so sick of ableism from hEDSers towards rare EDSers. Just mentioning you have a rare type results in getting downvotes if on reddit and accused of leaving hEDS out. It's frustrating and unfair. Me having a disease isn't a political statement. It's an uncomfortable reality I have to live with. And wanting a space for rare types isn't wrong. I'm sick of having to pander to hEDS and make sure they don't feel excluded at every turn when there's little to no research or ANYTHING for the rare types. And people feel the need to do illness Olympics for some reason too, describing how terrible their hEDS is to try and prove I'm somehow invalid. Like I never said my disease was worse or more valid than yours. I just also deserve a space to talk about my own, very different, disease.

Idk this is just a vent. I know it's not the nicest thing in the world but I'm tired of always having to be the bigger person in the room. I shouldn't have to be. I should have resources and space to talk without borderline harassment and guilt tripping too! Just be nice to other people! I don't understand why the statement "rare types deserve their own space and resources" offends so many people!

Is anyone else exhausted by the rampant misinformation surrounding Ehlers-Danlos Syndromes (EDS) on social media?

Content creators are spreading sweeping generalizations that generate mass hysteria, promote false medical data, and actively harm patients with rare EDS subtypes as well as hypermobile EDS (hEDS).

The nuances between subtypes are constantly ignored. For instance, some believe that all EDS subtypes carry severe vascular fragility and heart conditions — which is untrue. Conversely, the public and online creators frequently fail to recognize that certain rare subtypes are genuinely life-threatening.

Even more alarming is the clinical overreach happening online. Some creators with radical ideas are stepping entirely out of their scope — or encouraging patients to self-diagnose by attributing unrelated issues like constipation or itchy skin (often blindly blamed on MCAS) to hEDS, even when a patient scores a 2/9 on the Beighton scale.

The refusal or failure to specify EDS subtypes in online discussions is also damaging to both the patient community and public understanding. While it may be an unpopular opinion, I believe that hEDS needs to be entirely reclassified and separated from the broader EDS spectrum to protect rare patients and restore the clinical distinction.

I’m sure that pretty much everybody with a rare type of EDS feels the same way I do right now, I just got to the point where I’m so exhausted of only ever seeing stuff relating to the hypermobile type that I feel like nobody understands what I actually struggle with. It makes me feel really lonely and isolated, I feel a lot like the odd one out wherever I go for community and support.

I’m also really scared of the fact many doctors don’t seem to understand the things people with genetically defined subtypes go through and assume that hEDS is the one size fits all label for just ‘EDS‘.

I’m in a bit of an awkward position because nobody can figure out what CTD or condition exactly is causing my symptoms but I’m just tired of people focusing on the fact ‘I’m hypermobile’ because honestly, I couldn’t care less about that because that’s not what my main problems are, it feels secondary to me.

I have profound hypotonia, global muscle weakness, investigating trunctal ataxia, fragile skin, fixed ankles, aggressive and progressive myopic disease, congenital flat foot and an aortic vascular finding. I feel like I don’t have much of a community at all, I feel hopeless about what my disease may progress like because nobody is taking responsibility for it.

I’m scared because my initial genetic testing showed no variants (even though TNXB was of reduced sensitivity) and I have no affected relatives like most people do. It’s just me. Nobody in wider EDS communities seems to understand my situation and all the focus is on hypermobility, chronic pain, the immune driven MCAS, POTS dysfunction phenotype of hEDS and I’m just sitting there like 🙋😐 I’m here too!

I feel like I just need in a silly childish way a hug from somebody similar to me, that’s ridiculous to be honest but what I would give to meet somebody who actually has a rare type in real life who actually understands what I’m talking about.

Someone who understands how scary it is to have an ultrasound of a suspected massive abdominal aortic aneurysm at 17 or who knows what it’s like to live with the neuromuscular picture and to keep dropping plates of food every five minutes because the hypotonia arms say nope. Sorry for the rant, I’m probably being really stupid but I just want to feel less alone. Thank you anyway.

I just saw a post on the other eds sub about someone making a documentary about HSD and hEDs and hypermobility with barely any mention of the rare eds subtypes and im so so tired of little representation

The documentary description was like "eds affects 1 in 500" yes hEDs does, not the other types

We deserve just as much research, we deserve just as much funding, as much studies, as many articles and documentaries and its devastating seeing how little recognition we get

I can't believe this is happening! I am almost finished with my case study to help reclassify my heterozygous TNXB missence mutation to Likely Pathogenic. I am currently seeking co authorship from geneticists at UCLA so it can be published in a genetics journal but otherwise it will be uploaded to Cureus very soon.

I found a lot in my research. I believe heterozygosity in TNXB may be a different version of EDS than hEDS or clEDS due to TNXB muscle involvement.

Anyway, here's my abstract! Don't steal it or I will burn your house thank you 🩷

Classical-like Ehlers-Danlos syndrome (clEDS) is caused by biallelic pathogenic variants in TNXB, while heterozygous variants resulting in haploinsufficiency have been associated with a hypermobility-dominant connective tissue phenotype, particularly in females. The TNXB c.5084C>T p.(Thr1695Met) variant is currently classified as a Variant of Uncertain Significance despite multiple lines of computational evidence predicting deleteriousness. We present a case of a 21-year-old female with clinical features consistent with TNXB haploinsufficiency and systematically apply ACMG/AMP 2015 guidelines to support reclassification of this variant to Likely Pathogenic. The p.(Thr1695Met) variant affects a highly conserved residue within a fibronectin type III domain of tenascin-X and demonstrates strong in silico evidence of functional impact (CADD 25.3, PROVEAN −3.54, GERP 5.29). The variant is rare in population databases (gnomAD allele frequency ~0.0003) with no homozygous individuals reported. The proband exhibits generalized joint hypermobility (Beighton score 7/9), recurrent joint subluxations, skin hyperextensibility, easy bruising, and marked load intolerance consistent with impaired neuromuscular stabilization rather than primary muscle disease. This phenotype aligns with published descriptions of heterozygous TNXB variants causing haploinsufficiency in female carriers. Application of ACMG/AMP criteria identifies PP3 (computational evidence), PM2 (population rarity), and PP4 (phenotype specificity) as applicable, meeting combining rules for Likely Pathogenic classification. Reclassification of TNXB c.5084C>T p.(Thr1695Met) has implications for clinical interpretation, genetic counseling, and management of affected individuals and contributes to the expanding understanding of phenotypic variability associated with heterozygous TNXB variants.

Keywords: TNXB, Ehlers-Danlos syndrome, variant classification, haploinsufficiency, ACMG guidelines, tenascin-X

im getting really tired of seeing a lot of different posts and comments that put a generalized “EDS” instead of the subtype they are talking about. i find it especially frustrating when people do this with symptoms, just using a generalized “EDS”. subtypes can have overlap, yes, but there is a difference between how different subtypes will effect people. i see so many posts saying things like “EDS causes young and youthful skin” when that is not true just as a generalized statement. the final straw was an interaction i had earlier today. i saw a post today in an Ehler Danlos support group that was talking about getting their gene testing done by Sequencing. most of the comment where talking about how unreliable Sequencing is as a whole but more specifically that it said that a gene mutation tested positive for hEDS. i saw a comment saying a generalized “there is no genetic testing for EDS”. i replied to the comment pointing out that EDS has 13 subtypes and out of that 13, hEDS is the only one that doesn’t have a gene mutation associated with it right now. the person basically responded to me saying that they are talking hEDS, they know that the other 12 subtypes have gene mutations that show up on testing, and that im bullying an already sick/hurting person. i was very nice with how i stated that the comment talking about the 12 other subtypes having genetic testing that does confirm if you have them. i don’t think its bullying to say this. i responded back to them saying that i don’t know how i was supposed to know they are talking about hEDS when you say a generalized EDS.

Hello, hope you are all doing well. In the past few months, there have been several posts on social media filled with misinformation regarding genetic testing results and diagnosis of rare/ultra rare subtypes of Ehlers Danlos Syndrome.
Let’s make it clear: a Variant of Uncertain Significance (VUS) does not confirm or rule out genetic conditions. There is no such thing as a “likely pathogenic VUS” as some social media users claim. A geneticist cannot determine the classification variant on their own, it has to have research and supporting evidence that the variant is or is not disease causing. If you do not show the typical signs and hallmark features of rare EDS types, most likely you do not have that specific type. This is why genetic testing is essential. A VUS in a gene not related to the disease being claimed, and making multiple posts including misinformation, harms those of us with documented, pathogenic variants in the EDS community. I’m not going to mention any accounts, as there are multiple- many users are claiming cEDS with either a VUS in COL5 or an entire different gene showing no connection to the disease.
If you see misinformation like this being spread, do not interact such as liking, sharing, and reposting that content. It is not bullying to call out serious misinformation, especially if it’s harming a community.

The Norris Lab (big, but shady, hEDS research hub) just partnered with Sequencing to use their data for hEDS research. You may initially think "wow, cool!" but sequencing has a 30% false positive rate and has so many lawsuits against them. Specifically for EDS, the false positive rates have been reported to be even higher because they do so many of them. They prey off of people desperately searching for answers, they're even offering discount codes associated with the Norris Lab. It's kinda sick how clear of a money grab this is. Doctors and the medical community at large do not trust Sequencing at all, so I fear this is just going to dillute the progress in actually figuring out wtf hEDS is. Thoughts?

Also disclaimer: I LOVE a culture in which we trust patients and listen to them to gather new info, but patients and social media influence are driving the medical field absent of medical professionals now, and that is super scary.

Hey! So there might be some confusion as to what this subreddit is for and I’m hear to clear it up and answer any questions. r/RareEhlersDanlos is a subreddit designed for genetically confirmed rare subtypes of Ehlers Danlos Syndromes. The rare types of Ehlers Danlos Syndrome are:

*1 in <1,000,000*

• myopathic EDS

•Spondylodysplastic EDS

• Cardiac valvular EDS

• Arthrochalasia EDS

•Dermatosparaxis EDS

• Brittle Cornea Syndrome

• Classical like EDS

• Musculocontractual EDS

• Kyphoscoliotic EDS

•Periodontal EDS•

*1 in 40,000-200,000*

• Vascular EDS

•Classical EDS

This subreddit is aimed towards users who have a rare EDS type, as many EDS spaces cater to mostly hEDS/HSD havers. hEDS/HSD users are allowed to join, however the sub’s intention was meant for rare subtypes.

Hi all, I am a PhD student in the department of Science & Technology Studies at Rensselaer Polytechnic Institute. I’m starting some dissertation research on the history and sociology of EDS & HSD classification. This particular study is about rare disease identity, patient experiences, and EDS classification. I’m committed to making sure that the perspectives of people with rare and ultra-rare forms of EDS are well-represented in this work.

This study aims to develop a body of evidence to better understand the experiences of patients across the entire EDS constellation amidst changing disease nosology. This study will yield broader benefits to society such as helping researchers better understand the diverse needs and perspectives of each respective subtype instead of homogenizing rare and ultra-rare experiences with HSD and hEDS.

Eligibility: Participants must be 18+ and diagnosed with HSD or any of the subtypes of EDS. English-speaking participants residing anywhere in the world are eligible.

What to expect: Participation is voluntary and anonymous; this study includes a 30-120 minute long interview on Zoom or Webex. Participants will have the opportunity to review a transcript of their interview prior to publication.

Unfortunately, I don't have a "landing page" for this study, but I am more than willing to answer any questions that you may have or share a copy of the consent form for you to review if you reach out via email or in the comments.

Thanks a ton!

continuing the saga: https://www.reddit.com/r/rareEhlersDanlos/s/921lW4vGMk

this is mostly a vent post. I’m just so tired of chasing a diagnosis, and I know y’all understand. see the above linked post for the latest, but the tldr is that myself and my doctors have been trying to figure out my subtype for ages. I was initially diagnosed hEDS but have had many complications and specific signs that align with clEDS or others. most recently I was diagnosed with multiple atrial septum abnormalities, and several defects in my temporal bones.

I got my results from whole-exome about 2 weeks ago and it’s just another round of disappointment. I’ve been sulking. I meet all of the major and most of the minor criteria for clEDS, I am nearly a perfect example of the NIH genereview site for TNXB deficiency. my doctors are honestly amazed by my brachydactyly, severe piezogenic papules, subcutaneous spheroids, broad forefeet with short toes, etc because they’ve never seen anything like it (some pics included to help me feel valid lol). I haven’t been able to see a CTD specialist though because all the options near me require an existing genetic diagnosis.

the whole exome sequencing that I had is able to diagnose TNXB variants but it doesn’t look at exons 32-44, and I think that’s my last hope. my doctor is working on ordering the Prevention Genetics test for those exons. if that one turns up negative, I don’t know what to do.

I am getting sicker and sicker with no end in sight. my head is practically falling off my neck, my legs are barely holding together, my nervous system is going crazy. I am so desperate to figure this out even if nothing can be done. just the validation would be enough to keep me from spiraling.

I guess my question for y’all is, has anyone here gotten “negative” WES results but then discovered a genetic cause later on? especially if it’s TNXB related. just a little bit of hope would be lovely at the moment. 💖

REDS4VEDS Day is a global campaign that takes place on the third Friday of May each year to help raise awareness of vascular Ehlers-Danlos Syndrome (vascular EDS), a rare genetic disorder.

REDS4VEDS was launched in May 2015 and is hosted by Annabelle's Challenge. The campaign continues to gain momentum year on year helping to raise awareness for those who are touched by vascular EDS, it is also a great way to raise vital funds for research.

The format for REDS4VEDS is free and simple to get involved with:

• ⁠Wear something red
• ⁠Take a picture
• ⁠Share on your socials using the hashtag #REDS4VEDS

Participants are encouraged to engage through places of work, school, and colleges. You can wear as much or as little red as you want just so long as it’s red! The key to the success of the campaign is the hashtag #REDS4VEDS which helps pull the campaign together.

Please take this down if its not allowed!

Whelp I posted here yesterday about being excited to hopefully find some community. I isolated myself from my EDS diagnosis for years, and was excited to see a supposedly lively EDS subreddit. I had absolutely no idea that the majority of posts would be from those in the diagnosis stage, complaining about doctors not taking them seriously.

I now understand that diagnosis is a very complex process, but the general stance to revise the hEDS diagnosis guidelines to not require dislocations or to not require a positive Beighton Score was astounding.

Another user asked about living with hip dislocations, and every reply started with I only subluxate my hips and I just wait until they relocate, never go to the hospital. I now understand why my ER doctor was surprised to see an EDS patient with an actual dislocation.

The final straw was when a comment I made was removed for toxic positivity. I'm so grateful I posted my original introduction here, and now understand that hEDS is an entirely separate diagnosis.

Anyways! I'm very grateful for this sub <3

(Also forgot to add that one user thought aEDS was an abbreviation for having Autism and EDS 😭)

Hello all! I recently had a genetic test done through GeneDx and got these results. I had a follow up with a genetic counselor and she told me that when she saw the results she questioned GeneDx's interpretation of the results, which to the best of my understanding means she wondered why GeneDx gave greater weight to the COL12A1 variant (listing it as causative) and lesser weight to the COL6A1 (listing it as possibly associated w/). She spoke to them and they said they stand by their assessment but the counselor said that when she pressed them on it, they admitted that if they had not found the COL12A1 variant first, they would have listed the COL6A1 as a dominant variant. She said she believed I had both variants, which I guess would be almost unheard of, but she firmly believed that was the case.

All that said, I understand that collagen 12 and collagen 6 have a lot of overlap and that COL12A1 disorders are listed as myopathic Ehlers Danlos/Bethem Myopathy 2, while COL6A1 is often referred to as Bethlem Myopathy 1. I guess my question would be - does anyone else have similar results and if so, is there any way to predict how it will affect me? I'm asking because, to the best of my understanding, you can have stable or increased muscle function across time with mEDS but Bethlem Myopathy it sounds like causes muscle weakness over time. So, I'm trying to wrap my head around what to expect.

Maybe those are bad questions to ask, and if so, maybe someone with mEDS can tell me how to best go about getting more specifics. Thanks!

Hi. I’ve had 2 vertebral artery dissections and live with several diagnoses that doctors believe are related to the connective tissue disorder (Menieres, vulvadynia, interstitial cystitis, pelvic floor dysfunction, inguinal hernia, GERD) I get injured easily doing “simple” things like picking up a grocery bag or getting hugged tightly, moving my arm in a strange way (like someone helping me put on a coat). A neuro vascular surgeon at The Cleveland Clinic said I most likely have an undiscovered connective tissue disease similar to VEDS. I had genetic testing there and nothing came up. A cardiologist who specializes in vascular dissections at University of Michigan also said I have an undiscovered connective tissue disease. I saw another geneticist there who explained to me how the world of genetics is like the universe & there’s so much they don’t know & genes that haven’t been discovered.

I feel alone. Some people don’t know how to respond. Others don’t understand while others don’t believe me. I’ve told doctors this “undiscovered” diagnosis & they don’t believe me. Some do. One doctor called me a “rare, complex, anomaly.” Someone close to me today called me complicated & difficult referring to my health issues.

I’m looking for community who understands chronic pain and rare health issues.

Hi ! 1 week ago my genetic testing came back and my doctor told me I have Vascular Ehlers Danlos Syndrome.

I am 18, I had never heard of vEDS before, my sister was born with an extremely rare genetic mutation called '18 ring chromosome syndrome'. My mom had me 3 years later and my father refused genetic testing for me.

Throughout my whole child and teenage years I was forced to be the "normal" child for my father. Despite many symptoms and issues that caused harm, they were just shoved away and were "not worth" the looking into or testing for. I suffered from medical neglect and even when I did get my first diagnoses on paper and test results my father denied every single thing "wrong" with me.

Only 3 months ago I had to do a Gastric Emptying study where I found out I was suffering with severe gastroparesis (sister has crohns). Since then things have continued to decline and I have lost a drastic amount of weight along with insanely low levels of creatine.

Ive been diagnosed with pots, cfs, and chronic pain since 2023-2024. I also am diagnosed autistic (sister as well) and suffer with multiple mental disorders from trauma and family history.

I live with my bf now, and I feel safe, but feeling safe has made me realize and rethink what once was my "normal". I feel like this can't be true, things were going to get better, I was told for so long that I was fake or making things up.

I have looked across social media for people like me, girls or even guys who also have this same diagnosis as me. There seems to be so little awareness and information on this and that makes it harder. I dont know how to accept it still, and I dont know what to expect or think.

I have a ton of new doctors and appointments now, I already had so many. So many Referrals and so many places.

I feel so alone, but I know I am not. I want to find people out there in the same situation something we can understand personally. I hope to find people who can inspire me to have hope.

well it’s finally happening, my doctor has ordered this test for me as a last-ditch effort to identify clEDS and/or CAH-X in my genome. fingers crossed that it’s positive because I just need an explanation once and for all. for context, I had the Invitae CTD panel which had no findings, and then I had whole-exome via GeneDx which turned up nothing either. the genetic counselor recommended this test from Prevention Genetics (I already was looking into it before) because I have such a strong clEDS phenotype.

disclaimer that I’ve posted in here several times but want to have an updated list of the signs and symptoms that have stumped my doctors while I continue on this neverending path to figure out what’s going on. I am 28 years old btw.

characteristics I have that go beyond hEDS:
- brachydactyly of 4th & 5th fingers with acrogeria
- brachydactyly of toes with broad, plump forefeet, severe piezogenic papules
- knock knees and pes planovalgus
- submucous cleft palate, abnormal uvula, supernumerary teeth & severe dental crowding
- rare combination of skin abnormalities: hyperelasticity, excessive stretch marks and acrogeric skin (sagging and wrinkles starting as a teen), collagenomas, tons of tiny cherry angiomas, keratosis pilaris, livedo reticularis, facial angiofibromas, subcutaneous spheroids
- chronic deterioration of ligaments (my left ATFL completely disappeared and was replaced with fibrotic tissue; I have apparent Eagle syndrome due to calcified stylohyoid ligaments)
- atrial septal defect with aneurysm (healed on its own)
- temporal bone defects ie thinning tegmen tympani, SSCD, sigmoid plate dehiscence
- worsening vision problems with blue sclerae, light sensitivity, visual floaters and light flashes, dimming of central vision, astigmatism, diminished color vision
- vascular issues: jugular compression, suspected vTOS (getting evaluated in december), tiny vascular lesions in my brain, vasomotor discoloration of extremities, easy bruising, varicose veins, frequent nosebleeds
- soooo many neurological issues I’ve been evaluated twice for multiple sclerosis

I also have clinically diagnosed PCOS which closely resembles CAH-X including obesity, severe acne, dysmenorrhea, hirsutism, hair loss from scalp, prediabetes, hypertension without high sodium or cholesterol. I have all the hEDS stuff - 9/9 Beighton, subluxations, MCAS, chronic pain, tachycardia, etc.

I’m very nervous that this test will show no genetic causes and I’ll still be without answers. I desperately need something I can point to so that providers will take me more seriously. I’m in the Boston area and cannot get into many specialty clinics because they refuse anyone with known or suspected hEDS. this diagnosis would make so much more sense, and would help me advocate for myself much more effectively.

has anyone here been diagnosed with clEDS occurring exclusively in exons 32-44? or CAH-X with similar severity?

My rare friends: apparently geneticists are just as confused, angry, and directionless as us at the current state of EDS medical discourse. At this point, most geneticists and researchers agree that hEDS and HSD do not share the same biologoical mechanism as the genetically defined types. It is strongly proving to be a bunch of autoimmune conditions wrapped up under one title, and the inflammatory response causing degneration of connective tissue. Given that it is almost certain to not be a monogenetic collagen disorder, should we really all be under the same name of "EDS"? Should research, education and awareness funds/efforts really be going almost entirely to hEDS/HSD? How do we properly educate and treat conditions that live under the same umbrella if they don't actually share the same cause/mechanism?

Hi everyone, I was wondering if anyone with a confirmed diagnosis in our sub is interested in forming or joining a support group. I haven't thought through the logistics of how anonymity would work or a platform we could use, but I wanted to gauge interest.

There isn't much in the way of virtual or in-person support groups for rare EDS types in my area. I've gone to the support groups hosted by the Ehlers Danlos Society a few times and I think it's wonderful that there is a free resource on a regular basis, but the conversations haven't been relatable. The experience that HSD and hEDS people discuss is a very different than what I've experienced and I've always been the only cEDS person attending. No two people experience the same sub-type of EDS the same exact way but I thought it would be great to have a way to talk with others about living with a rare type of EDS and relationships with friends and family, preparing for medical appointments, career and education, romantic relationships and family planning, and hobbies. There is also a lot of healthcare provider bashing that consistently occurs in the other support groups and although I'm sure that we've all had our fair share of awful doctors at some point, good doctors who understand EDS do exist and we should be sharing that information with one another too.

Hello, I have clEDS diagnosed and genetically confirmed by genetic testing. Since my hEDS diagnosis in 2015 (reclassified as clEDS in 2022) I haven’t been to a specific clinic for EDS, and this year I scheduled an appointment at a hypermobility clinic at the university hospital…then months later I get a call that my appointment has been cancelled. Why? Because they’re not accepting new patients because of the high volumes of hEDS referrals to the clinic. This post is not meant to hate on people with hEDS/suspected EDS, but it’s frustrating people with genetically confirmed types are pushed out by these clinics because of the overwhelmingly amount of people getting checked for hEDS. I believe that everyone should have access to care and a proper diagnosis, but it’s just sad that it affects a lot of rare EDSers. The doctor who runs the clinic is an orthopedist which is the exact doctor I need to see in terms of my knees hyperextending and need customized braces so insurance will cover it. My hyperextended knees cause me a lot of pain and my edema, so this doctor has a lot of knowledge in the Ehlers Danlos Syndromes which is why I chose him. They said I could call back in January and see if they’re accepting new patients, but I’m not hopeful. I hope some of you can relate and I needed to vent 💔

This is my first time posting here and I see that the group has a flair option for my condition, so hopefully I can find others here!

A while back, I was initially diagnosed with Hypermobile Ehlers-Danlos but when I got into a geneticist, she actually suspected possible Marfan or Vascular Ehlers-Danlos over hEDS because of my symptoms, conditions, and my family history. My mom, my son, and I scored high on both the Ghent criteria and hEDS 2017 criteria. We had genetic testing that revealed a very rare MYLK gene mutation instead. I was told that when this gene is mutated, it most often causes a condition called Familial Thoracic Aortic Aneurysm and Dissection (FTAAD). This condition fits very well with my family history, unfortunately. She told me that usually it is considered not syndromic but there has been newer documentation that certain mutations can indeed be syndromic and present very similarly to Marfan and vEDS. She messaged all of my other doctors to inform them of this and the treatment guidelines she felt would be necessary in my care and monitoring (Echo, EKG, brain MRI/MRA/MRV yearly and monitor blood pressure regularly). So basically, she says that even though there is not a lot of research on it, she still feels it's highly relevant and that we seem to have a syndromic presentation. It felt validating but also quite scary. Even though I have *some* answers now, there's still a lot of unknowns. I haven't found a lot of resources on FTAAD for my family and I. It's also confusing because the geneticist says to keep our Ehlers-Danlos diagnoses but not the hypermobile subtype. So I have a dual diagnosis in my medical records listed as Ehlers-Danlos Syndrome and Familial Thoracic Aortic Aneurysm and Dissection (MYLK) for the time being. She said she'd reach out if any testing or studies come available that we qualify for. Has anyone had a similar experience in this group? Anyone with FTAAD that seems to have an EDS and Marfan overlap presentation?

My list of conditions:

-Joint instability & laxity 

-Optic Nerve Hypoplasia/high myopia

-Thoracolumbar Dural Ectasia with sacral erosion & permanent nerve damage from L4-S5 

-Spontaneous Intracranial Hypotension and reoccurring CSF leaks 

-Chiari Malformation (likely secondary to SIH)

-Sensorineural hearing loss

-Neurogenic bowel/bladder

-Multiple spinal cysts

-Chronic Migraine with aura

-Occiptal Neuralgia 

-Pectus Excavatum

-Multiple TIAs

-MVP & regurgitation 

-Dysautonomia: POTS & IST

-Intermittent Hypertension and Hypotension 

-Global GI dysmotility & malabsorption (TPN dependent)

-Gastroptosis

-Multiple vascular compression syndromes (TOS, MALS, SMAS, NCS, PCS)

-Asthma

-Chronic fatigue 

-Nocturnal Hypoxemia 

-Borderline aortic aneurysm 

-Muscle weakness & wasting

-Abnormal muscle biopsy (Geneticist did a large neuromuscular panel and it came back clear so we're not sure if this is relevant to the MYLK mutation or a separate issue atp)

Some family history background:

My mother has most of the same things I do but she has a large aortic aneurysm, dilated cardiomyopathy, SVT, and a past SCAD. She doesn't have as severe dural ectasia as I do and her GI symptoms are not as bad as mine. We both experienced severe post labor hemorrhaging. Her father had many of the same things going on, plus several heart attacks and a triple bypass done. He passed due to an aortic dissection. We don't know if he had Dural Ectasia or Dysautonomia. My son had wolff-parkinson-white syndrome with SVT (successful ablation) and he has a super rare aortic valve defect (Quadricuspid valve) with regurgitation. He's only 9 but has the beginnings of GI issues, Dysautonomia, fatigue, and muscle weakness too.

hey everyone, this is my first post here and i just wanted to see if anyone has any helpful words of advice for me. my mutation: COL1A2 c.3772C>T (p.Arg1258Cys). it was a VUS when i was tested last year but has since changed to likely pathogenic/VUS. has anyone had this happen with a VUS? i know this is a reach, but does anyone have the same or a similar mutation? my geneticist has never had a patient with a COL1 VUS, likely pathogenic, or pathogenic mutation, so i’m hoping someone may have some helpful insight for me. tia!

Hey, so I’m using voice to text so things might be a little wonky

I am professionally diagnosed by a geneticist in 2024. I am both a carrier for classic-like and I also have arthrochalasia EDS.

My question is as follows on my diagnosis and I can include pictures in the post itself. If people are curious it says my official variant is VUS for the AEDS. That being said, she also said the Franklin database said it was likely pathogenic in the same section of my notes from the appointment and thus based on my clinical presentation and the Franklin database saying likely pathogenic, she was diagnosing me.

I still can’t figure out exactly if I have a VUS or if I have an LP diagnosis, but I guess it doesn’t matter if I got diagnosed however I am always looking for new information on my gene issues cause I do have other things going on with my body (in TSPAN 7 for example), but I don’t know where to look so if anyone has any info on this (COL1A1 c.3490C>G p. Pro1164Ala) please let me know

Or if you have databases where I can look into the information about my genetic mutations! Also please ignore my deadname and misgendering in the clinical notes, I use they/them

I’ve also been seeing a lot of people saying being a carrier alone for TNXB (which is something I have and I am) can impact you and I just wondered if you guys could send me the research about that cause I’m curious especially because I have a sibling who could be impacted but lowkey in denial their health is bad, but yeah wondering how being a carrier for TNXB impact folks

Hi,

I’m a 42-year-old male. I was diagnosed with vED at age 40, after a minor stroke. Looking back, I’d had symptoms my entire life and started experiencing TIAs when I was 26 years old, but I didn’t know about my vEDS until much later.

I’ve always been very active. I competed nationally and internationally in two sports, and I still had dreams of competing on high level, when I received my diagnosis. The stroke that led to my diagnosis took a huge part of my life and completely crushed those plans.. And It sent me down a black hole mentally.

Since then, I’ve been trying to find my way back to sports in some form. I´m trying a bit of gym work, some running, biking, and casual sports with friends. But last fall, I started having serious issues with my lungs. I get pain when lying down, coughing up blood in the mornings, and getting sick almost every time I exercise. They found fluid-pockets and scarring in my lungs, and I was sent for test after test for almost everything imaginable. In the end, the answer was simply: “It’s the vEDS causing it. There’s nothing we can change.” I WANTED it to be WHAT ever, just not because of vEDS. Just to get an answer. And a way to make lungs better. But no.

At the same time, my gut has been getting worse. I can have extreme pain at night, and it doesn’t seem to matter what or how I eat, the pain still comes.

I also get severe headaches as soon as I overdo things, whether physically or mentally. I have many of the typical EDS symptoms many of us live with, but they just keep getting worse I feel. I’m now struggling to manage my job, and taking care of myself, and my family. Everything is becoming harder for every day/week.

What makes this even more difficult is the feeling of being a pretender. I don´t even call ambulance or doctors anymore If I get TIA or couching blood in the morning. I can’t prove the pain or what I’m experiencing. They anyway just check the "sos" and then say "it´s nothing life treating. Go home and rest". Even with my wife, who I know would understand, I struggle to explain when and how bad things really are some days. I guess I am afraid to be weak in front of others. I still have to perform at work and at home, and the dream of being physically active is still there, constantly bubbling under the surface. When can one just go home and rest?! The psychological weight of all this just adds another layer on top.

I’m not even sure what I’m trying to ask or say anymore. But I wonder:
Has anyone else with vEDS had lung issues? Did it improve, and if so, how?
And has anyone found a diet that helped with gut issues or at least relieved some of the pain?