I need a geneticist immediately

[JoyHart]

My mother was told 12 years ago she had Ehlers Danlos. The doctor said he could tell by "the shape of her ears." Since then she has had "heart episodes" which they could never actually call heart attacks. She had ignored the doctor who diagnosed her since he would not perform testing because the tests at the time were very invasive. Now she is 42 and has mitral valve prolapse with 2 heart valves now regurgitating. She is in pain a lot, especially in her neck and nothing seems to ease it. She has been in and out of the hospital the past couple of weeks and they can't find anything but she is very elasticy and very flexible and has all the typical signs. I am her 21 year old daughter and show all of the typical manifestations. We can not get a geneticist to see us until September. From all appearances it seems she has the vascular type. I am accepting there is not much they can do, but if she has the vascular then so do I. I need to know soon. I also have extreme endimetriosis, just as she did. Please, can anyone tell me of who diagnosed them or a geneticist? I need to get her diagnosed before September. I don't mind flying to where ever to get us help. Also, does any of this sound familiar to anyone? Like the typical vascular type? I am desperate at this point to help her. Any help would be so appreciated.

[selmaS]

  Yes, sorry NS = neurosurgeon...I know he refers his patients to Dr Fracamano.He is located in Bethesda, MD.....and Lanham, MD

Here is a link to the Chiari forums list of Drs that he is on...there is more info on him there-

  http://www.medhelp.org/posts/Chiari-Malformation/LIST-OF-CHIARI-SPECIALISTS/show/1503562

Wow, I would call asap and let them know the attacks she has been having so they get her in soon.

Please keep me posted : )

  "selma"

[JoyHart]

He is a neurosurgeon? I'm not familiar with the short hand yet. Sorry. Where is he? I can not tell you how much it means to me that you're helping me. Starting this weekend she has been going through 4 hour periods of full body paralysis. I mean she can't blink or move a finger barely and it is prefaced and followed by the pins and needles tingling and numbness all over, especially in her face and limbs. I'm really concerned if she is getting worse.

[selmaS]

  Did u try Dr Henderson, he is a NS but seems to know about these issues too, and he may be able to refer her in to Francamano.

[JoyHart]

I actually contacted francamano and she is back in to September too and has an extensive pre requisite exam survey before she even considers you. My mother saw head nuetologists of penn hospital this past weekend who all agreed they thought she had it. But with her declining health I want her to have a diagnosis before someone thinks she is having a heart attack and gives her thinners and bleeds her dry. Thank you for contacting me so quickly. It is very comforting.

[selmaS]

  Hi, there is a very good Dr in Baltimore, MD....not sure where u r, but she is an EDS specialist...Dr. Fracamano (sp?)

  I was dx'd by my NL and NS when I was at TCI in NY for an eval for chiari and tethered cord...a good neurologist can dx EDS...and would send u to a geneticist like Dr Fracamano.

  "selma"