I have decided to do genetic testing for Ehler-Danlos Syndrome, even though I know that EDS Type 3 (Hypermobility Type) doesn’t have a genetic marker. However, when I look at the list of typical symptoms for classic EDS, I have a lot of those too, so I want to be sure I don’t have that one. I do fit EDS Hypermobility Type far better, but I want to know for sure.
So I called my rheumatologist, who had mentioned giving me a referral to a geneticist if I wanted to pursue testing. He sent a referral over to the geneticist and when I got the phone call, I find out they are the ONLY adult geneticist in the entire state of Colorado! Because of that, the wait to get in is obscene. I am on the calendar and now I’m on the wait list, just in case an opening appears.
My appointment?
August 7 of 2017!
Yes, NEXT YEAR! I have to wait 14 months to see the geneticist.
I was hoping to know for sure about the EDS thing before starting a family. However, I do officialy have the joint hypermobility syndrome (JHS) diagnosis, and according to many websites and resources online JHS and EDS-HT they are the same thing. On hypermobility.org, a website run by a UK association, they have a lot of resources for family planning. I will just have to print out these resources and take them to my OBGYN, I suppose, and really just lead my own care in this regard. This is also going to include being far more bossy than I normally am about my care, which just isn’t in line with mine or Dan’s personalities but it’ll be best for me AND my baby so I’ll just have to do it.
How do you think is the best way to go about saying “EDS-HT & JHS are essentially the same thing” to doctors that are treating me? I feel this is important for multiple doctors and something I need to be able to discuss with them prior to 14 months away from now…
Finding Life's Silver Sun 
I waited 1 1/2 years to see the same doctor; a complete waste of time! He barely acknowledged me, his assistant spent the most time with me. 1 1/2 hours, no blood work and I was essentially told it was all in my head. Fast forward to today; I have an incredible doctor who works as a partner in my health, I’m also looking at EDS (I’ve always been essentially a contortionist, lol) and also have other symptoms in the EDS group.
My doctor ordered the COL51 test but no lab does it.
I’ve found a great resource with https://ehlers-danlos.com/
Shani is great with questions and general info.
I’ve learned to self advocate for my health. This started more than 3 years ago and I’ve weeded through many doctors and finally found some good ones 😊
Best to you
Cindy
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You could start your own gene testing at least at http://www.genedx.com/test-catalog/disorders/ehlers-danlos-syndrome/ or check out https://www.genetests.org/disorders/?disid=3263 or https://www.genetests.org/genes/?gene=TNXB A few are in the USA. EDS-HT is not testable in itself but can overlap with EDS Tenascin X deficient type (very similar minus the problem with poor and weak scarring) the gene test for that is TNXB. Your family doctor should be able to walk you through it easily. I am a Family doc and it is one of the things we help our patients with here. And/or there are genetic docs and EDS specialists you can skype. August 2017 is absurd and unfair!! Good luck!
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Do you know if insurance still works for these?
Okay, I typed that above question before I clicked the links…
Would you recommend I just print out these websites and take them to my doctor? I’m pretty good with medical stuff but these are definitely above my head!
I have no idea what my family doctor thinks about EDS and JHS. My rheumatologist is the doctor that diagnosed me with JHS and is sending me to the geneticist; I have an appointment with my rheum at the beginning of this August. Should I maybe have my rheum help me with these or at least send something to my primary? I’m just worried because I’m starting to lose a lot of my flexibility so it’s not as obvious that I have JHS as it used to be and so I don’t want her thinking I’m being a hypochondriac and deciding not to run these tests and forcing me to wait forever for them.
Thank you so much for taking the time to help me figure this out! I had no idea there was any other way to go about doing this!!!!
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I am so sorry not to have answered. I came upon your blog in June, but then didn’t see an email showing a linked response until tonight. I am jumping in late & likely out of synch w/ what is now being discussed. Yet, better to be awkward, than unkind.Traditional genetic testing through a geneticist specialist is often covered,though, sometimes you have to get preauthorization from your insurance. Which an insurance plan covers genetic testing, & under what circumstances, –sometimes can be very difficult to ferret out.To discover if genetic testing is paid for, you may have to buckle down for that emotionally punishing phone call to your insurance and ask.
Ugh, dreadful. Your insurance will likely be non-commital & tell you “It depends if your provider gives us reasons/ codes/ justification as to why you would need such testing”
“Wow,” you might say to the floor, “That’s an hour of delight I’ll never get back! Almost as much fun as explaining Hypermobility to friends!”
Hang on. Sometimes insurance can be coaxed to reveal some lonely nugget or data.
The trick is to ask ” IF my provider forwards ALL the needed documentation AND if it meets your requirements AND all my providers express why it is medically necessary…” [Pause, breathe] Do you EVER, when the moon is bright, & angels sing–do you cover genetic testing in Ehler- Danlos?”
Whilst they deliberate your fate, you can reflect on how empowering it is to pay so much for health insurance paycheck for health care but have to hope against hope when you might be able to
please USE your coverage for your health?
This–and the long wait, lead some to shy away from delayed testing though this is still the best way to go Some get their raw DNA from a heritage site like 23andMe or Ancestry DNA then pull that data across medical sites like interpretome or Promeathese etc. Livewello is another, more, friendly site where you can look for the specific SNP’s one may be ruling in or out. There is no guarantee that such community shared portfolios are always correct. While Livewello does offer some isolated research info, it is in the power of individual sharing which makes livewello handy.
Some examples of templates produced: These templates work to look through your DNA (first purchased thru a heritage site like 23andme, Ancestory, etc)
Then you pull up filters like these:
Ehlers Danlos Syndrome COL1A1/COL1A2 CLASSIC LIKE WITH ANEURYSM – EDS/OI OVERLAP – CARDIAC VALVULAR – ARTHROCHALASIA
TNXB GENE. Ehlers-Danlos EDS Risk.
PLOD1 EDS, Kyphoscoliotic Form; EDS Type VI; EDS VI; Ehlers-Danlos Syndrome Type VI; /
EDS Type IV- Vascular. COL3A1
CHST14 EDS MUSCULARCONTRACTURAL
EDS-RELATED SNPS REFERENCED BY SNPEDIA,
TGFB1 INFLAMMATORY MARKER (LEVELS ELEVATED IN VEDS)
COX5A POTS EDS
TNXB ADAMST2 PLOD1 COL1A1 COL1A2 COL3A1 BETHLEM MYOPATHY COL5A1 COL5A2 EDS
And last, because i am being so bossy…
If you have to worry your doctor might consider you a hypochondriac– then maybe your doctor isn’t the best person for you, nor for anyone else. You should be able to say anything in your heart or head when you speak to your provider & it should be the safest place to do so; I am sorry, if it is not.
Remember doctors are car mechanics–and often not half so skilled. Both occupations are of service & being sure you are safe, being ethical, and listening well. You pay us, not the other way around. Would you worry about mentioning the steering wheel sticks,the brakes aren’t holding anymore on the hills, and, by the way, the engine is now smoking! You wouldn’t be shy to tell these worries because you don’t want to die in a treacherous car tDon’t you deserve more than your car?
Your doctor might not have enough time at THAT visit but should always welcome your truth– what you are thinking, feeling, or trying to learn. To tell them what scares you or what you read up on in Google. If you can’t be authentic in the room with your provider; maybe they don’t deserve the dignity of your tale.
Many people with EDS are frustrated with health care who seem deliberately ignorant– fair enough. Kindness both ways as much as we can; anger just wounds your own self too. It builds the provider into an oppressor, instead of just someone who doesn’t know how to relax and learn.
And, in reverse, to understand how personal illnesses take on the character of personal crusades, a fervor of relief and then–disbelief–when no one can hear your news.
Sorry to go on so long.
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That’s really confusing, but I think I can get it figured out, thank you! And your response is not too late, actually. I had to take a small break because I was on the verge of medical burnout (it happens when juggling so many issues).
I think the main problem is with my personality type. I am extremely shy and always feel as though people are going to think of me as a hypochondriac or just automatically assume that people are thinking the worst of me. My doctor has actually never once given me the impression that she thinks that whatsoever. I just don’t actually know what she knows about EDS because I’ve never mentioned it. So many people with EDS, however, talk about having to tell their doctors what they have and I don’t want to have to explain because I barely understand it myself. I guess it’s just a very overwhelming thing for me.
I don’t actually see my PCP very often because I don’t really know what the visits with her should be like because I just see so many specialists all the time. I do understand what you’re saying though, I should just relax and trust that she is going to listen and take my concerns seriously. Thank you.
Thank you so much for taking the time to respond so thoroughly!
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Wow. 2017? So much could change by then. I have a hard enough time committing to a hair appointment 8 weeks away!
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No kidding… I’m hoping there is a cancellation.
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I’m in the process of doing the genetic testing right now. It’s also been incredibly slow and requires an ECG, family Dr assessment, eye doctor assessment. I have a fibro Dx at the moment. I’m curious about what family planning resources you found? That’s on the horizon for me as well.
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I haven’t had a chance to look at the resources, but they have a lot of academic resources listed at the end of this page: http://hypermobility.org/help-advice/pregnancy/ (you can click on the words “for family planning” in the post above as well to go to this link). My husband and I just pushed our plans out six months because he’s having anxiety with him just starting up grad school and having to deal with my current health status, so he would like to try one more semester before adding children into the mix. As such, I’ve put off researching a bit to keep my clock from ticking as loudly (since my three best girlfriends are all pregnant or just had their babies right now it’s pretty bad).
Is the eye doctor a regular eye doctor or a special one? I’m due for my regular checkup and if I can just get him to do the special exam ahead of time it might save me some time down the line…
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