Discussions By Condition: Muscle conditions

I think I may have marfan syndrome

Posted In: Muscle conditions 1 Replies
  • Posted By: idontgetit
  • May 12, 2010
  • 04:01 PM

Well I recently discovered marfan syndrome online when I was looking up a problem I have. When I was 16 years old I got these really bad stretch marks up my back and I was also diagnosed with some kind of arthritis in my lower back.

I'm now 19 years old and I think that I have a few of the symptoms of the disease.

- I'm extremely thin at 5'8" 120lbs and I am male.
- My chest sinks in a bit and I think it's a mild case of pectus excavatum.
- I have crooked, crowded teeth with a overbite.
- I have a speech problem: A lisp. (I think this may be caused by my overbite and/or crowded/crooked teeth though)
- I have been very thin my entire life.
- The stretch marks on my back.
- I was born with a heart murmur.

After discovering this disease I became worried because I think I might have it or one of the similar diseases such as Loeys-Dietz syndrome, Congenital Contractural Arachnodactyly (CCA) or Beals Syndrome, Ehlers-Danlos syndrome, Homocystinuria, MASS phenotype, Shprintzen-Goldberg syndrome, Stickler syndrome, or Multiple endocrine neoplasia, type 2B.

I also have other problems that may or may not be related. On very rare occasions my knee locks. This happens once every few months or maybe even once a year and it usually happens when I am sitting around or laying in a weird position.

My bones ALL crack. Knuckles, fingers, toes, chest, back, knees, neck, and sometimes even my wrists.

Last month I had some pretty bad chest pain so I went to the walk in clinic down the street from my house. The doctor there sent me for a EKG or ECG I don't remember the name but it was a heart test and some blood work. She said she was sending me for a EKG for a irregular heartbeat, I figured it was just my murmur though. The next day I went for my blood work, but later that day my chest pain got so severe that I went to the emergency room at the hospital. They did a EKG or ECG and said that my heart sounded 100% fine. The emergency doctor also said that the only reason I was getting this chest pain was because I was developing an infection or it was just muscle pain and I could only wait it out. She also said that I didn't appear to have a heart murmur anymore. So I waited it out and just as she said my pain went away 2 days later, so I guess she was right and the doctor at the clinic was wrong.

I have also been trying to gain weight because I'm such a small guy and it seems that every doctor I tell just laughs. They say I am small like this because my father wore a size 28/32 jeans his entire life (he was very thin) but when he reached 40 he started to get fat and now wears a 36/32, I wear 30/32. They say it will hit me when I'm older and I will gain but I don't know...

They also do not think I suffer from marfan syndrome or anything similar. They say I am just a small guy and the bad back is from genetics. They blame the stretch marks on a height growth spurt. The lisp is blamed on my teeth, which I think it is from too but hey better safe than sorry right? They also say that my chest will fill out when I'm older but shouldn't that have already happened? I mean I'm 19 and I am pretty sure that I am done with puberty. The only thing I can see happening to me at this point is more chest hair growing in.

I'm sorry this was so long but basically the doctors all say "calm down you don't have marfan syndrome it's VERY rare." I am genuinely worried though and I want to find out if I have this disease because I would rather not die at a young age, I want a family and all that good stuff.

So either the medical care where I live is just bad (Canada). Or I am worrying to much for nothing. What do you guys think?

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1 Replies:

  • Hi. Do yourself a huge favour and stop googling. This will only scare the ***l out of you, not to mention the confusion of all the other possible related conditons. Come and have a chat with us at http://forum.marfan-forum.org.uk/index.php We can help you with genuine links and advice about future tests etc
    Anonymous 42789 Replies Flag this Response
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