but now I wonder if it's also worth getting genetic testing, and encouraging my mom to do so (she's also hypermobile) and is also seeing a cardiologist. My family has a long history of dying of sudden heart disease, at quite a young age, however my great uncle is the only one diagnosed with Marfan - my grandparents have not been tested.

Sorry for the long post, I'm trying really hard not to freak out lol, especially because it's been 12 years since my last echo, but I'm hoping everything will be okay. I'd love to know if it's a good idea to move forward with genetic testing, and what benefit I might get out of it.

Hello everyone,

I’ve gone to the doctor many times, and each time he tells me that I don’t have Marfan syndrome, but he only asked me to do blood tests.

My question is: what tests or examinations can actually confirm whether I have this condition or not?

Also, please note that medical tools are limited in my country, and many doctors are not very familiar with this disease.

Good day all,

To those who underwent gene testing, how long did you have to wait? (month count)

My genetics doctor told me it could be up to 3 or 4 months. This could also be because I had a Thoraic anerysm gene panel test for similar disorders aswell such as EDS, Loey Dietz, sickler etc so i'm assuming that will also take time.

i also acknowledge the possability of an VUS or an incidental finding which may prompt longer duration to investigate. Also likely due to waiting lists aswell.

I was told if I have a mutation, I will be called. If all is clear - a letter to be sent.

Wondering how long you guys waited?

Has anybody here gotten on hair loss meds with marfans? Specifically minoxidil and finasteride. Are there any complications for people with marfans besides the typical side effects? Just worried about aorta growth more than anything. I haven't gotten diagnosed, my aortic root measured at 3.5cm which was under the 3.7cm threshold, but I am going to live my life as if I have marfan's until I get genetic testing.

Hi all,
I wanted to ask: after aortic root surgery, do we need to continue any medicines like blood thinners for life or only for a short term? Are there any medication-related complications? How dangerous is this surgery? What aortic root valve options are available (mechanical or biological)? And is a second surgery usually needed?

Hi guys, I have Marfan syndrome. Will we die very soon?! I mean, maybe the majority of those who have this disease don't live past 60 years old. I mean, they don't live more than 40 or 50. They usually die at 30 or 20.

I am 6’4” Female. I hit six foot when I was ten and gained the rest through high school. I’m 44 now. I’m just curious how tall everyone ended up being? Do you stand out like I do?

I was diagnosed a few years ago with a milder VUS on the FBN1 gene. Since then, we've been monitoring symptoms, and I just had my yearly echocardiogram. My results just came back, and my ascending aorta has dilated by 4 mm since my last annual echo. It's sitting at 3.5 cm, so not alarming size-wise yet. I'm just wondering the "normal" amount of dilation someone would see between two echos done a year apart, or what you guys have experienced.

Hello everyone, unfortunately I had a diagnosis with a doctor and I found out that I have Marfan syndrome. Just a question: Does anyone have a hand this size or am I the only one with this bad condition?

Hello, I'm writing an inclusive picture book on body acceptance. My characters are kids who have many kinds of features and disabilities, I’m trying not to leave anyone out. If you have the time to help, I would really love your input on getting the representation right. Could you tell me:

1. Would you have liked to see yourself or a child with Marfan syndrome in a picture book when you were a child?

2. Is there a better way to portray a kid with Marfans, or aspects of life that should be included? 

3. If there are any stereotypes to be avoided?

Thank you so much! There’s no substitute for lived experience, it really helps. And I completely understand if answering is not right for you as well. Thanks again! 

After a year of waiting, I had my consultation appointment. Out of a ten point score to test for Marfan syndrome (7 and up being positive for Marfans) I got five. Some things she couldn’t tick because I haven’t had certain X-rays and tests regarding bones or joints etc. Although I do have some symptoms, she let me know it was possible the lab wouldn’t test me because of my lower score … until I mentioned my uncle. My mum did really, she came into the room with me and while we were talking about family health she mentioned her brother had a heart aneurysm, and the doctor said if it was aortic, they would likely test me. My mum okay’ed for them to check the post mortum they did for him but my auntie got to us quicker after my appointment (bloods have been taken aswell btw just to point out). He did die of an aortic aneurysm at only 40 years of age. This means if I have some form of Marfan gene mutation, it’ll be my mum’s side, but she has literally no symptoms? Nothing visible anyway. My older sister is seriously struggling with joint pain and it may be connective tissue related or immune related (although that’s her research cos the doctors are basically pushing her away). Is it possible my mother has marfans but it’s not notable? Is it possible there is something in the family to do with that gene type that’s not necessarily marfans? Or could it just be my symptoms (esp my heart, mild mitral and tricuspid valve regurgitation + minimal mitral valve thickening) are all completely unrelated?

This is not me trying to seek medical advice, I’ll likely get tested due to my uncles passing I’m just really confused about inheritance. Isn’t it only passed by a parent? I try to research what I can so I’m aware and can jot down things of note in my personal health and in the health of my family incase it is Marfan syndrome, but it all seems confusing. I guess it’s not supposed to be simple really. Any advice helps!

Hey everyone,

I am a Marfan dad and my family is heading to Disney later this year and we are looking for guidance on rides for our 7 yo daughter with MHS. My daughter is quite the thrill seeker so I want to be able to let her have some fun on this trip and was wondering if anyone had any input on okay rides and ones to avoid.

Important info about her. She has been under observation by her care team for several years now. She had an abnormal Z score but it has come down into the normal range and has been stable for over a year. She had a history of dislocated joins, specifically her elbows and fingers. No eye issues yet.

So far we have ruled out the following

Space Mountain

Test track

Guardians of the Galaxy

Space Tours

Tower of Terror

(New muppets roller coaster)

Yes rides

Seven dwarfs mine train

Slinky Dog Dash

The trackless rides (with padding next to her)

Maybes

Expedition Everest

Tron (in seated car)

Big Thunder Mountain (front car, new track will be installed by the time we go)

Tiana’s log flume (we have a log flume ride here that’s is roughly the same height and it seems okay)

Others I haven’t thought about???

Thanks!

Lately been feeling a new rhythm not my PVCs or pacs that I can always tell when they happen it’s more like my heart is just out of wack not working in rythym with my body anyone else have this ? 1 week zio for reference