How to Get Tested for VEDS (Vascular Ehlers-Danlos Syndrome)

[@mandybarnett3647]

Thank you! You are doing something I have wanted to do myself! But..no diagnoses til age 50…I have not yet got a team..working on it,.I watch you every day! Please keep up the good work!

[@Christinesobsevations]

Thank you Katie ❤ I’ve been struggling so hard and no answers , I appreciate your channel and sharing your story

[@Wheeled_Fighter]

I got in with a cardiologist who knows the 2 Rheumatologists around the valley that treat EDS and can order a vEDS test. Took me 6 weeks for results. Insurance covered my test. It was negative. INVITAE was the test ordered from my doctor.

[@sarahcloudswhite6638]

I don’t understand why doctors never connect the (very obvious) dots. Since my childhood i went to doctors with 1000 health problems and they never took it seriously. It was “all in my head”. And they never did a single test before bringing up such an incredibly big claim and neglect! 😔 just a freaking simple geneticist test which will be life changing 🤦🏼‍♀️

[@SweetiePieTweety]

The gate keeper dynamic on access to these genetic test is insanity it’s a power trip like no other

[@TranslucentOne]

It really would be amazing to have them be more accessible. And to have enough genetic counselors and geneticists to see everyone who wants to be evaluated on a reasonable schedule!

[@GeneoftheWorld]

I've been following your harrowing stories the past few days going thru many of your old videos. OMG, its crazy your life experiences. I've got some of my own similar issues, minus the joint hypermobility, without writing a book, just gonna say on much milder level. However you have convinced me the need to 1). use youtube as the correct medium to engage an audience. 2). Open up about things and not hide behind -- something I think maybe females do easier, or it takes a certain personality. Idk. Regardless, you have convinced me. Its so amazing what you are communicating, sharing with these videos.

[@beachesandmore]

I'm so glad you were finally able to get the help you needed. I'm still trying to get answers on my journey. Hopefully someone will pay attention. Ty for sharing. ❤

[@mandybarnett3647]

Thank you for talking about Veds..I have been thrilled with your helpful tips and your courageous journey is a great encouragement. Last March I lost my voice and use of my right arm and hand. I would love a talk!

[@blessd4x]

Thank you. Working on getting tested soon. Took some searching but the mayo clinic in Jacksonville FL has a dr that specializes in EDS . Thank you for your video

[@TranslucentOne]

I think you might be referring to Dr Atwal -last I heard he is doing his own private practice now. But he is definitely a person to see to get tested for EDS and I believe that’s one of his primary focuses. Best wishes to you for your testing!

[@allison7697]

I know the gene is the col3a1- what is the specific rs id of the gene?

[@TranslucentOne]

I’m not sure the answer to this question. I’m sorry!

[@Theartist86ix]

Hi Katie. I’m the same as you, no family history. I show symptoms however. While my bruising is not what I would consider “easy”, I do have visible chest veins, stretchy skin, clicking joints, etc. I have researched VEDS for about a year and just told my parents about my concerns and I am trying to get testing through Invitae. I’m constantly anxious and just typing to hopefully get some comfort :)

[@TranslucentOne]

Hey! I hope you are able to go ahead with that testing soon and put your mind at ease. Best wishes to you

[@d.russtheartist8578]

Hi Katie! I hope this comment finds you well. I am the same person replying from my other account because I am currently at work :p I went through with the buccal swab testing from Invitae and received good news: my test came back negative on the connective tissue panel. 92 genes tested. No changes or mutations found in any. Your videos were a huge support to me during this waiting period and I plan to continue supporting the podcast as I do have friends that deal with connective tissue disorders. I do have one question however. On my testing I received one notification of a limitation on the CO13A1 gene that read this (I am just copy pasting the limitation section, lol) COL3A1: Deletion/duplication analysis is not offered for exons 23-24. ELN: Sequencing analysis for exons 18 includes only cds +/- 0 bp. UPF3B: Deletion/ duplication analysis is not offered for exons 2-3. COL11A2: Deletion/duplication analysis is not offered for exon 36. COL11A1: Deletion/duplication analysis is not offered for exons 16-17 and sequencing analysis is not offered for exon 57. COL9A3: Deletion/duplication analysis is not offered for exon 12. ABCC6: Deletion/duplication and sequencing analysis is not offered for exons 1-9. I am waiting on the follow up call with my clinician for him to clarify the testing results and explain them to me in simple terms. In my humble opinion though you are a lot more educated and intelligent than myself in general and given your history of receiving your own testing I was wondering if you could help interpret what these limitations are for me? If not, no worries, and I will wait on the follow up call, but my first thought was to ask you given your expertise in this condition. Thanks a bunch!@@TranslucentOne

[@TranslucentOne]

Hey there!! I’m so glad they didn’t find any mutations on your report and that you found the videos helpful while you waited! ❤️ I really appreciate the kind note. I’m not positive, but to me these look like limitations of the testing process itself. I hope the doctor can provide more info! What a relief though for you on the testing results. So happy for you!

[@leenaal-hijazin850]

This was very helpful thank you!! Currently have EDS diagnosis and I also don’t “meet the criteria” for a mobility genetics dr, despite an abnormal echo 😅 so thank you for the other reliable options :-)

[@RyanVillian]

Hi Katie, thanks for the video. I stumbled upon your carotid artery dissection video a year and a half ago and ordered a genetic test. I did so because I had been having neck pain and strange symptoms. I do have somewhat visible veins on my chest as well as stretchier than average skin (as compared to friends & family). My results came back stating that I do have a genetic variant c.2498A>G (p.Lys833Arg), which has been reviewed 8 times on clinvar and still remains a variant of uncertain significance. I’ll admit, I do have suffer health anxiety that’s developed over the last couple of years (prior to watching your video) and it is troublesome not being sure whether or not the variant will have any negative effect on my type III collagen. I am 28 years old and I’ve not had any major events up to this point. Do you think it’s best for me to lay my worries to rest or do you have any advice for those with “uncertain significance” results? Your time and care is much appreciated!

[@TranslucentOne]

Hi Ryan! It might not hurt to see a geneticist. The VUS’s may get updated from time to time as more people pop up with them and more research is done, but there’s really no one better to ask this question to than a geneticist familiar with VEDS and related conditions that can guide you. Sounds like you’re doing your homework and keeping an eye on it already. Wishing you the best and sorry I don’t have an easier answer!

[@TranslucentOne]

Ps. The health anxiety is so real. I feel you and I’m sorry you are going through this!

[@RyanVillian]

Thanks a lot for your response. I’ll definitely be getting in touch with a geneticist. I hope all is well with you. Thanks for all you do for the VEDS community!

[@rebeccaschooley8012]

Hello, i have been diagnosed with EDS in the past but I'm worried i have Veds. i had to have open heart surgery last year and I'm having another heart operation this year (Ablation) i asked to be tested for Veds and they said you cannot genetically test for EDS at all. so instead they are testing me for Marfans. if they cant/wont genetically test for Veds and my doctor keeps brushing me off how do i confirm a diagnoses

[@TranslucentOne]

I would reach out to thevedsmovement.org/ask and see if they can help you find someone knowledgeable in your region to see. Whoever you are seeing is obviously misinformed about the ability to test for EDS. Every type of EDS except the hypermobile type has a test available. I will add that if the testing company does a Marfan *panel* it’s possible that VEDS might be included but I’m not positive.

[@dawnrogers8407]

Hi Katie! You may not remember me, but I was at the Washington DC. Conference in 2017 (I think). Anyway just wanted to say long time no see and hope all is well!

[@TranslucentOne]

Hey Dawn! I didn’t go to any conference in 2017 I don’t think. That was the year I was diagnosed! I was in DC in 2019 two years later. Not sure if you were there then maybe? In any case, hope all is well with you too!! 🤗

[@dawnrogers8407]

@@TranslucentOne maybe it was 2019, that's too far back lol! But, I remember meeting you! :)

[@michiganmilkyway5130]

Thank you so much for this information! I’m doing it right now! I have been told I have hEDS-but recently developed new vascular problems and seem to hit walls with all my questions. I live in MI and I can’t seem to get into a geneticist….Im willing to travel if anyone has some good eds geneticist recommendations

[@TranslucentOne]

Northwestern hospital in Chicago has a geneticist named Lisa Wilsbacher, who is familiar with VEDS. I’m sorry you are hitting walls! I hope you can find an answer soon and that your vascular issues stabilize. 🤞🏼

[@michiganmilkyway5130]

@@TranslucentOne thanks so much! I got some good news today! I found a geneticist and hematologist who are willing to see me to rule out veds. They said the genetic testing u suggested is legit-and will work for them also. They said they do not see hEDS patients like me usually, but since I have some new vascular symptoms they’d be happy to see me and hopefully rule out veds and other more rare EDS types since my main complaint is muscle contractures in my psoas muscles

[@TranslucentOne]

Yay I’m so glad you are getting in to see someone and get it ruled out. Fingers crossed for the answers you need!

[@michiganmilkyway5130]

Would you have a moment to chat sometime? I’d really like to pick your brain now that I have my results back. I’m talking weekly with a genetic counselor-but there are so many similarities here I think it may help? I don’t see them in person for another 3 weeks and they’re actually letting me help with the research

[@TranslucentOne]

Hi! I don’t know if I’d be the right person to chat with, but find the group VEDS Zebras on Facebook- there are a lot of people in that group and that will help you start connecting with others. I also know that the help and resource center at the VEDS movement is staffed by an amazing nurse, Jan Lynch, who can help too!

[@Classyferret]

I had to wait 2 year to get tested for collagen mutation as my case wasn't judged urgent. Turn out I do not have Veds or any other type of EDS for that matter but a partial mutation for Osteogenesis imperfecta which in my case cases very fragile thin and elastic skin and painful joint and might explain why a lot of people in my family have chronic joint pain as well as multiple broken bones from minor trauma.

[@TranslucentOne]

I’m so sorry you had to wait 2 years!! That’s absurd. I’m so glad you got an answer. ❤️

[@mungbean345]

How interesting; I hadn't heard of that diagnosis before. I'm really glad that you finally got an answer, both for yourself, and maybe one that will help your family, too.

[@mariannefung7993]

Priceless information!!!! Thank you Katie.

[@TranslucentOne]

Glad it was helpful! Thank you ❤️

[@jrose4209]

Thank you for making this video

[@californiascrubjay]

Hi Katie! I have a lot of these symptoms (scoliosis, semi-flexible joints, POTS, visible veins) but not bruising or stretchy skin, but my main problem in my day-to-day life is the dizziness and POTs which started 2 years ago when I turned 23, almost out of the blue along with chest pain that lasted a few months and then went away. Cardiac workups negative. My question is, do you think it's possible to have lived without fatigue/POTS/chest pain my entire life (I've never had dislocations, ruptures, weird bruises or any other problems) and then have it appear suddenly, and the cause of it still be genetic? It seems like most people with EDS struggled their whole lives with it, which makes me think my problems probably aren't genetic and could have been triggered by a virus or something. Any input is appreciated and thanks for the information :)

[@TranslucentOne]

Hi! That’s such a good question and I’m not sure the answer. One thing that comes to mind with the fatigue/POTS is that there are researchers looking into these symptoms starting in people after COVID, so that reminds me of your virus question. I don’t know a lot of people with VEDS who have had these symptoms come on suddenly, other than sudden catastrophic vascular and organ ruptures and dissections. Or fatigue happening after events like these. It’s a good question. I’m sorry I can’t be more help! Always worth seeing genetics in my opinion to rule it out if there’s concern.

[@MrHaywee22]

Thank you so much for sharing!

[@schmalice666]

Ive been considering eds on and off for a year after being diagnosed with autism but it hadnt occurred to me it could be veds until i found out like half of the cases are de novo mutations 🤯 im translucent too, nurses love sticking me bc its easy but I always blow out w IVs, sometimes shots but it depends. Hypermobile small joints esp, veiny hands that look like my 60 y/o moms and pop like crazy if my BP goes up at all, spider veins, congenital hip dislocation, all of it tbh i just havent had any episodes worth exploring. My main concern is this weird neck pain ive been getting more and more for weeks, months? now. It doesnt feel like the general muscle and joint pain in my neck, ya know? Ive also had a lot of skin biopsies done for skin cancer that are always benign buuuuut 'different' like not a single one has come back just normal 🤷‍♀️ and the derm could never tell me what that meant lol am i connecting dots that dont need to be ? Sorry for this being so much lol

[@TranslucentOne]

I’m so sorry you are going through this! That uncertainty is a tough place to be. I had sudden onset neck pain that ended up being a carotid artery dissection. But the pain would come on very suddenly, like a ripping or tearing pain. If you are at all worried about it potentially being VEDS, why not get it ruled out? For the ease of mind. ❤️

[@lilypad8922]

I have ALL the same characteristics as you, but because I'm tall (5'9) the geneticist said I dont need the VEDS test and instead just diagnosed me with hypermobile EDS. Im not sure what to think. 😕

[@TranslucentOne]

If I were in your shoes and thought I had this I would probably seek a second opinion or order the test myself off of a site like color or invitae

[@lilypad8922]

@@TranslucentOne Do you know if the site Prometheus tests for VEDS? I was wondering if this might be a cheaper option for me. I got my 23 and me test done, and was hoping I could somehow find out through there?

[@TranslucentOne]

I don’t think the 23andme data is good for COL3A1. I think in the past they had a disclaimer on their website about a lot of false positives on that gene? Don’t remember for sure, but I know it isn’t used for diagnostic testing. You could try to go through fightveds.org?

[@hannahhopefulsharky]

Im 38 i have my rheumatology appointment coming up. Fingers crossed i can finally get real answers. I hope i can get the genetic testing. My life has been steroid dependent for over 20 years! Prob wrong medication too

[@TranslucentOne]

Fingers crossed for you!

[@Sam-ge1vf]

my cardiologist would refer me for vEDS testing because my echo/ekg is normal. It is my understanding though that just bc they are normal it doesn't rule out all forms of vEDS?

[@TranslucentOne]

That’s correct. From my understand, as someone who’s not a doctor, an ekg and an echo cannot rule out VEDS.

[@mungbean345]

Thank you!!!!!!!

[@Christinesobsevations]

I’ve got the exact same pain you’re talking about and so far all of my neck scans are normal it’s been destroying my life . I can’t live like this anymore 😢 no answers yet .

[@TranslucentOne]

I’m so sorry you’re going through that! I hope they find an answer soon and a solution for you ❤️

[@melissafarrugia9531]

By normal do you mean no breaks fractures etc that are usually looked at, my chiropractor showed me how I have no s bend in my neck it’s almost straight and it’s something that I notices on the exray explanation of hEDs

[@lesliemaricielorupayleon1177]

In the way to do my test I have EDS and I have been suspected to have a stroke multiple times. I would like to be part of the community because I feel no one can understand. It’s traumatic and I’m depressed.

[@TranslucentOne]

I’m so sorry you are going through this. I hope you get the answers you need. ❤️ there’s a Facebook group for people suspected to have VEDS and similar conditions: m.facebook.com/groups/veds.zebra.support.group/?ref=share&mibextid=S66gvF There’s also a support group that meets regularly online at The VEDS Movement called Awaiting Diagnosis thevedsmovement.org/resources-and-answers/vascular-ehlers-danlos-syndrome-virtual-support-groups/ I hope this helps ❤️

[@MrBurningxembers]

Does everyone with veds have aorta issues?

[@TranslucentOne]

Nope, I know lots of people with VEDS who haven’t had an aortic dissection, and several who have. Complications can be in pretty much any artery in the body with VEDS.

[@whartonitec1041]

Should have explained what this test is for and what does a positive Veds test mean？ And what’s the treatment for that?

[@TranslucentOne]

Yeah, you’re probably right. This is a genetic test for a genetic condition called VEDS that causes spontaneous artery dissections and ruptures, and organ ruptures. A lot of people end up in a long delay when they try to see a geneticist to rule it out, or they can’t get in at all. So this video was meant to help with that. There is no proven treatment to prevent the artery dissections and ruptures that come with VEDS, but knowing the diagnosis and getting a care team set up can help in emergencies. Many are on beta blockers and vitamin c, which is thought to help. A lot of people also get artery scans on a regular basis to monitor for new aneurysms and dissections. The aim there is to address things that can be addressed before they become emergencies. Hope this helps!

[@shannongreenwell1278]

My Neurologist is the one who Dx me with Classical EDS OR cEDS. People shouldn’t have to go through the anxiety and grief of getting a diagnosis period! We know our bodies more than anyone, we know when something is wrong with it, we live inside our bodies these medical professionals don’t! LabCorp.,As well as Quest does it. My Neurologist’s probably familiar with vEDS, but I would have to ask him.,

[@lindasplaylist100]

Thank you so much for this video.