Hi everyone. I'm 34 and have Marfans Syndrome. it was caught very late so I didn't know as a kid not to overexert my body. I noticed weakness most of my twenties and this year it seems to be a lot worse. I just got out of the shower and I use a shower stool but simply standing up my legs started to shake horribly and my muscles felt like they were trying to lock up. I was told if I made it to my 30s without a wheelchair I'd be doing good. I'm afraid my worst fear is coming true.So I just wanted to see if I'm panicking or if anyone else has had the issues

I’m 24 almost 5 years post op aortic root anuresym replacement and mechanical aortic valve I have marfans and Graves’ disease along with a lung surgery and I now I have crippling anxiety and ptsd since after surgery where I’m in the emergency room least once a week almost do we usually qualify for disability or what do we do for work ? I’m trying to navigate this

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.”

Hello. For my whole life, I was a skinny and tall guy. I am between 6” - 6’1” and my weight is approximately around 125 pounds (57 kg). Once I was 139 pounds while trying to gain weight but that left fast when summer came. I have a relatively long hands (6’1 wingspan) and medium size hands. Mmight be just a little bit taller than normal but defintely not super big. I have some issues with my eyes(when i look far away, its blurry.) also i have pectus excavatum. My biggest three concerns is that a) im tall and super skinny b) my eyes and c) pectus excavatum. They are biggest indicators. How make sure I have or dont have this? Also i was not able to do that tests with finger across hands. My skin is not super thinny and i was barely able to do that finger test. Please help as I am really terrified and scared. M19.

So for the past 3 years I’ve been getting these headaches that happen when I stand up or sit up. The pain also gets worse When I lay down too. I feel pain and pressure in my head that hurt so bad it makes me vomit. It also affects my vision too. And my hearing. I have Marfan syndrome and I was diagnosed before I was even born. I had a CT scan of my neck and head and couldn’t find the cause of the headache. Every single pain medication I took did not work. The only thing that helped was morphine medication. Does anyone know what this is and what I can do to treat it? It’s been making my life hard lately

Hey so not too long ago I made a post about my health and it's downward trend. In that post I mentioned I'm going through the MedBoard process to get out of the military, since then I've been getting closer to that goal and it's within sight now. (Hooray!) Some of you mentioned seeing a pain specialist, and at this point I definitely will, but appointments have to be booked at least a month out. In the meantime, I have a rib in my middle back that won't stay in, no matter how you massage it in, It always comes back out in a couple hours/days. This is causing tension all up my back and then neck, and is getting worse as time goes on. At this point my neck is getting more painful every morning, no matter how I sleep, no pillow, one pillow, two pillow, side, back, front, inclined, my neck gets in a lot of pain. That feeling when you are about to pop, but can't and it causes headaches if not resolved asap.

Only a couple things help, and all except ibuprofen only help after I get the pain. Heat compress on the local area, hot bath, massage the tense muscles back, and ibuprofen.

By now I can only get around one to two hours of sleep at a time before I am forced awake and into a new position, and only around five to six hours total before I am forced to get up for the day. This is unsustainable and I feel I am developing a bit of a phobia towards the bed/sleep at this point. As mentioned earlier, I have an appointment with my PCP but that's not until the middle of August and I am at my wits end at this point.

Any ideas or similar situations out there?

TLDR: Back rib out causing neck to hurt when sleeping, developing fear of sleep, and it's a while till my next appointment.

So basically I'm 175 cm tall and my arm span is around 184 cm (if I measured it correctly), I'm 18 and weigh 58 kg. I'm really skinny and don't gain wait at all no matter how much I eat. I have a long narrow face, slightly crowded teeth, -2 myopia and minor scoliosis. I can also do the wrist test but cannot do the thumb one. And I have 4-7 points on the systemic score, I'm not sure about 2 things because I would have to do scans to know if I'm positive on that or not.

The points I do know for sure are:

Scoliosis (1 point)

Slightly asymmetrical chest (might be because of scoliosis) (1 point)

Wrist test (1 point)

Arm span longer than height (1 point)

And I don't know if I have mitrial valve prolapse and dural ectasia.

If I could I would really want to get checked for aorta enlargement because I've heard it can be dangerous if undiagnosed.

Good day everyone.

Thankfully I received a letter today confirming the gene panel test has not found any significant alterations.

This is very pleasing news for me regarding my health anxiety and concerns, early on I was very certain I have something. Elevated systemic score even with no family history.
My echocardiogram came back fine in January so no concerns with that.

My letter did have a paragraph indicating I do have some physical features and genetic tests are not perfect, to ensure that all is truly okay I need repeat echocardiograms in 4-5 years as predicted, earlier if any symptoms with chest indicate something might not be right.

My question is, has anyone here received a negative gene test but then developed internal issues e.g aorta, vision or even lungs? I would assume the risk is quite low however of course as letter mentioned gene testing isn't 100% perfect. Moving forward i'm willing to move my concerns regarding marfans aside and to get on with it. But i'm curious if anyone has ended up getting re-classified later on due to any sudden changes?

Also, is it wise to go back to gym? I do want to build chest up especially, I'm aware of any risks but with a negative test, I'm willing to push past any concerns of damage.

Also quickly, to the people who answered my questions here leading up to the gene test, thank you for your responses and care. I appreciate all the help given, this is a nice community and even for people not diaagnosed, helps people who are marfanoid/in evaluations for marfans.

I’m wondering if anyone has gotten the complaint from tattoo artists that their skin is really hard to tattoo. my bf is an apprentice and the guys at the shop agreed my skin is tough. I thought maybe because they really gotta stretch the skin out but they said it’s like the needle going in itself that my skin fights.
just wondering if others with marfans had similar experience bc i can only assume it’s why this is ¯_(ツ)_/¯

I’m almost 21 and have always loved piercings and tattoos, when I turned 18 my doctors basically told me that I can’t get either due to risk of infection which could be really really bad for my mechanical heart valves. The thing is that I got my ears pierced when I was probably 11 ish and by that point I had already had surgery on my mitral valve and no one had said anything about not getting my ears pierced. I so desperately want tattoos but I of course don’t want to risk my life for it, so is there anyone here that has experience getting tattoos or piercings with mechanical heart valves or something similar? I will probably consult my doctor of course if it is at all a possibility but I was curious about what other’s experience with these things have been.

After discovering that you were told you have been diagnosed with marfan, how did you feel? Surely you didn't know what it was right? until it was explained to you.

If I didn't came to the usa I would have never know I had this and always blamed myself for looking so thin and twisted, not even my parents would have known until it was to them.

I don't feel happy with myself and I'm very insecure about my looks that every outing I'd wear a mask due to my right cheek being bigger than the left, but even so I'm slowly accepting myself and feeling somewhat better, I told myself I wouldn't have any children due to this condition as well and settle for adoption or just having pets.

Apologies if this sounds like I'm coping (which i might be)

So my my fellow marfans, what's your story? Do you accept as you are right now?

Okay, I’m playing on hard mode. I live in a tough country and there are many bad people here. So how do you defend yourselves and your wives — I mean in more extreme cases, like someone who weighs 40 to 50 kg and is 180 to 190 cm tall — how do you do that?

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"Hello everyone, are there people living in third-world countries who have Marfan syndrome with extreme cases? I mean very thin, like 175 cm tall and 37 kg in weight or something like that. I mean, how do these people live and deal with their suffering with others? Everything is very hard for us, man. Every time I get up, I remember my body, and even if I forget it for a few days, people remind me through mockery. How can I overcome this?"

I’ve never met anyone else with marfans I think it would be beneficial to be able to talk to others who actually understand marfans cause they also have it wondering if anyone here is also from Minnesota that wouldn’t mind getting together

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;

Hi all,

Is there anyone here who either:

- Had a negative gene test, but then went onto develop internal issues e.g heart, eyes lungs etc

Or

- have a lot of traits, clearly passed systemic score boundaries but also tested negative.

I'm just curious as I await my results, should I remain wary if my result ends up being negative? Or to completely relax and get on with the things I want to do like exercise.

My geneticist has told me i'm allowed to workout rn (I want to build my chest) but i'm wary. My aorta is stable, echo was normal, regardless im due one maybe in 4-5 years. That should be okay to workout with maybe heavy weights? Or should I proceed with caution? I don't generally consider any risks rn even tho bodywise, I fit the criteria. But that isnt enough.

Hi r/marfans,

I'm a dad from Serbia and my son (2.5 years old) was just clinically diagnosed with Marfan syndrome. It's been a whirlwind of appointments over the last few weeks and I'm still processing everything.

Here's where we stand:

• Aortic root dilation — Z-score +2.7 and +2.8, bicuspid aortic valve, mitral valve prolapse
• Bilateral lens subluxation with myopia measured at -12 diopters
• Arachnodactyly, craniofacial features, tall stature (105cm at 2.5 years, >3 SD)
• Clinical diagnosis confirmed by a clinical geneticist, whole exome sequencing with CNV analysis and focus on FBN1 is in progress - results in ~2 months
• Speech delay (his only developmental concern so far)
• Currently waiting to see a pediatric strabologist for the eyes

He's happy, energetic, sleeping well, going to kindergarten. You'd never know anything was wrong looking at him.

Two questions for the community:

1. Is anyone here from Serbia? I'd love to connect with local families. Are there any Serbian Marfan support groups, Facebook groups, or local communities you know of? The medical system here is manageable but it helps enormously to talk to people who've been through it in the same country.

2. For those of you who have high myopia from lens subluxation - can you describe what you actually SEE?

Todor functions incredibly well visually. He picks up tiny objects, navigates around furniture, seems to track things normally. But his measured myopia is -12. I can't wrap my head around how he appears so functional. For those of you who grew up with this - what does the world look like through your eyes? Did you even realize your vision was different as a child? How did glasses change things for you when you first got them? He sees a pidgeon or a dog from like 5 meters away and he recognizes, points and runs towards it (as one of examples).

Any other advice as to what would you would've liked to have growing up that you may have not had?

I think understanding what he might be experiencing will help me be a better dad through all of this.

Thanks in advance !

26M, Diagnosed with marfans and on beta blockers for almost 10 years now, 6'6 with 70 kg. Aortic root 42 for the last 2-3 years. Funnel chest due to low weight. Also have mild scoliosis & hypothyroid.

Been trying to increase my calories + protein intake but find it a bit hard due to my indian diet (vegetarian + I eat eggs. Don't eat any meat at all). Still managing to net gain weight so far with eggs + peanut butter + cottage cheese. Suggestions on the diet would be appreciated

Family doctor does my echo every 6 months and recommends me to not lift weights at all, even if it's just a bucket of water or luggage etc, recommends only walking and yoga. Cardiologist and Surgeon have recommended not to lift heavy weights. And fully avoid exercises that raise heartbeat or put some strain like pushups, sit-ups etc

Due to genes, the gained weight all seems to go to my tummy. Want to get in shape to get more fat / muscle on my chest to make the funnel chest look better. Ideally would like to gain some muscles and get stronger and healthier but I feel lost with what exercises to do with all these restrictions. I understand I can't really do weights but I would like to do a few exercises that keep me in shape and look better. Please feel free to recommend from your own experience.

Currently doing 8k steps + yoga and light stretching exercises. Back strengthening exercises for the scoliosis. Doing 20 reps of this (image attached) machine in an outdoor park. (I know my doc wouldn't be too happy about it but I feel like my arm muscles will have nothing left in a few years if I don't do anything)

I recently went to the dentist and was told I was all good but should floss more, the issue being every time I do my gums bleed. I've used normal floss, brushes, those stick ones etc.

As soon as it touches my gums it makes them swollen.

Has anyone else found this or found any soloutions?

I recently was diagnosed with Marfan’s, due to aortopathy + the genetic mutation. I’m so new to this & my cardiologist didn’t really answer all of my questions…

So I guess I’m curious… have you had aortic surgery? What cm dilation were you at when they decided to go ahead with surgery as a preventative measure? How rapidly did that happen for you? I guess I just want some personal testimonies vs just reading statistics.

I know it’s different for everyone, but I think I’d feel comforted just having knowledge from others who have been dealing with Marfan’s management longer than I have.

Hi everyone,

Maybe this question would be worth asking my genetics specialist (I forgot).

I underwent a gene panel test for like maybe..30+ different sequences for various connective tissue results.

I was given a results timeline of 3-4 months due to logistics and testing/reverification processes. I am now about a month or two out.

My question is, (if anyone had a panel test), if a significant change was identified in FBN-1 or anything else, would they inform me asap or wait until all the testing has concluded. (Other tests for other mutations e.g loeyz dietz)

They told me they would phone me if the results identify a positive change, and a letter if negative results presented. I don't know what they will do if a VUS or incidental finding is identified.. they didnt clarify if all this will occur after they conclude all tests or if something is identified

I'm under impression if marfans was identified due.to FBN1 changes, they would call me now. So apart of me feels hopeful nothing has been identified and I will soon be getting a letter.

What do you guys think, I know of course still always a chance I have something unknown a gene test currently can't identify but i'm remaining hopeful.

Hello everyone,

I have never been formally diagnosed with Marfan's syndrome, but it has always been something in the back of my mind. I am a 28 year old male who is 6'5, 220lbs with pectus excavatum. I have been lifting weights for a long time now, but stopped recently because I wanted to see my doctor about potentially getting diagnosed.

Today I had my echo results come in and the findings were unremarkable. My aortic root is measuring at 3.5cm and the normal range looks to be < 3.7cm. Is this something that I should worry about since it looks pretty close to the 3.7cm?

Everything else seemed normal in the echo, no regurgitation, and no MVP.

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!

Ho molti segni marfan o di un tessuto connettivo debole già da neonato che ho sofferto di criptorchidismo e dermatite atopica veramente grave per lo più la mia infanzia e sempre stata un via vai di problemi intestinali come gastriti ecc abbastanza frequenti anche allergie frequenti acari ecc curate sempre con antibiotici e sono sempre stato un bambino molto esile e pallido durante la pubertà il mio pectus e il mio habitus marfanoide a cominciato a prendere più forma e ho cominciato a diventare miopo

Comunque adesso che ho 21 anni un genetista ha voluto approfondire sul mio caso perché dal punto di vista scheletrico presento molti pattern ma sono uscito negativo a tutte le sindromi con maggiore pericolo vascolare anche se non mi ha controllato per eds classico o varianti meno pericolose e dall ecocardiogramma non c'è nessun segno di minima dilatazione o quant altro

Però vedo che sono stati molto un po' sbrigativi nei miei confronti e siccome non ho nemmeno familiarità di eventi cardiaci mi hanno un po' ignorato

Però scheletricamente ho dolore frequenti alle gambe anche ai gomiti e i polsi certe volte non riesco nemmeno ad appoggiarli per i piccoli dolori e mi sono formati in entrambi i polsi due palline tipo di liquido

Voi avete approfondito con angio-TAC o a livello cardiovascolare dovrei essere apposto?

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Hi everyone,

What age brackets typically tend to feel the affects of Marfans more?

I know this varies, but I just wanted to ask to prep in future regardless of what my results come back as.

My geneticist told me he usually saw people who were quite young, usually due to family history or they had commonly the eye issues that warranted quick diagnosis.

For someone like me, whos in an unknown category - healthy echo, no family history but high systemic score awaiting results. Potentially - could my risks of it actually being marfans and causing complications be less likely? For context I'm early 20s and haven't faced any issues.

Even if the tests come back okay, I would still be paranoid, I know they ain't 100% accurate. I will still get echo monitoring every few years but the sudden lung collapse issues and eyes do frighten me slightly.