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...
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Well, A Diagnosis Finally!
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I have been absent for quite sometime from this website because of illness.
Anyway, I finally got an answer today from my genetic doctor about my condition. I have Ehlers Danlos Syndrome Classic Type I with an emphasis on Marfan as well. My son is being seen in October for Marfan and I will be tested (if the insurance approves) for the gene for Marfan syndrome. I fit so many of the criteria during the exam today for Marfan but yet I fit Ehlers so well too. I passed all the Marfan tests they do with flying colors...not something I am glad to have done mind you.... So, Dr. dx me with Ehlers until we get the Marfan results back. The 2 issues run so close together, it is hard to differ, so he is leaving it open until I get tested and sees my son. AT LEAST I GOT A NAME FOR IT NOW.... I have lived in so much pain and had so many issues, no one could put a finger on it. He put the dots together and spent 2 hours with me. That is unheard of....he is 1 in a million doctor. His name is Dr. Schneider and he is in Springfield, IL. He is the only dr. here in this field. It takes a long time to get in...but he is very good and like I said....he doesn't care about time...just you. I hope you are all well and love finds you every day. I will be in touch more. Wish me luck on my disability hearing tomorrow....unlikely timing with this dx since I made this genetic appt long before I knew my hearing was coming...I call it a long time coming and karma...good karma. Take Care, Jenny Posted on 07/22/09, 10:07 pm |
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I was glad to read that you finally have a name for your disorder, that your disability hearing will yield positive results for you, and that you will be able to manage your situation successfully. Call it luck or karma, whatever works, and I am glad that your situation is improving so well. 
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Thanks Paxton. How are you these days? Sorry I have not written. I have not been well lately. My left shoulder went out and now I am really sick...never ends. Just wanted to say a quick hello and thinking of you.
I don't want to have EDS but I do and I just have to find a way to live through the pain, etc like I always have. It is hard some days as you know. Hugs to you! Jenny
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Granted, not all days are good, but not all days are bad, either. Although Marfan has caused me quite a lot of pain over the years, currently I'm pain-free, and enjoying it. I regretted reading of your hospitalization. I hope that your doctors are skilled in EDS management, and that you will benefit. Folks with Marfan and its cousins find that their joints go out more than they do, because, when their joints go out, they don't.
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