Ehlers-Danlos Support UK
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vEDS

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.

22 Replies
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Hi Thanks for your long post. I have two testing kits for 23andme which I still haven't used yet (is there a use by date?). I really should get a move on.

Anyhow, I think that despite its name most people on this site are hEDS not vEDS, which is, as you say, a more serious and potentially life threatening issue.

I assume you are from US too? Your insurance plan should cover the cost of the full genetic testing - don't rely on the results from Ancestry or Prometheus - which may or may not be correct - you need a proper work up of your genes at a respected laboratory.

Once you get a definite yes or no, you can go from there. They should make all the necessary referrals for you to a cardiologist etc.

To look at some of your concerns:

Your biological father's early death could be vEDS related, or not, - my father died aged 47 of heart disease, despite being a fit, thin and healthy man. Men in particular do sometimes just die young.

The stretch marks do suggest EDS - I have three sets of stripes - EDS ones from when I was thin, those from when I became fat and also those from my pregnancy.

Again, I suggest inspire.com has a lot of information for USA EDSers, as it has a large number of people in the same position as yourself, either diagnosed with vEDS or worrying and waiting for it, plus it can help more with understanding any medical insurance issues, which we in the UK don't know anything about.

Finally, please please don't let statistics like 'median' age worry you. I know you know this (but often people forget): median is not average (mean) but just the middle number in a whole range of numbers, so if a group of 5 people died at ages 45, 49, 50, 78, 87 then the median age for death is 50 but the average age is 61. It doesn't mention that perhaps the 45 year old was also an alcoholic, and maybe the unfortunate 49 year old had had poor health his entire life as well.

Still not great - but it gives an idea of the difference between 'median' and 'mean', and the limits of statistics.

Also, you have to question when were those stats compiled? Who was included? given that, unless a person was lucky or very ill, they were, until recently, not likely to be even included in the recognised stats.

Unless you include all people with vEDS, this is cherry picking statistics which are bound to be incorrect. There may be any number of 70, 80 and 90 year old vEDSers who never got diagnosed; and probably never had their 'natural' deaths looked into. When old people die with multiple health issues, no autopsy is performed, so we have no way of knowing how many vEDSers lived to a good old age. When my grandmother passed, it was simply noted as 'old age' and not the TB scars in her lungs which led to pneumonia taking hold because she picked up a cold when her body was fighting off cancer at the same time.

Keep us updated!

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Thank you very much for your reply and I am sorry that my post was so long... I just wanted to give as much info as possible.

Yes my biological father could have died from a heart attack or even a heart arrythmia as I have 3 of them but his father also died at age 50 and this makes things very strange (in my op). To have both father and son both die suddenly and both just a year apart in age. My father had a younger brother who died when he was 16 though I do not know the circumstances behind his death. There was 1 brother left and he passed a few years ago from pancreas cancer or so I was told and he was in his 60s. I have sent away for my father's autopsy report but I am unsure if they will send me a copy. Every state has different laws regarding who can have one. My sister (his middle daughter) told me she tried to get it back in 2005 but they wouldn't release it to her because she was not listed as next if kin. She has his last name and I am not sure I believe her. Sometimes I think she lies to me when it comes to things she doesn't want to do. Her and her older sister do not seem as concerned as I am with knowing the reason behind these deaths. She told me they suspected heart attacks for both because they died suddenly. I know this is going to sound strange but my mother told me that my grandfather sneezed and collapsed dead and my father was found on the floor in the employee bathroom where he worked and he was dead. It doesn't sound to me like my grandfather died of w heart attack. To me it sounds as though something ruptured when he sneezed perhaps? I do know my father was a very bad alcoholic but I'm not sure if his father was as well.

I do have a cardiologist already for my heart arrythmias. I had an updated echo recently and a stress test. Both were normal except for something was off with my EF during the resting phase but was told it's okay.

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It is good you have a cardiologist already. And yes, it is quite possible that if you have it, then they died of vEDS, and I think you should have a right to see what your biological father died from if it impacts upon your health and diagnosis. I would have thought it would be on the death certificate, rather than having to order a full autopsy report?

And having said that - it still might just be quicker to pursue the genetic testing asap for yourself in case his details give you nothing.

Your mother's tale does sound suspiciously like a vEDS death. Your sisters' reactions are quite common. My brother also prefers not to know - the head in the sand approach. He thinks if you don't go looking for trouble then it won't come looking for you. I disagree, but many people do take his view.

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Hmm, I didn't think about the death certificate... I don't know how to go about trying to get one. I am from New Jersey, same state my father died in but currently live in Florida. I do not think I can get a death certificate be cause I don't have his lady name and no father listed on my birth certificate.. I will look into it though.

I am going to try and find a genetic doctor although I'm sure it will be hard to find one who takes my insurance and I heard the wait time is a year or more.

I can only pray that I do not have vEDS. I can't even begin to explain how scared I am for me and my 3 children. Had I known long ago about any of this, I probably would have chose not to have children. I know that is probably a harsh thing to say and I don't by any means regret my babies, I just.... I don't know

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In the UK at least, it is a Rheumatologist who diagnoses Eds so perhaps it would be a good idea to see one (and maybe more straight forward for your insurance?) though you must try to get one who does really know about Eds as some don't have much knowledge of it.

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A veds diagnosis is given by a specialist geneticist in the UK also.

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Maybe contact the EDS Society ehlers-danlos.com/ if you haven't already, they should be able to advise you on what to do next. I strongly agree that you have every right to know for sure, as of course do your children. I also agree with what someone else said about age/numbers. I understand why you're so worried but I've come across people with vEDS who have way outlived the 'average'. Good luck with it all, easy for me to say but try to keep as calm as you can and look after yourself well.

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...........just another thought. As it could be vEDS which is much more uncommon than hEDS - maybe a teaching hospital or professor with a strong interest in EDS might take you on for testing as a research patient?. Ask the society x

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I have Veds and reading your post highlighted the similarities in our symptoms. I am from the UK and after having a heart attack requiring four stents my cardiologist referred me to the genetics team. Try going back to your Gp and asking him to peruse your case as it is much better to know as you can make life changes to prolong life expectancy and alert your family of the possibility of them having it. Some people have it yet don’t show signs. Good luck and I was told the best thing I can do to prolong my life is to keep my pulse and blood pressure as low as I can tolerate. Your Gp could help you with this. Good luck and stay positive 💞

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How old are you? If you don't mind me asking?

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I am 57, my daughter and grandson have since been diagnosed positive 💞

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Wanted to let you all know that my kids dr has refered them to genetics and my doctor has also refered me. My kids got an appt rather quickly Feb 22nd. I on the other hand can't get in until July 9th. My doctor in the mean time is sending me to a Hemotologist/oncologist office that does genetic testing and they do have a Dr there that is studied up in genetics.. he says at least this way we get the testing part going as it can be lengthy..

I saw my cardio also but she is not well studied on vEDS and she said yeah I think maybe you do have that but just a mild case.... Whaaaat???? That's when she said she doesn't work up people for that that I would need to see w genetic Dr which I already knew. She did say that she does know people that have it are monitored with echos and my echo from this past July was perfect. She said my aorta something measured nicely which I'm guessing means normal. I found out they had some strips from my last monitor and she told me it showed a few diff things and she wanted to me to go on beta blockers daily for the SVT. I knew I had this already as my previous cardio caught it about 16 or so years ago but the SVT has never made me lightheaded. I do not think I had one of my lightheaded spells while I wore the monitor though and so I do not think it's the SVT causing it. I have been getting these spells for about 8 years now but they were so few and far between that I tried not to worry over them. This last year they have starting happening much more frequent. I know it cant be due to blood pressure change because they hit me even when I'm laying down or sitting. I am thinking about going back to the EP doctor or trying another monitor.

I wrote both my half sisters on Facebook telling them what was going on and asking them if they had anymore family history they cannot share with me. Neither called me like I asked and neither responded to my message but I know they both saw it. I am really upset about that. You would think they would maybe want to get checked themselves seeing how they have kids and the oldest even has a couple grandkids. I wish I knew how to find things on ancestry. May be there is a way to separate my mom's side from my dad's side. I don't even know where to start as all I really know is what my father's name was. Mostly all my matches are very distant cousins....

I know I'm really anxious and depressed. I slept yesterday till 3 in the afternoon and today until 2.

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Careful1 I am so happy to hear that testing is soon to underway. I do understand your depression, but knowledge is power and you're arming yourself with that power now. I'm sorry about your relatives - sounds like they're choosing denial. All you can do, as a 'decent human being' is to let them know when you get the results and let them make their decisions from there. It would be good if you'd keep posting here as I'm sure we'd all like to know your outcomes, and are rooting for you and your children.

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Good news is that as soon as your kids are done you can either relax (over them) or if positive for vEDS, you don't have to wait for yours, you'll all be diagnosed and should immediately have your circulation systems checked.

I get SVT quite frequently. You can stop it (usually) by breathing in really deeply and hold your breath for a moment. This causes your diaphragm and lungs to squeeze against your heart and knocks it back to normal rhythm. I have had episodes for my whole life, along with lots of 'skipping a beat' and it has never been of concern to my gps - they always say that if I have always had it, it won't be a problem as such. I'm not sure if I am totally happy with that as an explanation!

Re: your family history - I am only just getting to know my mother's side, which is where the hypermobility comes from. Like my brother, I have come to realise that many people simply don't want to know if they have a potentially life threatening condition. I am one of those people who like to know everything about a problem - I will read up, buy a microscope, train myself. I don't think most folk are like that!

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Totally agree. The majority of people seem to see any kind of illness as something frightening that doctors deal with, and unless a doctor tells you that you have something then you don't. I'm like you, I spend my life researching my own and my son's conditions, I want to understand completely and to practice self-help wherever possible.

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To be honest the SVT and premature beats don't bother me anymore. I got use to all that years ago but the light headed spells where I feel like I'm going to pass out is different. My cardio thinks it can possibly be the SVT but I have never gotten lightheaded with an episode of it before. I don't feel any palpations when it happens but seeing how these spells happen even when I'm laying down or sitting and last mere seconds I'm worried it could be a different arrythmia... I have had runs of NSVT on my monitors before.

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And seeing how I started getting these episodes 8 or so years ago. The heart is the only thing I can think of. It use to happen few and far between. I could go months without it happening but this past 7 or so months it's happening more often.

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Anything new or different is worth investigating, even if it just annoys your doctor. Feeling faint could be an indicator of any number of things, including a worsening of EDS, blood pressure problems, dysautonomia/POTS, diabetes etc, (all of which I have got...I like to tick ALL the boxes).

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Yes but I just feel like it's always something... I started getting a flashing light out of the corner of my left eye about a week ago that is really weird and something I have never had before and around the same time I started getting a strange pain in the left side of my neck... never felt a pain like it before and it was in only one spot and now it's spread to the base of the left side of my skull and midway up my head. Most of the times it doesn't feel like a headache just sharp pain that comes and goes all day long. Today it started and turned into I guess you could say a headache but only in that area...

I went to the eye Dr and had my eyes checked for the flashing light and they are completely healthy but she said she was concerned about it...

I feel like if I go to the Dr he is gonna think I complain to much.

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Hi Careful1,

My heart goes out to you. I and many others understand how you feel. I understand the family issue oh too well. I can only advise you to try your absolute best to concentrate on you and your children. Leave family members who have no desire to speak or understand to themselves, they lose.

The faint feeling I agree can be POTS. When you say it's even when you lie down that's exactly how I feel. My daughter and I both have the sharp plain in the head that comes and goes, for both of us this has been since puberty, hormones? As well as the flashes of light in both eyes, I've just started with that about 4 months ago and the same was said, they can't see anything wrong. I think it makes you feel worse when you don't have a definitive explanation. So many unexplained issues. It's the unknowing that's worrying.

I find everyone on this forum very informative and research all information that's shared. Sometimes we are best to investigate for ourselves as we know our bodies best.

I'm from the states as well, left in 93.

I pray you have answers soon. Biggest of HUGS xx🌄

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The hemotogist appt was pointless.. They do genetic testing but only for cancer. The Dr was upset that I was wasting her time or so it seemed anyways...

This is so frustrating. At least my kids don't have a very long wait and I pray they test negative...

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I just wanted to update my thread... My kids saw the genetic Dr on Feb 22nd and the Dr ordered an Ehlers-Danlos panel on my middle child. Depending on the outcome of her testing will determine if the other 2 will be tested. The lab is out of state and so the mobile lab they use will be coming to my home 2marro morning to draw the blood. It will then be 10 to 21 days for the results...

My genetic appt is still a ways off... July 9th though I call every few days to see if they have any cancels etc.. I will be seeing a special kind of dermatologist 2marro afternoon at the university. Hoping that perhaps he may have an idea or 2 as to what is going on with me.

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