Discussions By Condition: I cannot get a diagnosis.

I think I have Marfans Syndrome..what do you think?

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: Joe_17
  • March 30, 2010
  • 07:47 PM

I've been going to the doctors for 4 months without diagnosis..

I'm 20 year old male..usually healthy...average weight for my heigh...family doesnt have any medical problems to my knowledge

Started off with breathlessness moments..
Puffy eyes
More wrinkled skin (Fingers looking more wrinkled and forehead lines)
Chest Pains (Sharp stabbing pain once or twice a day for a few seconds)
Breathing difficulties (Like it's out of synch)
Mild joint pains (especially a pain in the spine more often)
Knuckles looking more boney than before (looks like arthiritis but it isnt painful) Also hands look a bit webbed if I hold them out straight
Bones feeling more brittle (Sometimes making a clicking noise)
Teeth feeling brittle/High platelat
Sore looking mouth at back of throat and looks wider with white spot/ulcer thing at back of throat but my throat isn't sore ******
Looks like a nodule on my throat
Ears looking thinner/longer

Just to note..had tests for thyroid that came back clear..standard blood test and rheumatoid factor came back ok..heart tracing is ok and stethoscope on heart is ok too..

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3 Replies:

  • You don't have Marfan's syndrome. Stop looking at yourself in the mirror.
    Anonymous 42789 Replies Flag this Response
  • I've been going to the doctors for 4 months without diagnosis..I'm 20 year old male..usually healthy...average weight for my heigh...family doesnt have any medical problems to my knowledgeStarted off with breathlessness moments..Puffy eyesMore wrinkled skin (Fingers looking more wrinkled and forehead lines)Chest Pains (Sharp stabbing pain once or twice a day for a few seconds)Breathing difficulties (Like it's out of synch)Mild joint pains (especially a pain in the spine more often)Knuckles looking more boney than before (looks like arthiritis but it isnt painful) Also hands look a bit webbed if I hold them out straightBones feeling more brittle (Sometimes making a clicking noise)Teeth feeling brittle/High platelatSore looking mouth at back of throat and looks wider with white spot/ulcer thing at back of throat but my throat isn't sore ******Looks like a nodule on my throatEars looking thinner/longerJust to note..had tests for thyroid that came back clear..standard blood test and rheumatoid factor came back ok..heart tracing is ok and stethoscope on heart is ok too..Hi there! I just read your post. I have two brother in-laws with Marfan's Syndrome, and they are very tall, both suffer from scoliosis as well as a result. Are you very tall? Also I find another "symptom" is very long arms and legs in proportion to your body. Just a though for you.
    Anonymous 42789 Replies Flag this Response
  • I have family members with marfans. Marfans is a problem with connective tissue in the body. You did not mention extreme height, this is the most obvious symptom. A marfans patient looks stretched out, for lack of a better description. Everything seems longer or stretched out, so fingers are longer than usual, arm length, leg length, etc... Most concerning is that the heart muscle is also stretched out which can cause an aortic tear that can be life threatening. From the symptoms you have described, it does not sound like you have Marfans syndrome to me. Regarding your thyroid, you probably only had a TSH test done which is not really the ideal thyroid test. It can often mislead or cause a misdiagnosis by the physician. We now know that even levels on the "low end of normal" or at least what's considered the "normal level" (they keep changing their minds) can cause a lot of symptoms and health problems. Also if you truly have a thyroid problem there could be many causes and a test such as the TSH would not identify some of the causes (thus the misdiagnosis). A much better indicator would be the TSH, AND a free T3 and free T4 test. This measures how much thyroid hormone is actually in your system and being converted to useable form. (The body must convert T4 to T3 so that it is in useable form otherwise the person will appear healthy on a TSH test while actually suffer from hypothyroidism) A good doctor will also consider a patient's symptoms in conjunction with the blood tests, NOT just the blood tests!!! You are not a piece of paper after all, you are a human. I suggest you go to Mary Shomon's website and the "Stop the thyroid madness" website and look up info on symptoms, treatment, etc... See what you think. Find a doctor who will listen to you! Meanwhile, based on your symptoms, I would suggest you cut out ALL processed foods (anything out of a can, box, bottle, etc...) and foods with chemicals (like conventional milk or meat with hormones added) for a month or so and see if your symptoms improve. Try to eat as much fresh food and organic food as possible. Wash your fruits and veggies really well, peel if you can, to get rid of chemicals. That's what it sounds like to me. Also I would recommend a good whole food multi vitamin (a vitamin made from real foods, NOT a synthetic vitamin, it's too ******n the body often not absorbed) and a good probiotic (I suggest a refrigerated one and one with a far out expiration date so that it's as fresh and potent as possible). You should also consider a food allergy or intolerance. You can research this on your own. It can be easily diagnosed with a blood test. If you want to attempt to figure it out yourself, the most common food allergies/intolerances are eggs, dairy, gluten, and soy. You can try to eliminate these foods, one by one, each for a period of weeks, then add them back into the diet and see how you feel. Look for any symptoms such as fatigue, dizziness, immune problems, etc...
    Anonymous 42789 Replies Flag this Response
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