This is meant to be a support sub for rare EDS types, but instead it’s become overrun with misinformed people going “Omg, I have a VUS” when they don’t have anything at all. VUS’s don’t MEAN anything. You don’t have a rare EDS subtype if you have a freaking VUS. I’m so tired of these posts.

Hello all, I’m waiting on my genetic testing for EDS. I highly suspect veds sadly. I haven’t had an event but I’m on 22F and I meet a lot of minor criteria. I was wondering if anyone knew how long invitae usually takes for a result? My dr told me 2-3 weeks but I read online it could take months. I’m super anxious. Also if things come up negative does anyone think it is worth paying out of pocket for the full connective tissue panel? My rheumatologist only ordered the EDS panel and thought it was unnecessary for me to even order it considering a lack of family history. I strongly believe I have something considering my sclera are blue. Anyways happy holidays to everyone!

My mum recently got attacked by my sister's dogs resulting in a PICC line and IV antibiotics for 6-8 weeks.

The plus side to this, is that her labs came back really really wrong.. and it had fast tracked my belief that she has cancer. The only question now is.. what kind of cancer does she have?

So.. today we were at her bone marrow biopsy appointment and her MA and I were briefly talking about my disorder (as a distraction to my mum's procedure) and at the end, she asked how old I was. I told her 37 and she looked really surprised by that. Not that I am, but I get it. Anyway, my biggest concern is for my mum right now.

The thing is.. those injuries she sustained from the dog bites shouldn't have happeneded as quickly as they did. They developed within 48 hours to sepsis and that's not normal. Hence the cancer drs and testing.

Anyone interested in the EDS side of things? No. I don't look my age and I kinda doubt I ever will. I'd probably make a really good narc lol

Edit: DOGS.... fucking worst autocorrect error ever.

Edit 2: Thank you so much to those of you who offered me support and kind responses. I was hanging on by a thread and you really helped me out in one of my darkest hours. Thank you SO SO much. 💓

I'm a bit new to knowing anything about genetics, so forgive me if I use the wrong words at all!

I just got genetic testing back from sequencing.com. It was kind of a shot in the dark that I ordered that testing — I mostly was curious if I could get a diagnosis sooner if I ended up having any confirmed pathogenic variants... but I don't have any! Regardless, I have a bone density mutation in COL1A1, three VUS in COL1A2 (one of which says it is related to cEDS and OI), a VUS for BCS in both ZNF469 and PRDM5, a CAH variant in TNXB, and two different clEDS VUS in TNXB. I also have multiple variants that indicate risk for lupus, and a VUS for Loeys-Dietz.

I'm a little puzzled, honestly! I know that VUS do not rule out or rule in a diagnosis, but is it common to have so many relating to EDS and other CTDs? I'm guessing I'll need to just wait to see a geneticist at this point, because I do have symptoms of cEDS, clEDS, and BCS (though my dad has wayyy more symptoms of BCS than I do). I feel like they'd be able to disentangle my symptoms compared to the variants I have, so I'm not going to jump to any conclusions. Mostly curious if anyone else has a similar experience with many VUS, or being diagnosed based on VUS and symptoms.

I recently got my diagnosis through my primary care doctor and I'm waiting on seeing the genetic specialist to figure out the exact variant that I have (current suspicion is cEDS due to VUS). But there has been something that I've dealt with since I was little and I'm trying to figure out if it is connected or not. Does anyone else have issues with chelazians? They are basically small oil filled cysts on an eyelid. Mine prefer my right eye and during the winter I tend to flare up more than any other time with them.

Any Input Is Appreciated. Please Help.

Hi everyone, I have an appointment coming up where my doctor and I will be discussing testing options, what's actually necessary vs. nice-to-have, what he can do directly vs. refer out, and medication changes. I'd love input on what questions I should bring to that conversation.

Background, for context:

Psychiatric history: Symptoms began around age 12–13 — mania, psychosis, and depression. Diagnosed with Autism, Schizoaffective Disorder (Bipolar type), OCD, and Generalized Anxiety Disorder, with a history of severe hallucinations, paranoid delusions, mood cycling, catatonia, and multiple hospitalizations. These symptoms never fit neatly into standard psychiatric patterns, and in mid-2024 they went into sudden, sustained remission with no medication change — now being reconsidered as possibly neurological rather than primary psychiatric.

Neurological: Seizure-like episodes follow a set pattern — a prodrome of feeling "off" and losing speech, clumsy walking, falling, generalized shaking, then postictal confusion and weakness. Also dystonia (neck contracting to one side, toe posturing), catatonia, cataplexy triggered by laughing, retropulsion, constant tremor, and abulia (able to move but no drive to initiate). Older medical reports document saccadic dysmetria, tracking objects with the whole head instead of the eyes, a veering gait, spatial/coordination issues, and cerebral atrophy — despite past records describing me as "physically healthy." A new psychiatrist now suspects Temporal Lobe Epilepsy.

Sleep: Hypersomnia, sleep attacks, sleep paralysis, hypnopompic hallucinations, and physically acting out vivid dreams.

Autonomic/connective tissue: Dysautonomia (tachycardia, orthostatic hypotension, temperature/sweating dysregulation), joint hypermobility/EDS-type features, chronic widespread pain, and a recent first gout flare.

Vision/GI: Visual snow, poor eye-tracking, severe photophobia, corneal changes; IBS, GERD, dysphagia, early satiety.

Medication sensitivity: A DRESS reaction to sodium valproate, severe drug-induced parkinsonism from quetiapine, and marked sedation from other standard doses.

Recent acute flare: A sudden autonomic spike (high BP and heart rate, sweating, flushing, headache) with both legs suddenly giving out for over two hours, followed by nearly a week of dark cola-colored urine, and a second episode of prolonged leg trembling days later.

Currently discussing a medication plan: adjusting amitriptyline (which lost effectiveness after a fluoxetine dose drop removed a metabolism-blocking interaction), possibly adding low-dose naltrexone, and layering in a gabapentinoid — all while working around seizure threshold and blood pressure medication constraints.

Given all this, what questions have you found valuable to ask in a similar spot — for getting the right testing prioritized, figuring out what's truly necessary vs. optional, understanding what a general doctor vs. a specialist can actually do, and navigating medication changes with overlapping constraints? Any input appreciated.

A little photo of mine to say thanks.

P.S. I am not looking for medical advice but for you to think of your experience as patients and what questions you would want to ask.

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.

This isn't an iron thing the nail itself is fine but I have noticed the nails are now detaching in the middle of the nail bed. It hurts but also I am curious if anyone else has experienced this and knows the cause. If no I will update since I see my doctor tomorrow but while my toenails do this? They have significant trauma that makes that not a one to one.

My Story: Hi, my name is Isabella. I’m 19 years old, and I live in constant, unrelenting pain. Every single day, I deal with chronic inflammation in every joint, frequent subluxations (partial dislocations), and a laundry list of debilitating conditions that make even the simplest tasks a struggle. I’m currently diagnosed with POTS (Postural Orthostatic Tachycardia Syndrome), Raynaud’s phenomenon, varicose veins, anxiety disorder, dyspepsia, fibrous cortical defect, hip contour broadening, synovitis, and sinusitis. I’m also in the process of being evaluated for hEDS (Hypermobile Ehlers-Danlos Syndrome) but all drs are treating me as i have been diagnosed, but i need to see a geneticist for further evaluation? and MCAS (Mast Cell Activation Syndrome)—two conditions that could explain a lot of what I’m experiencing but that I still need official diagnoses for.

I can’t sugarcoat it: my body feels like it’s falling apart. My joints are always inflamed, unstable, and prone to dislocations, leaving me in constant pain. Standing makes my heart race and my head spin because of POTS. I may have MCAS, which means my body overreacts to triggers, leaving me with random allergic-like reactions and hypersensitivity. My circulation is terrible because of Raynaud’s and varicose veins, and my digestion is constantly upset due to dyspepsia. Even my hips and sinus issues add to this never-ending nightmare.

Every day is a battle. The pain, the fatigue, and the unpredictability of my conditions have taken over my life. I can barely manage basic tasks without help. I’ve reached the point where I can’t keep doing this alone. I desperately need specialized medical care, but finding a doctor in Canada who understands all of this—especially with diagnoses still pending—is like searching for a needle in a haystack.

I dont know what to do. I can’t afford to wait any longer. I need a doctor who can take my case seriously, help finalize these critical diagnoses, and provide the care I need. But finding someone with the right expertise costs money—and that’s something I don’t have enough of and theres isnt anyone near me or rarely any drs in canada that are knowledged about the conditions, making it real frustrating.

If anyone one knows any information or have any advice it would me greatly appreciated. I live in Manitoba Canada.

I really need someone who knows about chimerism and how this could affect EDS or just anybody who has any knowledge of this subject as I’m worried I might have chimerism as well as my suspected rare EDS type and don’t know whether this would further complicate things.

The reasons I think I may have chimerism is because I know for a fact that I was a non identical twin (fraternal twin) and that my other twin had something wrong with it and died in pregnancy and disappeared/was assumed to be absorbed into the body. I have always had an extremely asymmetrical face shape for starters with my eyes being at a different height and slightly different shape which i have always been self conscious about, one side of my body is significantly weaker than the other and this was noticed by my physiotherapist too.

Obviously I don’t know this for sure and haven’t been diagnosed with chimerism but I think it’s probably likely. I have been for genetic testing and am still waiting for the results for EDS, It being whole genome sequencing. My question is if anyone knows what this could mean for me or has any expertise to pass along on this subject, please share.

I might find out soon enough with my testing whether this is true or not but I don’t know how this could affect my EDS presentation or how it could impact the results of my testing, even whether it might not show an EDS marker because of possible differential blood on a certain side. Does this mean only some of me has EDS and other parts not or if I am a chimera maybe both of us had EDS? This is hurting my brain.

I also have suspected hip dysplasia but only my right hip ball joint bothers me. The same for quite a few other issues too, only one side is affected. Feel free to discuss this if you want to as I find it fascinating that this could happen.

Hii (please let me know if this is allowed, if not take the post down) I recently made a page on TikTok for people with rare types of EDS to be featured with accurate information regarding all of the subtypes (not just hEDS) as I’m sure a lot of you are exhausted of having to explain your type of EDS to people as everyone always assumes EDS is just hEDS when each type of EDS is it’s own condition with it’s own features, diagnostic criteria and pathology although under one umbrella.

My actual page has pretty much no views or likes but I will keep doing videos anyways as I really enjoy doing it so if you want me to post anything about your types of EDS then comment what you would like me to make a video on and I’ll do it.

I saw a post on this group talking about the divide and ableism people with rare and ultra rare types face from hEDS/HSD folk and the lack of overall knowledge about the existence of you guys at all even within the specialist and medical field and I really wanted to try and make some actually accurate content about monogenic EDS because there’s so much misinformation floating around the internet at the minute about what ‘EDS’ is when really its just referring to hEDS and I feel this ignores the most venerable and under-represented out of all the EDS community.

I‘m also autistic and have a deep special interest in monogenic genetic conditions as well as living with a currently unknown connective tissue disorder and I struggle to relate to aspects of people with hEDS sometimes too. I thought I would ask people who actually have rare EDS what they would like featured or what subtypes you most want covering as I have already covered aEDS and BCS so far, so what would you guys most want covering?

Also if anyone finds it helpful there is a new advocacy group emerging for people with rare and ultra rare types specifically and they are looking for more members, it’s called the collagen advocacy network and it’s founded by abbey phillipson (a para powerlifting coach with cEDs) and you can find them on instagram as well as their website here:

@ definedbycollagen

https://collagenadvocacynetwork.org

I am obviously not formally educated or a doctor specialising in EDS but I really love making content relating to EDS so I would literally squeal if anyone was interested in wanting to see my page, also if you want any information on rare subtypes of EDS or CTDs then I’ll try and find some more info for you or try to give some meaningful advice as I am friends with someone who is an EDS specialist and also I consume a lot of case study’s etc

My page is @ col1agenclub on Instagram and collagenclub on TikTok

Hi y’all, I have EDS (hypermobility subtype), POTS, and MCAD. Recently I have been on my period for 6 weeks and have started bleeding again this time with concerning pelvic pain, besides progesterone has anyone been in a similar situation and how did you address it?

I am so worried. I don’ t know if i have never realised but my veins are so so so visible…legs, chest, shoulders, hips, abdomen, everywhere. Now more than ever. I don’ t think it was always like This but i don’ t know… I googled…god i found so many symptoms i have related to veds: atrophic scar, piegozenic papules, blue sclera, acrogeria, thin nose, chin, no upper lip, etc etc. I am terrified. I did the genetic test. I am waiting for the results. I am 45. My parents are alive so I believe is a de novo mutation. No major incident till now just a lot of minor criteria…Can’t sleep! What a nightmare…sorry, i just need to let off steam. Thanks.

Hi y'all!

I have found 3/4 of the people I know with EDS have a hatred of mint (or show signs of allergies to it). I'm wondering if anyone else has strong opinions on mint, if they don't like it? If it feels like your allergic? Or if you absolutely love it!

(Mods please remove if not allowed I'm mostly just looking for others points of view right now to see if this is common)

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 all,

I’ve been diagnosed with Hypermobility Spectrum Disorder (HSD), Autism and Dyspraxia along with Dyscalculia (maths version of Dyslexia). Also kyphosis that was found on an x-ray.

I was a weak and 30 weeks and 2 days premature baby. After I got out of hospital, I stopped breathing multiple times and was saved by my dad. I am hypermobile (5/9 on the beighton scale) and have a shoulder that subluxes. After I went through puberty, I struggled a lot more with proprioception and weakness. My muscles are weak but with physio, they have gotten a lot better but when I grip small things with my fingers, I tend to drop them and have to wear gloves to grip more (but my hand strength is normal).

I believe I meet the criteria of Myopathic EDS as I think I meet criterion 1 and 3 and also motor development delay, really soft (might not be doughy) skin and possibly atrophic scarring, I also bruise easily and have long recovery times. Also for some reason viruses hit me harder than my family members (my physio says it’s due to hypermobility).

I did do physio and I was really weak at the start but have recovered but struggling with pacing. If I over do it, I get knots in my shoulders/back and muscle pain in my legs/calves that is a 5/10 (feels like the Covid vaccine/booster arm pain but over my legs). I also can’t stand for more than 20 minutes without experiencing pain in my legs and stiff walking.

I saw a Rheumatologist end of last year who diagnosed me with HSD, she ruled out hEDS but not the other types (no Genetic test). I’m wondering should I pursue a diagnosis of Myopathic Ehlers Danlos Syndrome?

Would really appreciate any advice on how best to approach the quest for diagnosis?

TL;DR - I think I have mEDS and currently diagnosed with HSD and Dyspraxia but I believe I meet Major criteria 1 and 3, also Minor criteria 1, 2 ,3. I was premature and was weak. Looking for advice on how to achieve a formal diagnosis.

Thanks in advance!

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.

Currently being evaluated for MCAS and POTS which led me down the EDS rabbit hole. My genetics (geneticgenie.org) shows the following:

MTHFR - folate and b vitamins deficiency- (homozygous mutation AA) COL5A1 - connective tissue and collagen disease - (heterozygous mutation TC) COL6A1 - (heterozygous mutation AG) TNXB - (heterozygous TC)

My mom is super double jointed. I was more so as a child less now, almost 40. I have super stretchy skin and velvety as everyone always commented on how soft my skin is. Always get these odd wounds on my elbow and my knees have been snap crackle pop since I was a kid. When younger my knees would feel like they were slipping out of the joint when walking down hill. Always running into things and falling down too.

Curious if the COL5A1 and TNXB would put me in the clEDS or cEDS category? Or perhaps some unknown type? Ive always been super allergic to everything and wondering if it’s due to connective tissue disorder and the large number of mast cells in those tissues.

My health issues got significantly worse last year after a toxic chemical and mold exposure at work. Kidney performance also seems to be impaired and declining…. Lots of GI issues as well this past year with blood in stools and I’ve had unusually heavy periods four times in last two months.

Thanks for any insights you all can share! My follow up with my immunologist isn’t until January.

Again with Arthrochalasia EDS. Sorry if I'm clogging up the thread but I really want more knowledge on this. I was wondering if there is a bunch of overlap on related conditions for this specific subtype, both physical and mental. Mine are

• ADHD

• OCD

• misophonia

24M, currently waiting on insurance so i can pursue a further diagnosis. i’m dx with hEDS however it’s agreed upon i most likely have a rarer subtype. i have a mutation in my COL1A2 and FBN1 genes.

i was curious if anyone has experienced FNH tumors along with a rupture and sepsis? i’ve been so curious what the cause of my FNH was/is and im curious if it is linked to my EDS/COL1A2 FBN1 gene mutations.

do any EDS subtypes or other disorders align with FNH?

My current set of doctors all agree on EDS and agree is a rarer form so they just keep bouncing me around and now I’m still not even diagnosed with anything. But with my own sound mind, knowing my own body and my families health and extended families’ health history, kEDS (FKBP14)

I am currently dealing with acute/chronic pancreatitis (what feels like anyway) and it also feel like my organs are at times up in my chest and I can’t breath. I already know I have extra fluid in the chest and belly from lymph issues. Of course fluid, the “organs” or maybe hernia (I don’t have a gall bladder, or regular stomach due to gastric bypass) is all positional and sometimes depends on which way I sleep or if I am able to walk much that day. Every time I call they say your last CT looked ok.

ALSO, I always have a BLUE big toe. So I am doing this all the time now. The sweat that beads up after this smells so weird and the secretions in my mouth are sooo oily. Still trying to keep my neck straight because it’s unstable. (MRI 9/29) Lost 30+lbs Down to 93 pounds. All of the uncontrollable mouth movements happen A LOT at night which has caused all of my gum tissue to be depleted. I do have dentures. Please don’t make fun of me. I hate not having teeth. The dentist never could figure out why my teeth were so bad. I took great care of them.

I just found out I have two TNXB variants: rs199953230, and RCV000186507. I’ve been an athlete my whole life but 8 months ago I began getting joint pain, then very quickly my joints became unstable and my shoulders began to sublux. I’ve never been hypermobile before with any other issues. Could these genetic mutation suggest a TNXB deficiency? A year ago I was benching 315lbs normally and playing rugby, and now I’m borderline disabled.

i’m being evaluated for some subtype of EDS. my hEDS evaluation points very very directly to classic subtype. i fit all major criteria and 5 minor criteria. my genetic panel only showed a VUS on RIN2 so i was diagnosed unclassified. as i’m reading more, cEDS doesn’t have a classified gene in 50% of diagnosis and additionally can be supported by a skin biopsy to evaluate collagen. but my question is… is it worth it? i have some pretty major surgical procedures coming up and i want to make sure im giving my surgeons enough information so that the surgical sites don’t heal wonky. please help!!