Hi! I wanted to ask and see if anyone knows of any spaces for vascular ehlers danlos syndrome? Ive recently started posting on instagram but I would love to connect with others who are diagnosed with veds or even other eds subtypes!
For context: I have a VUS in the COL12A1 gene that is so rare only 2 people worldwide have it which leads to no research and re-classification. Based on my symptoms and medical history my doctor suspects Bethlem Myopathy type 2 or EDS - myopathy overlap. There's not really a dedicated subreddit so I hang out in here.
Anyways I have a few questions that don't leave my mind and little to no answers. Looking for someone with similar experiences and more answers than me. I'd love to learn more so I can understand my body better.
Question nr. 1: I have bladder issues that make my life quiet hard. Reoccurrent UTI's and issues with emptying. I always had problems but they got significantly worse in the past few years. I almost never can pee without pressing on my stomach/bladder. If I don't press my bladder can't empty entirely. That issue also causes bladder retention despite drinking lots of fluids. For a while I thought I had a slight bladder prolapse but I think it's something with the muscles. Has anyone with mEDS or another muscle related disorder experience this?
Question nr. 2: Can muscle related genetic conditions affect stomach and intestines and it what way? I have horrible gastrointestinal issues. They started in 2024, I ended up in the hospital then but they didn't found anything in the endoscopy or ultrasound. Problems returned a year later but much stronger. So many symptoms related with gi tratct. Doctors said it could be gastroparesis or CIPO or both. Got diagnosed with unspecified intestinal dysmotility then gaslighted and dismissed in another hospital by doctors telling me it's psychosomatic and all in my head. That hospital admission traumatized me so much I barely looked for help since then. Since beginning of this year it got even worse, I lost lots of weight, my constipation got so bad to the point of taking laxatives to avoid a bowel obstruction, I was told by my GP it's probably some form of malabsorbtion due to my meds not working properly anymore. Procrastinating taking a referral to a hospital specializing in diagnosing and medical nutrition due to trauma. I'm also scared because I don't know what to expect, I want to have some picture of what could be the reason for my body acting that way.
Question nr. 3: Skin manifestations. I thought I had hEDS for a long time but one thing never really aligned with hEDS features. I experience extremely easy bruising and abnormal skin/tissue fragility. Bruises come from nowhere or appear after touch/pressure for example kneeling for a few minutes. My skin often tears and is very prone to wounds. Combined with my high pain tolerance I often catch myself not feeling anything unusual until I look on some part of my body and see blood. Sometimes someone points it out and I'm extremely surprised because I don't recall anything that could've caused it. I'm very prone to scarring as well. I get scars from the smallest cuts ever or even cat scratches (I have 2 cats). My scars are mostly hypertrophic and keloid which is also unusual for hEDS and never made sense to me. I'm conflicted about how BM or mEDS can affect skin. Some resources say it is not typical, some say it absolutely can happen. So what's the truth?
I know it's a lot of asking but possibility of this diagnosis is still "fresh" so I'm just trying my best to understand my symptoms while waiting for further testing and results. I lived with sureness of having hEDS for years and this is something completely new to me, I'm just trying to wrap my head around this. Not looking for advice, just trying to learn about all of this and determine what are the facts.
Hello all! I recently had a genetic test done through GeneDx and got these results. I had a follow up with a genetic counselor and she told me that when she saw the results she questioned GeneDx's interpretation of the results, which to the best of my understanding means she wondered why GeneDx gave greater weight to the COL12A1 variant (listing it as causative) and lesser weight to the COL6A1 (listing it as possibly associated w/). She spoke to them and they said they stand by their assessment but the counselor said that when she pressed them on it, they admitted that if they had not found the COL12A1 variant first, they would have listed the COL6A1 as a dominant variant. She said she believed I had both variants, which I guess would be almost unheard of, but she firmly believed that was the case.
All that said, I understand that collagen 12 and collagen 6 have a lot of overlap and that COL12A1 disorders are listed as myopathic Ehlers Danlos/Bethem Myopathy 2, while COL6A1 is often referred to as Bethlem Myopathy 1. I guess my question would be - does anyone else have similar results and if so, is there any way to predict how it will affect me? I'm asking because, to the best of my understanding, you can have stable or increased muscle function across time with mEDS but Bethlem Myopathy it sounds like causes muscle weakness over time. So, I'm trying to wrap my head around what to expect.
Maybe those are bad questions to ask, and if so, maybe someone with mEDS can tell me how to best go about getting more specifics. Thanks!
i have both TNXB gene mutations (clEDS type 1) and a NOTCH1 gene mutation (VUS). i knew before that the TNXB gene mutations plays and role in muscles but i also recently found out that NOTCH1 gene also plays into your muscles. im looking for more sources that talk about TNXB and NOTCH1 (together and individual) in relation to how it effects the muscles. thank you in advance
hi folks, i continue to have confusing and overwhelming health issues - see this post for background if you’d like. most recently, i have developed what seems to be a spontaneous cranial CSF leak, increased neuro symptoms, fatty and/or fibrotic liver, and idk what else honestly.
point is - i have been approved for whole exome sequencing through GeneDx which i’ll be doing soon. i am curious if anyone here has done the invitae panel for CTDs and then did GeneDx or other WES, and did it reveal anything new? i’m just a bit concerned because it’s not the most reliable test for TNXB specifically, and my symptoms are sooooo in line with clEDS. so ideally i’d be going through prevention genetics but 🤷
does anyone here happen to know if there’s any chance they’d find TNXB mutations, if i have them? or any other EDS related mutations that invitae doesn’t cover?
We're trying to figure out what type of EDS I have. Although I meet the criteria for hEDS I also meet the diagnostic for clEDS and show signs of a couple other CTD. The problem I'm intersex and it's currently suspected I have chimerism or mosaicism (I show enough signs of both that there's a theory I could have both mosaicism and chimerism) it means that my genetic tests are all over and we're unsure of what to do or test for, or even how to test for genetic disorders (I'm trying to get to a specialist but it's incredibly hard in my area because of how genetic departments are split up here). Is anyone with here with a rare type dx with either mosaicism or chimerism? Or even a mosaic form of EDS? If so how did you get dx and how did testing go?