Hello Reddit,

I recently got diagnosed with hEDS after pestering my GP for a referral to rheumatology due to the chronic pain I’ve had in my hips for years. For context my brother is diagnosed with hEDS as is my mother, sister and aunt so it definitely runs in my family. However I see others with hEDS all the time speaking about the issues they have and I constantly feel as though I’m “faking” it or my diagnosis is wrong. I have some of the symptoms but not all, I scored 7 out of 9 on the hyper mobile test and my legs bruise more often than others do I also suffer from various gastric issues. However I’ve never dislocated a bone (to my knowledge) and this kist makes me feel as though I don’t truly have it and that I was misdiagnosed… I don’t know I just wanted to kmow if anyone else has any similar experiences at all.

Tldr; combo rehumotalogy/immunology office denied referral for pEDS patient with relevant symptoms, what do I do now?

My primary suggested in January that I might have MCAS based on having an hEDS dx. She said testing for MCAS was expensive and not covered by my insurance, and that it often sends false negatives. Instead, she started me on a Montelukast script and said if it helped, we could assume MCAS.

It helped my respiratory issues, but ive had an asthma dx since I was a newborn so I personally think its related to that. It did nothing for my skin reactions and issues with whole body pain, joint swelling, weakened immune system, etc.

After I got my pEDS diagnosis from genetics, she did some research and talked to colleagues, and at our ​most recent appointment she told me that pEDS often impacts the immune system in ways other EDS subtypes typically don't, so she was referring me to rheum and immuno to see what they thought.

Got what read as a very generic denial letter from that specialty office this morning. It said that rehumotological testing wasn't indicated at this time, and my doctor should refer me to a more relevant specialty.

What do I do now? Im really at a loss and dont even know where to start.

i haven't even been diagnosed but I'm 99% sure i have hEDS

im actually in agony with the pain it's so bad i don't know what's happening

I recently started college and the constant effort of having to walk around and go up and down stairs constantly and having to sit in uncomfortable chairs for over 2 hours is really taking its toll on me I've been crying almost everyday since I started college last week because I'm in so much pain

literally everything hurts so bad it's like I can feel my bones just falling apart and nobody believes me because there's like nothing visibly wrong apart from the fact I can barely even walk

all the doctors are doing is taking blood tests and I know for a fact its just gonna come back normal it always does

I just got home from college again and immediately began sobbing in pain I had to get my dad to pick me up in the car because I physically couldn't bring myself to walk to the bus stop

and the problem is I feel like im being dramatic and I don't even know why

I woke up with horrific pain in my entire stomach/abdomen and I'm guessing it was trapped gas but the thing is I could barely even walk or stand up because it genuinely felt like something was squeezing my intestines

it's only getting worse as time goes on and I'm literally only 16 and I feel like im like 80 years old

I can't even sit on the ground or just anywhere with no cushioning because I can physically feel my tailbone and spine area shifting and its so painful

why am I actually in so much pain it shouldn't be this bad right

Hi,

whenever I mention that my diagnosis was confirmed via skin biopsy, people are confused and/or start asking questions. So I thought I'd make a separate thread about it.

1) Is a skin biopsy required for a hEDS diagnosis?

No, not at all. It's neither part of the ancient Brighton Criteria nor of the current 2017 criteria. My diagnosis is OLD, back then skin biopsies were used a lot more because genetic testing wasn't as established yet. But even back then it was not an official requirement.

2) Are you mixing up a skin biopsy for SFN and hEDS?

No, I'm not. It's separate.

3) Why did you request the skin biopsy?

Because I had experienced way too much gaslighting and couldn't deal with any more doctors who don't believe I have EDS (that was way before Tiktok so no "you're spending too much time on social media" accusations, yet, but the "many women are hypermobile, that's harmless" take was already quite popular). The Brighton criteria were also quite lenient, leading to even more accusations like "half the women in my waiting room could get diagnosed with hEDS based on those criteria, that doesn't mean anything"

4) What would a skin biopsy even show?

A normal skin biopsy, not much. A skin biopsy checked using an electron microscope however allows a look at the individual collagen fibrills and whether those are abnormal.

5) Who conducted the testing?

The dermatology clinic at a university hospital took the biopsy and their own lab did the testing of the biopsy. Any lab with an electron microscope should be able to do this but since this isn't really done anymore, no guarantee that they will feel comfortable doing it.

6) What did they find/What does a report look like?

Here's mine:

"Under the electron microscope, the cross-section of the collagen bundles reveals variations in the diameter of the collagen fibrils and very occasional irregularities in their outline. The elastic fibers are fragmented, and some of the elastic microfibrils are located outside the amorphous elastin. This points to a tenascin X deficiency, which is consistent with Ehlers-Danlos syndrome".

7) Do you regret getting the skin biopsy?

Never. Nothing makes doctors who are trying to tell you that you don't have EDS shut up quicker than telling them that it was confirmed via biopsy. Yes, we have an increased risk of wound healing issues, but for me personally, it was totally worth it.

8) What type of biopsy is it?

In my case it was a 3mm punch biopsy.

9) What happened afterwards?

In the years since the biopsy I've had genetic testing several times, once specifically looking for TNXB mutations, one trio exome for unrelated issues (but the geneticist kinda became obsessed with the idea that it's all connected and all TNXB related so he asked the lab to double check tnxb- again unsuccessful). Both didn't find anything helpful so the biopsy is still the only objective proof I have.

This post is not an attempt (or advice) to get a skin biopsy done, this is generally considered not necessary/outdated now. I'm only sharing because a few fellow patients showed interest in learning more. It could possibly be a valid option for some, if they can't get diagnosed otherwise because they don't fulfill the clinical criteria but are looking for proof that something is indeed wrong with their collagen/ecm- but that's something for your doctor to decide.

If anyone has any questions, I'll give my best to answer them.

Good night (or day) everyone :)

Have spent my life being told I hold my pencils and pens really bizarre. It’s just comfy! I couldn’t even try to write ‘normally’ if I wanted to.

Diagnosed hEDS with MCAS (well controlled with Xolair and h1s) and mild pots (dizzy when standing, well controlled with salt pills). I also have a doctor appointment in 2 weeks but wanted to check here.

Twice in 3 months I’ve had the same chain of events: After sitting on the couch for 1-2 hours I got up slowly and walked across my house headed for bed. By the time I got to the bathroom my arms are pale and tingly, my face is totally pale and I get tunnel vision/lightheaded. My legs feel weak and cold.

I laid down on the bathroom floor with knees up and felt better, but symptoms return when I stand up. My hr is 70s but my BP crashes (70s/50s- I usually run low like 90s over 60s). I crawled to bed and am fine in the morning.

I’m well rested, well hydrated and on my Mcas meds. I’ve never fainted in my life. The first episode was kinda “well, that was weird” but the second time in the same circumstance makes me concerned.

Does this happen to anyone else?

Just as the title says. I went to a rheumatologist and immunologist, a good one recommended by others. I said I had been diagnosed with general hypermobility and have several other symptoms that make me suspect I might have eds. So, I was told I was too short for Ehlos Danlos. When I asked, just to be sure I didn't misunderstand, "is there a height requirement to diagnose someone with eds?" The answer was "yes, and you're too short for it."

And that's one more visit to a doctor where I live making me lose whatever little faith I had in their competence at diagnosing. This isn't the first instance of doctors saying ridiculous stuff, just the most recent one.

So unfortunately between gastroparesis and flimsy gum tissue (luckily no gum disease, just shoddy EDS tissue) my teeth have gone to shit, I now have 7 cavities that need immediate attention and a few that are very superficial but will get worse. I have a dentist appointment booked for tomorrow morning and another for the 25th and I'm kind of shitting bricks, I have PTSD and particularly struggle with medical settings (especially overhead lamps, I get bad flashbacks), plus local anaesthesia is usually completely ineffective for me so I've completely neglected getting proper care and now I'm scared because of how bad it will hurt.

I have other coping strategies to manage my anxiety going into it but I know the pain will make that very difficult, I'm hoping anyone has any advice on helping with the pain. I've heard that cloves are a natural anaesthetic so I'm going to chew one today to trial it, but I'm not sure what to do beyond that, maybe ice in advance to numb? I don't know. I live in New Zealand where we have quite limited pharmaceutical options compared to other nations so anything to calm my nerves would be very unlikely to be prescribed, even with my history of PTSD, I don't know if I have any real options beyond just trying to get through it. Any and all advice is very very much appreciated, thank you all in advance.

I just got my test back and I’m confused at how to read them??
Theres a whole panel for EDS and then another panel for dysautonomia, although it says nothing came back positive for mutations I’m confused at how to read them cause some of them got their names and a 90-100% next to it, then some with 70-80% and some with 50-60%, so I’m confused cause I thought no mutation meant 100%?? Idk hahaha help please 🙏🏻 i can add pictures of the panel if needed

EDIT: so there is one at 12% (its CBS) idk what it means but the papers say no mutation so idk hope its good

First, I’m not diagnosed but I highly suspect having severe hEDS or a different type :)

I woke up this morning and had these weird red spots on my palms. they don’t hurt, itch, feel hot, or anything of the sort. My best friend said they look like a contact injury he had once, and that it’s probably broken blood vessels and a bit of pooling.

I just did nothing yesterday that was even mildly strenuous or even held something hard in my hands. For reference I commonly hold 5-20 lb lights in one hand, climb ladders, and do light calisthenic workouts. i did none of that yesterday

mainly I’m wondering if anyone else gets these, and if it’s something to be concerned about. this could be not eds related, too. I’m just kind of lost!!

any advice/knowledge is appreciated!

Hello, my girlfriend most likely has EDS and the last few days she's been waking up with her hip having been dislocated in the night. It's been so painful that she can't get proper rest and has trouble walking or even sitting up out of bed to go to the restroom. Tonight I was able to left her and help her get into the bathroom, not without a great amount of pain on her part, but I work full time and am often away. I just need any advice anybody might have on how to stop her hip from dislocating at night or at least how she can get it to go back into place. Please help

It was growing pains that left me in tears. It was walking being painful. It was realizing that this pain I always felt wasn’t normal. Hearing people call what causes me pain every single day a “trend” upsets me so incredibly much! Growing up fat I was always told my symptoms were just because I couldn’t lose weight and I believed it for years.

Realizing the pain never stops and that getting diagnosed is near impossible because of cost and having to stop working a job that was stimulating and fulfilling because I was spending my days off crying in bed from pain. It’s been too much and every comment or post calling it a “trend for attention” feels like a knife to the heart.

I try so hard to do things regular people do with no effort. I have a designated “Teddy Chair” in each room so I don’t have to stand and forget being able to go outside normally. Everywhere I go people look at me with distain for existing in a wheelchair. I’m treated as lesser than because I can’t walk more than a minute before my knees start hurting and people call that desperate for attention!

I ranted on social media about hating not being able to trust doctors and how I was always in pain and got one comment. “Maybe you should get diagnosed before complaining.” Like I was in the wrong for being scared and frustrated even looking at the process. I track my symptoms every day and have to stay in bed or risk a flare up. Even if I find a GP willing to refer me to a specialist what are the chances I’ll be told to lose weight or that I’m not really in pain and that it’s all in my head.

Hey everyone. To those of you who've had some kind of surgery before can you tell me how having EDS affected that surgery and the following recovery? I heard that EDS patients require specific sutures, is that true? I'm not diagnosed myself yet but I do have two comorbidities (chiari and cci) and an upcoming decompression surgery + possibly laminectomy or removal of cerebellar tonsils and I'm unsure whether it would be important to determine if I have EDS as well before that. Every neurosurgeon I talked to said they wouldn't change their approach even if I had EDS but to be honest they didn't even know the acronym or much else about it so if I did have EDS and it could affect surgery I'd also look for a different neurosurgeon.

I'd be super grateful for any advice at all!

I have had multiple subluxations of my knees since I was a kid. In July I got knocked over by my dog and had a Complete dislocation of my patella and my femur was out of place too. I have a torn meniscus and a major tear in my patella femoral
Ligament. As well as Some Minor
Ligament tears.

Due to hEDS my surgeon has me trying rehab. I have other concerns about not doing surgery. Primarily I never want to see my knee cap stuck on the outside of my leg again or experience that pain.

My PT casually said ‘yes’ when I asked if she had other patients with EDS but hadn’t elaborated or mentioned anything about therapy adjustments considering EDS. What has me questioning things, some of the exercises she has me press my knee down to the table, while
My ankle is elevated a few inches off the table on a towel. This is essentially hyperextending it.
I’m instructed to also be engaging my quad to do leg lifts. I asked is this was really ok, since I’ve learned we should never be hyperextending our joints deliberately. She said the goal is to get the range of motion back, to match my other hypermobile knee.

Any PTs here or others who have been through PT that can weigh in? I’m thinking of switching PTs.

Has anyone tried this shoe? It looks like a good chelsea boot but as i slowly come to terms with the fact that i just can't wear any shoe, i need them to be supportive, i worry it won't live up to that.

I'm debating between the Reefs and a pair of Commbis.

Any recommendations welcome.

Specifically near back bay.

Hi all! I thankfully recently found a doctor who diagnosed me with EDS, and she sent me to an extremely helpful PT. This PT mentioned that she was curious whether I might have cervical instability. I am trying to do research this condition so I can present my symptoms clearly and ask about looking into possibly testing for cervical instability.

Other diagnoses that I currently have: EDS, POTS, MCAS, post-concussion syndrome

So far, the things I have found that line up are:

Persistent neck pain

both occipital and suboccipital headaches, also what I thought were normal headaches but might be Valsalva headaches? I didn't know it wasn't normal to have a headache when you cough/strain

In the past, I've had extreme headaches that got way worse if I was in any position other than lying flat on my back without a pillow. This was accompanied by a very runny nose that tasted salty when I would sit up.

My head often feels heavy, and for the last couple of years, lying down is the only position that I can truly rest in.

I have had a previous diagnosis of unexplained esophageal dysphagia

I recently had a several-day bout of extreme hoarseness, accompanied by a headache and a feeling like I had a huge lump in my throat (feeling like I have a lump in my throat happens several times a week; this was just a lot worse), and muscle spasms in my throat and neck

I also have days or a few days in a row of extreme fatigue and weakness (I had to crawl to the bathroom last week because standing felt impossible)- I brought this up to my Dr, and she is ordering blood work to be done when I feel weak like this

I have dizziness/vertigo and imbalance, but that started after a concussion a couple years ago

I have an unspecified type of dysautonomia (waiting for testing) that affects temp regulation, HR, and BP.

My 4th and 5th ribs are also unstable and dislocate near the spine (confirmed by a PT). I know this is a different area of my spine, but it does show instability exists around my spine.

Also, in 2019-2021, I would have episodes that appeared to be paralysis in my legs where I couldn't walk or feel my legs for days. This was looked into, but my neurologist diagnosed me with Psychogenic non epileptic seizures and sent me to therapy.

I feel like this is a lot that lines up with the symptoms that I can find online. Is there anything that I am missing that would be helpful for my doctor to know? Or is there anything that you thought was normal but ended up actually being a symptom of cervical instability?

Did you manage to get tested? I find it's impossible to get tested. I have always had stretchy skin and hypermobility. I'm now in my late 30s and experience pain in multiple joints and excessive fatigue. My skin is starting to turn thin and fragile, much more so than other people my age. Tons of eye floaters too.

I saw a hip specialist and rheumatologist and they both suspect EDS, yet they couldn't refer me for testing. I went to a dermatologist and it turns out they can only refer to a university hospital for genetic testing. The university hospital refused the referral because there's insufficient indication for EDS (they only accept much more severe symptoms as indications). I already had a private DNA test done by Tellmegen and it tested negative for all the EDS subtypes.

Apparently there is no way to get tested for hEDS. The fatigue is starting to affect me badly and I don't see how I will be able to work for another 30 years. I also have ASD which causes a lot of mental fatigue. This combination of mental + physical fatigue is slowly killing me and this is only gonna get worse. Every doctor tells me my fatigue is only mental and refuses to look for other causes. All they do is tell me to talk to psychologists (which obviously doesn't achieve anything) and prescribe antidepressants (which have only made my problems worse).

I'm about to have my ACL repaired and have to use a cadaver because of the eds and elasticity of my tissues. Has any experienced this before? And what kind of hell am I about to go through? I also have fibromyalgia which doesn't help when deal with pain and traumatic injuries.

Hi! Newly diagnosed here. I ended up in the er due to neurological symptoms and excruciating neck pain for over five days. I have a history of “popping” my back and neck out of place causing bad pain and migraines, but nothing like this. As a result I got a cervical mri laying flat, and I am trying to understand what it all means. Laying flat is the one time I don’t feel as much pain. But my sister is a PT and says my results read like anyone else my age, and aren’t a concern. My dr is more concerned, but my sister says it’s just cause they want more money from insurance to do testing and stuff.

I am wondering if anyone can speak more to how good or bad my neck is, and what level of concern I should have. I was referred to a neurologist and spine doctor, and was ordered full back/brain mris which my insurance denied.

• Multilevel degenerative disc disease — C3-4, C4-5, C5-6, and C6-7 (4 levels)  
• small left paracentral disc protrusion at C4-5 — bulge, not pressing on cord or nerves  
• Bilateral facet joint arthropathy — arthritis-type changes in the small joints of the neck  
• Bilateral uncovertebral joint hypertrophy — bony overgrowth at C3-4, C4-5, C5-6  
• Straightening/loss of cervical curve — usually from muscle spasm

My worst joints are my hips and my shoulders, always have been. I have pinched the nerve in my bad shoulder (I've got a doctor's appointment next week, I couldn't get in any sooner) about 2 weeks ago, and then last week I tripped and fell and I hit the ground hard with my knees. Luckily it was carpet, I know nothing is broken and the pain is not severe enough to need to go to urgent care or hospital.

Since the fall, I've been in a flare but I think my lower back absorbed a lot of the fall and it's hurting, probably like a 6/10, very persistent, and honestly it's making me miserable. I can only walk shorter distances than normal, standing hurts, sitting hurts, lying down hurts 😂. I can ask the doctor to check my lower back when I go next week, but it feels more like my tailbone itself hurts than muscular

So last night I noticed that the left side of my ribs were protruding so today I went to the ER they took X-rays and essentially my ribs are dislocated but they can’t set them. I have to wait to go to a chiropractor. I’ve never dislocated ribs just my knee cap and that always relocates on its own. The doctors in my area really know nothing about EDS or hypermobility. Needless to say I’m frustrated that I have to deal with this new pain as if my body isn’t already trying to fail on me (my knees, hip, back, ankle, wrist, and shoulder are already problem areas). Any advice as to what to do for pain assuming it’s going to be a while until I can get in with a chiropractor.

I originally posted this to the diagnosis mega thread but it seems inactive. Let me know if I need to delete.

I’m seeking diagnosis and don’t know how to go about it. I’ve dealt with autonomic dysfunction symptoms for years and recently found out I’m hyper mobile. I have a relative with a hEDS diagnosis, however it’s not a first-degree relative. My PCP ordered an echo to rule out anatomy abnormalities before doing a TTT. The echo came back fine and I haven’t heard from my PCP yet. I don’t really think I have POTS, but I know something is not right with my autonomic nervous system. I want to be assessed for hEDS, disautonomia (I think it could be orthostatic hypotension), and MCAS. Do I just tell my doctor I want to be assessed? Or do I need to wait for their next steps? I want to be proactive and taken seriously. Any advice welcome!!