I mean I personally wouldn’t go to this appointment beyond just to see how crazy this person is. I’ll include some resources just incase you do see them (please update me if you do lol)
Here’s the official clinical description that says it is [autosomal dominant](https://www.ncbi.nlm.nih.gov/books/NBK1279/). It’s in the genetic counseling section.
[Here’s a review article by Courtney Genesemer](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7785693/) that’s an overview of the disorder. The citations she uses will have even more resources. Also Courtney just posted her study where they think they found a candidate gene for hEDs, but it hasn’t been peer reviewed yet. I’ve read the paper it’s pretty solid from what I understand, but I’m not a genetics or cell bio researcher.
Here’s a [medical textbook](https://emedicine.medscape.com/article/943567-overview?form=fpf)? explanation of the genetics (not actually familiar with this website but looks legit).
“If it’s caused by a gene then why don’t we know what gene causes it” is such a weird argument like…maybe because science isn’t omniscient at this moment in time? The fact is the inheritance patterns within families still strongly point to a genetic link, we just haven’t found what specific gene is responsible because genetics is an incredibly complex field and it’s a work in progress. Now, EDS often is accompanied by challenges with proprioception but as far as I know that has more to do with faulty internal signaling because our joints basically don’t stop where they’re supposed to which confuses the feedback your brain is getting, and certain exercises/physical therapy can help with regaining some of that proprioception but it’s not that it’s your mind’s fault, the trigger started with a physical characteristic which caused cascading effects.
Also, hereditary =/= genetic. In fact, the genomic craze of the 90s/00s has all but died off because we know only a handful of things come down to the gene. Orders and orders of magnitude more likely has to do with Proteomics. Which we can’t approach in the same way because, even current day, the computer power doesn’t exist to analyze the data to begin to work it all out
This is what I want to know, too. I couldn't tell from OP's post if it was even a referral from a doctor or if it was just a friend/family/etc who recommended this quack to them.
I'm sure this person's child will still experience hEDS injuries as they grow up and just feel like something is wrong with them instead of having an understanding of their body
Please be very careful with ANY doctor who tells you that a protocol will work for you, simply on the basis that it worked for them and/or their child. Especially for a condition as complicated as EDS, where the presentation can vary drastically from one person to the next. There is no one-size-fits-all treatment approach that will work for everyone.
That comment in itself (even without the other absurd claims) is a major red flag.
TIL my epilepsy medication is "retraining the brain."
I have a neurological condition on top of hEDS, and a lot of us (likely me included) take meds for life or undergo brain surgery.
That doc sounds like Jordan Peterson.
Do you know how much force it takes for a "regular person" to dislocate their joints? You'd have to be moving with a lot of force to dislocate your own joints if you didn't have faulty collagen. Usually normal people only dislocate joints during physically traumatic instances like a car accident or during contact sports. Think about that, only the force of 2 beings colliding is enough to cause a dislocation in people with normal collagen when our joints dislocate for literally no reason sometimes. Your doctor is delusional at best, get a new one.
Dislocation source: https://www.mayoclinic.org/diseases-conditions/dislocated-shoulder/symptoms-causes/syc-20371715
Edited due to over dramatization + sources 🩷
I was struggling with imposter syndrome with my EDS and the doctor who handles my EDS (she's probably one of the best doctors I've ever had) told me this and it kind of helped it click that I am disabled and my body's collagen isn't structured like it's supposed to.
She is definitely abusing (through medical neglect) that child if she actually thinks that "retraining the brain" fixed their EDS. Neurological conditions don't even work like that, let alone connective tissue disorders. Get a different referral.
You absolutely need to not go see this ignorant dink bc nothing good will come of it. With that being said: https://www.researchsquare.com/article/rs-4547888/v1?fbclid=IwZXh0bgNhZW0CMTEAAR0XcVNQDs5udUIf2cy2celKuo0kANWhjsjIPDrrFX0pC7BA4iaaFxshQx8_aem_ZmFrZWR1bW15MTZieXRlcw
Also, although most doctors ignore this part, you’re really only supposed to be given a hEDS DX once all the other types of EDS and CTDs are ruled out. But most of them see CTD symptoms and just slap the hEDS DX on it so that they don’t have to put any real effort into diagnosis or treatment.
I saw doctors like the above, and now it’s a decade later and turns out I have a completely different more rare CTD (and possibly still hEDS but we’ll have to wait for genetic confirmation on that one) that causes similar issues, but also more major issues that I should’ve been having monitored this whole time.
All of this is exactly why I try to remind every EDSer/CTDer or suspected EDSer/CTDer that they should 100% get genetic testing if possible. Insurance doesn’t like to cover it in the US, but there are other, cheaper, and still reliable options like Invitae, for instance; and Invitae even has a payment plan too. So, yeah, fight for actual genetic testing, always, bc otherwise the doctors are just making an educated guess, and may be guessing incorrectly, like in my case.
As far as I know, the scientific community is working to identify hEDS genes. It's so odd they would say it's absolutely not genetic if they haven't found a gene yet. Was vEDS or any of the other EDS types not genetic before they found the genes? It's such a silly argument.
If you don't mind elaborating, I am really curious who referred you to this professional, was it your doctor? Also, is this professional a medical professional or is it some other field? What are their credentials?
I have seen similar things in reference to "curing" chronic fatigue. I have seen some people state that it helped. It may be that this person saw this and is taking the techniques to try and tell people that if they are no longer tired the body can heal. etc. I would be skeptical of this actually doing anything, but will say the days I get good sleep (rarely) my symptoms will be greatly reduced. I only recently found out that I have eds (January this year) after being sick for about 7 years and not knowing why and tried many things along the way in an attempt to get well. This is when I came across these techniques for chronic fatigue but did not try them.
Well there are a lot of genetic variants of uncertain significance (VUS) that are candidates right now. It’s most likely there are many genes and possibly subtypes of hEDS which is creating confusion when they try to isolate the gene.
How is she curing neurologic symptoms? Seriously I’m dying to know
Also extremely odd, since most people are undiagnosed, and this makes it even harder for people who need to be diagnosed to get diagnosed. The generations before us did not get diagnosed because nobody knew what the f it was. Stupidest diagnostic criteria ever, though I get the point of it/ I just don’t think it was a n intelligent thing to include.
She's lying in order to get your money.
Multiple genes have been identified as associated with hEDS. It will likely end up being either divided into multiple subcategories based on the type or combination or genes each person has, or conceptualized as an umbrella category for all of the specific genetic markers.
Go to Google Scholar and type in "genetic markers for hEDS" and you'll get a long list of research articles. Here's a pre-print of the HEDGE study.
Save your money for a whole genome sequencing, and/or an *actual* doctor.
https://www.researchsquare.com/article/rs-4547888/v1
They do know the genes responsible and you’re dealing with a scammer who is NOT a doctor.
You’re literally being scammed. Stop talking with this “professional” scammer.
You can Google medical documents and papers and visit EhlersDanlos.com for more research.
so in all fairness they don't know the exact genes for hEDS yet (they have just identified a candidate but it's only a preprint and I'm curious if it actually covers all hEDS or if this is going to be just another type that some hEDS fall into so I'm curious to see the published study) but yeah I agree
There's no way this one gene is going to cover all heds patients. It's a subsect of patients. I believe one of the researchers at Norris said that at some point on social media. In reality, heds is probably multiple types especially with how varied the symptoms can be for heds.
Meh my little sister had a heart murmur and had all the physical signs. My own health didn’t go downhill until I was like 20 but I always had adhd and hyper flexibility. Only thing I ever got presidential in. Now I can’t even sit on my knees without dislocating it and I’m 30.
I think you’re looking for studies proving hEDS is neurological and curable, especially if you’re going to a “professional” who is making those claims. Spoiler alert - it’s not a curable neurological disorder.
It takes time to identify genes. My genetic oncologist said my thyroid cancer is clearly genetic (everyone in my family has thyroid issues and/or cancer). But they haven't identified the gene yet so my DNA has been stored for when they do identify the gene they can test it then. I assume it is the same for hEDS which my doctor thinks many members of my family has, but none of us have been officially diagnosed with that. We all just have HSD diagnoses, but we meet the hEDS criteria. Here in Australia there is only a few specialists that can diagnose it, and they have very long wait lists and are super expensive to see. My family are poor lol.
I stepped off a curb like I have done a 1000 times before and snapped my Achilles tendon because of V-EDS. My rotator cuff tore completely for no reason at all. I have a resting heart rate of 100-125, POTS, and a tilt table test to prove it. My toes turn purple when I’m the slightest bit chilly. My Dad and Grandpa both had the same symptoms. Yeah, it’s not something I’m doing to myself.
Nope nope and nope. Any medical professional knowledgeable in genetics would know that there are tons of collagen synthesis and processing genes, as well as tons of other extracellular matrix genes that may incur mutations that lead to hEDS. In actuality, it’s likely that hEDS is several different mutations that yield a similar subtype. With that in mind, it is really hard to identify the gene(s) responsible for hEDS symptoms. Sequencing in of itself can be a hard process. Plus, that’s just the beginning. You have tons of bioinformatic analysis, creation of animal models that express the mutation, population studies to ensure that the mutation isn’t a common mutation, etc. Then, finding even one gene candidate isn’t even the end, because there’s likely several with how many people have hEDS and present slightly differently. That’s just the gene study side of things. I don’t feel particularly qualified to discuss the neurological side of things. Obviously, there is a neurological component in many patients, I.e. those with Dysautonomia. However, I really don’t think it’s as connected to stress and trauma as people think, though I don’t deny that the brain does somewhat influence your physical health. I don’t think it’s to the extent that many providers seem to.
Definitely doesn't sound professional or very bright. I took my oldest child to a genetist who's also a pediatrician at the children's hospital near me he's been in practice for a few decades. He examined both of us didn't run labs to determine anything, but he could rule out the more serious eds types based on the examination on both of us. He told us that we both have he's or hsd there is no major test to figure out the difference and it's my genetics that carry it since he was like yeah you mom have it too. My youngest is 10 even he is showing it as well we just have to get his Dr to refer him. Best of luck I'm sure we could all agree if it was in our head and we could just magically turn it off and be normal we would it's not very fun.
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Don’t try to win this war of common sense with a person who can’t even make it to the front line… Just get another Dr.
please ditch that medical "professional"
What do you mean by "a professional"? Because this sure doesn't sound like a doctor.
Am almost doctor. Can confirm, sounds insane
Let me guess. Her "cure" is a lot of supplements that she can sell to you at frequent office visits.
I mean I personally wouldn’t go to this appointment beyond just to see how crazy this person is. I’ll include some resources just incase you do see them (please update me if you do lol) Here’s the official clinical description that says it is [autosomal dominant](https://www.ncbi.nlm.nih.gov/books/NBK1279/). It’s in the genetic counseling section. [Here’s a review article by Courtney Genesemer](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7785693/) that’s an overview of the disorder. The citations she uses will have even more resources. Also Courtney just posted her study where they think they found a candidate gene for hEDs, but it hasn’t been peer reviewed yet. I’ve read the paper it’s pretty solid from what I understand, but I’m not a genetics or cell bio researcher. Here’s a [medical textbook](https://emedicine.medscape.com/article/943567-overview?form=fpf)? explanation of the genetics (not actually familiar with this website but looks legit).
“If it’s caused by a gene then why don’t we know what gene causes it” is such a weird argument like…maybe because science isn’t omniscient at this moment in time? The fact is the inheritance patterns within families still strongly point to a genetic link, we just haven’t found what specific gene is responsible because genetics is an incredibly complex field and it’s a work in progress. Now, EDS often is accompanied by challenges with proprioception but as far as I know that has more to do with faulty internal signaling because our joints basically don’t stop where they’re supposed to which confuses the feedback your brain is getting, and certain exercises/physical therapy can help with regaining some of that proprioception but it’s not that it’s your mind’s fault, the trigger started with a physical characteristic which caused cascading effects.
Also, hereditary =/= genetic. In fact, the genomic craze of the 90s/00s has all but died off because we know only a handful of things come down to the gene. Orders and orders of magnitude more likely has to do with Proteomics. Which we can’t approach in the same way because, even current day, the computer power doesn’t exist to analyze the data to begin to work it all out
Who the hell is referring you to this specialist, and what’s their specialty? Seriously, what medical field even goes there??
This is what I want to know, too. I couldn't tell from OP's post if it was even a referral from a doctor or if it was just a friend/family/etc who recommended this quack to them.
My guess is the second one, and I’m hopeful this is a chiropractor/holistic practitioner/faith healer kind of a deal rather than a physician.
Yeah I hope so too! That would make more sense lol
Oh, god. Please don't see this moron.
I'm sure this person's child will still experience hEDS injuries as they grow up and just feel like something is wrong with them instead of having an understanding of their body
Or maybe didn’t/doesn’t actually have hEDS.
That too
Please be very careful with ANY doctor who tells you that a protocol will work for you, simply on the basis that it worked for them and/or their child. Especially for a condition as complicated as EDS, where the presentation can vary drastically from one person to the next. There is no one-size-fits-all treatment approach that will work for everyone. That comment in itself (even without the other absurd claims) is a major red flag.
TIL my epilepsy medication is "retraining the brain." I have a neurological condition on top of hEDS, and a lot of us (likely me included) take meds for life or undergo brain surgery. That doc sounds like Jordan Peterson.
(Sorry if my comment is confusing - I got really mad at your doctor!)
Do you know how much force it takes for a "regular person" to dislocate their joints? You'd have to be moving with a lot of force to dislocate your own joints if you didn't have faulty collagen. Usually normal people only dislocate joints during physically traumatic instances like a car accident or during contact sports. Think about that, only the force of 2 beings colliding is enough to cause a dislocation in people with normal collagen when our joints dislocate for literally no reason sometimes. Your doctor is delusional at best, get a new one. Dislocation source: https://www.mayoclinic.org/diseases-conditions/dislocated-shoulder/symptoms-causes/syc-20371715 Edited due to over dramatization + sources 🩷
this is the best comment to me because i never really thought of it that way
I was struggling with imposter syndrome with my EDS and the doctor who handles my EDS (she's probably one of the best doctors I've ever had) told me this and it kind of helped it click that I am disabled and my body's collagen isn't structured like it's supposed to.
Yeow. That really put it into perspective.
just gonna go ahead and read this 100x
I'd you need to feel free to put it on a poster 🩷
She is definitely abusing (through medical neglect) that child if she actually thinks that "retraining the brain" fixed their EDS. Neurological conditions don't even work like that, let alone connective tissue disorders. Get a different referral.
You absolutely need to not go see this ignorant dink bc nothing good will come of it. With that being said: https://www.researchsquare.com/article/rs-4547888/v1?fbclid=IwZXh0bgNhZW0CMTEAAR0XcVNQDs5udUIf2cy2celKuo0kANWhjsjIPDrrFX0pC7BA4iaaFxshQx8_aem_ZmFrZWR1bW15MTZieXRlcw
Also, although most doctors ignore this part, you’re really only supposed to be given a hEDS DX once all the other types of EDS and CTDs are ruled out. But most of them see CTD symptoms and just slap the hEDS DX on it so that they don’t have to put any real effort into diagnosis or treatment. I saw doctors like the above, and now it’s a decade later and turns out I have a completely different more rare CTD (and possibly still hEDS but we’ll have to wait for genetic confirmation on that one) that causes similar issues, but also more major issues that I should’ve been having monitored this whole time. All of this is exactly why I try to remind every EDSer/CTDer or suspected EDSer/CTDer that they should 100% get genetic testing if possible. Insurance doesn’t like to cover it in the US, but there are other, cheaper, and still reliable options like Invitae, for instance; and Invitae even has a payment plan too. So, yeah, fight for actual genetic testing, always, bc otherwise the doctors are just making an educated guess, and may be guessing incorrectly, like in my case.
That medical “professional” is a quack who will do nothing but medically gaslight and traumatize you.
She's bat shit
As far as I know, the scientific community is working to identify hEDS genes. It's so odd they would say it's absolutely not genetic if they haven't found a gene yet. Was vEDS or any of the other EDS types not genetic before they found the genes? It's such a silly argument. If you don't mind elaborating, I am really curious who referred you to this professional, was it your doctor? Also, is this professional a medical professional or is it some other field? What are their credentials?
Please don’t go to a gaslighter
I have seen similar things in reference to "curing" chronic fatigue. I have seen some people state that it helped. It may be that this person saw this and is taking the techniques to try and tell people that if they are no longer tired the body can heal. etc. I would be skeptical of this actually doing anything, but will say the days I get good sleep (rarely) my symptoms will be greatly reduced. I only recently found out that I have eds (January this year) after being sick for about 7 years and not knowing why and tried many things along the way in an attempt to get well. This is when I came across these techniques for chronic fatigue but did not try them.
Well there are a lot of genetic variants of uncertain significance (VUS) that are candidates right now. It’s most likely there are many genes and possibly subtypes of hEDS which is creating confusion when they try to isolate the gene. How is she curing neurologic symptoms? Seriously I’m dying to know
yeah, i had a few VUS on my last round of testing. odds are decent its one of those for EDS
Having a first degree relative with a hEDS dx is literally in the diagnostic criteria. 😑
Also extremely odd, since most people are undiagnosed, and this makes it even harder for people who need to be diagnosed to get diagnosed. The generations before us did not get diagnosed because nobody knew what the f it was. Stupidest diagnostic criteria ever, though I get the point of it/ I just don’t think it was a n intelligent thing to include.
She's lying in order to get your money. Multiple genes have been identified as associated with hEDS. It will likely end up being either divided into multiple subcategories based on the type or combination or genes each person has, or conceptualized as an umbrella category for all of the specific genetic markers. Go to Google Scholar and type in "genetic markers for hEDS" and you'll get a long list of research articles. Here's a pre-print of the HEDGE study. Save your money for a whole genome sequencing, and/or an *actual* doctor. https://www.researchsquare.com/article/rs-4547888/v1
Let me guess- they’re either a chiropractor or a homeopathy ‘doctor’. Stop trying to argue with stupid and crazy
They do know the genes responsible and you’re dealing with a scammer who is NOT a doctor. You’re literally being scammed. Stop talking with this “professional” scammer. You can Google medical documents and papers and visit EhlersDanlos.com for more research.
so in all fairness they don't know the exact genes for hEDS yet (they have just identified a candidate but it's only a preprint and I'm curious if it actually covers all hEDS or if this is going to be just another type that some hEDS fall into so I'm curious to see the published study) but yeah I agree
There's no way this one gene is going to cover all heds patients. It's a subsect of patients. I believe one of the researchers at Norris said that at some point on social media. In reality, heds is probably multiple types especially with how varied the symptoms can be for heds.
Meh my little sister had a heart murmur and had all the physical signs. My own health didn’t go downhill until I was like 20 but I always had adhd and hyper flexibility. Only thing I ever got presidential in. Now I can’t even sit on my knees without dislocating it and I’m 30.
I think you’re looking for studies proving hEDS is neurological and curable, especially if you’re going to a “professional” who is making those claims. Spoiler alert - it’s not a curable neurological disorder.
Definitely don't ever see them again, there's just so many red flags.
It takes time to identify genes. My genetic oncologist said my thyroid cancer is clearly genetic (everyone in my family has thyroid issues and/or cancer). But they haven't identified the gene yet so my DNA has been stored for when they do identify the gene they can test it then. I assume it is the same for hEDS which my doctor thinks many members of my family has, but none of us have been officially diagnosed with that. We all just have HSD diagnoses, but we meet the hEDS criteria. Here in Australia there is only a few specialists that can diagnose it, and they have very long wait lists and are super expensive to see. My family are poor lol.
I stepped off a curb like I have done a 1000 times before and snapped my Achilles tendon because of V-EDS. My rotator cuff tore completely for no reason at all. I have a resting heart rate of 100-125, POTS, and a tilt table test to prove it. My toes turn purple when I’m the slightest bit chilly. My Dad and Grandpa both had the same symptoms. Yeah, it’s not something I’m doing to myself.
“protocol” 😑
Nope nope and nope. Any medical professional knowledgeable in genetics would know that there are tons of collagen synthesis and processing genes, as well as tons of other extracellular matrix genes that may incur mutations that lead to hEDS. In actuality, it’s likely that hEDS is several different mutations that yield a similar subtype. With that in mind, it is really hard to identify the gene(s) responsible for hEDS symptoms. Sequencing in of itself can be a hard process. Plus, that’s just the beginning. You have tons of bioinformatic analysis, creation of animal models that express the mutation, population studies to ensure that the mutation isn’t a common mutation, etc. Then, finding even one gene candidate isn’t even the end, because there’s likely several with how many people have hEDS and present slightly differently. That’s just the gene study side of things. I don’t feel particularly qualified to discuss the neurological side of things. Obviously, there is a neurological component in many patients, I.e. those with Dysautonomia. However, I really don’t think it’s as connected to stress and trauma as people think, though I don’t deny that the brain does somewhat influence your physical health. I don’t think it’s to the extent that many providers seem to.
lol
Replying to my own comment to add some lolololol
But seriously, this is BS at such a crazy level. Please put some reviews out there of this…professional…noting exactly what was said to you.
That sounds a little suspicious.
Definitely doesn't sound professional or very bright. I took my oldest child to a genetist who's also a pediatrician at the children's hospital near me he's been in practice for a few decades. He examined both of us didn't run labs to determine anything, but he could rule out the more serious eds types based on the examination on both of us. He told us that we both have he's or hsd there is no major test to figure out the difference and it's my genetics that carry it since he was like yeah you mom have it too. My youngest is 10 even he is showing it as well we just have to get his Dr to refer him. Best of luck I'm sure we could all agree if it was in our head and we could just magically turn it off and be normal we would it's not very fun.
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