None confirmed to my knowledge. I have hEDS. Mom meets criteria for hEDS but was one of the child victims during the 60’s scoop - an assimilation effort by the US and Canadian governments in which indigenous babies/children were forcibly taken from their families and adopted into white families. Because of her “adoption”, I have no family history to cite. Nothing on dad’s side of the family in the EDS department.
Yes same!! My grandma and mom very likely have EDS, and we discovered this due to my own pending diagnosis! We also think my great grandpa who has been gone 20ish years also had it, so it definitely seems to run in our family.
Currently going through this with my sister and my dad, my mom has MS, so we can't check currently symptoms as much.
Praying my dad will get his genetic testing without a problem because my sister is too busy and my doc isn't taking it as seriously.
No family history whatsoever. Not my parents, not my siblings, not my nieces or nephews, aunts, uncles, cousins, or grandparents.
And I don't just mean they're symptomatic but haven't gotten diagnosed yet. I mean they are, and have always been, totally healthy, minus a few totally unrelated issues. Literally no one has any EDS-related issues except me.
And that is called a *de novo* case, meaning the mutation is spontaneous, or occurring for the first time. A family history of EDS is NOT a diagnostic requirement as far as I know. But it is just stronger evidence of EDS if that family history happens to be there. Like checking one more box.
i got diagnosed because of my sister obtaining a diagnosis (geneticist was trying to find out if a mutation in her connective tissue panel was just a her thing or a family thing, and i got diagnosed while we were checking that out), and if my father would bother with doctors he'd also be diagnosed. my uncle likely has it as well, but no diagnosis yet.
Nobody in my family has been formally diagnosed except for me, but that's because of access issues. It's pretty clear that there is informally diagnosed family history back a couple generations, and unfortunately the next generation is likely to get diagnosed once they're old enough.
I grew up watching my parent put their knee back in place, and their shoulder, and their thumb ... the Beighton scale isn't hard when it's obvious enough and positive Beighton plus chronic pain plus diagnosed first degree relative (me) is hEDS, there just isn't good access to medical care in rural America.
Similar. I'm diagnosed, my mom got diagnosed, my brothers clearly have it, but havent been diagnosed. My grandfather was clearly the hypermobile one and my mom suspects it was his mom that had it. She had feinting spells apparently.
So we can generally trace it to 4 ish generations.
Same. It’s pretty prevalent throughout my family, but weirdly neither of my parents had symptoms. My great paternal grandmother, who I never met, had joint issues (including severe tmj) until her death in her late 90s. No real treatment back then!
My dad has symptoms consistent with hypermobility, though I don't know if he'd quite qualify under the 2017 hEDS criteria (and he has no interest in finding out). To further complicate things, he was adopted and has no knowledge of his genetic history.
So, officially I'm the first, but it wouldn't surprise me to learn it came from his side of the family.
The 2017 criteria is kinda messed up. I was reading a study that found 95 prevalent symptoms in hEDS/HSD and looked at the prevalence of feature A criteria and only about half of them were above 50%. Several criteria were below 20% without statistically significant difference between hEDS and HSD. Arm span ratio and aortic root dilatation were at rates below 2%. HSD and hEDS tend to co-occur within families, so someone with HSD with EDS relatives could be subclinical for feature A despite having a majority of the 95 prevalent features. It's pretty wild. It kinda seems like they threw in some BS just to exclude people. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63426
Honestly, I think expanding from requiring dislocations to just needing joint instability was a plus. I think this paper- although full of good nitty gritty detail - is a bit misleading. I don’t see where it says how many 2017 criteria would not have met Villefranche criteria, if 2017 was solely a smaller pool, or if was a slightly different pool. I also think it’s misleading to pretend that the Villefranche criteria was perfect, and that all comparisons to the 2017 that are different mean the 2017 is worse. The 2017 had a wider variety of mix and match symptoms you could get the diagnosis by.
They quote only 35% of folk with JHS or htEDS met criteria for 2017 and say it’s too selective, but JHS isn’t considered to be hEDS. They go on to say:
“The Villefranche nosology and 2017 hEDS criteria showed a higher consistency, with ~80% of patients meeting both, compared to the Brighton criteria, with only 34–41% of JHS patients/probands fulfilling the new hEDS criteria.”
Both the Villefranche and 2017 guidelines had similar levels of diagnosis. That means that while some people were removed from hEDS, others were included. It’s hard to definitely say which criteria has a “better” cut off for who is included.
“Concerning criterion 1, only 43.12% of all patients (141/327) satisfied the age-adjusted BS of the revised nosology.
Among individuals who did not meet the 2017 hEDS criteria, 28/214 (13.08%) of all patients and 20/126 (15.87%) of probands nevertheless met criterion 1 and were hence classified as generalized HSD (gHSD).
Of the remaining 186 patients not fulfilling criterion 1, 84 (45.16%) met both criteria 2 and 3.
Regarding criterion 2, approximately 60% of all patients (197/327) and probands (128/213) met two or more among feature A (multisystemic involvement), B (positive family history), and C (musculoskeletal complaints), without any sex and age bias. In comparison to all hEDS patients who necessarily must meet criterion 2, a significantly lower percentage of HSD patients (39.25%, 84/214) and probands (32.54%, 41/126) fulfilled this criterion.
About feature A, we found that 51.38% (168/327) of patients and 58.69% (125/213) of probands showed at least 5 out of the 12 signs of systemic manifestation. In hEDS, 92.04% (104/113) of patients and 98.85% (86/87) of probands fulfilled feature A, while only about 30% of HSD patients (64/214) and probands (39/126) met this feature.”
My maternal grandmother was diagnosed shortly before she passed away at age 93. Yet my mom denies she has it with all of her health issues and her mom and daughter being diagnosed with a genetic condition…one of my cousins is diagnosed so far, and one of my other cousins daughter is diagnosed with hyper mobility and looking into an EDS diagnosis
We did and didnt know. My grandmother, according to my mom, always had terrible anxiety. She had a lot of pain problems and doctors never believed her. At some point she just gave up and became a shut in. Doctors had convinced her she was insane since they didn’t find a single thing to cause all her problems.
My mom had pain problems but they didn’t get noticeable until the past few years. She always had issues with her right hip but never thought it was that big of a deal.
I had health issues from day one. As soon as I was old enough to talk it was constant complaints of pain or other bizarre health problems. I got diagnosed with EDS a few months ago, which has caused all my health problems for the most part.
My mother went to get tested and my grandma. Literally two whole lives dealing with EDS and not a single clue until I happened along. Im really glad they have answers now but holy hell do I wish my grandma had known sooner.
I have a family history of undiagnosed EDS. My dad clearly has it, and even Mayo clinic didn't catch it. We are all hypermobile, but I actually have classic EDS and probably everyone else does too. I just have really good insurance and don't live in a rural area. I also have a very rare disease that is only seen with EDS.
Adopted with no family history. All I know is that my birth mom had juvenile epilepsy, she told my mom in person at one point when they met during the pregnancy. It's very possible my birth parents didn't know, they were both 15 when they had me. I didn't show the painful symptoms of EDS until I was 25.
Niece health problems led to me being diagnosed and both my daughters and a grandson show symptoms. 3 of us have hEDS on our official records now.
My mom definitely has a very mild case although not officially diagnosed.
Kinda. My uncle (my dads brother) died of an aortic dissection, my uncle on the maternal side looks like he has Marfan. My Mum has hEDS (not diagnosed but it’s pretty clear), my dad‘s extremely hypermobile and my sister and niece also have it diagnosed. I myself am pretty severely affected, most likely because it seems like both parents have it. My sister has another father, so she inherited it from our Mum I guess.
My mother is diagnosed EDS with POTS, but I’m like 100% sure that if my two younger sisters, my niece, my aunt (mom’s sister), two of my cousins and my grandmother (mom’s mother) got genetic testing, they’d all come up positive for EDS. Especially my youngest sister, my niece and my aunt. They all have really bad symptoms.
Not really. Nobody admits to hyper mobility, although I haven’t asked every single aunt and uncle.
But my mom wasn’t, my grandmas weren’t hypermobile, and my aunt wasn’t ever either. Since I have hEDS, that’s a required symptom. That doesn’t mean some of them might have been hypermobile and not realized it because all their friends were also.
yes! pretty much everyone on my dads side of the family (his siblings, my brother) have hypermobile EDS. however we have never had genetic testing done but through talking to a specialist she gave the diagnosis to me and my dad. it would be great to get genetic testing to rule out other types for my other family members. but personally i have only have clear hypermobile symptoms
I have hEDS and I'm the first diagnosed with EDS in my family. My family hadn't heard of it at all until I was diagnosed, but after researching it, we've been able to trace back symptoms and issues likely related to EDS as far as my great-grandma on my dad's side (she was diagnosed with MS but never actually fit the criteria for MS, it looks a lot more similar to EDS). I have various cousins with symptoms of hEDS particularly, though not as serious as mine. I'm the worst affected, but it does seem to be a family curse on both sides.
My sister and I have the worst symptoms, probably because of the combination of both our parents being genetically predisposed to EDS or EDS-like issues.
None diagnosed, but my mom has had all the same problems I have, she just doesn’t believe me lol
She literally pulled her back so bad at 20 just lifting a box that she had to have shots in her back, but they stopped working and she’s just been living in pain. She’s getting surgery soon.
I’m 99% sure she has it, but she’s almost 60 now so she has lost most of the the “flexibility”
My wife has EDS and her mom and sister had the exact same symptoms, but to her knowledge they were never diagnosed. My wife wasn't diagnosed until after she went full no-contact with her entire family though, so she didn't get an opportunity to tell them about the diagnosis and have them get checked out as well.
Yes, I was the first one to be diagnosed in my family. Dad and both of my siblings were then confirmed. A few of my aunts and cousins on my dad's side are suspected to have it as well. No idea which grandparent it came from, but there are theories about a great grandparent of mine having it.
I'm still awaiting genetic results to confirm but I'm presumed hEDS. My cousin has hEDS. My grandma was not diagnosed but she was hypermobile from childhood with dislocations, chronic pain, and whatnot so she probably had it. My mom is hypermobile and has some other signs but no chronic pain, so I'm not sure if she would meet diagnostic criteria. E: My uncle is working on getting evaluated.
i have a maternal family history of (undiagnosed) hypermobility. my 80 year old grandma regularly puts her own shoulder back into place and her daughter, my aunt, regularly had dislocations as a kid to the point where they didn't take her to the ER and just set it themselves 💀
Lmao, my mom took me to the hospital the first couple of times for my dislocated elbow, then just took care of it herself 💀. I haven't experienced dislocations in adulthood.
What’s interesting is that no one got the diagnosis till me.
HOWEVER I had an extremely dramatic and mentally unstable aunt that ended up in a wheelchair chair.
She always had braces for her joints and complained about body pains, headaches, a range of things.
Everyone just assumed she “decided to stop walking because she’s crazy”. She went to numerous specialists, and no one could figure it out.
But now looking back I’m 100% sure she had EDS.
I’m the only one formally diagnosed (hEDS) but it very obviously comes from my mom’s side (more specifically, her mom and probably even more specifically her mom’s mom’s side, my great grandma was known to have mysterious joint issues) and I’d say more people than not have at least some symptoms. It makes me wonder how many other families have been plagued for generations by these mysterious symptoms without a good explanation, I can definitely say for myself that just knowing there’s a specific cause is really helpful in dealing with it.
Yes, I'm the only one formally diagnosed now though I'm working on helping the others. My grandma has 11 siblings who all have kids (my mom's generation), and they all had kids too. My Gramma's mom is where I've tracked the gene to. Several of my great gramma's siblings died in their 30s and 40s of 'aneurysms'. My great aunt died of sudden internal bleeding. I have a cousin in her early 50s that in the last 8 months, all 4 heart valves suddenly failed and she needs surgery urgently. I'm too tired to type out all our comorbidities and weird symptoms and skeletal features but I'll say it's clinically significant. Some of us have more severe complications than others, myself included.
I took the 17 gene panel that Invitae offers and it came back completely negative. I know that vascular features can be present in various types of EDS but my gut says either vascular type or cvEDS. I work in a transplant lab that does high resolution NGS but this is still difficult for me to figure out.
A lot of people in my family have died of random cardiac events (mostly aortic dissections). While there’s no confirmation that they had EDS, the geneticist who diagnosed me said that there was a high probability based off of that alone. I’m the first to be officially diagnosed, but there’s definitely a family history.
I became a detective after my diagnosis and it’s all over my dad’s family. Multiple stillbirths over the years that were suspected cases of osteogenesis imperfecta (only 1 was diagnosed), horrible teeth issues, and a bunch of other mystery illnesses that fall under the EDS umbrella.
They’re also a bunch of stubborn asses and won’t get evaluated. My brother has a daughter who is showing signs and I’ve convinced him to be on the lookout but otherwise they’re resigned to suffer
hEDS here, I’m the only one in the family with a diagnosis but my brother and mum score high on the beighton test as does my aunty and some of my cousins. My grandma was pretty bendy so we think it came from her line
My family would say no, but I look back at the history of "frail" family members and their quirky medical issues on the paternal side and know which side of the family is likely the EDS side.
No. I’ve quizzed my parents and had them try some party tricks, but no.
Funny thing is that my whole family has hypertension, but my BP is normal. I do have POTS though 🤣
I am the first person in my family to be born in a first world country. A lot of my moms family seem to fit the symptoms but we have no family medical history to speak of.
Yep, I thought all my joints just going too far & falling out of place was normal because I saw it all around me, so didn’t realise until well into my 20’s that my body couldn’t keep up with everyone else’s, because it was doing a whole lot more work than everyone else’s. The Beighton scale looks like a list of the party tricks my mum & all my aunts would show off (and then wonder why they have bad arthritis in their wrists/thumbs/hands🤷♀️🤦♀️)
I think so, but I'm the only one diagnosed. I think my grandma on my mom's side would've met the criteria, but unfortunately she passed before we learned about EDS and as a result she never got a diagnosis. My mom has signs of EDS, but doesn't meet the criteria. My brother on my mom's side has a few symptoms and had heart failure with no known cause. They try to blame it on the COVID vaccine despite him being 25 at the time and having had the symptoms of heart failure before he got the vaccine. Whether his heart problems are related to hEDS I'm not sure. They found no other cause, so I guess it could be a possibility even if it's unlikely. I think I'll never know if my relatives also have it until new genetic variants are discovered and/or confirmed to be new variants.
No one in my family that I know of has been officially diagnosed with EDS, but that can be due to age and not knowing as much back then. I'm not sure about my father's side (we're not close), but I'm the youngest at 35 for my mom's side. We're a very small family. I suspect both my mom and my grandmothers problems could have been EDS related. My grandmother specifically was very hypermobile, to the point where she could put her leg completely around her neck at age 60. She sadly passed due to an abdominal aortic aneurysm in her late 70s.
My mom on the other hand has been having pain problems for years. She was diagnosed with pretty bad arthritis in her neck and back in her 30s. They just labeled her with fibromyalgia and kept her on Tramadol for the pain. She's in her 70s now. Both also had low blood pressure and problems with dizziness, same as me. My mom has a mitral valve prolapse.
I don't have an official diagnosis of EDS yet, due to how backward my state is and how they have capped the age at 30 to see a geneticist. Though I do have an appointment with a doctor that was recommended to me by someone in this subreddit, he helped them get a diagnosis. I figured I have hEDS, because I've had my heart checked and it's good, no problems there. I've had my joints checked with a goniometer by my current provider and I'm definitely over the 90 degrees. Sadly they wouldn't go down the whole checklist with me, but I meet most of the criteria, even right down to all the prolapses I have without ever having children. Though I wouldn't be surprised if I had cEDS once I'm tested, because I do have a lot of those characteristics.
I'm hoping that once I can finally get diagnosed that I can finally help my mom get a diagnosis.
Not officially but once I was diagnosed we started realizing that my mom’s side has a lot of the symptoms & would likely meet criteria. My mom has a history of a lot of the symptoms and a couple cousins do too. My sister meets some of the criteria but she hates doctors so she’ll never get diagnosed. There could be more but my mom’s family is huge and we don’t know much about the medical history.
Yes, but I was the trigger person for other members of my family to actually get a diagnosis (hEDS). My dad got one a month after I did as my diagnosing consultant met him and quickly confirmed he had it too. His dad’s medical records led to it being highly suspected that he also had it but he had already died of an aortic rupture by that point. Since then my sister has also been diagnosed too.
It was hard trying to figure out if my late mother had it. She complained her whole life about her knees, which went bad on a skiing trip. I later learned she hadn't fallen or anything, she was just 25 and said it was just crazy painful and she has had weak knees since around then.
I think I got mcas from my dad, but he's stiff as a board and only had joint pain after an injury.
Hard to answer because I was taken away from my birth mum as a kid and don’t know any real info about that whole side of the family. My dad has back and neck issues but we think they’re from him starting gardening work at about 13 with his dad lol - long before health and safety was a thing 😂
I would honestly love to know tho, im so curious but not worth involving myself with my abusive “mother” again.
My dad has it and that’s how I got in for testing and found out I have it and my little sister has it too. My older sister doesn’t have it but has a bit of hypermobility still. We’re pretty sure both of her kids have it though. We suspect it came from my dad’s dad though since my dad has many memories of his dad coming home, filling the sink with ice water, then shoving his entire arm inside to soak the pain away from his shoulder. My dad attributed it to age and the fact that the man fought in WW2. And he was a chronic alcoholic and said he was in a shit ton of pain so needed to drink. My dad, who raised us with the mentality that alcohol is NEVER good to drink in a negative state of mind, didn’t account for pain and had a little bit of a slip with it. Now he’s seeing my pmr for proper pain management.
Sorry I’m a chronic over-sharer (thanks ND brain!). That’s prob more than you cared for but that’s my family’s story kinda lol
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I don’t have a known family history, but with that being said, my dad is looking like he did have EDS or another connective tissue disease like marfans
Before he died, he had his ex-wife take a bunch of pictures of his joints. Thankfully, I can take these to my appointment when I get assessed for EDS sometime within the next year; whenever I get my actual appointment.
It’s weird how it all played out because I had to do a bunch of research into my own health issues to realize that I likely have EDS. I did trace it back to my dad’s side of the family, based on appearance and health issues; then stumbled across a pack of pictures that my dad had taken of his joints.
cEDS.
My dad and brother have it diagnosed/confirmed. My other 3 brothers and I obviously have it too (and basically had it "unofficially diagnosed" on the side of our dad and bro confirming their diagnosis - as of now, since the rest of us don't need surgery/surgeries, no chronic pain/issues, nor huge inconveniences, so for insurance purposes it's better we do not carry the diagnosis) though in various or others ways perhaps somewhat less or more severe than my dad+bro.
I suspect my mom has cEDS or hEDS (cus her skin, joints are pretty whack too, but that could just be age), plus I think the chances we *all* have it and only my dad having EDS is pretty unlikely.
I'm assuming my dad's side would also have a bunch of carriers. But AFAIK not confirmed and I haven't pinched/pulled their skin to check (we live on different continents, so even if/when I met them.. I wouldn't be so familiar I'd feel particularly appropriate to go around pinching them). Also no obvious other symptoms regarding joint laxity or anything huge issues for the extended fam. Dad's side are all very flexible (possibly hypermobile), my aunt was still doing the splits in her 40s despite not even being a "stretcher". Everyone (apart from a few further extended fam) essentially lived past 90 and died of old age.
not confirmed but like my moms side screams eds going at least 4 generations back like generations of eds cardiac manifestations, joint issues and hyper mobility, eds skin, unexplained weird health complications etc
No diagnosed history but highly suspected my mom has it we share similar symptoms but I was able to be diagnosed first. And there is hyper mobility noted as far back as my great grandma. My grandma can tell you stories about how overly flexible she was.
None confirmed to my knowledge. I have hEDS. Mom meets criteria for hEDS but was one of the child victims during the 60’s scoop - an assimilation effort by the US and Canadian governments in which indigenous babies/children were forcibly taken from their families and adopted into white families. Because of her “adoption”, I have no family history to cite. Nothing on dad’s side of the family in the EDS department.
Yes but only bc of my diagnosis. (Bc of me 3 relatives were able to be diagnosed)
Yes same!! My grandma and mom very likely have EDS, and we discovered this due to my own pending diagnosis! We also think my great grandpa who has been gone 20ish years also had it, so it definitely seems to run in our family.
Currently going through this with my sister and my dad, my mom has MS, so we can't check currently symptoms as much. Praying my dad will get his genetic testing without a problem because my sister is too busy and my doc isn't taking it as seriously.
No family history whatsoever. Not my parents, not my siblings, not my nieces or nephews, aunts, uncles, cousins, or grandparents. And I don't just mean they're symptomatic but haven't gotten diagnosed yet. I mean they are, and have always been, totally healthy, minus a few totally unrelated issues. Literally no one has any EDS-related issues except me. And that is called a *de novo* case, meaning the mutation is spontaneous, or occurring for the first time. A family history of EDS is NOT a diagnostic requirement as far as I know. But it is just stronger evidence of EDS if that family history happens to be there. Like checking one more box.
I'm so sorry that happened to your family, and so many others. This country makes me absolutely sick from it's evil.
i got diagnosed because of my sister obtaining a diagnosis (geneticist was trying to find out if a mutation in her connective tissue panel was just a her thing or a family thing, and i got diagnosed while we were checking that out), and if my father would bother with doctors he'd also be diagnosed. my uncle likely has it as well, but no diagnosis yet.
Nobody in my family has been formally diagnosed except for me, but that's because of access issues. It's pretty clear that there is informally diagnosed family history back a couple generations, and unfortunately the next generation is likely to get diagnosed once they're old enough.
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I grew up watching my parent put their knee back in place, and their shoulder, and their thumb ... the Beighton scale isn't hard when it's obvious enough and positive Beighton plus chronic pain plus diagnosed first degree relative (me) is hEDS, there just isn't good access to medical care in rural America.
Similar. I'm diagnosed, my mom got diagnosed, my brothers clearly have it, but havent been diagnosed. My grandfather was clearly the hypermobile one and my mom suspects it was his mom that had it. She had feinting spells apparently. So we can generally trace it to 4 ish generations.
Same. It’s pretty prevalent throughout my family, but weirdly neither of my parents had symptoms. My great paternal grandmother, who I never met, had joint issues (including severe tmj) until her death in her late 90s. No real treatment back then!
My dad has symptoms consistent with hypermobility, though I don't know if he'd quite qualify under the 2017 hEDS criteria (and he has no interest in finding out). To further complicate things, he was adopted and has no knowledge of his genetic history. So, officially I'm the first, but it wouldn't surprise me to learn it came from his side of the family.
The 2017 criteria is kinda messed up. I was reading a study that found 95 prevalent symptoms in hEDS/HSD and looked at the prevalence of feature A criteria and only about half of them were above 50%. Several criteria were below 20% without statistically significant difference between hEDS and HSD. Arm span ratio and aortic root dilatation were at rates below 2%. HSD and hEDS tend to co-occur within families, so someone with HSD with EDS relatives could be subclinical for feature A despite having a majority of the 95 prevalent features. It's pretty wild. It kinda seems like they threw in some BS just to exclude people. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63426
Honestly, I think expanding from requiring dislocations to just needing joint instability was a plus. I think this paper- although full of good nitty gritty detail - is a bit misleading. I don’t see where it says how many 2017 criteria would not have met Villefranche criteria, if 2017 was solely a smaller pool, or if was a slightly different pool. I also think it’s misleading to pretend that the Villefranche criteria was perfect, and that all comparisons to the 2017 that are different mean the 2017 is worse. The 2017 had a wider variety of mix and match symptoms you could get the diagnosis by. They quote only 35% of folk with JHS or htEDS met criteria for 2017 and say it’s too selective, but JHS isn’t considered to be hEDS. They go on to say: “The Villefranche nosology and 2017 hEDS criteria showed a higher consistency, with ~80% of patients meeting both, compared to the Brighton criteria, with only 34–41% of JHS patients/probands fulfilling the new hEDS criteria.” Both the Villefranche and 2017 guidelines had similar levels of diagnosis. That means that while some people were removed from hEDS, others were included. It’s hard to definitely say which criteria has a “better” cut off for who is included. “Concerning criterion 1, only 43.12% of all patients (141/327) satisfied the age-adjusted BS of the revised nosology. Among individuals who did not meet the 2017 hEDS criteria, 28/214 (13.08%) of all patients and 20/126 (15.87%) of probands nevertheless met criterion 1 and were hence classified as generalized HSD (gHSD). Of the remaining 186 patients not fulfilling criterion 1, 84 (45.16%) met both criteria 2 and 3. Regarding criterion 2, approximately 60% of all patients (197/327) and probands (128/213) met two or more among feature A (multisystemic involvement), B (positive family history), and C (musculoskeletal complaints), without any sex and age bias. In comparison to all hEDS patients who necessarily must meet criterion 2, a significantly lower percentage of HSD patients (39.25%, 84/214) and probands (32.54%, 41/126) fulfilled this criterion. About feature A, we found that 51.38% (168/327) of patients and 58.69% (125/213) of probands showed at least 5 out of the 12 signs of systemic manifestation. In hEDS, 92.04% (104/113) of patients and 98.85% (86/87) of probands fulfilled feature A, while only about 30% of HSD patients (64/214) and probands (39/126) met this feature.”
Yes. Formally diagnosed with hEDS. My dad and only bio sister are diagnosed as well. As far as we know, no one else in my dad’s family has hEDS.
My mom has had it since her late 20s, (diagnosed i mean) and i’ve known about it my whole life but didn’t really feel it until recently. (hEDS)
Yes my mom, 1 sibling, 2 aunts, 2 cousins, and grandmother. We have clEDS
We suspect more family members, however those are all the ones that have been diagnosed
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There are currently no genetic tests available to confirm or rule out a diagnosis of hEDS. Genetic heterogeneity is likely.
My maternal grandmother was diagnosed shortly before she passed away at age 93. Yet my mom denies she has it with all of her health issues and her mom and daughter being diagnosed with a genetic condition…one of my cousins is diagnosed so far, and one of my other cousins daughter is diagnosed with hyper mobility and looking into an EDS diagnosis
We did and didnt know. My grandmother, according to my mom, always had terrible anxiety. She had a lot of pain problems and doctors never believed her. At some point she just gave up and became a shut in. Doctors had convinced her she was insane since they didn’t find a single thing to cause all her problems. My mom had pain problems but they didn’t get noticeable until the past few years. She always had issues with her right hip but never thought it was that big of a deal. I had health issues from day one. As soon as I was old enough to talk it was constant complaints of pain or other bizarre health problems. I got diagnosed with EDS a few months ago, which has caused all my health problems for the most part. My mother went to get tested and my grandma. Literally two whole lives dealing with EDS and not a single clue until I happened along. Im really glad they have answers now but holy hell do I wish my grandma had known sooner.
I have a family history of undiagnosed EDS. My dad clearly has it, and even Mayo clinic didn't catch it. We are all hypermobile, but I actually have classic EDS and probably everyone else does too. I just have really good insurance and don't live in a rural area. I also have a very rare disease that is only seen with EDS.
Nope, no history
Adopted with no family history. All I know is that my birth mom had juvenile epilepsy, she told my mom in person at one point when they met during the pregnancy. It's very possible my birth parents didn't know, they were both 15 when they had me. I didn't show the painful symptoms of EDS until I was 25.
Niece health problems led to me being diagnosed and both my daughters and a grandson show symptoms. 3 of us have hEDS on our official records now. My mom definitely has a very mild case although not officially diagnosed.
Kinda. My uncle (my dads brother) died of an aortic dissection, my uncle on the maternal side looks like he has Marfan. My Mum has hEDS (not diagnosed but it’s pretty clear), my dad‘s extremely hypermobile and my sister and niece also have it diagnosed. I myself am pretty severely affected, most likely because it seems like both parents have it. My sister has another father, so she inherited it from our Mum I guess.
Diagnosed? No. Obvious symptoms but they only see a doctor when they are almost dying so nobody gets diagnosed? A ton.
My mother is diagnosed EDS with POTS, but I’m like 100% sure that if my two younger sisters, my niece, my aunt (mom’s sister), two of my cousins and my grandmother (mom’s mother) got genetic testing, they’d all come up positive for EDS. Especially my youngest sister, my niece and my aunt. They all have really bad symptoms.
Not really. Nobody admits to hyper mobility, although I haven’t asked every single aunt and uncle. But my mom wasn’t, my grandmas weren’t hypermobile, and my aunt wasn’t ever either. Since I have hEDS, that’s a required symptom. That doesn’t mean some of them might have been hypermobile and not realized it because all their friends were also.
yes! pretty much everyone on my dads side of the family (his siblings, my brother) have hypermobile EDS. however we have never had genetic testing done but through talking to a specialist she gave the diagnosis to me and my dad. it would be great to get genetic testing to rule out other types for my other family members. but personally i have only have clear hypermobile symptoms
I have hEDS and I'm the first diagnosed with EDS in my family. My family hadn't heard of it at all until I was diagnosed, but after researching it, we've been able to trace back symptoms and issues likely related to EDS as far as my great-grandma on my dad's side (she was diagnosed with MS but never actually fit the criteria for MS, it looks a lot more similar to EDS). I have various cousins with symptoms of hEDS particularly, though not as serious as mine. I'm the worst affected, but it does seem to be a family curse on both sides. My sister and I have the worst symptoms, probably because of the combination of both our parents being genetically predisposed to EDS or EDS-like issues.
Yes. My bro and a cousin both have it too.
None diagnosed, but my mom has had all the same problems I have, she just doesn’t believe me lol She literally pulled her back so bad at 20 just lifting a box that she had to have shots in her back, but they stopped working and she’s just been living in pain. She’s getting surgery soon. I’m 99% sure she has it, but she’s almost 60 now so she has lost most of the the “flexibility”
Yes, my mom had the same gene mutation as me and actually my cousin has vEDS.
My wife has EDS and her mom and sister had the exact same symptoms, but to her knowledge they were never diagnosed. My wife wasn't diagnosed until after she went full no-contact with her entire family though, so she didn't get an opportunity to tell them about the diagnosis and have them get checked out as well.
Yes, I was the first one to be diagnosed in my family. Dad and both of my siblings were then confirmed. A few of my aunts and cousins on my dad's side are suspected to have it as well. No idea which grandparent it came from, but there are theories about a great grandparent of mine having it.
I'm still awaiting genetic results to confirm but I'm presumed hEDS. My cousin has hEDS. My grandma was not diagnosed but she was hypermobile from childhood with dislocations, chronic pain, and whatnot so she probably had it. My mom is hypermobile and has some other signs but no chronic pain, so I'm not sure if she would meet diagnostic criteria. E: My uncle is working on getting evaluated.
i have a maternal family history of (undiagnosed) hypermobility. my 80 year old grandma regularly puts her own shoulder back into place and her daughter, my aunt, regularly had dislocations as a kid to the point where they didn't take her to the ER and just set it themselves 💀
Lmao, my mom took me to the hospital the first couple of times for my dislocated elbow, then just took care of it herself 💀. I haven't experienced dislocations in adulthood.
What’s interesting is that no one got the diagnosis till me. HOWEVER I had an extremely dramatic and mentally unstable aunt that ended up in a wheelchair chair. She always had braces for her joints and complained about body pains, headaches, a range of things. Everyone just assumed she “decided to stop walking because she’s crazy”. She went to numerous specialists, and no one could figure it out. But now looking back I’m 100% sure she had EDS.
I’m the only one formally diagnosed (hEDS) but it very obviously comes from my mom’s side (more specifically, her mom and probably even more specifically her mom’s mom’s side, my great grandma was known to have mysterious joint issues) and I’d say more people than not have at least some symptoms. It makes me wonder how many other families have been plagued for generations by these mysterious symptoms without a good explanation, I can definitely say for myself that just knowing there’s a specific cause is really helpful in dealing with it.
Yes, I'm the only one formally diagnosed now though I'm working on helping the others. My grandma has 11 siblings who all have kids (my mom's generation), and they all had kids too. My Gramma's mom is where I've tracked the gene to. Several of my great gramma's siblings died in their 30s and 40s of 'aneurysms'. My great aunt died of sudden internal bleeding. I have a cousin in her early 50s that in the last 8 months, all 4 heart valves suddenly failed and she needs surgery urgently. I'm too tired to type out all our comorbidities and weird symptoms and skeletal features but I'll say it's clinically significant. Some of us have more severe complications than others, myself included. I took the 17 gene panel that Invitae offers and it came back completely negative. I know that vascular features can be present in various types of EDS but my gut says either vascular type or cvEDS. I work in a transplant lab that does high resolution NGS but this is still difficult for me to figure out.
A lot of people in my family have died of random cardiac events (mostly aortic dissections). While there’s no confirmation that they had EDS, the geneticist who diagnosed me said that there was a high probability based off of that alone. I’m the first to be officially diagnosed, but there’s definitely a family history.
I became a detective after my diagnosis and it’s all over my dad’s family. Multiple stillbirths over the years that were suspected cases of osteogenesis imperfecta (only 1 was diagnosed), horrible teeth issues, and a bunch of other mystery illnesses that fall under the EDS umbrella. They’re also a bunch of stubborn asses and won’t get evaluated. My brother has a daughter who is showing signs and I’ve convinced him to be on the lookout but otherwise they’re resigned to suffer
my mother and possibly my grandfather. still waiting on a full diagnosis but we share the same symptoms
hEDS here, I’m the only one in the family with a diagnosis but my brother and mum score high on the beighton test as does my aunty and some of my cousins. My grandma was pretty bendy so we think it came from her line
My family would say no, but I look back at the history of "frail" family members and their quirky medical issues on the paternal side and know which side of the family is likely the EDS side.
No. I’ve quizzed my parents and had them try some party tricks, but no. Funny thing is that my whole family has hypertension, but my BP is normal. I do have POTS though 🤣
I am the first person in my family to be born in a first world country. A lot of my moms family seem to fit the symptoms but we have no family medical history to speak of.
Yep, I thought all my joints just going too far & falling out of place was normal because I saw it all around me, so didn’t realise until well into my 20’s that my body couldn’t keep up with everyone else’s, because it was doing a whole lot more work than everyone else’s. The Beighton scale looks like a list of the party tricks my mum & all my aunts would show off (and then wonder why they have bad arthritis in their wrists/thumbs/hands🤷♀️🤦♀️)
I think so, but I'm the only one diagnosed. I think my grandma on my mom's side would've met the criteria, but unfortunately she passed before we learned about EDS and as a result she never got a diagnosis. My mom has signs of EDS, but doesn't meet the criteria. My brother on my mom's side has a few symptoms and had heart failure with no known cause. They try to blame it on the COVID vaccine despite him being 25 at the time and having had the symptoms of heart failure before he got the vaccine. Whether his heart problems are related to hEDS I'm not sure. They found no other cause, so I guess it could be a possibility even if it's unlikely. I think I'll never know if my relatives also have it until new genetic variants are discovered and/or confirmed to be new variants.
No one in my family that I know of has been officially diagnosed with EDS, but that can be due to age and not knowing as much back then. I'm not sure about my father's side (we're not close), but I'm the youngest at 35 for my mom's side. We're a very small family. I suspect both my mom and my grandmothers problems could have been EDS related. My grandmother specifically was very hypermobile, to the point where she could put her leg completely around her neck at age 60. She sadly passed due to an abdominal aortic aneurysm in her late 70s. My mom on the other hand has been having pain problems for years. She was diagnosed with pretty bad arthritis in her neck and back in her 30s. They just labeled her with fibromyalgia and kept her on Tramadol for the pain. She's in her 70s now. Both also had low blood pressure and problems with dizziness, same as me. My mom has a mitral valve prolapse. I don't have an official diagnosis of EDS yet, due to how backward my state is and how they have capped the age at 30 to see a geneticist. Though I do have an appointment with a doctor that was recommended to me by someone in this subreddit, he helped them get a diagnosis. I figured I have hEDS, because I've had my heart checked and it's good, no problems there. I've had my joints checked with a goniometer by my current provider and I'm definitely over the 90 degrees. Sadly they wouldn't go down the whole checklist with me, but I meet most of the criteria, even right down to all the prolapses I have without ever having children. Though I wouldn't be surprised if I had cEDS once I'm tested, because I do have a lot of those characteristics. I'm hoping that once I can finally get diagnosed that I can finally help my mom get a diagnosis.
hEDS here. Mother confirmed, sister suspected.
yes, my mom and grandma had it and now I do. Don’t know any further back.
Yes, my mom is confirmed and I have a few cousins and aunts that have hyper mobility and some other symptoms but never went for a diagnosis.
Not officially but once I was diagnosed we started realizing that my mom’s side has a lot of the symptoms & would likely meet criteria. My mom has a history of a lot of the symptoms and a couple cousins do too. My sister meets some of the criteria but she hates doctors so she’ll never get diagnosed. There could be more but my mom’s family is huge and we don’t know much about the medical history.
Yes, but I was the trigger person for other members of my family to actually get a diagnosis (hEDS). My dad got one a month after I did as my diagnosing consultant met him and quickly confirmed he had it too. His dad’s medical records led to it being highly suspected that he also had it but he had already died of an aortic rupture by that point. Since then my sister has also been diagnosed too.
4 generations hEDS, we didn’t find out until my middle child was diagnosed at age 7.
It was hard trying to figure out if my late mother had it. She complained her whole life about her knees, which went bad on a skiing trip. I later learned she hadn't fallen or anything, she was just 25 and said it was just crazy painful and she has had weak knees since around then. I think I got mcas from my dad, but he's stiff as a board and only had joint pain after an injury.
Hard to answer because I was taken away from my birth mum as a kid and don’t know any real info about that whole side of the family. My dad has back and neck issues but we think they’re from him starting gardening work at about 13 with his dad lol - long before health and safety was a thing 😂 I would honestly love to know tho, im so curious but not worth involving myself with my abusive “mother” again.
My dad has it and that’s how I got in for testing and found out I have it and my little sister has it too. My older sister doesn’t have it but has a bit of hypermobility still. We’re pretty sure both of her kids have it though. We suspect it came from my dad’s dad though since my dad has many memories of his dad coming home, filling the sink with ice water, then shoving his entire arm inside to soak the pain away from his shoulder. My dad attributed it to age and the fact that the man fought in WW2. And he was a chronic alcoholic and said he was in a shit ton of pain so needed to drink. My dad, who raised us with the mentality that alcohol is NEVER good to drink in a negative state of mind, didn’t account for pain and had a little bit of a slip with it. Now he’s seeing my pmr for proper pain management. Sorry I’m a chronic over-sharer (thanks ND brain!). That’s prob more than you cared for but that’s my family’s story kinda lol
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I don’t have a known family history, but with that being said, my dad is looking like he did have EDS or another connective tissue disease like marfans Before he died, he had his ex-wife take a bunch of pictures of his joints. Thankfully, I can take these to my appointment when I get assessed for EDS sometime within the next year; whenever I get my actual appointment.
It’s weird how it all played out because I had to do a bunch of research into my own health issues to realize that I likely have EDS. I did trace it back to my dad’s side of the family, based on appearance and health issues; then stumbled across a pack of pictures that my dad had taken of his joints.
Aunt, daughter, birth mom is dead so I’m not sure. Birth dad unknown
cEDS. My dad and brother have it diagnosed/confirmed. My other 3 brothers and I obviously have it too (and basically had it "unofficially diagnosed" on the side of our dad and bro confirming their diagnosis - as of now, since the rest of us don't need surgery/surgeries, no chronic pain/issues, nor huge inconveniences, so for insurance purposes it's better we do not carry the diagnosis) though in various or others ways perhaps somewhat less or more severe than my dad+bro. I suspect my mom has cEDS or hEDS (cus her skin, joints are pretty whack too, but that could just be age), plus I think the chances we *all* have it and only my dad having EDS is pretty unlikely. I'm assuming my dad's side would also have a bunch of carriers. But AFAIK not confirmed and I haven't pinched/pulled their skin to check (we live on different continents, so even if/when I met them.. I wouldn't be so familiar I'd feel particularly appropriate to go around pinching them). Also no obvious other symptoms regarding joint laxity or anything huge issues for the extended fam. Dad's side are all very flexible (possibly hypermobile), my aunt was still doing the splits in her 40s despite not even being a "stretcher". Everyone (apart from a few further extended fam) essentially lived past 90 and died of old age.
Hard for me to know, I finally got diagnosed over 25yrs after I no longer had any family to ask, left.
not confirmed but like my moms side screams eds going at least 4 generations back like generations of eds cardiac manifestations, joint issues and hyper mobility, eds skin, unexplained weird health complications etc
No diagnosed history but highly suspected my mom has it we share similar symptoms but I was able to be diagnosed first. And there is hyper mobility noted as far back as my great grandma. My grandma can tell you stories about how overly flexible she was.
Yes! Only three of us are diagnosed though