I just did! I can't wait to help!

Thank you 🙏🏼

This is about as exciting as finally getting a diagnosis to begin with.

This is so cool! 😁 I'm new to all this. Took me 44 years to connect the dots. Waiting on genetics now.

I seriously wish I lived in US regarding this. Lol.

Imagine being my age and the diagnosis did not even exist until halfway through your life... then years and years for any doctors to know of it and still struggling for doctors to truly understand it. At 2 years old I already see it in my daughter but I know she will have much better quality of life between medical advances and a mother who understands. :)

I was diagnosed last year at age 60! Finally explains what I’ve been dealing with, and have had doctors ignore, dismiss or gaslight symptoms I described since I was a child. At least I now know it’s not ‘all in my head’ 🤬 It has not been an easy journey, and having an explanation makes a difference.

@@avrilhodge3446 I'm 64 and just got diagnosed. I'm no longer a hypochondriac !

@@theresatrimble7259 Yay, is such a good feeling to be validated, isn’t it? I still doubt myself sometimes though, as a hangover from all those years of being dismissed and gaslighting 😳 But onwards we go! 😁👍

Having my reality denied by drs. family and friends was devastating. That said I'm a survivor. I will make it through . It's getting scary tough.

Do you reckon there are multiple different genes? (not managed to watch the video yet btw, busy atm but very exciting news!)

yes, many, just like with most of the other types of EDS. :)

@@IzzyKDNA thanks! I’ve managed to watch the video now and it was very informative :)

@@IzzyKDNA do u know of people w hEDS who don't necessarily have major joint issues, but moreso that it affects their organs in terms of various prolapses, numerous abdominal hernias, and severe osteoporosis (but no bone breaks), etc? I was dx w hEDS, and while I have had many soft tissue injuries (albeit minor compared to others w hEDS) , my organs are the things that my connective tissue just won't keep in place, which has resulted in surgeries for hernias, a colectomy w ileostomy (plus complications bc of prolapses or reoccurances of hernias), etc. Most people I know with hEDS tend to have more joint issues and while I'm hypermobile, I don't hear much discussion about organ connective tissue issues. I'd love more insight into this if you have the time and gumption to do so! I love your channel and am so glad u are talking abt this stuff! 🤗

@@summersalix My first indication there was a problem was in my kidney, I had a severe grade VUR that presented at 20 years old, ended up losing the kidney at 24. It all went downhill from there.

I have Tourette’s and everyone I know who also has hEDS has it too so idk if that’s maybe linked aswell

@@TheBlasdelb I've been told that they diagnose people, I didn't know there is a center for following people. So I just read there website. It 's very interesting, but I can't have an idea of how long it takes to get an appointment because it needs a reader of identity card. I just found a clinic in Bruxelles, Dr Daens, but the first appointment is in 2023. Thank you for your information, I will call them on Monday. I hope they work with specialists near Liège because I'm not able to go there by train and tram or bus, or sit in a car more than 20 minutes. But I will find a way., 😊👍. Thank you.

Anyway, no therapy will be available during the next 30 years... We are fucked up.

​@@cuorenerazzurro1661 Symptomatic treatments for all our issues can help. Weirdly colchicine for my CPPD - pseudogout has helped enormously all round not just knee. Decreased pain and fatigue a lot. Eases inflammation. 1 tablet in am with pantaprazole to help stomach and inhibit histamine H2.

​@@cuorenerazzurro1661I disagree. We are currently fucked up. I look at this as a possibility for my daughters and grandchildren! I wish I could have been tested, but understanding myself has come with my clinical diagnosis at age 60. I'm now 64 and both my daughters and my two grandkids have it. I have several cousins who also have hEDS.

Everyone in my mother's family knows how to put joints back in. No one has ever sought a diagnosis for it before me. I just got a referral to a geneticist with a note stating I meet the clinical criteria for EDS. My doctor thinks classical or hypermobile. He wasn't comfortable assessing children so my kids will go see a pediatrician 1st. Wait times are unfortunately pretty long for pediatrician.

I'm so sorry to hear this. That's just wrong.

Same here

It literally has the same symptoms, so that’s so stupid on their part.

technically if that family member meets all the criteria then they don't need an actual diagnosis for them to count towards your diagnosis. obviously some doctors won't properly follow the diagnostic criteria though so if that happened to you you might want to try another doctor if possible (easier said then done though especially if your in a place without many or any specialists)

If you can get it CBD oil like Charlottes Web helped me. Trial it. Also one Lengout tablet in am for pseudogout has helped with pain and fatigue a lot, muscle toning, magnesium salts baths, hot water bottles, keep warm etc

Your journey is unfortunately typical. I was misdiagnosed at 23 with rheumatoid arthritis by a GP. Correct diagnosis at 34.

Do you have a link for the video?

Same

I grew up being a kinda stunt man, would fall on purpose downhill skiing, jump off buildings into snow and roofs, grew up champion martial artist, did all extreme training in cold winter and hot summer, oxygen deprivation exercises, did competition swimming but quit, loved cliff jumping into water, dirt biking, four wheeling and wiping out, got in a few car accidents with friends driving, fell out of trees....etc Its Gods Will I am still here today Oh yeah and they suspect I have a car form of EDS where you have all 8 major EDS type symptoms overlapping into one type, nobody could test for it in the world except Germany, so they sent my DNA there and first test said positive, 2nd test negative and now they won't say for third test as it costs over 10K. that was almost 10 years ago too, so I gave up chasing the diagnosis, there is no treatment and its just a label for me at this point, plus I live with around or over 20 diseases. I stopped seeking medical care about ten years ago too, stopped all medications, treatments and just be, I'm doing good with no meds or poking and prodding and scanning me, plus doctors take one look a me and think I'm there for drugs and have even came right out and said it to my face before opening my file to see I'm drug free for over a decade. I beg You all to try and take the pain as much as possible before taking pain medications, your bodies will condition to it and build a pain tolerance so to speak and be able to cope and deal with the pain a little better. I use Kratom Leaf Powder for pain for a decade now and help others with EDS get off the pain meds, also Moringa Leaf Powder fuels our bodies with so much vitamins and nutrients that our muscles and tendons will thank you in no time at all. I made a video for friends awhile ago about Kratom and moringa and the other herbs I use, but now I'm broke I can't afford much herbs and natural remedies, raw local honey and Ceylon cinnamon was a life saver for my tendentious and arthritis and osteoarthritis, it took 3 months of taking it each morning to see results but I got half the time on my feet back while on it, but now back to dealing with the pain daily an trying to not take any Kratom and see how long I can go with the pain, before my heart starts to get a bit out of whack from the pain, that's when you know its time to get out of pain of your heart starts beating weird, pumps way to fast or slow, or starts to give shooting pains like heart attack symptoms. Much Love and God Bless You All With Healing Health

Ditto.

THIS my doc said I have no heds now testing for other eds genes and marfan. He also said they test my blood for heds if they find gene(s).

Lizzyjones8418❤❤

My mother has it and is 96.

I seen several geneticists till I got in to Toronto and saw Dr Shantal Moral, she diagnosis people from all over the world and about 10 years ago she was diagnosing around 2-3 patients a day. Seems more from marinas than Eds to me too, so maybe get another geneticist appointment and if you can out of town so they use different lab and testing equipment. Much Love and God Bless

To anyone else who has yet to go through this: if someone in your family seems like they could have EDS except for one teeny fact _just lie_ . Don't tell them that. You deserve to have the genetic test. Omit any information that would cause them to wrongfully refuse to give it to you. My grandfather dropped dead of a heart attack at 35. I told the geneticist that so he would check for vEDS. What I didn't tell him was that my grandfather dropped dead at 35 because of a childhood fever that weakened his heart. The medical industry has no heart, no soul, and no conscience. It harms no one to make sure you are allowed to take the damn test that could save your life.

@@detectivewiggles Thank you. I have just found out that 2 family members were diagnosed with this and my sister is currently going through the testing process. I pass the criteria checklist, but I'm obese, so I'm afraid they are gonna blame it all on that, tell me to "Lose weight, then we'll see what issues are left" But I can't exercise due to my joint pain and constant subluxations in my hips and my arms. I can eat less, but I already skip meals and I go hungry alot trying to get the weight off.

​@@colleenmcbride3656 I found a vibrating platform I got for lipidema helped POTS and weight control. Had to eat semi vegetarian too.

I'm so excited to release more content in the coming weeks and months! Thanks again for having me :)

I have been thinking the same exact thing...

I have a hunch it will be a lot, as I've observed in my work as a support group leader and shared here. I don't think EDS is autoimmune itself. But it's highly comorbid with PID and CVID and MCAD which can all lend to secondary autoimmune conditions. Hashimoto's was one of the first common comorbidities I listed on my blog in fact. ohtwist.com/the-chronic-constellation

Add another hEDS also with auto immune conditions. I have Hashimoto’s (which seems many also have), along with Vitiligo and Raynaud’s. There seems to be a lot of those of us with hEDS, that have auto immune issues, dysautonomia and Autism and ADHD.

Same. I’m in Australia too, so can’t participate. Will be following closely though!

Hey just wondering where you can obtain a diagnosis in Australia and what's involved please?

@@sloene72 Hiya - I got a referral from my doctor to a Rheumatologist and she did a clinical diagnosis’ by checking physical things and asking about my history- you can also get a blood test - but it can take time and money. My Rheumatologist was certain I had it - I’d never heard of it before I went to her, but was always in pain etc.. now I know why..

Me too!!! I'm so excited that they found this gene and I cant wait for them to find other gene mutations that will be the causative gene for even more of us!

The real answer is magnesium deficiency. Solve magnesium deficiency, your hEDS will literally get better and better until it eventually disappear (takes a few years, full disclosure)

@@detectivewiggles WOW. Did you really just.... smh

@@detectivewiggles so you are saying defects in the genes will cured by taking magnesium 🤣🤣🤣 So basically magnesium is a gene therapy 🤣🤣🤣🤣

@@detectivewiggles magnesium is literally a part of all transctions in our body. Highly needed yes, causative, no. I'd love to see some data supporting it thats not of anedotal nature.

I think the extra cellular matrix holds the answer ;)

Or how many will the insurance co kick off ?

@@decemberkat not something I think of here in Australia. Guess that would be a big worry in the usa.😞

@@decemberkatI think rather than exclude people without lab diagnosis, heds should remain clinical diagnosis with a new category for this discovery. Nothing has changed yet for anyone suffering and there are still no fda approved treatments for eds, so they need to keep honoring this group and looking for answers.

@@rosehill9537 I do meet the criteria for hEDS, but now specialists are hesitant to use that diagnosis. It’s because EDS is recognised by NDIS now. Unfortunately if you apply with that diagnosis, they will question it. And Specialists don’t want to be in the position where they arbitrate or have to justify their diagnosis of hEDS vs HSD 🤬 And really, they shouldn’t have to justify it to bureaucrats who really don’t know the difference. As my specialist says, the management and treatment is the same for both anyway! So frustrating! I’m going to need the NDIS and I’m too scared to apply and be put through the wringer. I simply don’t have the energy!

@@avrilhodge3446 I'm trying to get ndis with hsd diagnosis(just a few points off hEDS). It's a long process and they keep changing the application(a letter from.specialist is now must b on their paperwork) took so long to get diagnosis(over 10 years) i now have co morbidities. We cant afford my health care with out ndis help. And dont get me started on centrelink. Its exhausting I know. The system wasn't ment to b like this sigh.

In southern east Qld hospital rheumatology clinics won't see EDS patients. Even put it on their web pages. So have to pay private rheumatologists a few days wages for a consultation. If you can't work you're fu....d

Oh wow all of that together points toward the Pentad/Jag-A Syndrome.

I’ll ask and get back to you!

I lived with an EDS diagnosis for over 12 years before I found out I actually have a different connective tissue disorder

@@ReineDeLaSeine14 Oh wow! I’m really glad my geneticist realized that many things seemed off and decided to do testing for everything. Glad that you have the right diagnosis now!

@@ReineDeLaSeine14 oh wow! What was the other connective tissue disorder u discovered u have instead? That had to be quite a shock after 12 years!

That must have been quite a mind shift change when you found out it was a different connective tissue disorder than what you were diagnosed with for a while. I’m glad you have the correct diagnosis now!

Hey! I have a friend with Marfans and she has zero family and is a sole mutation. Random mutations are always a possibility albeit rare in all the disorders out there. I have hEDS 💗

most types of EDS have genetic marker already found- but hypermobile doesnt YET. they are close though there was an update to EDS society website in June 2024.

@@Dogwithoutaname False. Many DIFFERENT types of EDS have been found with genetic markers. Several types would have previously been diagnosed as hEDS before discovery. hEDS is a theoretic type that also encompasses yet unknown types. As of 2024 we are hoping to be able to pin down the genetics that cause the most typified hEDS symptoms, but that doesn't mean we are close to knowing all types and genetics.

i assume they’re probably only focusing on diagnosed hEDS patients right now specifically to figure out the gene as much as possible, but once it’s widely known and understood then it’ll be possible for those of us who are suspected to be hEDS but not diagnosed under current criteria/undiagnosed for other reasons to take the genetic test to see if we have that gene. the idea is likely that this gene would be its own type of eds instead of under the hEDS name which is theorized to possibly be multiple different types with similar enough presentation and no known gene that it’s almost a catch all for EDS? think how fibro is kinda a catch all “we don’t know but it’s Something and usually like this” illness right now. it’s also why it’s not uncommon for people to get diagnosed with hEDS then find out later they actually have another type

@@lightworthy I agree I went to a geneticist today and noticed they said there are 14 types of EDS instead of 13 so I’m wondering if they have already separated it!

The reason the doc probably said 14 is that there are more than 13 types of EDS but only 13 classified types (one example is PVNH which is a type of EDS but isn't one of the 13 classified types), but a few years ago, a paper came out talking about a 14th one found. but it wasn't added to the classification system, though ive still heard some people say 14 instead of 13, and i don't think it really matters. i usually just say more than 13 lol.

@@IzzyKDNA ohh I see I didn’t know that!

This will be explained in the published paper and in the videos I release once it’s published! 🥰

@@IzzyKDNA Hi, is there a date set for the release? I have an October appt with a geneticist for my daughter and I am just wondering if I will be able to show this to her or not? Thank you!

But your NHS are hosting the EDS Toolkit for General Practitioners (doctors) I helped co-author here... rcgp.org.uk/eds

@@JanGroh I don't know where because all I keep hearing from my dr's is to stop ringing them as there's no help for EDS.

@@MrsXx I'm really sorry to hear that. Because that's patently untrue. There IS help for EDS, even if there is no true "cure". There is supportive therapy and management that can help a lot. Are you in a support group locally? You might seek one out if not. There are lots of groups on Facebook, and I've now got one on MeWe (as an alternative to FB) if not. (Search for OhTWIST.) There's also The Ehlers-Danlos Society's Inspire forum. It's important to know you're not alone, plus local groups often have the low down on the best doctors etc. to see. I'm sorry it's so discouraging.

no 23andme, ancestry and anything else can't test for EDS at all. they look at certain areas of some of the genes but not areas that cause EDS at all

@@IzzyKDNA I got whole genome sequencing but whilst waiting or the results I tried looking at MyHeritage data with genome explorer and believe I’ve got col11a1, col12a1, Col6a1, col6a2, fbln5, Fbn1, eln, Smad3, col2a1, atp6voa2. I have yet to speak to a genetic counsellor though

Love this question and I wonder if Cortney should talk about this in a video after the paper is out. There are methods in place for blinding and randomization that will be published in the paper!

Can't wait for updates

@@IzzyKDNA Thanks so much for the reply Izzy! I'd love to hear more from both of you once the paper is out. I know many of us HEDS'ers are on seats edge waiting for this so it would be very hard not to get caught up in it doing the research its self. So hats off to them!

not yet, they are close though there was an update to EDS society website in June 2024.