r/rareEhlersDanlos

TLDR: confirmed peridontal type, markers suggesting classic type as well. 27NB/ trisomy X intersex.

Ive always felt my symptoms matched most closely with classic type. Two of my siblings have been confirmed with peridontal type and another confirmed with classic type, so when it was finally my turn to get my genome sequenced (I waited 18 months, despite having a sibling with BMD and another with downs syndrome!) We werent really sure what to expect. My primary care was content to give me a hEDS diagnosis and leave it there, but my siblings' genetic councilor pushed me to get my genome done too.

I dont really deeply understand the difference between levels of sureity, but they are certain my genome is changed where theyd see a pEDS change, but in a way that isn't well documented*. They said the cEDS change wasn't so definitive, but since there is a change, I meet so many diagnostic markers, and have a genetically confirmed sibling, they'd give me both diagnoses.

When im talking about this going forward should I say I have pEDS? cEDS? Both? Just EDS? Should I use different language for specialist doctors vs urgent care nurses vs other zebras? My symptoms present closely with classic type, and I dont have the plaques on my knees often seen with pEDS (yet?).

How do you navigate a dentist with pEDS? They've been so cruel to me for years about my teeth health that I just stopped going. Thats clearly not something I can keep doing though.

How do you find a PT that can help you? How do you get approved for PT with insurance? My insurance only approved me for 12 sessions in 3 months, and I only used 8 of those sessions but my 3 month window closed so now they say I can't see PT until 2027. Does having the EDS diagnosis change those things (initial referral was for orthostatic intolerance and wheelchair skills development)?

Lastly, I know pEDS is particularly rare... is anyone here diagnosed with it or knows someone who is? What should I be prepped for that general EDS advice might not provide? How do you navigate everyone saying "so you have eds... but only in your teeth?"

I (31F) had a bilateral vertebral artery dissection this April after a massage resulting in an ICU stay. I’m hypermobile so I thought I probably had hEDS, but I never thought there was a risk of vEDS… I was shocked when I was diagnosed last week based on genetic testing and my dissection history. 

I have a VUS (c.898-14A>G (Intronic)) on the COL3A1 gene, but based on me having two dissections they made the diagnosis. The genetic counselor said there are other reported cases of people with this variant who have vEDS or related symptoms. I don’t really understand how much data is needed to confirm this particular mutation is pathogenic, and the genetic counselor was unable to clarify. The genetic results also said it's very highly likely it disrupts the splice site, which she said is the most severe type with higher mortality, so the already low lifespan expectancy is probably even lower for me since the estimates aren’t aggregated based on mutation type…

I feel extremely sick and very mentally unwell. I have a 1-year-old daughter and the thought of not being there for her or passing it down to her (I can’t get her tested until September/October) is making me sick. I can’t get it off my mind. 

My question for you all is how did you get through this?? I feel like I’m wasting my limited time here on earth being upset and I feel dissociated and I don’t know how to get out of it. I imagine that the strong feelings will probably come and go forever, but how long did it take you until it wasn’t something that’s constantly on your mind? 

I also feel like I’m grieving… I might not get to be there for my daughter as she grows up. My daughter’s whole outlook on life might be changed. I would need IVF if I have another child, which I wanted to, which is financially unobtainable right now. I can’t do my favorite exercises/hobbies ever again (which are normally my greatest coping mechanism) (boxing, mountain biking, snowboarding, weightlifting). I won’t get to retire and travel and be a happy grandma someday. (I know some of these probably sound silly, but I’m upset) 

How did the diagnosis change your life plan? I feel like it’s dumb for me to be saving for retirement when there’s a low likelihood I’ll even live that long. But then also if by some stroke of luck I do live until retirement, I don’t want to be stuck with no funds… 

If you read this far, thank you. I’m sorry for the rambling–I needed to get this out. A few months ago I (thought I) was a young, relatively healthy, fit individual and this has all been so unexpected and devastating and I really just can’t wrap my head around it. 

If you have hopeful stories of people living longer with splice mutations, please share. I feel very very alone and afraid. I know living in fear is not a good way to live and that no one knows how long they have, but I need to know that there’s hope at the end of the tunnel and how long it took others to adjust. Also, if you have any resources specific to vEDS that you found helpful (books, podcasts, etc.) please share. 

Thank you in advance. I’ve seen so many stories of resilience in this community already. 

I don’t know if this post is a vent, or for advice or just anything really but thanks if you do read it 😊

For context: 25F. Brighton 7/9, scoliosis (early onset), flat feet, very blue sclera, velvety skin thin with visible veins, atrophic scarring, hearing difficulties in mid 20s, partial subluxations, chronic migraine, dental issues as child, 2 fractures before puberty, small hands and they are ageing quickly.

Recently I had genetic testing done (NHS R101 EDS panel) but was told many times (by a geneticist, rheumatologist and physio) there was not much point as would likely ‘come back with no result and just be hEDS’.

I just received the genetics panel report via email and it says heterozygous pathogenic COL1A2 variant: c.380G>A, p.(Gly127Asp). The laboratory report says this confirms COL1A2-related osteogenesis imperfecta.

I then received a letter from my geneticist consultant saying that COL1A2 changes are typically associated with OI but that people can also have features of EDS, and she thinks the finding is likely to explain my features. In the meanwhile she has asked the national EDS diagnostic service if they would accept my referral.

I don’t get to see my geneticist consultant until the end of September (NHS) so I am just sat here a bit confused with the information I have.

I don’t really know what to ask you guys, as I wasn’t expecting this result. Does this mean I have two separate conditions or are they mixed into one? Also in the UK can people with this finding have follow ups with a healthcare professional? (I know with the Hypermobile type in the UK no department really deals with it so I wonder is it the same for this gene?)

Thanks so much if you read this and have any insight, or just anything to say. Have a lovely day.

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.

Hi, i am 21F, and i have a very strange situation,and i want to find people who have a similar situation

I was born very sick, and doctors couldn't understand what was wrong with me. I was diagnosed with kEDS based only on clinical criteria in 2017 (because back then there was no genetic testing available in my country,Ukraine.) Then in 2024 i did a genetic panel for EDS that did not show anything, hovewer based on my severe symptoms my geneticist suggested i should do a whole genome sequencing. Fast forward to 2026,i am now in Germany,and here i did Whole Genome Sequencing in Leipzig University Clinic. It did not show any mutations,but the committee of doctors in Leipzig University Clinic think that i have a possibly undiscovered connective tissue disorder/subtype of EDS extremely similar to kEDS, and that they just don't know the gene for it yet. They don't think it looks like hEDS (though i am not saying it can't be hEDS)

I will list my other conditions and symptoms below:

• joint hypermobility with subluxation, marfanoid habitus, congenital muscle hypotonia, congenital bilateral hips dislocation and bilateral hip dysplasia

• POTS

• severe dysmotility of entire GI tract (gastroparesis, slow motility constipation resistant to all medication, GERD)

• dolichocolon (redundant colon), visceroptosis

• neurogenic bladder

• high level myopia, astigmatism, lazy eye, strabismus, blue sclerae, retinal angiopathy

• B12-folic acid deficit anemia, hyperhomocysteinemia, folate cycle mutations (MTR 2756 A>G, MTHFR 677 C<T, MTRR 66 A>G)

• Osteoarthritis, Osteoporosis (mutation in COL1A1), planovalgus feet deformity, pectus excavatum, stage 3 early onset kyphoscoliosis

• MCAS, atopic dermatitis

• mitral valve prolapse, trombophilia

• chronic kidney disease stage 2

Does anyone else here have invisible veins? My veins are so small they're basically invisible. I have about 4 In my entire body that can be seen. Blood draws are impossible, and half the time my veins don't have blood (I've been told it's a pots thing 🤷‍♂️). I'm curious if anyone here has invisible veins instead of super visible ones.