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possible genetic connective tissue disease?
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possible genetic connective tissue disease?

My mother and I have a number of diagnosed conditions that, after doing some research, I suspect are related to a connective tissue disorder.

Both my mother (she's 78) and my grandmother (deceased) have/had skin that sagged, bruised and tore easily--and it looks like my skin is starting to go the same way. Both my mother and I (I'm 57) had/have endometriosis, loose joints, TMJ, arthritis, IBS, scoliosis and disc narrowing that has resulted in sciatica. I have valve disease involving regurgitation of 3 valves, fibromyalgia, a form of arrhythmia known as SVT and was recently diagnosed with emphysema--and I don't smoke!  

In addition, I was born with an umbilical hernia and had to wear corrective shoes for "weak ankles" until I was 11 or 12. Congenital cataracts also run in my family: my mother, brother, myself, my son and my neice were all born with them. My brother, son and neice all required surgical removal of the lenses of both eyes before the age of 2.

Yeah--a bad role of the genetic dice! (I won't even go into the family history of depression, since that's another topic). The research I've done over the past couple of years suggest that connective tissue disease could be the culprit behind all these problems. What really pushed me over the edge was the diagnosis of emphysema (a few days ago). When I researched it, the causes were listed as smoking (no surprise there), inherited deficiency of a protein called AAt or--you guessed it--connective tissue disorder.

I've mentioned the CTD to my primary care more than once and gotten little to no reaction. Before I got a diagnosis of fibromyalgia I was told the pain & fatigue were "in my head". Before I was diagnosed with endometriosis (by which time it was so severe they had to remove all my reproductive organs and still couldn't remove all the tissue), I was told the same thing. So I've been reluctant to push it.

Can anyone give me some feedback? I'm feeling somewhat overwhelmed; I just want to stay in bed with the covers over my head and not come out...
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620923_tn?1405964489
HI...it sounds like u r describing Ehlers-Danlos Syndrome...MedHelp does have a group for EDS....and U may want to stop by that forum to talk to others with similar issues.
http://www.medhelp.org/forums/Ehlers-Danlos-Syndrome/show/417?camp=msc
U will need a good Rheumatoid dr that specializes in EDS and a geneticist.

I was Dx'd with EDS and have yet to get treatment....it can be painful and mimic fibro.

"selma"
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