Discussions By Condition: I cannot get a diagnosis.

Marfan's

Posted In: I cannot get a diagnosis. 5 Replies
  • Posted By: Anonymous
  • February 3, 2011
  • 10:49 AM

Hi there! I haven't been active here for a while, but I just have a few questions with respect to Marfan's. I would appreciate if a doctor specialized in similar syndromes could get back to me!
Almost 5 years ago I was diagnosed with "atypical" Marfan's (the exact words of the doctor). To this day, I am still wondering whether I have it or not.
What are my pointers:
-Long and thin fingers in hands and feet (However, I do not pass the wrist and thumb test), my hands just seem more delicate than others' hands.
-High arched palate.
I have no other issues related to the syndrome and there are no members in my family that would display the characteristic Marfan's look.
Based only on the above, I was diagnosed by a quite obnoxious professor of medicine at a University teaching hospital, who told me to check my aorta twice a year. Since then, I have been examined by two cardiologists (both say that my heart is in excellent condition and no signs of Marfan there) and two ophtalmologists, who did not find any issues related to Marfan's in my eyes either.
Now, my questions are:
1. Should I just let it go and decide that this is how my skeleton is built and it is not necessary to be related to Marfan's?
2. Should I maybe have some genetic testing?
Any insight into this would be appreciated.

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5 Replies:

  • See the National Marfan Foundation website www.marfan.org.
    gr8tful 175 Replies
    • February 4, 2011
    • 04:04 AM
    • 0
    Flag this Response
  • Hi there! I haven't been active here for a while, but I just have a few questions with respect to Marfan's. I would appreciate if a doctor specialized in similar syndromes could get back to me!Almost 5 years ago I was diagnosed with "atypical" Marfan's (the exact words of the doctor). To this day, I am still wondering whether I have it or not.What are my pointers:-Long and thin fingers in hands and feet (However, I do not pass the wrist and thumb test), my hands just seem more delicate than others' hands.-High arched palate.I have no other issues related to the syndrome and there are no members in my family that would display the characteristic Marfan's look.Based only on the above, I was diagnosed by a quite obnoxious professor of medicine at a University teaching hospital, who told me to check my aorta twice a year. Since then, I have been examined by two cardiologists (both say that my heart is in excellent condition and no signs of Marfan there) and two ophtalmologists, who did not find any issues related to Marfan's in my eyes either. Now, my questions are:1. Should I just let it go and decide that this is how my skeleton is built and it is not necessary to be related to Marfan's?2. Should I maybe have some genetic testing?Any insight into this would be appreciated.Maybe...you only have one copy of the gene and therefor a lesser version in severity. Are you by chance Rh-Negative or have Rh-negative relatives?Do you have the typical hump in your back?
    thefarrellfam 46 Replies
    • February 26, 2011
    • 07:11 AM
    • 0
    Flag this Response
  • No, none of the two. Just the high arched palate and long, thin fingers and toes. Other than that, nothing. I am short-sighted (moderately, around 2.5), but then again who isn't. Recently I had an in depth examination of my eyes because I'm planning corrective laser eye surgery and no Marfan's sign there either. I don't know...Should I just forget about it?
    Anonymous 42789 Replies Flag this Response
  • Hi there! I haven't been active here for a while, but I just have a few questions with respect to Marfan's. I would appreciate if a doctor specialized in similar syndromes could get back to me!Almost 5 years ago I was diagnosed with "atypical" Marfan's (the exact words of the doctor). To this day, I am still wondering whether I have it or not.What are my pointers:-Long and thin fingers in hands and feet (However, I do not pass the wrist and thumb test), my hands just seem more delicate than others' hands.-High arched palate.I have no other issues related to the syndrome and there are no members in my family that would display the characteristic Marfan's look.Based only on the above, I was diagnosed by a quite obnoxious professor of medicine at a University teaching hospital, who told me to check my aorta twice a year. Since then, I have been examined by two cardiologists (both say that my heart is in excellent condition and no signs of Marfan there) and two ophtalmologists, who did not find any issues related to Marfan's in my eyes either. Now, my questions are:1. Should I just let it go and decide that this is how my skeleton is built and it is not necessary to be related to Marfan's?2. Should I maybe have some genetic testing?Any insight into this would be appreciated.Dont' waste the money on genetic testing. I am also on an atypical marfan's watch. How is your eyesight? If your eyesight is strong, then it is not a high risk. Continue to get the aorta checked, but outside of that life life normally. It isn't the heart that is the problem with marfan's, it is the aorta dilation at the root(where it attaches to the heart that matters).
    jackrorabbit 113 Replies Flag this Response
  • Dont' waste the money on genetic testing. I am also on an atypical marfan's watch. How is your eyesight? If your eyesight is strong, then it is not a high risk. Continue to get the aorta checked, but outside of that life life normally. It isn't the heart that is the problem with marfan's, it is the aorta dilation at the root(where it attaches to the heart that matters).Great info! Hey Jackrorabbit - I bet you and your wife both have Rh-Negative Roots. Come check me out, we are working towards the same goal. Education, Options, Knowledge, Prevention and Real Treatments! http://www.RhNegativeRegistry.com
    thefarrellfam 46 Replies Flag this Response
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