A question for people with Marfan syndrome.

[J. van Deijck]

So, my doctors say there's a really high chance that I have Marfan syndrome since I show lots of the symptoms. But I'm still confused because even though I'm tall, I'm not very slim. So I have a question to people who actually know the subject: is it true that being slim is not 'necessary' to have this disorder?

I'm also going to get medically tested soon. Does any of you know how does it all look like? What do they check? What can I expect?

If anyone feels like answering these questions, I will be grateful.

[EmotionalAndroid]

I am so glad that you advocated for yourself and found a doctor who was willing to take you seriously. I recall you saying you had some really dismissive doctors in the past, so I am happy you've found a better one! :)

Being slim is not actually a necessary characteristic of Marfan Syndrome. To be honest, being tall is not necessarily a requirement either. I've been to a conference for Marfan Syndrome and you would be surprised at the diversity in Marfs! Tall, short, and all weights were represented. Just like everything else, people can come in all shapes and sizes and not everyone experiences the syndrome in the same way. Usually doctors look for a few key symptoms or a combination thereof, like specific heart problems, the ratio of your height to your arm span, over-flexibility in the thumb, spontaneous pneumothoraces, etc. For example, I am very tall and thin, but I do not have any of the heart problems that are so key in the disorder. However, I have more joint and skeletal issues. While I never went in for an official genetic test, I am highly suspected to have the syndrome.

That being said, I unfortunately cannot offer any insights into the genetic test itself. I've never had it done. When I was younger and before there was had a genetic test for this, I had a lot of other tests done to get a suspected diagnosis. These included some simple measurements of my limbs in relation to my height, a few x-rays, and an echocardiogram. There might have been more things, but I was really young and do not recall. But none of them were a big deal, to do remember that.

You might have already looked at this, but I found this online resource about the genetic test. If you haven't already checked it out, it might have some answers for you! :) The Marfan Foundation website is full of really great articles and things to help you learn more about the disorder and healthcare options.

I hope this has given you some good information. Feel free to ask me any other questions you may have. I actually used to be big into spreading Marfan Syndrome awareness, so I'm really happy to help out and share experiences with another Marf! :)

[J. van Deijck]

Yay! Thanks for your answer, I always appreciate it <3

It has actually happened when I ended up in the hospital after what my ex did to me, it has affected my heart seriously ._. I talked with the doctors and they say it's very likely. You see... I thought I was 1.72m tall (5'7), but they have checked it and it turns out that I'm actually 1.78 (5'10), which is actually high for a person who was female assigned at birth (the average women's height here is less than 1.68m/5'6, it's exactly how tall both my mother and sister are). My dad is very tall as well - he is 1.88m tall (6'2), has the same heart problems as me and his fingers are long and flexible. So I have the reason to believe that he suffers from this disorder and I just got it from him (I know it's hereditary).

My arm span has been measured and it's longer than my height. You have already seen how flexible my thumbs are (my mother and sister are shocked that both me and our dad are able to do it). I have these heart problems, too. The only things that 'don't fit' is that I'm not skinny (my dad is) and that my eyesight is not that bad, just -2.0 diopters and nothing more.

Does it also count that my hands and legs are visibly crooked and my ankles and wrists are too thin for the rest of my limbs? :o

Anyway, thank you for your answer and for the link, somehow it gets me calmer <3 :3

[EmotionalAndroid]

From what you describe, it really sounds like you might have Marfan Syndrome. (I am AFAB and I'm 5'10", too, actually!) Keep in mind that I am not a doctor, though!

I am not sure about limb crookedness, but I know Marfan patients do often suffer from scoliosis, which is crookedness in the spine. I have pretty significant scoliosis, so I'd be even taller if my spine was straight! XD The thin wrists and ankles may be a Marfan sign as well, but I am not sure.

Here is another link you might be interested in. The NMF now has a forum community, where you can get opinions from a lot of others who have experience with Marfan Syndrome. I've actually never used their forums, but it might not be a bad place to look.

I'm glad you're feeling calmer now! :)

[Nylocke]

The only thing I know about marfan syndrom is that when you're really tall and have long limps and what not you could possibly have some kinda tear in the heart because of circulation I think. I only saw it on one of those ER type shows but I do know about it anyway. Its definitely a thing to look into but that sounds really scary that you ended up in the hospital because of your ex though o-o

[J. van Deijck]

Thanks you both :3

I'm getting diagnosed and the diagnosis gets real. I must admit I've never felt as much alone as I feel now :( I promised to keep calm, but I am torn. Here at least I will get some understanding :(

The sitiation with my ex was like this:

After breaking up with me, he has texted me at night, saying he's going to commit suicide. I have called the police and couldn't sleep for the whole night because I didn't know if they'd be too late. And later he texted me, being mad at me because I interfere and saying we can't be friends anymore because I've ruined his life.

This situation has caused me too much stress and almost got me a heart attack. That's why :x

[EmotionalAndroid]

Getting a solid diagnosis is important so you can monitor your health and healthcare professionals will take you seriously. I can understand how it would be scary at first knowing that you have it, but it should also bring a sense of security as well. There are no more unknowns and now doctors will know how to treat you and what to watch for. I always wear a medical bracelet stating that I have Marfan Syndrome so that if anything happens to me, emergency responders will know exactly what to check for without wasting time.

Please do not feel alone! I know I'm nowhere near you geographically, but I'm a fellow Marfan ace and you can always contact me when you want to talk! I'm not an expert or a doctor, but I can share my experiences.

I'm so sorry to hear about the situation with your ex. You did the right thing by calling the authorities and you should not feel bad about that! I don't know this person at all, but from what you described, that was a very selfish and immature thing for him to do. Please don't blame yourself for any of that! *hugs*

[WinterWanderer]

*lots of hugs*

I don't know much about Marfan besides what everyone else has already told you. But I agree with EA, at least once you get a diagnosis, you'll know for sure what's wrong with you and doctors will better be able to help you.

Please don't stress yourself out too much, you're not alone. :) AVEN is here for you!

[J. van Deijck]

Aww thank you both <3 *hugs*

I've stopped blaming myself for what he did, but also I can't forgive him :x but it's another story :<

Now the thing is that I can't really deal with myself. Suddenly everything that is 'wrong' in my body has one explanation. And I promised to stay strong,but it has hit me hard :(

How am I supposed to like myself? :(

[EmotionalAndroid]

I sent you a PM. :)