Re:NCC - anyone here with Marfans?

[Guest guest]

My official diagnosis from when i went to NIH and saw Dr. McDonnell is Classical

EDS with Marfanoid features. With marfans you have to have a certain number of

major symptoms and a certain number of minor symptoms from certain organ

systems. It is very confusion. Basically i have the physical features and not

enough severe internal features. I have the height, and the fact that i am

taller on the top half than bottom and my wingspan and height is not equal. I

have extremely long fingers. I have minor mitral valve regurgitation but that

is the only cardiac symptom of marfans i do have. I have a pacemaker but that

isdue to sick sinus syndrome and neurocardiogenic syncope. The NCS is

attributed to the chiari. I have the high arched pallete, the crowded teeth

etc. Then i scored off the charts for classical eds. It has the hypermobility

that the more common eds type 3 has, however i have extremely thin skin, i have

to wear polo shirts that i can unbutton because when i take a tshirt off and it

goes over my ears it causes my ears to tear from the skin. Then i also have

extremely slow healing which has caused numerous problems.

Dr. McDonell told me she has several EDS patients that have marfanoid physical

traits that just dont meet all the guidelines. I am thankful i just have the

pyysical characteristics and done have to worry about aorta tears, and ruptures

and aneurysms. It cant hurt to talk to the new nsg about marfans as long as he

is an understanding one that understandsyour symptoms are for real.