Discussions By Condition: Congenital conditions

Marfan.

Posted In: Congenital conditions 10 Replies
  • Posted By: Anonymous
  • January 30, 2007
  • 03:21 AM

On an off I have been worried that I have it. My symptoms include,
Long Fingers ( Although I don't pass the wrist and thumb tests)
Long Limbs
Minor Pectus Evac
Severe Myopia
Minor Astigmatism
I was flat footed, but I got it corrected young with soles I think.
I not sure if I have scoliosis, but I did break my back and when to a orthopedist and he did some pshycial tests and didn't mention anything about.
I asked my GP about it and she did the test and said I didn't have it, but I'm still paranoid about it.
I'm 5'9.5 and 150 pounds.
Armspan is 6 foot.
The dentist never mentioned a high arch palate, but I do have an overbite ( caused by a small jaw I believe.)
I also have had two ekgs, a holter, an event montior, an echo, and a stress test only to reveal I had Bicupspid Aortic Valve, not really a symptom but I'm sure it's associated.

Well I have been to all the doctors needed to diagnose it, not specifically for marfans but for other problems, ie I though I had a retinal tear but I was being paranoid, broken back, palipations. That's ortho cardio and opthmaligiost sp. Noone ever mentioned any other problems specified with marfans. Three doctors told me they didn't think I have it, an internal medicine specialst( my gp), my pediatrician, and my cardio still it worries me.,

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10 Replies:

  • Isn't Ehrlos Danlos the opposite of Mafan's??? Did you get this confirmed with your doctor???
    Anonymous 42789 Replies
    • February 3, 2007
    • 11:38 PM
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  • The only blood test that confirms Marfans is DNA genetic test for the gene mutation that specifically indicates Marfans- got to do with collagen and connective tissues. Can GPs actually have this done in the lab? I feel like you have not been fully profiled, and You should go back. There are certain criteria for diagnosing, which differs if you have known relatives with the disorder or not. You should go through your family photos and ask questions before seeing the Dr again. I have been suspecting I might have this syndrome as well. I have a lot of the markers, but I am not abnormally tall for a woman- 5'7", and my wingspan is equal, but I have so many other markers that I am going to make sure my heart is OK to be sure. That is really important for you to check until you have some reliable proof os whether or not you have Marfan's.
    pumibel 42 Replies
    • February 25, 2007
    • 02:29 AM
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  • If Marfans syndrome is definitely ruled out then you need to be tested for Joint hypermobility syndrome. Many of the symptoms over lap Marfans. It is very common to have a Marfanoid body with hypermobility syndrome this is known as Marfanoid habitus. There is also the related disorders Ehlers Danlos syndrome that also shares many of the symptoms of Marfans and hypermobility syndrome. They call Marfans the granfather of these connective tissue disorders -- wonder what they call the rest :D
    Anonymous 42789 Replies
    • February 26, 2007
    • 06:58 PM
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  • I suspected my son have Marfan. He is long, thin with long fingers and arms, but it does not look ubnormal. He had a retinal distachment in one eye, and the other eye has been checked and lazered for a small distachment last week. He sometimes complain about a pain in his chest. He have a spastic colon. My husband and daugther also have retinal distachments.
    Anonymous 42789 Replies Flag this Response
  • It may be worth it to investigate since there are heart conditions related to Marfans that you would want some education about so you don't face misdiagnosis or complications from not getting correct treatment.
    pumibel 42 Replies Flag this Response
  • I suspected my son have Marfan. He is long, thin with long fingers and arms, but it does not look ubnormal. He had a retinal distachment in one eye, and the other eye has been checked and lazered for a small distachment last week. He sometimes complain about a pain in his chest. He have a spastic colon. My husband and daugther also have retinal distachments.Make sure you get this checked out ASAP. If the tests come back negative do NOT forget about Ehlers danlos syndrome. Good luckMidge
    Anonymous 42789 Replies Flag this Response
  • My husband and three year old daughter have Marfan's syndrome. Both times we had to see a geneticist to have it positively diagnosed. Ask your GP for a referral. PLEASE continue to push to reach a diagnosis. Sometimes doctors really need a kick in the pants for you to be heard.
    Anonymous 42789 Replies Flag this Response
  • Apparently you can have some of the markers and not some others. I have been diagnosed with "incomplete Marfan Syndrome" (something which has provoked various reactions from various doctors-is there a thing as an incomplete syndrome?). What I have are some of the skeletal characteristics (long fingers on hands and feet, high palate). I was advised by the doctor who diagnosed it (general practitioner) to have my aorta checked on a yearly basis. I do that, despite the fact that my cardio says that there is no need and that my heart is perfectly healthy. I think that monitoring your heart when you have a suspicion of Marfan's is the most crucial thing to do. From the research I did when I was diagnosed, the only way to make sure whether you have it or not is to have genetic testing-I think that a mutation of a specific gene is what causes it.
    Anonymous 42789 Replies
    • November 4, 2008
    • 01:27 PM
    • 0
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  • Here is the Marfan Syndrome website,http://www.marfan.com/marfan/ They also have links for condtions related to marfan Syndrome. My son was diagnosed 4 years ago with Marfan. He has all the markers except for the retinal detatchment. That doesnt mean it wont happen to him at some point but from what I understand, you can still have marfan and not show or have all the signs..thus makes you a carrier of it. Also, I was told by the diagnosing physician and by my research of it that it can be passed down from either parent or both or it can be a spontaneous mutation of the specific genes that cause the marfan.
    emerald46 2 Replies Flag this Response
  • http://www.marfan.com/marfan/ This site has all the info on marfan syndrome and related conditions. My son was diagnosed 4 years ago with marfan. He has all the markers for it except the retinal detachment. It could still happen to him at some point, never know. From what I have been told and from my own research, marfan can be passed down from either parent or both. If a child is born with marfan it could also be a spontaneous mutation of the genes that cause it. Yes, you can have marfan even tho you dont have all the markers, inward or outwards. Makes you a carrier of it.
    emerald46 2 Replies Flag this Response
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