r/rareEhlersDanlos

I have one of the most crazy rare things that anyone could possibly imagine and nobody gets it. Doctors even have an extremely hard time with it when they know what's going on, they literally understand nothing.

To back up, when my old PCP ordered the genetic testing without clinical data and it came out negative I was like there is no way this many people in my family are dealing with the same thing and there is nothing wrong. The only thing is everyone in my family had pieces of my puzzle which was quite confusing, but I wasn't willing to let that even stop me. At that point in time I had decided there was no way I was going to let what happened to me throughout my while entire life (47 yo) happen to my children, since I've started seeing in them what's happened in me. So I asked for my raw data, did my analysis myself, prior to my children's geneticist appointment, and then shared my findings.

I have an extremely rare germline somatic mosaicism that was brought on by a shattering event in one of my four cells at the second cell division during fibrillar collagen and ECM production. Embryonic fibrillar collagen and ECM production pulls 21 chromosomes into the transcription hub and those 21 genes, as they shattered were fixed with NHEJ fixes, which is super crazy because most of the time when this occurs the cell dies, but for me it didn't.

My children's genetic team has leaned in and that's reassuring since my PCP recently informed me that both medical systems in my area are not currently taking cases for adult EDS, but my children's geneticist said that based on what I found if they find what I found and they told the lab is suspected in my children their cascade testing will include the rest of my children (I have four altogether and only two saw the geneticist) and myself, given they use a different lab than my original genetic testing, I think we're getting somewhere.

But with somatic mosaicism and the amount of vascular events in my life my main doctors are so confused, because everything leans towards micro dissections and not the normal vEDS dissections, but unfortunately micro dissections still cause weakness in the arteries so eventually they could give out and seeing as my mother died at 54 of a vascular event nine years after a major vascular event (subarachnoid hemorrhage) there is no telling what will happen with me, so my main intent right now is just to make sure my children's medical records reflect what they need to so they aren't treated as badly as I was.

But the loneliness in this is so freaking real, nobody understands, not those closest to me, except my children who are now beginning to fight the same battles I have, and I don't know how else to help them but continually tell them we're getting somewhere and it takes so long and in the meantime my 21yo daughter is suffering from hip subluxations so bad that she gets stuck in the same positions for up to three days at a time at times. 😢 Honestly, what else can I do but keep fighting at this point in time. I realize I might not live to see the results but if I can make life easier for them then that's worth it.

All fibrillar collagen and ECM genes are effected including type 1, 3, 5, 4, 11 and possible more as well as the master regulators and the main culprit is a 3'UTR variant on ZNF469, one of the master regulator genes, no we don't have BCS, but we do have many vision issues... However looking into the regulation of the fibrillar collagen network I found out this gene itself if the protein production is interrupted can cause complete wipe out of fibrillar collagen genes and honestly if I hadn't have survived what I did that would have been exactly what happened....I have no idea what caused me to survive it, but I built a whole entire pipeline to analyze raw data for others so that moving forward I can make a difference and fill in an area that is essentially completely missing from the genetic testing. I'll be launching that really soon but right now I'm working on the automation of the initial part of it because I get sick too often and can't always keep up. (Especially with estrogen production being almost stopped, the fibrillar collagen network takes an even harder hit).

This was the best way to explain what I'm going through, but the loneliness is so real because even with the rare part of it I haven't found anyone that has every part like I do, but I can relate to every fibrillar collagen issue, which seems so unbelievable, but it's honestly for real... Whether you believe it or not, I get it, I didn't believe it either at first, I honestly thought it had to be something else, I felt like there was no way this was even possible... So I do get it if you don't believe me, but it does hurt to be here.

I was at my sister's wedding and ran into my cousins and found out that BOTH of my aunt's kids' kids (my cousin's kids) were diagnosed with cEDS. My brother recently had fraternal twins (he does not have EDS) and at the time.. i was the only person in my family with EDS that we knew about.... the twins are now less than 2 months old. EDS was a huge fear of my brother's to pass onto his children, but given the information I had at that time, i assumed his odds of passing it onto his kids were low.. i now realize that they are more likely to end up with it than most people... i'm honestly devastated.. i was really hoping that this ended with my aunt and me.

Edit: clarification

Hey! I’m getting a wisdom tooth removed (just one rn because I’m poor and the rest aren’t causing me problems) and I was wondering what the recovery process looked like for you guys.

I’ve seen a lot of ppl with hEDS talk about it, but I wanted to check to see if people with clEDS/other forms of EDS have differing experiences. I heal pretty slowly/weirdly with most things so I’m worried that the healing process is gonna be hard.

Thank you!

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! 🫶

Hi I was previously diagnosed with EDS and my doctor decided to do genetic testing to rule out certain types and I seem to have OI/EDS overlap?

My geneticist got back to me about having markers for COL1A2 OI/EDS and simultaneously TNXB related to clEDS.

It was VUS but I have definite symptoms relating to both.

Definite bone issues and stunted growth with short stature and short legs (luckily somehow i'm a decent normal height although short), along with dental issues and unexplained holes under my teeth (that i'm getting looked into soon) and also most of the symptoms of eds, full body hyper mobility with daily subluxations and frequent dislocations, POTS MCAS, GI issues and stomach bleeding if I take Ibuprofen, completely unaffected by other otc painkillers, cervicocranial instability with chiari, Weird bone nerve pain(I haven't looked into it), Asthma, scoliosis, osteoarthritis, tendon tears/breaking, fractures, spinal cord suppression with tremors and essential tremors, fibromyalgia, soft skin, scars like in eds, hyperextensible skin, gastroparesis, worsening eyesight...

I have family history with definite similar symptoms as me.

I am probably missing certain things lol but yeah

Does anyone have experience with this? My doctor suggested family testing.

So hi, I'm new to this subreddit.. lol There is not much research on this.