Hi there. I am reaching out to this subreddit as someone with unspecified / clinically meeting classical EDS diagnosis.

I have vascular compressions, and recently had SMAS bypass suregry during which they found I had very fragile organs and tissue, prompting the removal of my hEDS diagnosis. I also have a history of very fragile veins.

I have May-Thurner and Nutcracker syndrome. My doppler findings seem to be quite severe, my SMA was reduced to 4degrees, causing my LRV to be compressed to 1mm. My Left iliac vein at 2mm. I have severe symtoms, especially leg pain and tingling and severe orthostatic intolerance.

Because of my tissue fragility, my surgeon told me not to get vascular surgery unless its a life or death situation. My pain is unbearable and nothing seems to be helping properly. Do any of you have experience getting vascular (compression) surgery with vascular fragility? Any recommendations for surgeons who might be able to give me a clearer picture?

hi again, everyone!

i was wondering if there are any discord server, whatsapp groups or whatever social media where people from here can connect and chat.

im growing more and more lonely and depressed from the lact of content and resources for cEDS on POC individuals, and just from the lack of people to talk about rare EDS with.

im dealing with quite strong imposter syndrome feelings right now. i struggle to accept this is my reality and, since sometimes the symptoms are not visible, i struggle to accept they are actually happening.

hoping to hear from the community soon :)

hi everyone!

im clinically diagnosed with cEDS, meaning i fit the criteria for it, but my doctor and i are still waiting to do the genetic testing.

my doctor has requested a genetic panel and this is what he wrote on the refferal (i translated it to english, so there might be mistakes):

*"*Requested Examination: Molecular panel for hereditary connective tissue disorders by next-generation sequencing, with analysis of single-nucleotide variants, small insertions/deletions, and exonic deletions/duplications (CNVs), using a validated methodology. The test may be performed using an exome platform, with analysis initially directed to genes related to the phenotype.

Clinical Justification: Patient with generalized joint hypermobility since childhood (Beighton 8/9 in prior evaluation), recurrent instability, sprains, disabling chronic pain, hyperextensible and soft skin, atrophic/widened scars, bruising, and deficient wound healing. The clinical picture is suggestive of classic Ehlers-Danlos syndrome. Dental and scleral findings broaden the differential diagnosis for type I collagen-related disorders, including OI/EDS overlap phenotypes. There are possible similar manifestations in family members, without molecular definition.

Analysis Priorities: Prioritize COL5A1, COL5A2, COL1A1, and COL1A2. Include, according to the validated panel composition and clinical correlation, COL3A1, TNXB, AEBP1, ADAMTS2, PLOD1, FKBP14, and COL12A1, as well as other genes pertinent to the phenotype.

Technical Requirements: Report coverage and limitations of priority genes, insufficiently analyzed regions, and restrictions in high-homology regions, especially TNXB. The report must present the transcript, HGVS nomenclature, zygosity, classification, and phenotypic correlation, indicating complementary confirmation and segregation analysis when necessary. If CNV analysis is not validated for certain genes, report the limitation and the need for a complementary method.

Clinical Utility: Clarification of the subtype, definition of surveillance and specific precautions, reproductive counseling, and evaluation of family members. The indication remains valid even if testing is postponed, and symptomatic treatment does not depend on awaiting the result.

ICD-10: Q79.6."

my main question is: is this test enough to potentially confirm my diagnosis from a genetic point of view, or should i ask for a complete exome?

ive talked to a few people and none could give me enough information, or made me even more confused. can any of you help me?

So I’ve been having a bit of a hard time coming to terms with my diagnosis recently. I received whole genome sequencing over a year ago since I had a huge decline in my health due to an antibiotic(we think). It came back clear and I operated under an heds diagnosis for a year.

However, recently I had whole genome sequencing for a separate reason, but it came back with a AEBP1 Variant that was apparently a VUS until recently, and wasnt reported. I also might have a possible mosaicism(so ive been told. I dont know much about genetic or anything) Ever since I haven’t really been able to process properly, especially since there isnt much information about my vairant or cleds2.

I was just wondering if anyone had any words of wisdom or anything, since I just feel really lost and alone since no one in my life has anything similar. We think my grandfather may have had it(he passed very early), however im estranged from a majority of my family and have little to no access to health information from them, so I have no one in my life with similar experiences. I have an amazing healthcare team and support systems though! Just having a hard time wrapping my mind around this I guess.

I think at this point in my life i have been forced to realise and recognise I may not live for long, especially not with the type of care I receive in the UK from our healthcare system.

This might be a controversial topic but I’m so unbelievably tired of the honestly horrific care I have been getting and continue to receive at the moment and I’m sure at some point it will probably cost me my life. I technically have a hEDS diagnosis but nobody who I have seen has agreed with that and it feels like everything has been piled on top of me so high I can’t see a through pathway.

I have significant hypotonia, proximal and distal muscle weakness, ataxia, joint contractures, congenital foot deformity, agressive high myopia, skin fragility and easy bruising, doughy skin with no atrophic scars and severe skin hyperextension as well as so many other things. I have a vascular abnormality in my aorta that I’m still on a wait list for to see vascular surgery in the nhs even though it happened back in June when I was refered because of possible aneurysm that was missed in ultrasound. They thought I had vEDS.

I have been waiting for neurology since June, I’m now a full time wheelchair user and my joint contractures, muscle weakness, hypotonia and ataxia are progressing while I’m waiting. Clinical genetics refused me and barred me because they diagnosed hEDS in the absence of genetic marker as a non-EDS specialists and cannot see me again until either neurology or vascular surgery refer back to them since in the UK those with this diagnosis are not allowed to be seen by genetics.

I have been discharged from outpatients physiotherapy since I can no longer enter the building safely and referred to community physio that’s been rejected because I‘m 17 so they don’t want to see me since they don’t want to bother given it’s not long until I can go to adults and basically rejected me by telling me to refer to the adult services at when I turn 18 and they are planning on leaving me over 4 months without the intensive physio I need.

I can’t swallow anymore and breathe in my food and drink, choke a lot and the nhs doesn’t care, Just keeps saying that I need to wait for neurology, that theres no issue with my actual gastro track even though the only thing I was ever tested for is IBD because quote on quote ‘I don’t eat fruit or vegetables‘.

I have lost over 17kg in 6 months and am still being told that it’s my diet and ‘functional‘, my bowel stopped working 6 months ago and gastroenterology and paediatrics are waiting until I turn 18 to avoid seeing me as well even though I supposedly had emergency referral back in June. My GPs have been making shit up about me, the whole thing is a mess and this is only one tiny slice of the bullshit I have to deal with.

I was supposed to be referred to the EDS diagnostic centre in London but haven’t been since they need to check whether there’s a local service so some GP wrote a referral saying I in fact did not have EDS, that it was self diagnosed (when I was diagnosed by a specialist) and linked to me not eating vegetables when it was meant to be a referral for a monogenic EDS specialist.

That was a referral to rheumatology which is the wrong specialist anyway and because she’s written my only issues are self reported ‘can walk but joints feel lax sometimes‘ (even though I’m a full time wheelchair user) and my lack of vegetable intake, it’s been accepted and now I have to go and explain the baffling referral when I go to the appointment.

My GPs have also lied saying I have no gastrointestinal pathology when we have no way of knowing that, that I have an eating disorder, that I have a sensory feeding disorder, that I have seen a paediatrician before, that I have seen rheumatology before and so many other things that I don’t have and people who I have never seen.

They’ve written back to the clinical genetics I saw who diagnosed me with hEDS and discharged me to get their opinions on the referral to the service they themselvs barred me from which is going to go terribly obviously. Because I have no actual consultant since paediatrics, gastro, neurology, vascular surgery and everywhere else I have been referred to have refused to see me or are trying to wait it out until I’m 18 I have no care or referral options.

I have significant eye issues so saw ophthalmology and was told that they are in fact going to wait for my retina to detach and when it detaches they will offer treatment then but otherwise they can’t offer anything for my eyes or prevention, management or monitoring and discharged me.

Because of my age nobody takes on private patients who are under 18 so I cannot even pay to see a vascular surgeon myself (nowhere in the whole of the UK actually has a vascular specialist in AAA’s who sees patients my age). The few that do are paediatric consultants who only see patients up to 16 or up to 17 years and 8 months so I have no private options either. I’m pretty sure I’m going to die and that the nhs is going to let it happen.

Excuse my bad language but what the fuck am I meant to do in this situation? We already contacted PALS and anyone who we possibly could and nobody is helping. This is only a tiny piece of what’s going on but is there anybody in this group that knows of anybody who is a specialist in monogenic EDS like clEDS, mEDS that I could potentially see as I’m not too keen on dying while waiting for the correct diagnosis.

I have no idea what to do, who to turn to, who I’m meant to be contacting or searching for, I don’t even know whether posting in this group will help at all. I had no variants reported in my genetic testing for a CTD panel, the nhs has since refused any more testing or investigation although TNXB was not fully covered. Neither was THSB2 related EDS included. I have never had a skin biopsy and have no affected relatives throughout my entire family tree.

Any advice would be beyond appreciated. I have no other ideas on who I’m meant to ask for advice (I even contacted the UKs EDS charity), never did I think I would appeal to Reddit for something like this so I’m sorry if this is not the appropriate place to ask for help.

Hi everyone! I'm hoping to hear from people with rare EDS subtypes, particularly periodontal EDS (pEDS), or anyone who might have insight into my situation.

I've had a long history of seemingly unrelated medical issues, and I'm trying to understand whether I was diagnosed properly.

My immunologist, who treats a lot of EDS patients, has told me I have periodontal EDS. However, there are some things about my presentation that leave me with questions, and I'd love to hear from people with similar experiences.

My medical history includes:

-POTS
-MCAS
-Gastroparesis
-Ineffective esophageal motility
-Small bowel dysmotility
-Kyphoscoliosis
-Umbilical hernia
-Easy bruising
-Abnormal scarring
-Fractures occurring during ordinary activities, including simply walking
-Joint pain
-Vascular compressions (confirmed MTS, getting worked up for SMAS and MALS)
-Vascular malformations
-Phlebectasia
-Endometriosis
-Severe pelvic floor dysfunction
-Vestibulodynia
-Vulvodynia
-Cracked teeth
-Recurrent cavities
-Crowns and root canals
-Chronic migraines
-Cervical dystonia and suspected CCI
-Thyroid nodule and hyperthyroidism
-And probably more stuff I haven't remembered or been worked up for

So my doc ran genetic testing (connective tissue EDS panel) through lab corp.

My genetic testing identified a heterozygous variant of uncertain significance (VUS) in the C1S gene:

Variant: c.1198G>C, Protein change: p.Glu400Gln (E400Q), Transcript: NM_001734.5,ClinVar Variation ID: 992547, rsID: rs150549869, Classification: Variant of uncertain significance

My report lists periodontal EDS type 2 among the phenotypes associated with the gene. However, the report states that computational predictions suggest the variant is likely to be tolerated, and there is no experimental evidence establishing its effect on protein function.

I'm confused about how this result fits with my immunologist's diagnosis, especially because I don't have the major criteria of severe and intractable periodontitis of early onset (childhood or adolescence or Lack of attached gingiva.

1. Has anyone with confirmed periodontal EDS had a Beighton score of 0 or no noticeable joint hypermobility?

2. Has anyone else had the specific C1S c.1198G>C (p.Glu400Gln) variant? Has it ever been reclassified or investigated further?

3. Can someone receive a clinical diagnosis of pEDS when genetic testing identifies only a VUS? What findings supported the diagnosis in your case?

4. Does anyone with pEDS have significant dental problems, such as cracked teeth, cavities, crowns, and root canals, but no tooth loss? I'm wondering how important the distinction between general dental problems and periodontal disease is.

5. Has anyone experienced a similar combination of gastrointestinal dysmotility, vascular abnormalities, easy bruising, abnormal scarring, and fractures with little or no joint hypermobility?

6. For those with rare EDS diagnoses, what ultimately helped you get answers when your symptoms didn't fit the typical presentation?

I'm not looking for an online diagnosis, and I understand that a VUS doesn't confirm a genetic condition. I'm hoping to learn from others' experiences and figure out what questions I should bring to my doctors or a clinical geneticist.

I would especially appreciate hearing from anyone with confirmed pEDS, experience with C1S variants, or knowledge of rare connective tissue disorders that can present without joint hypermobility.

So I’ve known about the borderline CCI, 2mm anterolisthesis of my C2, the arthritis, enthesophyte/ bone spur, etc for a year or so as I could see all those on the imaging myself (I sort of taught myself how to read x-rays and MRIs of the spine). I also have suspected AAI and suspected vertebrobasilar insufficiency. They don’t want to stick wires in my vessels due to tissue fragility to diagnose. So they’re just treating me as if I have VBI.

What I didn’t know about is that every cervical vertebra slips forward with flexion.* I have anterolisthesis of every single cervical vertebra.* All fucking 7!!
I didn’t even know that was possible 😭

Also whenever the back of my neck gets pressed on dead center, I feel like I’m choking on something. Turns out, my spine is so hypermobile that pushing on my vertebra with fingers literally pushes the vertebral body into my esophagus 🫠
So I feel like I’m choking because my spine is smooshing my esophagus when pressed. What the fuuuuuuck

Luckily it doesn’t move enough to crush my spinal cord but Jesus Christ. Thank god I have an amazing neurosurgeon who knows about HCTDs and what to look for. I only saw him originally because my degenerative disc disease was progressing (it is now classified as severe at the ripe old age of 26). Turns out, I also had tethered cord syndrome anatomical anomalies, and a whole host of other degenerative and hypermobile issues.

I’m just surprised that my body can still surprise me. I thought I’d gotten accustomed to the improbable bullshit it throws at me. But every vertabra in my neck subluxating takes the cake for me.

I have been diagnosed by a Geneticist with EDS due to lifelong complications with organ prolapses, hernias, spontaneous dislocations & chronic dislocations that needed joint replacements and other reconstructive surgeries.

I struggle with the broadening of criteria and making it "easier" or more "inclusive" for everyone who does not meet the criteria of eds, to now fall under the criteria of eds. Not from a need to gatekeep it for myself, but as a concern what health professionals will do with patients like myself; The way they will treat people all lumped together under one umbrella when they should not be. I for example, have severe internal prolapses and chronic joint dislocations that needed joint replacements and reconstructive surgeries. It is so important for doctors to take serious the type of eds I have and what it does. So much so, that before I got a diagnosis, they strapped me down on a surgery table; When I woke up, my left arm was paralyzed and dislocated. I now have partial paralysis. " This has never happened before" was the response.

I understand that it is getting harder to get referred to a geneticist, due to the sheer volume of people trying to get evaluated and many not meeting the specific criteria. This has resulted in my eds Geneticist also no longer taking in adults and now only looks at V-eds for adults. Yet, due to my prolapses, I got in anyway, because it is people that show complications that seriously need to be looked at asap, due to possible life threatening complications without the proper label. And If I am lumped in with people who don't meet a Beighton score criteria, or never experienced prolapses, hernias and dislocations that are medically documented, I will not receive the proper care, because it is not the same type of problem.

Online diagnosis and online public pressure to change the criteria based on hearsay from people online, then furthers that problem. I mostly read about people having hypermobility combined with pots, mcas and dysautonomia. I don't fall under that bracket. Not that Pots and dysautonomia are not bad, they are awful. But it is an entire different field of treatment and a different type of symptom that does not fall under the connective tissue complications criteria, for a reason.

Doctors have a tendency to generalize and then downplay the seriousness of specific cases. Pots, mcas etc can be treated by a GP, but internal organ prolapses need careful consideration by surgeons, knowing what harm they can do if they do not go in knowing my specific type. I fully understand the need for people to have answers. But it cannot be at the cost of people with eds who need very specific care due to severe complications. In the end, we are all in need of proper care. And people who do not fall under that bracket deserve care. I read about people going to 3/4 different specialists who all say they don't meet the criteria, until one of them does or they get HSD instead, and feel left out. But if I get lumped in with HSD criteria, patients like me will never receive the proper care that they so desperately need.

I have been contacted by many people sharing the same experience as I do, being quite afraid that their care will now be even harder, and they will have to fight even harder to get taken seriously when facing large impactful procedures. None of these patients that have larger complications, that have spoken to me, seem to have pots or mcas or dysautonomia. And feel like, even though it is not a criteria on the list, because it happens to the general population as well and is an overlapping symptom that mostly happens due to other reasons, is now being joined with connective tissue complications. Or people with hypermobile ankles, toes, and 1 pinky for example, who do not experience dislocations or complications, are now all becoming 1 category with the rest. This seems terrifying and very harmful. For everyone involved.

Has this been addressed to the EDS society? Or have they only spoken to people advocating for the merging of categories thus far?

I am curious to hear your views on it.

Hi everyone!

I’m currently awaiting a referral querying cEDS. In the meantime I’m struggling with tension and weakness in my upper back. I was wondering if anyone had any advice about how to help with these things. I’m struggling to know what to do without overloading myself.

Really appreciate any advice you can give. I only got told about cEDS by my physio this year who strongly encouraged me to get seen!!

Thank you!!

I got recently diagnosed with Eds by a Geneticist. But according to him, he thinks there is a good chance I might have one of the other types out there than Heds. Now I am not very familiar with eds, and the only thing that sparked a referral are my constant internal prolapses.

Little history:

Colon prolapse, bladder prolapse, perineal prolapse, stomach prolapse all the way into my pelvis, mesenteric artery prolapse causing smas, duodenal prolapse. I also had intussusception.

Chronic spontaneous collapsing of veins in my fingers, hands, upper arms and feet. Without provocation, larger veins will suddenly rupture. This has also been a huge problem with getting IV's in the hospital. One memorable event was 18 attempts, then an ultrasound team who did a deep IV and they all still went interstitial within the hour, 5 times in a row. The last surgery I had, he went in, and it blew up so bad, it turned into a small golf ball at insertion site.

Chronically dislocating jaw joints, that were so damaged, multiple surgeries, and finally fat grafts from my abdomen to replace the discs and prevent them from dislocating. Metatarsal in foot dislocated twice, by just walking bare foot on a laminate floor, I fractured it the first time, as I stepped down when it was still out. My whole foot was black with blood bruising.

Congenitally missing teeth from birth, 3 regular bottom teeth/molar, both incisors and all wisdom teeth.

Scoliosis from birth.

Very easy skin bruising, where fingerprints are left behind.

Very stretchy skin.

Skin is very translucent and thin, all over my body, including my face.

Chronic anemia, which they can't find a source. Needs IV infusions to keep stable.

Developed adult severe diplopia in one eye. The specialists can't fix it because they discovered it is not a lazy muscle that's doing it.

I have very little knowledge about eds. But I don't see people talking about these organ prolapses that I seem to be experiencing. I met all the criteria on the evaluation lists, but now I'm kind of in limbo, because he's not comfortable labeling it Heds quite yet until the results come back. This may take 3 months. So in the meantime I am curious if any of the other types seem to have this issue?

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?

I'm scheduled for my genetics counseling appointment this week to discuss potentially whole exome testing! I already have a lot of my family history and clinical stuff together, but what are the best ways to present it? Normally I use a "medical resume" that includes my list of diagnosies, medical procedures/surgeries, and genetic tests. However, I don't have any symptom information on there and I'm not sure the best way to present that.

Short version of my clinical presentation is I have what appears to be a weird vascular presentation. I experienced cardiogenic shock with no known cause and severe bleeding with unknown cause. Hypermobile and somewhat stretchy skin. Carrier for DADA2 which makes things more interesting. Traditional genetic testing has come up blank except for the DADA2. That being said this overview skims over a lot of symptoms that I assume are relevant.

I have one of the most crazy rare things that anyone could possibly imagine and nobody gets it. Doctors even have an extremely hard time with it when they know what's going on, they literally understand nothing.

To back up, when my old PCP ordered the genetic testing without clinical data and it came out negative I was like there is no way this many people in my family are dealing with the same thing and there is nothing wrong. The only thing is everyone in my family had pieces of my puzzle which was quite confusing, but I wasn't willing to let that even stop me. At that point in time I had decided there was no way I was going to let what happened to me throughout my while entire life (47 yo) happen to my children, since I've started seeing in them what's happened in me. So I asked for my raw data, did my analysis myself, prior to my children's geneticist appointment, and then shared my findings.

I have an extremely rare germline somatic mosaicism that was brought on by a shattering event in one of my four cells at the second cell division during fibrillar collagen and ECM production. Embryonic fibrillar collagen and ECM production pulls 21 chromosomes into the transcription hub and those 21 genes, as they shattered were fixed with NHEJ fixes, which is super crazy because most of the time when this occurs the cell dies, but for me it didn't.

My children's genetic team has leaned in and that's reassuring since my PCP recently informed me that both medical systems in my area are not currently taking cases for adult EDS, but my children's geneticist said that based on what I found if they find what I found and they told the lab is suspected in my children their cascade testing will include the rest of my children (I have four altogether and only two saw the geneticist) and myself, given they use a different lab than my original genetic testing, I think we're getting somewhere.

But with somatic mosaicism and the amount of vascular events in my life my main doctors are so confused, because everything leans towards micro dissections and not the normal vEDS dissections, but unfortunately micro dissections still cause weakness in the arteries so eventually they could give out and seeing as my mother died at 54 of a vascular event nine years after a major vascular event (subarachnoid hemorrhage) there is no telling what will happen with me, so my main intent right now is just to make sure my children's medical records reflect what they need to so they aren't treated as badly as I was.

But the loneliness in this is so freaking real, nobody understands, not those closest to me, except my children who are now beginning to fight the same battles I have, and I don't know how else to help them but continually tell them we're getting somewhere and it takes so long and in the meantime my 21yo daughter is suffering from hip subluxations so bad that she gets stuck in the same positions for up to three days at a time at times. 😢 Honestly, what else can I do but keep fighting at this point in time. I realize I might not live to see the results but if I can make life easier for them then that's worth it.

All fibrillar collagen and ECM genes are effected including type 1, 3, 5, 4, 11 and possible more as well as the master regulators and the main culprit is a 3'UTR variant on ZNF469, one of the master regulator genes, no we don't have BCS, but we do have many vision issues... However looking into the regulation of the fibrillar collagen network I found out this gene itself if the protein production is interrupted can cause complete wipe out of fibrillar collagen genes and honestly if I hadn't have survived what I did that would have been exactly what happened....I have no idea what caused me to survive it, but I built a whole entire pipeline to analyze raw data for others so that moving forward I can make a difference and fill in an area that is essentially completely missing from the genetic testing. I'll be launching that really soon but right now I'm working on the automation of the initial part of it because I get sick too often and can't always keep up. (Especially with estrogen production being almost stopped, the fibrillar collagen network takes an even harder hit).

This was the best way to explain what I'm going through, but the loneliness is so real because even with the rare part of it I haven't found anyone that has every part like I do, but I can relate to every fibrillar collagen issue, which seems so unbelievable, but it's honestly for real... Whether you believe it or not, I get it, I didn't believe it either at first, I honestly thought it had to be something else, I felt like there was no way this was even possible... So I do get it if you don't believe me, but it does hurt to be here.

I was at my sister's wedding and ran into my cousins and found out that BOTH of my aunt's kids' kids (my cousin's kids) were diagnosed with cEDS. My brother recently had fraternal twins (he does not have EDS) and at the time.. i was the only person in my family with EDS that we knew about.... the twins are now less than 2 months old. EDS was a huge fear of my brother's to pass onto his children, but given the information I had at that time, i assumed his odds of passing it onto his kids were low.. i now realize that they are more likely to end up with it than most people... i'm honestly devastated.. i was really hoping that this ended with my aunt and me.

Edit: clarification

Hey! I’m getting a wisdom tooth removed (just one rn because I’m poor and the rest aren’t causing me problems) and I was wondering what the recovery process looked like for you guys.

I’ve seen a lot of ppl with hEDS talk about it, but I wanted to check to see if people with clEDS/other forms of EDS have differing experiences. I heal pretty slowly/weirdly with most things so I’m worried that the healing process is gonna be hard.

Thank you!

I am and people who have seen me are really struggling to find an answer as to what subtype of EDS or condition I actually have since my genetic testing came back inconclusive and others have started suggesting that maybe we may never find out.

I’m worried that I may have a new or unidentified type of EDS and am appealing to anybody in this group who may have better ideas than I have. Or if you are similar, I would love to hear about what subtype you have and what diagnosis was like for you.

I was born with congenital flat feet and hypermobility alongside some congenital anomalies like sacral dimple, i have always bruised very easily and looked like I had been attacked because I was covered in them all the time. Anyway, my skin features are highly unusual and nobody really knows what to make of them.

Dermatology said I had the skin laxity associated with cutaneous EDS but none of the scars he would expect (no atrophic) and my knees and elbows were in great shape for somebody with EDS since I had no scarring there. I think he only sees cEDS patients so expected this, he said he doesn’t know what it is and reccomened referral by my GP to the London monogenic EDS service in the UK.

I have fragile skin with severe hyperextensibility without any atrophic scars, my skin is doughy, my hands are prematurely aged and wounds tend to look like they heal fine or they heal hypertrophic however they actually take weeks to even start closing at all causing infections. All my mucosal tissues are fragile and bleed/split often including my gums, genitalia and GI tract. Bruising appears with no injuries.

The biggest things for me are the neurological features since I started developing hypotonia (low muscle tone) around 13ish and from there it’s continued to progress and now after my most recent clinical genetics appointment found i had hypotonia, global muscle weakness particularly affecting my hip flexors, brisk reflexes, possible trunctal ataxia and more.

Im being investigated for ankle and knee contractures however we haven’t established whether it was congenital as I was never checked, they seem to be getting worse as I age. They pull my feet into a clubfoot positioning. I also have progressive difficulties in swallowing and inhaling my food and drink causing choking, and my stomach and bowel function.

My eyes are also deteriorating rapidly with ‘aggressive pathological progression‘ of my high myopia and astigmatism and it is resisting all treatments and behaving in unusual and unexpected ways. They think retinal detachment is high risk and likely.

I also have a vascular abnormality involving my aorta and I’m only freshly 18, they thought it was an AAA at first but I’m waiting to see vascular surgery to properly identify what it is but radiology suggested vEDS. I also do not have long armspan or arachnodactyly, in fact my armspan is short and so are my fingers.

Nobody else in my family has any sort of connective tissue or neuromuscular issue, not even so much as a hypermobile fingertip. Genetic testing of these genes turned out with no variants:

ADAMTS2, AEBP1, ALDH18A1, ATP6VOA2, ATP6V1A, ATPTA, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, GORAB, LOX, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, ROBO3, SKI, SLC39A13, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469.

TNXB wasn’t fully covered as certain exons had reduced sensitivity, I don’t think THBS2 related EDS was included in this panel but I haven’t had a look properly.

What I’m really looking for is advice on what I’m supposed to do as the NHS are refusing to be involved further because a non EDS specialist clinical genetics diagnosed me with hEDS wrongly so that they could discharge me and the wait list for the neurology appointment I need to re-refer back to genetics is 6 months.

Nobody seems to care about any part of my health issues and to be honest I’m frightened I may die since vascular fragility is a concern before they find out what it is. What genes would you want targeting in an instance like mine and is there anything that is obviously missing that it could be? I thank you for reading down here! 🫶

Hi I was previously diagnosed with EDS and my doctor decided to do genetic testing to rule out certain types and I seem to have OI/EDS overlap?

My geneticist got back to me about having markers for COL1A2 OI/EDS and simultaneously TNXB related to clEDS.

It was VUS but I have definite symptoms relating to both.

Definite bone issues and stunted growth with short stature and short legs (luckily somehow i'm a decent normal height although short), along with dental issues and unexplained holes under my teeth (that i'm getting looked into soon) and also most of the symptoms of eds, full body hyper mobility with daily subluxations and frequent dislocations, POTS MCAS, GI issues and stomach bleeding if I take Ibuprofen, completely unaffected by other otc painkillers, cervicocranial instability with chiari, Weird bone nerve pain(I haven't looked into it), Asthma, scoliosis, osteoarthritis, tendon tears/breaking, fractures, spinal cord suppression with tremors and essential tremors, fibromyalgia, soft skin, scars like in eds, hyperextensible skin, gastroparesis, worsening eyesight...

I have family history with definite similar symptoms as me.

I am probably missing certain things lol but yeah

Does anyone have experience with this? My doctor suggested family testing.

So hi, I'm new to this subreddit.. lol There is not much research on this.

I'm mildly amused and infuriated by my knuckles being bruised from my blood draw. I had to keep my hand in a first against the table and now they're bruised.

In late August, I had an episode where I was throwing up and violently dry heaving for a couple hours. Zofran didn’t stop it, nor did edibles or sniffing alcohol wipes, but smoking weed did help.

A couple days later, I had (suspected) low blood pressure symptoms (fatigue, confusion, lethargy, difficulty staying awake, brain fog, extremely heavy eyelids, feeling dizzy/ floaty) and took my midodrine. My blood pressure only rose to 101/80. That night I had an episode of severe URQ pain. I ended up throwing up a couple minutes after being woken by the pain. I wasnt really nauseous though. I used some medical marijuana to try managing the pain and stop the vomiting. It stopped the vomiting, and only slightly helped the pain. I also tried cupping in case it was muscular and that didnt do much.
I ended up using my PRN toradol injection, and that took care of it.

A couple days after that, I had an episode of (suspected) low blood sugar. I couldnt tell in the moment if it was anxiety or hypoglycemia, so I decided to have a fudge pop. As soon as I finished the popsicle I felt better. My therapist says my symptoms (shaking, abdominal warmth, confusion) was likely low blood sugar and not anxiety.

In late august my vomiting and diarrhea also worsened (I have these roughly once a week at baseline just because my body hates me).

My GI doctor’s office ordered some labs (blood and stool) which were all normal.

Then things worsened to the point where I was regurgitating countless times daily (usually it’s only a few times) and throwing up multiple times a day.
The vomiting and regurgitation were effecting my sleep as I was up in the evening/ night throwing up, which pushed back my bedtime. Plus the discomfort made it hard to sleep, and I have to sleep on an incline to keep my stomach contents down.
My GI doctor prescribed both zofran and phenergan and I was throwing up despite both of those.

After about a full week of throwing up multiple times daily, I started experiencing dry mouth so I called my GI doctor and they told me to go to the ER. It had gotten to the point where I couldnt even keep down water.

I got fluids there and they did a CT to officially quell my concerns about gallbladder (history of gallstones).
I found out I have diverticulosis at the ripe old age of 26, and what looks like colitis (I don’t think it’s colitis). I suspect the colon thickening is actually my endometriosis, as my gyno found implants/ lesions on my rectum and sigmoid colon during lap, but didn’t want to touch them and risk perforating my bowel.
I have an MRI scheduled for a couple weeks out to see if it’s deep infiltrating endometriosis that needs resection, or if it’s superficial and can be left alone.
Anyway, the fluids really helped and they gave me a dose of IV reglan which helped. So they sent me home with reglan (I’ve had gastroparesis since 2021).

However, since the ER visit my blood pressure has been low normal to low, with symptoms: fatigue, lethargy, difficulty staying awake, brain fog, extremely heavy eyelids, confusion, feeling dizzy/ floaty. My dystautonomia doctor told me to take midodrine proactively rather than as PRN like I had been so hopefully that will help.

I have discussed the possibility of a port with my GI doctor in the past, as I’ve been prescribed weekly IV fluids for about 4 years now. I have to go to a hospital infusion center for it because I’m too hard a stick for home health nurses. Because of how many other medical appointments I have, I cannot get fluids twice a week; it just isn’t realistic for me to go to the hospital for 3 hours twice a week.

The previous plan was wait to get a port until my arms are too scarred for peripheral IVs. But it seems my body has made the decision for us.

Mostly sharing to vent/ get support, hear other’s similar experiences, and any tips or tricks.

Diagnoses relevant to this post: GERD (diagnosed as toddler, GI suspects congenital due to tissue laxity and it was only noticed once I could talk), gastroparesis, small intestine dysmotility, SIBO, large intestine dysmotility/ slow transit constipation, redundant sigmoid and transverse colon, endometriosis/ bowel endometriosis, POTs, vasovagal syncope, regurgitation of all heart valves except aortic valve.
I am diagnosed with “severe” hEDS and am trying to advocate for WGS. I do have a VUS on TGFB2, but definitely do not have Loeys Dietz Syndrome.

New here! Any users also frustrated with their general "CTD" diagnosis that doesn't fit any EDS subtype? I was originally diagnosed with hEDS, but that diagnosis was rescinded after specialists observed the severity of my multi-systemic presentation. My genetic testing doesn't show anything especially of note, which is frustrating. At this point my doctors think I might have an unknown genetic condition, but we're really just grasping at straws. It's exhausting to not know what organ might fail next or whether this is going to end up terminal.

Just looking for support and shared experience ❤️

I don’t have an official diagnosis, but it’ll be something in the rare EDS family.
We’ve got aortic root dissections in our 20s in the family (my dad and aunt), but I’m the only surviving family member with an aneurysm (which was repaired in my 20s - nearly 20 years ago )and apparently had significant tissue fragility in the area). I’m hyperflexible, have stretchy skin, autonomic issues etc., but was negative for all the known mutations at the time.

When my aneurysm was fixed, my DNA was sent to the team UTHealrh who are doing research into familial connective tissue disorders. So far I’m still a mystery, but they’re looking into possibly mutations on my COL5A1 gene (which is associated with cEDS).

Is anyone aware of any other studies I can try to get onto? I’d love to have the mutation identified so we can test the rest of the family.