GeneChat

RS13306275-GG - Question 1 EDS

livewello

#1

Who with this has EDS? I have pots and had a stroke at 23. I see it’s red but wasn’t able to figure it out. I’ve gotten a handful of red back on the vEDS and cEDS. I’ve had a hard time getting to see a geneticist so this is me speculating and see how far I need to push. Thank you in advance for any insight.

https://livewello.com/snps/share?index=1520138410&id=4504418189049856


#2

Hi,

I have a match with you on this SNP.
I have quite severe EDS Type 3.
I believe I had a stroke around 20 but was robbed off by my doctor as being “too young to have a stroke” so no checkup afterwards. I lost control of half my body right down the middle including my face. My face was completely loose down one side and I dragged myself to my mum by crawling along walls like a floppy zombie.

Anyway back to EDS, I always knew something was wrong with me but doctors could never figure it out and eventually wrote me off as "nobody has that many things wrong with them"
I had to stop working at 28 and go on an invalid benefit but I should have stopped a lot sooner. Now I’m 33 and on 100mcg/hour of fentanyl and things still hurt. I need to get ring splints for my fingers as they are all getting absolutely shagged. I used to type at 130wpm and I can still just about 100wpm but have to stop from pain within a minute or less. Sorry I’m ranting.

Once I found things could be EDS after seeing the red SNPs on livewello I got referred to a rheumatologist who quickly diagnosed me with a fairly severe case of EDS 3. Feel free to message me and ask anything, I’m here to help if wanted.


#3

Hi, I have GG for this snip. I have not been diagnosed with a disorder, but I am hyperextensive in joints and have issues such as prolapsed uterus which goes along with lax ligaments. I have always wondered if I were “borderline” for a connective tissue disorder. More importantly, my sister died of a cerebral aneurysm at age 26.


#4

I am sorry about your sister. I am suspecting I have EDS, I have a dialated aortic root, orthostatic intolerance, tortuous center carotid artery and many many other symptoms. My mother has had a brain aneurism as well. My sister has POTS really bad. Not sure which EDS this would be considered.


#5

I have this but it’s a fairly common snp and doesn’t indicate someone has EDS. My son has EDS but neither his father or myself show overt signs of eds. I have mild symptoms(although nothing like my son!) so I suppose if he inherited it from one of us, it would be me.