Eds Evaluation And Ans Issues

[mkoven 0]

I just got back from seeing Dr. Francomano, a geneticist specialized in connective tissue disorders. She says I definitely have a heritable connective tissue disorder that may or may not be eds. I'm not as bendy as some, but she thinks my tissue tears before it stretches. I have a relatively low Beighton score, but sublux all over the place--knees and elbows do hyperextend though. I have crummy discs in my lumbar and cervical spine much older looking than my 42 years. She thinks a lot of my ans issues are brain stem related-- either cervical-cranial settling, tethered cord, or chiari. My supine mri showed some pannus overgrowth. She wants the test repeated upright. I appreciate how thorough she was, but don't really want to have to deal with the possibility of brainstem issues. But I guess knowledge is power????

[Csmith3 0]

Blimey! I'm not sure what it all means but I'm wondering what the next stage is. I suppose there could be useful information coming out of this about long term health risks.

I read posts like yours and marvel about the sort of tests and expertise you can access in the US. Our healthcare may be free at the point of use, but you need to pick your illnesses wisely to make sure it is something that is well resourced! ANS is a particularly poor choice and EDS not much better. So I will remain blissfully ignorant of any possible brain stem related issue but will be interested to hear of any follow up you receive.

Best wishes

[mkoven 0]

A mixed blessing. And I"ll have to fight insurance to repeat the mri in a different position. I guess if I have tethered cord, that's a relatively simple surgical fix. If it's cervical-cranial settling, I'll continue pt to work on neck stabilization and sometimes where a collar. The surgical treatment for that sounds pretty awful. If it's chiari, I think we would watchfully wait. I hope it's none of the above. I'd much rather just have loose blood vessels than something in my brain/spine. A lot to chew on. But I guess I have to get the tests first. I"m just tired of dealing with all this health $%^#

I appreciated that she took me so seriously. And even told me I'm managing quite well, given the crummy circumstances. I actually got choked up at that point. I'm used to feeling (unjustifiably) like this is somehow my fault and if only I'd try harder... I know that's total bunk rationally. But I appreciated having her recognize all the effort I put in and creativity I need. (Long story short, I think my family still sort of believes that I should just cut out all my medical nonsense by sheer force will. Like I"m a loser for having health problems...).