Discussions By Condition: I cannot get a diagnosis.

Marfan Syndrome & Osteomalacia

Posted In: I cannot get a diagnosis. 2 Replies
  • Posted By: Anorak
  • July 6, 2007
  • 07:36 AM

Hi,
My boyfriend was recently diagnosed with Marfan Syndrome. He first became sick with hypercalcemia and was told he had a Vit D deficiency. Things didn't get better and it wasn't until he was having some surgery for a broken collar bone that they found growth on his bones. After a series of tests he was diagnosed with Marfan Syndrome and Osteomalacia. They also saw a secondary bone cancer. He has been told that the MFS is advanced and that he may lose the use of his limbs within a matter of years. Can anyone tell me if
- bone growths are normal with MFS?
- if the prognosis of loosing use of limbs in advanced MFS is normal?
- is it possible that they have misdiagnosed what he has>
Many thanks,
C

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2 Replies:

  • Dear Anorak, I am by no means claiming that I am a medical expert, but I have been misdiagnosed with Marfan's quite recently due to the fact that I have 2 of the syndrome's skeletal characteristics (arachnodachtyly and high palate). All my other tests came back negative. I don't know what kind of tests your boyfriend had, but it is significant to have his heart tested above all, as most Marfan patients experience problems with the aorta. From what I've heard and read, that is the most dangerous condition related to it. There is also genetic testing available. There is good deal of information on Marfan's on the Internet, but if it is Marfan's after all, your boyfriend will have to find a couple of doctors (mainly a cardiologist) who are familiar with the syndrome and start monitoring his condition.In the meantime I wish you both all the best.
    Anonymous 42789 Replies Flag this Response
  • Dear Anorak...here is a link that may be of some use, I hope.Wishing you both well...mommy cat:) http://jrmarfan58.com/_wsn/page8.html
    mommy cat 1654 Replies Flag this Response
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