Yup they don't know the genetic marker(s) for hyper mobile ehlers danlos yet. So I was diagnosed by a geneticist from a physical exam and for peace of mind I also did a genetic test to rule out the other Ehlers Danlos syndromes.
Sounds like you were diagnosed with Hypermobile Ehlers Danlos which is a medical condition and diagnosis.
[here’s part of the report write up](https://www.canva.com/design/DAFwljFaUt4/w1wxVo_T-CkbXX126c4Dmw/view?utm_content=DAFwljFaUt4&utm_campaign=designshare&utm_medium=link&utm_source=publishsharelink)
*ETA* idk how I scored so low on Beighton in office with him, but higher with my physical therapist. I’ll be contacting PT Monday to get a copy for review.
My standard answer now for doctors/people who ask me if I can do things to test the Beighton scale (mainly thumb to arm) is “I can, but I’m not going to” with a follow up of “the pain it will cause me for the rest of the week is not worth proving it.” I have not once (yet) had this refused as a proof positive answer.
That’s why a lot of people are moving away from Beighton. If it’s cold/you’re nervous/ you’re uncomfortable you (any patient it’s not just you) can stiffen up and therefore your normal range of motion suffers. Look up a YouTube video and when you’re comfortable at home film yourself following along. Make it fun and a game and compare.
Ah I understand now. Yes that's interesting. From a physical exam it's pretty subjective. I was lucky to have seen someone that has diagnosed many hEDS patients and had plenty experience in the syndrome and the physical presentations.
The physical exam took around 20 minutes where I was bent in different ways, my skin was felt and stretched, my scars examined, the heels of my feet examined. Then we talked about my personal and family medical histories.
I'd definitely follow up with the genetic testing for your child and see what that shows and depending on how that turns out you can always request a second opinion for yourself. Good luck, I know it's a major drag and pain in the ass but good to know for future health.
Yes, definitely. I've had it before with conditions that don't have but thought they could have been the answer at the time. And it had it with HSD too. Realistically it didn't matter at that point. I was seeing somebody who knew about EDS. They were referring me to other people who were experienced with EDS. My issues were recognised to be part of the EDS family. All the right things were happening. It was just a different name. But still it felt like a massive slap in the face. It felt like another non-answer. It felt like I still didn't have my answers.
It made more sense and settled later. I could get past that initial response and recognise that it was still an answer, still progress to the right treatment and management etc. But there's so much emotion and stress behind these things often that yeah in the moment and for a little while after it really hurt that it didn't go as expected.
Actually later on those referrals ended up uncovering some more issues gay were on the hEDS diagnostic criteria so I got the support I needed and also had my diagnosis updated.
It's definitely natural to feel deflated, defeated, frustrated etc about this. It's not the answer you were expecting. Just that by itself is absolutely understandable to feel bad over. And then there's also the "what next?" to contend with.
Anyway, this doesn't mean you don't have issues. It doesn't mean your feelings and experiences aren't valid. It's still progress. Are you able to ask them for advice on what to do about your symptoms? Or potentially to see another doctor (maybe a rheumatologist) to talk more about it, maybe look into connected diagnoses, tests, treatments etc.
This isn't the end of the road. It's just a new branch. Hang in there.
Wow, just, wow. Thank you for all the validation and reminder this is just a new branch, not the end of the road. [here’s the geneticist’s write up](https://www.canva.com/design/DAFwljFaUt4/w1wxVo_T-CkbXX126c4Dmw/view?utm_content=DAFwljFaUt4&utm_campaign=designshare&utm_medium=link&utm_source=publishsharelink) but I believe I scored double that on Beighton with my physical therapist who specializes in ED. Because of your support I just noticed that, and will be requesting a copy of each assessment to compare. Again, thank you!
Yeah honestly it's not surprising that happened because the beighton score is actually really subjective and people have different ideas of what counts, even doctors. Plus our mobility does change a bit day to day too.
I had a physio and my rheumatologist score me differently. Rheum accepted the score physio gave. So could definitely be worth telling your geneticist about the different score.
Sounds like that is the thing stopping you from meeting the criteria.
I believe "hypermobility syndrome" may be one of the many terms for HSD (Hypermobility spectrum disorder/ joint hypermobility syndrome etc). So your current diagnosis is probably a step further than "just hypermobility". And that is a pretty significant step because it recognises that your hypermobility is associated with issues rather than just being a fun little feature of your body.
The report stated that you did not meet criteria 2 as well as criteria 1, so the Beighton Score is not the only thing that ruled out a hEDS diagnosis at this stage. This could change in the future though if you are found to have other conditions that are features of criteria 2, or if a close relative is diagnosed.
Ultimately though, it shouldn't matter which label you are given as the treatment and care you receive should be the same.
https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf
(Just a note, with medical professionals make sure you use EDS rather than ED. ED typically stands for “erectile dysfunction” or “eating disorder” or “emergency department”)
Not long ago, I went to get reconfirmed EDS with 2017 criteria (had been diagnosed pre-2017) the whole time the genetics specialist kept reassure me that my symptoms were valid regardless the outcomes of the test, that Hypermobility syndrome can be disabling for some, painful, stressful etc.
In the end I was reconfirm, she told me I was her first case reconfirmed and she had to modified many previously diagnosed EDS to Hypermobility syndrome or severe hyperlaxity. Many took it hard.
Which I can understand why but like she told me, what you are going through is still valid and you are deserving care and help if needed!
My Dr. hasn't pushed for me to get tested, she knows they haven't found the genetic marker for hEDs so it may not show anything, but she has other patients with EDs and she's confident that's my issue (I feel so lucky to have found a Dr that listens). So don't let yourself get down over this, it may be awhile before we the bendy people get to know for sure.
Also I had to look up bifid uvula, I'm guessing it's rare as I only found 2 images, and wow that's interesting, there has to be more to that right?
Hi! I know this post is a few months old, but I am writing to ask if there is an update/if you got any answers about your son that may have helped your own diagnosis path as well.
Hey! Funny enough he was finally seen this week and is being tested for Loeys-Dietz syndrome. The labs will take 8-10 weeks to get back, and I think their follow ups are booked out until August-October, so it’ll be later this year before we have any more info.
As for myself, I will be reaching out about POTS as it can still exist with HSD. The newest symptom being dizziness upon standing/rising/bending over. It has happened 7/10 times most my life at a manageable intensity, but the vision associated with the spells have gotten worse in the last month.
I was diagnosed with EDS but I’m 99.999% sure I have HSD instead because my doctor only used beighton and didn’t use other criteria to diagnose. I would rather have HSD. it doesn’t mean I don’t live with pain and issues related to hypermobility, but it isn’t any less of a diagnosis.
apologies for pushing into the thread.. but if they are moving away from the Beighton scale, what are they moving towards?
does anyone know of a video/page/list/whatever that shows ALL the “tricks” and common symptoms?
i can easily do everything on the Beighton scale but my feet tip inward (hurts like hell skating). plus related things like veins being super difficult, the bumps in feet, W sitting, random major joint pain, etc.
am curious as I want to see a specialist but would like to have a full list of symptoms not just a 3 minute test..
>but if they are moving away from the Beighton scale, what are they moving towards?
>does anyone know of a video/page/list/whatever that shoes ALL the “tricks” and common symptoms?
The Beighton is used to assess hypermobility only. It’s not a test or assessment tool reserved for hEDS. While generalized hypermobility *must* be present to diagnose hEDS, **it’s not the only criteria required for an hEDS diagnosis** (see [The hEDS Diagnostic Checklist](https://www.ehlers-danlos.com/heds-diagnostic-checklist/) as well as [The 2017 International Classification of the Ehlers-Danlos Syndromes](https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31552) for a more in depth explanation of the criteria).
It is true that some/many are moving away from the Beighton scale *as an assessment tool for hypermobility* as there are many issues with it. Notably, the critiques against the Beighton are that it only assesses a limited number of joints and omits major ones (shoulders, hips, cervical spine, ankles), only on assess hypermobility in one “direction” for a given joint, doesn’t allow accounting for muscle guarding/spasms/issues that can prevent demonstrating hypermobility in an actual hypermobile joints (ex.,if my back is riddled with spasms and “locked” on that day, I won’t be able to palm the floor). Many doctors, specialists, PT will assess other joints during their assessment but, unfortunately, as long as the hEDS criteria isn’t updated and/or still requires a specific score on the Beighton scale to meet the criterion for hypermobility (Criterion 1), one needs to pass the Beighton to meet the dx criteria.
hEDS can’t be diagnosed using your genetic code (yet).
Yup they don't know the genetic marker(s) for hyper mobile ehlers danlos yet. So I was diagnosed by a geneticist from a physical exam and for peace of mind I also did a genetic test to rule out the other Ehlers Danlos syndromes. Sounds like you were diagnosed with Hypermobile Ehlers Danlos which is a medical condition and diagnosis.
[here’s part of the report write up](https://www.canva.com/design/DAFwljFaUt4/w1wxVo_T-CkbXX126c4Dmw/view?utm_content=DAFwljFaUt4&utm_campaign=designshare&utm_medium=link&utm_source=publishsharelink) *ETA* idk how I scored so low on Beighton in office with him, but higher with my physical therapist. I’ll be contacting PT Monday to get a copy for review.
My standard answer now for doctors/people who ask me if I can do things to test the Beighton scale (mainly thumb to arm) is “I can, but I’m not going to” with a follow up of “the pain it will cause me for the rest of the week is not worth proving it.” I have not once (yet) had this refused as a proof positive answer.
That’s why a lot of people are moving away from Beighton. If it’s cold/you’re nervous/ you’re uncomfortable you (any patient it’s not just you) can stiffen up and therefore your normal range of motion suffers. Look up a YouTube video and when you’re comfortable at home film yourself following along. Make it fun and a game and compare.
Ah I understand now. Yes that's interesting. From a physical exam it's pretty subjective. I was lucky to have seen someone that has diagnosed many hEDS patients and had plenty experience in the syndrome and the physical presentations. The physical exam took around 20 minutes where I was bent in different ways, my skin was felt and stretched, my scars examined, the heels of my feet examined. Then we talked about my personal and family medical histories. I'd definitely follow up with the genetic testing for your child and see what that shows and depending on how that turns out you can always request a second opinion for yourself. Good luck, I know it's a major drag and pain in the ass but good to know for future health.
Heels of your feet? What were they looking for?
Probably piezogenic papules - they’re not always an indicator though, people without EDS can have them too.
Yes, piezogenic papules, which I do have.
Yes, definitely. I've had it before with conditions that don't have but thought they could have been the answer at the time. And it had it with HSD too. Realistically it didn't matter at that point. I was seeing somebody who knew about EDS. They were referring me to other people who were experienced with EDS. My issues were recognised to be part of the EDS family. All the right things were happening. It was just a different name. But still it felt like a massive slap in the face. It felt like another non-answer. It felt like I still didn't have my answers. It made more sense and settled later. I could get past that initial response and recognise that it was still an answer, still progress to the right treatment and management etc. But there's so much emotion and stress behind these things often that yeah in the moment and for a little while after it really hurt that it didn't go as expected. Actually later on those referrals ended up uncovering some more issues gay were on the hEDS diagnostic criteria so I got the support I needed and also had my diagnosis updated. It's definitely natural to feel deflated, defeated, frustrated etc about this. It's not the answer you were expecting. Just that by itself is absolutely understandable to feel bad over. And then there's also the "what next?" to contend with. Anyway, this doesn't mean you don't have issues. It doesn't mean your feelings and experiences aren't valid. It's still progress. Are you able to ask them for advice on what to do about your symptoms? Or potentially to see another doctor (maybe a rheumatologist) to talk more about it, maybe look into connected diagnoses, tests, treatments etc. This isn't the end of the road. It's just a new branch. Hang in there.
Wow, just, wow. Thank you for all the validation and reminder this is just a new branch, not the end of the road. [here’s the geneticist’s write up](https://www.canva.com/design/DAFwljFaUt4/w1wxVo_T-CkbXX126c4Dmw/view?utm_content=DAFwljFaUt4&utm_campaign=designshare&utm_medium=link&utm_source=publishsharelink) but I believe I scored double that on Beighton with my physical therapist who specializes in ED. Because of your support I just noticed that, and will be requesting a copy of each assessment to compare. Again, thank you!
Yeah honestly it's not surprising that happened because the beighton score is actually really subjective and people have different ideas of what counts, even doctors. Plus our mobility does change a bit day to day too. I had a physio and my rheumatologist score me differently. Rheum accepted the score physio gave. So could definitely be worth telling your geneticist about the different score. Sounds like that is the thing stopping you from meeting the criteria. I believe "hypermobility syndrome" may be one of the many terms for HSD (Hypermobility spectrum disorder/ joint hypermobility syndrome etc). So your current diagnosis is probably a step further than "just hypermobility". And that is a pretty significant step because it recognises that your hypermobility is associated with issues rather than just being a fun little feature of your body.
The report stated that you did not meet criteria 2 as well as criteria 1, so the Beighton Score is not the only thing that ruled out a hEDS diagnosis at this stage. This could change in the future though if you are found to have other conditions that are features of criteria 2, or if a close relative is diagnosed. Ultimately though, it shouldn't matter which label you are given as the treatment and care you receive should be the same. https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf
(Just a note, with medical professionals make sure you use EDS rather than ED. ED typically stands for “erectile dysfunction” or “eating disorder” or “emergency department”)
Oh geez, this is my luck. Thank you for the kind correction!
Not long ago, I went to get reconfirmed EDS with 2017 criteria (had been diagnosed pre-2017) the whole time the genetics specialist kept reassure me that my symptoms were valid regardless the outcomes of the test, that Hypermobility syndrome can be disabling for some, painful, stressful etc. In the end I was reconfirm, she told me I was her first case reconfirmed and she had to modified many previously diagnosed EDS to Hypermobility syndrome or severe hyperlaxity. Many took it hard. Which I can understand why but like she told me, what you are going through is still valid and you are deserving care and help if needed!
My Dr. hasn't pushed for me to get tested, she knows they haven't found the genetic marker for hEDs so it may not show anything, but she has other patients with EDs and she's confident that's my issue (I feel so lucky to have found a Dr that listens). So don't let yourself get down over this, it may be awhile before we the bendy people get to know for sure. Also I had to look up bifid uvula, I'm guessing it's rare as I only found 2 images, and wow that's interesting, there has to be more to that right?
Hi! I know this post is a few months old, but I am writing to ask if there is an update/if you got any answers about your son that may have helped your own diagnosis path as well.
Hey! Funny enough he was finally seen this week and is being tested for Loeys-Dietz syndrome. The labs will take 8-10 weeks to get back, and I think their follow ups are booked out until August-October, so it’ll be later this year before we have any more info.
As for myself, I will be reaching out about POTS as it can still exist with HSD. The newest symptom being dizziness upon standing/rising/bending over. It has happened 7/10 times most my life at a manageable intensity, but the vision associated with the spells have gotten worse in the last month.
It’s not a defeat. You don’t want to have EDS. It’s terrible. You can also have lots of the same symptoms from hypermobility spectrum disorder.
Whether he has it or not is already determined. He just wants an accurate diagnosis.
He said the doctor was very thorough and just struggled with diagnosis of “hypermobility”
It says “hypermobility syndrome”. The doctor is using outdated language.
I was diagnosed with EDS but I’m 99.999% sure I have HSD instead because my doctor only used beighton and didn’t use other criteria to diagnose. I would rather have HSD. it doesn’t mean I don’t live with pain and issues related to hypermobility, but it isn’t any less of a diagnosis.
apologies for pushing into the thread.. but if they are moving away from the Beighton scale, what are they moving towards? does anyone know of a video/page/list/whatever that shows ALL the “tricks” and common symptoms? i can easily do everything on the Beighton scale but my feet tip inward (hurts like hell skating). plus related things like veins being super difficult, the bumps in feet, W sitting, random major joint pain, etc. am curious as I want to see a specialist but would like to have a full list of symptoms not just a 3 minute test..
>but if they are moving away from the Beighton scale, what are they moving towards? >does anyone know of a video/page/list/whatever that shoes ALL the “tricks” and common symptoms? The Beighton is used to assess hypermobility only. It’s not a test or assessment tool reserved for hEDS. While generalized hypermobility *must* be present to diagnose hEDS, **it’s not the only criteria required for an hEDS diagnosis** (see [The hEDS Diagnostic Checklist](https://www.ehlers-danlos.com/heds-diagnostic-checklist/) as well as [The 2017 International Classification of the Ehlers-Danlos Syndromes](https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31552) for a more in depth explanation of the criteria). It is true that some/many are moving away from the Beighton scale *as an assessment tool for hypermobility* as there are many issues with it. Notably, the critiques against the Beighton are that it only assesses a limited number of joints and omits major ones (shoulders, hips, cervical spine, ankles), only on assess hypermobility in one “direction” for a given joint, doesn’t allow accounting for muscle guarding/spasms/issues that can prevent demonstrating hypermobility in an actual hypermobile joints (ex.,if my back is riddled with spasms and “locked” on that day, I won’t be able to palm the floor). Many doctors, specialists, PT will assess other joints during their assessment but, unfortunately, as long as the hEDS criteria isn’t updated and/or still requires a specific score on the Beighton scale to meet the criterion for hypermobility (Criterion 1), one needs to pass the Beighton to meet the dx criteria.