u/Jolly_Interest_3433

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! 🫶

This is something I have always wanted to ask people with rare EDS types that cause significant skin hyperextensibility, I have a very odd situation going on with one of my upper arms but this does not happen anywhere else.

I have generalised moderate to severe skin hyperextension in pretty much all of my body but there is one place that is quite miss matched, my upper arms have by far the most severe skin stretch and stretches a good 3/4 inches, sometimes more but it’s only very severe on my right upper arm for some reason.

On my left upper arm my skin stretch is only moderate and doesn’t lift as easily, isn’t as doughy either. On my right arm it is severely hyperextendable and lifts as easily as butter, my skin completely lifts off my limb and is very clearly doughy and abnormal, my skin is almost loose in a way? I don’t use my right arm more, in fact I use my left arm more but the difference is clear and unusual.

Does anybody know why this happens? Is it because my left upper arm has significant scarring?

This is just out of curiosity, not asking for medical advice, just wondered whether others who have similar degrees of skin hypertension also experience this.

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

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

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

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

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

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

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

Please tell me somebody else has had this.. observation about their orthotic devices.

If you know, you know.

Why do they make them look like this or is it just me who’s noticing it, I picked up loads of my orthotics today and noticed immediately that not only do they look like medieval torture devices but they also look suspiciously like something that needs a safeword.

Tell me why my wrist braces for sleep dubbed ‘immobilisation’ wrist braces are black fleece lined with 4 black Velcro straps and a thumb restraint? Was the thumb restraint really necessary? Was the design choice giving something other than medical brace, yes. Do my sleep ankle orthotics also look like they definitely clip in somewhere, yes.

Why? I don’t know.

I feel like somebody somewhere must have noticed because if somebody walks in on me in the morning with both wrists in these dubious mittens then nobody is going to think ‘oh yes, these are just his medical braces’ are they? No. Nobody will think that.

I can also not remove them by myself so somebody basically has to ‘unlock‘ me in the mornings as they completely immobilise my hands. Is this just a me thing or has somebody else noticed this too?

I’m honestly desperate for any help or advice on what I’m supposed to do in this situation as I’m at a completely loss and have no idea who i can see who will actually be able to provide me any type of answer. People in this group will probably have the most knowledge on what I should do or who to see, I swear you are all like mini genetic detectives.

Everybody in my care separately questions and thinks hEDS doesn’t explain the issues they are independently seeing from me and the diagnosis doesn’t tell them how to manage me either. My genetic testing results were clear but the lab states it has technical limitations with TNXB.

I have a very muscle dominant presentation that genetics felt was still unexplained, I have significant low muscle tone (hypotonia) and global muscle weakness alongside what looks like muscle wasting and brisk reflexes. Orthotics also thought I had fixed and stiff ankles with limited movement (possible ankle contractures). I feel my hypermobility is secondary and the least impactful for me.

I was born with congenital flat feet, have extremely stretchy skin (over 3 inches in some places) with a complete absence of atrophic scarring (only hypertrophic and a few keloids), my skin is very fragile and splits and tears easily and bruises spontaneously without injury, very doughy skin texture, premature aging of hands, slow wound healing causing infection etc

I have severe progressive eye manifestations that my EDS informed opticians felt they could not explain, was being investigated for a vascular fragility incident, mildly curved toes, fragile mucosal tissues which cause significant bleeding and I have a complete absence of family history apart from a VERY distant singular relative being born with congenital hypotonia and hypermobility.

My bowel also just stopped working 4 months ago for absolutely no reason and I have significant GI issues and rectal bleeding from tears in my GI tract every five minutes 😐

Nobody else has any CTD manifestations in any of my family lineage (not even mild) and nobody else in my entire family history has hypermobility apart from that very very distant relative. The only things my mother and her sister do have is mildly brachydactyly and mild snydactyly and all of us have sacral dimples but the genetics said this was all unrelated.

What am I actually going to do in this situation because nobody in the NHS is taking any responsibility of finding out what this actually is or helping at all? I’m literally crying right now because I have no idea what to do or who to see, where I’m supposed to go for somebody to actually find out what is wrong with me. I’m terrified because clearly there’s something going very wrong here.

I also have a pulsating abdominal mass in my aorta region after a suspected AAA but the ultrasound showed no aneurism but vascular surgery and radiology still felt it was abnormal and too strong to just be nothing. They suggested vascular type EDS but I was already tested and have no COL3A1 variants.

Are there any specialists in TNXB in the UK or somebody that you can suggest who can actually deal with situations like mine who can revise my diagnosis to something that’s accurate or just any clinician you can recommend that I can see privately. I’m literally open to any and all advice at this point, I’m guessing everyone in this group will be able to give more meaningful advice as you guys have a variety of subtypes and a whole host of unknown CTDs here.

I have an absolute bone to pick with my GPs at the moment. The past few days somebody has been changing my diagnosis and health conditions and also changing them from active to past for absolutely no reason in my NHS records.

Firstly i literally have a diagnosis of hEDS confirmed by clinical genetics, my GPs have the bloody letter although this is no longer the working theory since I have additional and unexplained symptoms but in my nhs notes somebody I have never seen before has been writing my diagnosis as ’hypermobility syndrome’ and also hEDS (unconfirmed) even though it is confirmed and in my records.

Somebody has also went into my hEDS diagnosis and changed it to “Hypermobile Ehlers-Danlos syndrome (Combined with abdominal bloating)“ when it used to be just hEDS for no reason?! What relevance does bloating have to my actual hEDS diagnosis?

The same person also went into my diagnosis section and changed my official records of ‘impaired mobility’ from active to past when I still have impaired mobility, changed my diagnosis of chronic constipation to ‘constipation-functional‘ and marked my chronic constipation as ‘past’ and marked the new functional one as active when I have never been diagnosed with a functional bowel disorder and do not have functional constipation, nor is anything containing the word functional ever in any of my records 😐

They’ve noted and randomly added ‘Functional disorder of the urinary bladder’ when I’ve never been diagnosed with a functional disorder of the bladder or even yet had any tests on my bladder at all or my bowel for that matter. I literally have suspected IBD too, my constipation is not functional 🤯

They changed my pulsing abdominal mass which is literally a small aortic aneurysm to ’past’ when news flash, it’s still there 😭

They are continuing to edit and change my diagnosis after contacting them about the fact these have been randomly added without any evidence or explanation and me wanting them correcting. Why are they doing this?

Im so tired of people writing bullshit they know nothing about in my records! I could just scream. Does this happen to you as well because at this point my entire life is just a joke because how on gods earth are people just adding and editing diagnosis based off nothing at all?

Hello all, I don’t usually post a lot in EDS groups or anything but I really wanted to connect with other people who have predominantly muscle related EDS manifestation’s and your actual diagnosis. I also wanted to ask for advice on any really good EDS experts in the UK who deal with all subtypes, not just hEDS.

I feel like my main manifestations are with my low muscle tone (hypotonia) and global muscle weakness, so I wanted to ask whether other people also have this and what type of EDS you’re diagnosed with.

I just feel misunderstood a lot of the time and don’t really know what to do or where to go diagnosis wise anymore since hEDS doesn’t seem to explain any of my symptoms and I already had genetic testing for all of the EDS subtypes including myopathic type and nothing showed.

I also have fragile skin and an absence of atrophic scars. My skin is very stretchy. My eyes are also heavily affected but I feel like my hypermobility is for me secondary and not my main problem even though it’s the one everyone seems to focus on and mention most which is frustrating for me.

I need help on finding the right expert to go and see so I may be able to get WGS or WES to find out whether there is a certain gene responsible as I’m at a bit of a loss with a hEDS diagnosis. I also have suspected ankle contractures and an absence of any family history of any CTD features at all other than one singular VERY distant relative that was born with congenital hypotonia and hypermobility with similar skin features.

It would be nice to hear from people with different subtypes and I would really appreciate some advice right about now or recommendation’s for doctors that may be able to help me. It would really help if somebody with a subtype of EDS took an interest in talking to me about their opinions as a lot of you guys are like little genetic detectives.

Hello, I don’t usually post on Reddit but I realised i am in need of community at this moment. A few months ago I was diagnosed with hEDS but my presentation was unusual and it didn’t add up. I was told specifically ‘hEDS does not need vascular monitoring, you do not need vascular monitoring’ when I asked about it as I had a not very hEDS presentation so I was discharged and barred from EDS services since hEDS in my country is not dealt with.

Anyway yesterday something was found that could potentially save my life. I am 17 and I was seeing a specialist paediatric surgeon and he found what he believes to be an abdominal aortic aneurysm. I had no idea that he has seen vEDS patients before and that several people my age had come into his office with abdominal aortic aneurysms who were later diagnosed with vEDS before.

He‘s getting emergency imaging done, he said probably CT scan since we don’t have time for an ultrasound at his children’s hospital and that he’s contacting radiology to get it sorted. He told me he suspected I may have vEDS and talked with me about it, he also told me I would be well looked after and assured me that there’s a wonderful team of specialists who take care of people like me if the imaging confirms it for sure although I could tell he already knew what it was…

I just wanted to talk to other people that have vEDS because it’s a very scary time for me right now, I’m not allowed to do any strenuous activity or get stressed and have to call emergency services immediately if I feel unwell in case it ruptures.

I think I definitely have a new appreciation for what people and parents of children with vEDS go through everyday now, I’m only suspected of having vEDS but it was quite a shock as it was only found coincidentally. It’s hard not to think of the ‘what ifs‘ since my GPs have been ignoring me and the fact I have this abdominal mass that has a heartbeat in my tummy so I never had imaging done on it.

Please tell me if this post is not allowed as I don’t have a diagnosis of vEDS. Thank you for listening to me