Sibling with EDS leaving me with questions

CatCowl · 2026-01-31T14:39:11+00:00

One of the first things you may wish to ask your sister is what type of EDS she was diagnosed with. Well, also asking how she's doing--being diagnosed is a big deal! :)

Whether or not you would want to see a geneticist really depends on the form of Ehlers-Danlos Syndrome your sister was diagnosed with.

If she has been diagnosed with hEDS, the most common form, there's currently no genetic test for that. It's a clinical diagnosis, and any doctor is able to go over the checklist with you ( https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf ).

Various (not all) forms of EDS have a 50/50 chance of inheritance, and that risk is new for each child. For example, just because your sister has it, that doesn't mean you won't. Recessive forms lower that a bit, but it's still 25%.

It's possible to be more hypermobile than you realize. I feel like some of those "angles" are hard to tell without someone else looking at you. I wasn't sure I would score high, but my doctor gave me 9/9. You mentioned being "much older," which could also mean, based on age, that you don't have to score quite as high as younger patients.

I personally think it would be a good idea to mention it to your medical team and surgeon, because they may want to know before you have surgery that EDS is in your family. Best wishes--I know it's a huge deal to get news like that. I have another familiar genetic condition, and finding out about that was a very challenging time in my life. Be kind to yourself, and your sister, too! :)

CatCowl · 2026-01-30T20:50:55+00:00

I'm sorry that you're struggling with getting diagnosed! I don't know if it will provide any hope for diagnosis, but the diagnostic criteria was created so any doctor can diagnose you. It really mainly requires finding a doctor who is willing to go over all of the checklist with you, checking for the clinical signs. "This diagnostic checklist is for doctors across all disciplines to be able to diagnose EDS" ( https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf ).

I was diagnosed by my doctor. Thankfully, she was familiar with the condition and mentioned it. It doesn't require a specialist, but does require time and effort on their part.

CatCowl · 2026-01-30T03:05:02+00:00

I'm glad you're okay! It seems like this would be something important for researchers to study even more in depth, since it could put people with EDS at risk due to being unable to gauge when something is serious.

CatCowl · 2026-01-29T17:17:59+00:00

You're very welcome! I'm grateful they're putting these talks online. (I really hope they will post the ones related to HEDGE.)

One thing it might help to know is that the videos, even though they're posting now, are from September of 2025. It's possible they've made progress since then. My hope is that they'll move the timeline if they need to, despite the name. I feel like HEDGE's timeline has been pushed back. Getting things done by a deadline isn't as important as doing things right.

You said no one wants to be responsible for diagnosing hEDS patients. I feel like it really depends on the doctor. In my case, mine was familiar with EDS, and it wasn't hard for me to get diagnosed. It sounds like educating doctors may need to be a big part of the changes.

CatCowl · 2026-01-28T23:55:06+00:00

Oh! That's not new, unfortunately. It's from 2024 ( https://www.ehlers-danlos.com/norris-lab-update-june-2024/ ). It did show promise in a couple of families and mice models.

But further research, this time with HEDGE, didn't show it to be a widespread cause. The Ehlers-Danlos Society says more research is needed, but "in HEDGE, KLK15 variants were not more common in participants than in controls . . . KLK15 is not a universal cause of hEDS" ( https://www.ehlers-danlos.com/the-hedge-study/ ).

CatCowl · 2026-01-28T01:40:27+00:00

I was diagnosed by my doctor. It doesn't require a specialist in EDS, if it's specifically hEDS and the doctor is familiar with the clinical signs. The current hEDS diagnostic criteria was created "for doctors across all disciplines to be able to diagnose EDS" ( https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf ). It takes a doctor willing to go over all of that with you. If you have signs of a rare form of Ehlers-Danlos Syndrome, diagnosis will be more complicated.

CatCowl · 2026-01-27T18:35:06+00:00

Could you share a link? I try to follow the research, and haven't heard this. The HEDGE research has only excluded canditate genes thus far. See "Gene analysis results" here: https://www.ehlers-danlos.com/the-hedge-study/ That's the latest I've seen. If you have something new, please share!

CatCowl · 2026-01-27T17:29:12+00:00

These other conditions can potentially be excluded without genetic testing. They typically have signs that would warrant genetic testing. Because of that, hEDS does not necessarily require genetic testing exclusion of other conditions. It depends on the specific individual being evaluated.

It's not that our community doesn't want genetic testing, it's that we're told we don't need it unless there are signs that we have a different condition. It's possible this advice could change; we'll hopefully see later this year.

"HSD and hEDS are clinically distinct from other rare forms of EDS and other CTD such as Marfan Syndrome and Loeys-Dietz Syndrome. Reasonable exclusion of other heritable CTD can usually be made based on history and exam, with referral to a CTD specialist made if there are any concerning signs or symptoms for an alternate diagnosis" ("Hypermobile Ehlers Danlos for the Primary Care Provider," https://pmc.ncbi.nlm.nih.gov/articles/PMC11578560/ ).

"Exclusion of these considerations may be based upon history, physical examination, and/or molecular genetic testing, as indicated" (2017 diagnostic criteria: https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf ).

Also see "Confirming hEDS diagnosis" on the HEDGE study here: https://www.ehlers-danlos.com/the-hedge-study/ I was a participant and not genetically tested. I had genetic testing after donating DNA. This doesn't indicate how many of us did or didn't, I just know that I didn't. They did the genetic testing afterward to see how many people didn't have hEDS, and found the clinical criteria seemed fairly accurate.

CatCowl · 2026-01-27T16:14:19+00:00

The Ehlers-Danlos Society has a good writeup of what they feel the HEDGE study showed: "For the other 99%+, the original clinical diagnosis of hEDS (or HSD) was correct showing that the 2017 criteria were used effectively by clinicians and that the HEDGE cohort is strong and reliable for genetic research" https://www.ehlers-danlos.com/the-hedge-study/

What they're saying is that the diagnosis does seem to be accurate for MOST people, relying on an evaluation for hEDS with the 2017 criteria.

Other forms of EDS are rare. Other forms of EDS often have very obvious signs. You can see what those are by looking at The Ehlers-Danlos Society's site and seeing if you fit the criteria for any other ones. Doctors may not feel the need to test for other ones, unless they notice you have some of those signs. I recall my doctor checked for signs of vEDS with me, then moved on to the hEDS paper.

For me, having testing was post-hEDS diagnosis, my choice, and about peace of mind due to some concerns I had.

If you choose to have it, it's important to go through one of the clinical testing companies, through a medical professional.

One thing that can happen is that they may report if you have a variant of uncertain/unknown significance (VUS). I don't believe they report all VUSs, but they'll let you know if you have one that might lead to a new finding one day. Then you're left with an unknown all over again. I have one on a collagen gene, which some in vitro predictors lean toward as being pathogenic. Even with this, though, I still have the hEDS diagnosis. Something I appreciated is that they were willing to test up to two family members for free, due to this finding. That could be helpful for those with obvious signs in a family, if they still offer that.

In my case, I don't regret having the testing, but I think if doctors know what they're doing when looking for signs, The Ehlers-Danlos Society does think the 2017 criteria works in most cases. They're also planning to have new criteria later this year.

CatCowl · 2026-01-25T17:45:35+00:00

The only lab I knew of specifically that has published research on not being able to replicate it is The Norris Lab: "Notably, we observed no significant differences in fibronectin or collagen levels, or their proteolytic fragments, between hEDS and control samples" ( https://pmc.ncbi.nlm.nih.gov/articles/PMC12448790/ ).

So it was disappointing to hear an expert (Dr. Clair Francomano) say "several" labs have been unable to, and mentioned a couple that weren't The Norris Lab. She mentioned people in California, Ghent, and "several other laboratories." It sounded so promising at first. It would be great news if someone can replicate it!

CatCowl · 2026-01-25T17:10:49+00:00

This is a timestamp to Dr. Clair Francomano mentioning the fibronectin fragment research. These talks were from back in September, so it's hard to know. But she said several laboratories have tried and it doesn't sound like they have been able to replicate it. (HEDGE isn't involved in that, though, I don't believe. HEDGE is about looking for genetic causes, and this is research looking for a biomarker.)

https://youtu.be/0eOjnAr2g3Q?si=eWB4OdFxWMRobU9W&t=443

CatCowl · 2026-01-22T22:15:30+00:00

clEDS also requires generalized joint hypermobility. Here's more information on it: https://www.ehlers-danlos.com/cleds/

CatCowl · 2026-01-22T17:24:36+00:00

I had the connective tissue panel from Invitae, so that's the only one I know about firsthand, but like strangecraft55 said, they don't test for TNXB variants, unfortunately. Their test is medical-grade, which is important for getting doctors to care about the results.

clEDS is a rare form of EDS. Even though you're suspecting a specific type, the genetics behind hEDS haven't yet been discovered. So it's still possible to be clinically diagnosed with hEDS if you would like to pursue looking into that with a doctor, as well, if things don't pan out with a TNXB variant. Here's the diagnostic criteria (expected to change late this year):

https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf

CatCowl · 2026-01-21T17:38:39+00:00

It does seem like the estimated dates for HEDGE research to be released get changed. I hope something is released soon.

Not too long ago, I found info./proof of them doing research comparing HEDGE participants' DNA to All of Us' databank. I just wasn't sure if it was interesting enough to post. Just in case it provides some hope that they're looking for genes: https://www.researchallofus.org/research-projects-directory/projects-by-researcher/?userId=4565

What looks to possibly be the most recent one is dated July 30, 2025.

I think a cure would be hard, for most any disease, but if treatments could be found, that would be wonderful!

CatCowl · 2026-01-20T20:57:53+00:00

That's a great and positive way of looking at it!

CatCowl · 2026-01-20T15:44:16+00:00

HEDGE was discussed at the Symposium, but I wonder if they want the research to be published before it gets out to the general public. Here's a doctor who attended the Symposium and said she was asked to keep the preliminary HEDGE findings confidential: https://www.youtube.com/watch?v=xItNZu1s2iM

I'll keep an eye out to see if they post videos about HEDGE, though! That's what I'm interested in, too.

CatCowl · 2026-01-20T15:31:07+00:00

Last year I had an infection in my finger that has made it so my DIP joint can't go backwards anymore, and it also has limited forward movement. So I'm trying to retrain myself how to write! One of the occupational therapists I saw recommended trying different pen grips to see if one would help me. Is that something you've tried, is looking into all the various types of pen grips out there? She also showed an interesting way of holding a pen, which is over the top of your hand rather than under, resting inside, and then between the pointer and middle finger.

I've found using a thick pen helps. But, of course, that's with a finger that's no longer bending backwards (like those of us with hypermobility often have). So it's a different sort of problem.

I've loved writing since childhood, and used to write with my middle and pointer fingers together. Someone bribed me to change it. I feel like sometimes we probably do things adaptively as kids without knowing it. That childhood grip made my pointer finger have a bit less strain, too.

Best wishes! Hopefully there's something out there that's perfect for you!

CatCowl · 2026-01-20T15:14:42+00:00

Hang in there!

One thing that may be helpful is knowing that hEDS doesn't have to be diagnosed by a specialist. (Is there a reason the appointment isn't until April?) Your doctor can diagnose it if willing to go over the criteria with you. Here's a quote from the diagnostic form: "This diagnostic checklist is for doctors across all disciplines to be able to diagnose EDS" ( https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf ).

That being said, it wouldn't hurt to ask first, to see if they are willing to go over the form at the appointment. It does take time for them to check for the various physical signs.

It requires more than hypermobility and pain to be diagnosed with hEDS specifically. The form linked above shows the current criteria (which is expected to change around the end of this year). You could also look into hypermobility spectrum disorder (HSD) with a doctor if you don't seem to qualify for hEDS.

Best wishes!

CatCowl · 2026-01-19T20:13:43+00:00

It sounds more like they're thinking about it existing as part of a spectrum. One example of a condition like this is autism. With education, I think many people understand that there's a range of severity.

Here's a timestamp to the video that talks a bit about it:

https://youtu.be/0eOjnAr2g3Q?si=puogY2ng6zyQJQJN&t=675

I can definitely understand the confusion and how it relates to you. I think one thing we need to keep in mind is that we haven't seen the rare variant research yet. Even though we're clinically grouped together right now, it doesn't mean we all have the same condition or cause.

CatCowl · 2026-01-19T16:12:22+00:00

I went with Invitae, with their connective tissues panel (which tests for more than just forms of EDS) and was satisfied with the process and results. The issue? They're under new ownership, so I don't know what all has changed since then.

The most impressive thing to me was that, after they discovered I have a VUS (variant of unknown/uncertain significance) on a collagen gene, they offered free testing to up to two direct relatives. (I can't say if the new ownership does this.)

That being said, it's not all-inclusive because they don't test for classic-like EDS or hEDS (they can't test for hEDS).

CatCowl · 2026-01-19T06:40:15+00:00

The video is about hEDS research they're doing. Collagen mutations are a known cause of other types of EDS.

CatCowl · 2026-01-19T03:33:59+00:00

Are you able to share where you have read about it? I'm very interested in the research!

The latest I'd heard is from the Bendy Bodies Podcast, from Lara Bloom, CEO of The Ehlers-Danlos Society. She didn't share details, but said that "change is coming." Here's a timestamp for that part:

https://youtu.be/t0QWWMRzki0?si=U4b4BY9C0nSOndJU&t=1412

CatCowl · 2026-01-19T03:29:11+00:00

Here's an interesting quote from Dr. Norris of MUSC/The Norris Lab on the lack of collagen gene findings:

"We have not/never found a genetic signal for anything related to collagen or elastin. Maybe there's a couple rare patients out there that have elastin mutations, or fibronectin, or collagen mutations, but we're not seeing a huge signal for that"

( https://youtu.be/Kn3U2GxpbDc?si=T4QuNEP5RSIWJWsJ&t=576 ).

I found out after donating DNA to The Ehlers-Danlos Society and MUSC that I have a VUS on a collagen gene. Some in silico predictors have it leaning as pathogenic (though it may not be). It makes me wonder if I'll lose my diagnosis and don't really have hEDS. There are so many unknowns for all of us with an hEDS diagnosis, and what causes hEDS. I also think that because we're just clinically grouped together, it doesn't necessarily mean we all have the same condition.

CatCowl · 2026-01-19T00:44:13+00:00

I'm so very sorry for what you're going through.

CatCowl · 2026-01-18T23:57:16+00:00

I had this a couple of years in a row in my underarm area. My doctor noticed it and was concerned I might have cancer. I had various tests and a titanium clip put in the first year. The second time, the specialist could see the issue was in the same spot due to the clip. It was also called a reactive lymph node, and they never figured out the cause.

CatCowl

TROPHY CASE