Hello, I am 35 years old (36 next month) and have been having weird symptoms (mostly skin) since April of this passed year. Someone on another forum mentioned vEDS to me a months ago based on the sudden deaths of my biological father and his father a year apart in age at 50 and 51 but I didn't really look into it because I thought one had to be able to move parts of their bodies into certain positions in order to have any form of EDS...
I went to my dermatologist back in July because things kept popping up on my skin and it was starting to disturb me. He told me I had spider angionomas, Palmer erythmea in both palms (appeared suddenly in mid June), thread veins and pointed out some varicose veins and mentioned me having Livedo Reticularis which I was already diagnosed with that years ago during a skin check by another doctor in that office. I also pointed out that my skin has become transparent in some places (you can literally see through it) and that my veins were starting to show through my skin all over my body when they were never visible before. He advised me to go back to my GP as some of these skin issues are seen in people with end stage liver disease. He told me basically all my skin symptoms were vascular is nature, well all accept the funky stretch marks that have been popping up on my shoulder area and top of my breast area, they are bigger and wider then the ones on my stomach that I got from all 3 of my children. Some people think they are scars. I don't know how one gets stretch marks without gaining any weight??? My GP refered me to a liver specialist and all testing short of liver biopsy showed an enlarged and somewhat fatty but normal liver. I go back to my GP as skin issues are getting worse and he just says he doesn't know what's going on. I had also been suffering light headed spells and weird headaches back in March and so I think he thinks I'm crazy. I will also add at the same visit that I was diagnosed with that Livedo Reticularis years ago I also questioned the dermatologist about these small red spots I was getting on my skin esp everytime my blood pressure was taken and these purple lines under my nails everytime I got my nails done with fake tips. He told me they were petechia and splinter hemorages.. When I think about all this I start to realize I have a lot of vascular issues and it's disturbing. I remember while in labor with my second child I busted the blood vessels in my eyes. I ended up with an emergency c section and when I asked the doctor why that happened to my eyes, he said he had never had that happen with a patient of his before.
So I look up vEDS to see if I meet any of the criteria and was surprised by some of the things I read. I then remembered I had my DNA tested through Ancestry and that I had uploaded my raw DNA to Prometheus. I jump on my account and look under Ehlers-Danlos condition and it tells me I have 6 SNPs associated with Ehlers. I click it and the list gives me only 5 but they were all green (good). A couple of nights ago, my half sister who got me into the whole DNA testing calls me and tells me of another site like Prometheus and how she uploaded her info with them. When I get off with her, I find it and do the same. It's called Geonmapp. I almost had a heart attack when I clicked the higher then normal probability for disease section and saw the 5th one down was labeled Ehlers-Danlos type IV. I go in and it tells me that I carry the SNP RS587779549 A;A pathogenic, upon further reading I see at the bottom where it says median life span of someone that carries this SNP is 50 years. Now my mind is spinning as I think of my sperm donor and I start to feel sick.
I email Prometheus and ask them why it shows I carry 6 SNPs but only 5 were listed and explain my results from the other site. I got a very quick response (A+ for them) and he explains that the 6th one was hidden due to the fact that it's untrustworthy when the results are from Ancestry. He tells me how to unhide it so that I can view it but that they believe all 6 SNPs I carry are normal as mistakes are common for that SNP with Ancestry and so the 6th SNP should be ignored. When I clicked the hidden SNP it did say at the bottom that the pathogenic one it says I carry is almost certainly a miscall if the results are from Ancestry. This should make me feel better BUTT it doesn't.
Is anyone here familiar with vEDS? I plan on trying to see if my insurance will cover me to see a genetic doctor though I doubt they will cover genetic testing and I likely can't afford it out of pocket.