What is Marfan Syndrome
Marfan syndrome is a connective tissue disorder characterized by unusually long limbs. The disease also affects other bodily structures — including the lungs, eyes, heart and blood...
Join Now
|
My Appt today
|
Watch this |
| View More Posts Ignore |
I went to the rheumo doctor today. That was a waste of time. He just told me what I alreadyknew. I have degenerative disc disease. My spine is degenerating pretty good for a 39 year old woman. He said that even though I am adopted he knows my birth parents or one of them had or has back issues.
I have had so much happen and so many symptoms over course of years. I fit Marfan and Ehlers Danlos but I also have a lot of symptoms involvement that could be MS related. That is why I am part of Marfan group and MS group here. I have no dx yet and getting very frustrated. Very sad. Would my heart be involved by now? That is what rheumo doc said. If I don't have any heart involvement or eyes by now then I don't have it. Is that true? I had mitral valve prolapse since I was 10 and my heart doctor now says it is gone. The rhuemo doc says you can outgrow that. No measurements were done. My armspan is 3+ inches longer than my height. I am ALL legs. We know this because my husband and I measured all of me. I know it takes an expert to do all this but we just wanted to see how much my wingspan was, etc one day. The doctor looked in my mouth (to see about the high arch). I told him I had an expander put in when I was about 12 as I had such a small palate. He did not think I had Marfan based on what he saw. No thumb test. I did wrap my fingers around my wrist. He just passed that off. I even took a picture of my son because my son looks really "marfan like". He has the cave in the chest (not awful but you can see it). He is tall, thin, very long fingers, very long narrow face like me. I am scared for my son. The doc had the stupidity to ask if I wanted him to make a dx of my son based on my his picture? Of course not I said! I just wanted you to see what he looked like. He did acknowlege he had the pushed in chest. Should I pursue it anymore? I have appt with genetic doctor in July. Shoud I keep it or am I beating a dead horse? Did this happen to any of you? I AM GOING MAD. If I don't have something like Marfan or MS pretty soon, I'll be mentally disabled because these docs make me think I'm nuts or something. Help me someone. Any advice/guidance is appreciated. Posted on 04/27/09, 03:04 pm |
| 3 Replies | Add Your Reply |
| View More Posts Ignore |
jennya4,
Please, keep your July appointment with a genetics specialist. Call ahead, to get permission to take your son along. Don't be too hard on your family doctor. He may only have had one course on genetics in medical school, or maybe no courses at all, because genetics is not a major licensure requirement in most state medical school exams. Being shipped from doctor to doctor is all too common among Marfan folks. Keep corresponding, and inform us of the results of your genetics consultation for yourself and your son. 
|
|
|
|
||
| View More Posts Ignore |
I would highly recommend Dr Heidi Connolly at the Mayo Clinic in Rochester, MN. Marfans is her specialty and my experience with her was excellent. I already knew I had marfan's but she evaluated me and ordered all the tested I need and set me up with my surgeon for my valve repair surgery last year. It may not be close to where u live but if you want this peace of mind I would go! As for having marfan syndrome I suppose it's good to know but the MOST important thing about it is continuing to see a cardiologist and make sure your son sees one as well. I was feeling fine and had had what I thought would be my only heart surgery 5 yrs ago but continued my yearly check-ups and that is when my cardiologist saw that my valve needed to be repaired or replaced. Honestly I have lived with marfans my whole life and have had some serious surgeries but I have never let this disorder rule my life. People with marfans can definetly live full and healthy lives. I am proof of that for sure! Please feel free to contact me with any other questions or concerns. Also check out www.marfan.org Its the new website for the national marfan association! Lots of good info. Way more technical then me!
|
|
|
|
||
| View More Posts Ignore |
I would highly recommend you just talking to your doctor about Marfan, if he does not know much about it, he should tell you this....do not stop fighting to know exactly what is going on...I pray you find your solution, or at least a diagnosis.....Don't give up hope, it will come...you are in my prayers
|
|
|
|
||
| Add Your Reply |
