A Candidate Gene for Hypermobile EDS Has Been Found!
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- Опубліковано 10 вер 2024
- A candidate gene mutation for hypermobile Ehlers-Danlos Syndrome has been discovered at the Norris Lab at MUSC. In this video, I talk with a PhD student Cortney who works at the lab and also has hEDS. Please consider donating to the Norris Lab or passing this info along in order to support the research for genetic causes and possible treatments and tests for hEDS.
DONATE TO MUSC NORRIS LAB (EDS research in regenerative medicine): connect2.musc....
If you want to learn more about how you can be involved in research, email edsregistry@musc.edu
Cortney’s Paper: anatomypubs.on...
Cortney's Instagram: / cortdoesscience
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The views expressed in this video are my own and do not reflect the views of Mount Sinai Hospital.
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WHAT’S EHLERS-DANLOS SYNDROME?
The Ehlers-Danlos Syndromes (EDS) are a group of more than 13 genetic connective tissue disorders that affect the joints and ligaments, blood vessels, gastrointestinal tract, and autonomic nervous system, among others. The most common type of EDS is hypermobile EDS (hEDS), which used to be known at type III. Some of the most common symptoms and co-morbidities of hEDS include chronic joint pain, joint instability and dislocations, dysautonomia, and GI tract dysmotility.
MORE INFO ABOUT EDS:
🧬 www.ehlers-dan...
🧬 bit.ly/2N95xTE
MORE INFO ABOUT POTS:
💓 www.potsuk.org...
❤️ cle.clinic/2p1...
MORE INFO ABOUT GASTROPARESIS:
💚 mayocl.in/2BRQTuR
MORE INFO ABOUT MUSCLE TENSION DYSPHONIA:
🤍 bit.ly/2MLUYXI
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#eds #hypermobileeds #ehlersdanlossyndrome
If you want to learn more about how you can be involved in research, email edsregistry@musc.edu
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.
I seriously feel like I could cry. At 25 years old, this year I was diagnosed with hEDS. This would have never been possible if I hadn't stumbled across your videos and saw myself in you. All these years of being ignored at worst, and misdiagnosed at best....it feels like such a sweet sense of hope with this news.
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.
As the various genes that cause clinical hEDS are identified, hEDS will likely splinter into separate new types of EDS that can be identified by their specific gene. hEDS will still be the diagnosis that people will get via clinical diagnosis, until the specific gene mutation they have is identified.
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 almost cried. Knowing that there's research going on is so incredible. It makes me realize I felt hopeless, absolutely abandoned , and nobody cares about hEDS. Here in Belgium, there are too many doctors, physiotherapists (!) , nurses,.. who don't have a clue of what that is, some of them didn't learn about it when they left school, even nowadays. I'm so excited! I am 53 and was diagnosed at 46. It's first step for early diagnosis, and it open doors to find a cure or something that helps to live better, with less braces, less medication and physiotherapy (4 times a week for ever is boring), less exhaution etc.. And maybe one day I could throw my wheelchair away. 😃. Thank you so much. I'm also been diagnosed with asperger syndrom, it looks like a certain amount of people have the double diagnostic. I hope research will try to find the link.
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.
Both my parents had/have hEDS! My children also have it. I am dislocating constantly and watch my children dislocate is the worst thing ever!!! I’m so glad you are finding answers! Thank you
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.
Even EDS specialists were removing diagnosis of hEDS... happened to me, was diagnosed hEDS/collagen disorder in 2016 by rheumatologist and when I could finally afford a consultation with EDS specialist they reported back that I did not fit the criteria for hEDS (1 criteria short, family members highly symptomatic but not diagnosed) and that my diagnosis had to be revised to HSD. Which unfortunately that means people think it’s benign and ignore the need for addition medical testing, support and more pain relief.
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
This is amazing! You’re so correct about the importance of being diagnosed (appropriately) at an early age. I was diagnosed last September, at the age of 41. Had I known I had hEDS early on in life, I would’ve done so many things differently in all areas of my life. Sent my email! Thanks again for all you do Izzy!!
Your journey is unfortunately typical. I was misdiagnosed at 23 with rheumatoid arthritis by a GP. Correct diagnosis at 34.
Just found your channel! No one talks about end of life care for us! I’m excited to see where this goes if I live long enough. Also, yes, I know I have to have a rare form of either movement disorder, or degenerative neuromuscular disorder that hasn’t been diagnosed. UNC chapel hill hospital can’t help, so I’m going to try Duke. If you have any suggestions, please let me know. Obviously, I live in NC. No doctors have been helpful so far with the exception of Dr Tamison Jewett. However, she no longer sees adult patients. Desperately seeking a good doctor! Thank you ladies for all you do!!! Keep fighting for us! We need to push this to the media to increase pressure, because we are literally ignored by every single doctor! I am 45, and know that I don’t have much more time. It takes me 4 hours just to get a shower, and I have a hard time breathing. I’m dying and no one cares to help me. We shouldn’t be ignored, while most cancer patients have it easier than we do.
I wished I had been diagnosed early in life as I had so much damage to my joints from excessive exercise, and excessive hiking. 😢
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
I love the Norris Lab! Their recent q&a live video they did was awesome. Its great to see a lab who has several actual EDS interns and students working in it!
Do you have a link for the video?
One thing I want to just like add on (because I like combing the internet world for research studies to read on various topics, including EDS genetics) is that there are a few different theoretically candidate genes in the literature that have been sort of published quietly and not really followed up on. Most of these are small observational studies of a mutation found in a couple of people or in a family and they lack the sort of large-scale, dedicated lab and team that this gene has. Perhaps some of those will be the next targets for the team and the emerging professionals who were interns in this study!
My doctor refused to get me genetic testing even though my grandmother died at 48 from a ruptured artery. She was a smoker so they completely dismiss the possibility. I really hope this pans out so those of us that have been told we’re “just” hyper mobile can find doctors to listen to us.
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.
This is really exciting ! I have HSD and don’t quite meet the criteria for hEDS, and I’m really interested whether there will be patients who have HSD and don’t meet the diagnosis criteria for hEDS but still have the gene.
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❤❤
Will be interesting to see what percentage of patients with hEDS who have this gene mutation also have autoimmune conditions or have family members with autoimmune conditions.
Thank you, Izzy and Cortney, for this interview and for both of your hard work!
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.
Wonderful news! I am super excitied. For the record, the 2017 change, made me loose my diagnosis (I hadn't been officaly diagnosed was just going through the process at the time) but the difference is one point for me. I am classifed having HSD (hypermobile spectrum disorder) rather than hEDS. Which is fine, but it looses the conisderations for all my other organ involvement, bowel, bladder, etc. Anyway, keep up the brilliant work!
Hopefully this gene can follow a similar path that SOD1 in ALS patients has, where only a certain subset of families and patients have this mutation, but it is by far not a majority of patients who have it and lack of this gene doesn't disqualify you from diagnosis. I'm looking forward to reading the research article when it comes out! Good luck to Cortney in the rest of her PhD and to the Norris Lab!
Disabled RN here…I have dreamed of doing research-I am one of many that saw 3000 doctors and suffered for decades. My comorbidities include but are not limited to: debutrens contracture, POTS and other dysautonomias, early onset widespread osteoarthritis, SIDS, flat feet, chronic infections (sinus, respiratory, bladder), very thin and fragile, soft, translucent skin (now sadly with many scars), endometriosis, heavy painful periods, chronic dry eyes, mouth and nasal passages, widespread soft tissue injuries and pain, chronic costipation and many other symptoms and diagnoses. I am no longer hyper mobile-stiffened in my late 40s due to chronic soft tissue injuries and osteoarthritis. I have had so many bizarre (at the time) issues including an ectopic pregnancy post tubaligation (the surgeon, that retired soon after my surgery, stated that he had never seen anyone with their “insides stuck together like (mine) were before” 😳 I had a wisdom tooth pulled in my early 20s…when I was waking up, the dentist was speaking to his assistant “40 years of dentistry and I have never seen that before!”… Me waking up at hearing this “Never seen what before?”-mumbled with cotton in my mouth. He shows me my teeth…2 of them because they were so soft that they melded together-not at the roots…but above the gum line…The optometrist asking me 47 times which autoimmune disease that I have while looking at my anterior uveitis-to which I replied that I have every type running in my family-but nothing shows up in my blood work. I have sibling (older) that also have it, but don’t listen to me. Many doctors have said that my families genealogy should be studied when I tell them my and my family’s health history.
Yes, yes, YES!!!!
I was diagnosed 4 days ago, I’m 47 …. Live in Australia…I would have loved to have been a part of the study… Hope all goes well, and look forward to learning more about hEDS 🙏🏽😊
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..
Izzy, thanks for all you do to raise awareness! It’s so important! You rock! Was so great to see you! Will have Cort send vids and additional updates later.
I'm so excited to release more content in the coming weeks and months! Thanks again for having me :)
I ticked all the boxes for Heds with automatic distinction, my 23 yr old son has Heds. My mother and grandmother who were never diagnosed had the same issues that lead to mine and my son's diagnosis. Neither of them made it to their 63rd birthdays.
My mother has it and is 96.
I was originally diagnosed with HEDS, with signs pointing to more serious types, but I couldn't afford the testing. 2017 they changed my diagnosis to severe HSD. I hope that with finding more about HEDS, we can learn more about HSD as well and if they may have a similar gene mutation.
I am SO happy that I am seeing this in my lifetime. I’m hoping that one day people with this awful disease will perhaps better diagnosed and served. Thank you Izzy🦓❤️
So my son has a rare chromosome abnormality 17q12 dup and so we did the whole genome sequencing finding out that we have FBN1 gene VUS. My daughter has same symptoms but genetics hasn't been done on her our genetics dr diagnoses her with hEDS based on my history and her symptoms. Our genetic abnormality is with fibrillin not collagen but they still diagnosed hEDS. We were told this fbn1 sequencing has never been seen before, we all fall more into the hEDS category then Marfans.
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
I am a participant in a study that came via the NY EDS location. My sample was compromised, but I did agree to do it again.
I have been struggling with hEDS like symptoms for a long time but haven’t been diagnosed yet! Hoping they can tell me what’s wrong soon! Good luck ❤️
I am participating in this study! So exciting to finally be this close to a real answer.
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.
Has anyone studied why the symptoms and comorbidities between EDS and Vector Borne Illnesses like Lyme disease and Bartonella are so similar? I have been trying to find answers to my daughters pain and other complications for 4 years. Top contenders, Lyme or other vector, EDS, MCAS, POTS, PANS, Mold issues. Her hands are not bendy, but her shoulders, ankles and knees keep dislocating or subluxing, more and more. She has pain all over and I cannot find her any relief. She had a very fast exam (in my opinion), from a rheumatologist the quickly dismissed EDS,,but didn't even have her take off her long sleeved shirt to look at her elbows. We have an appointment with a geneticist in October but only over the phone,, we have to wait for January for the in person one. I am hoping that they will be more of a big picture person.
How exciting! Currently going thru genetic testing w two of my kids. Tentative dx for all 3 of us is heds. Ty for all u do. I'm 42 years old and just now learning what's "wrong" with me.
This is huge and validating.
Izzy this just might be the new place where many people and families come to seek information on EDS from all over the world.
Almost 10K views in 3 days and pushing 100K Subs, if they are all EDSers or families and friends of them, its good to see everyone in one place again in a positive atmosphere and in time your channel will become a mainstay for all in the medical field who want a crash course on EDS to understand more about their patient and how to make life easier.
Many keep seeking the cure all and forget this is untreatable with conventional medicines as they still do not fully understand EDS or have even heard of it, which is shocking now its 2021, so the smart ones jump in the field and learn directly from the people with EDS and try to manage their patients better, and to You Doctors and medical professionals, I Thank You for this extra time and devotion.
Much Love and God Bless
I have been diagnosed with HEDS, genetic testing found I have VUS mutations in PLOD1, COL27A1, and LPIN2.
I went to my Neurologist appointment and I unfortunately am like many other people who have EDS and having to advocate for myself, all my Neurologist said is that I would need to go to a Orthopedic clinic. Which I plan on doing because I just walk downstairs and my hip goes in and out of socket and I told her about my shoulder dislocated at my work. Ugh! What’s the become of doctors listening to you? I don’t think the Nurse practitioner knows what it is, unfortunately! I do have Sleep Apnea, isn’t that a Comorbidity of EDS? I have Classical type two.
This leaves me back in limbo. 🤦🏽♀ I may never get a correct diagnosis. So frustrating. I have 3 mutations. 2 for eds 1 for Marfan's so I definitely have collagen mutations.
My knees twist left and right, everything dislocates, ribs are dislocating from spine and cracking around sternum, dislocated spine from hips and cranium and it is the opposite of phukin awesome.
Thank you doctor for doing this , and izzy for always keeping us updated . I look forward to the population. Also if you ever allowed international volunteers for your studies , I ‘ll be the first to volunteer
Yay! My hEDS body is encouraged at this news! Thank you!!!💕
Ooo I have a follow up with my Genetics team in October and am excited now. Lol I have gotten a Sjogrens diagnosis since my initial hEDS diagnosis, so now my diagnosis is in limbo. This sounds like it could help.
Thank y’all for doing the research and sharing with us. 💞
The fact that they are also looking into MCAS has me very curious and surprised! I sure seem to have that plus lots of gut issues and my whole body is hypermobile. But my gut and these airborne reactions are my biggest problem. Down to eating only a few foods. Because I seem to react to so much. And my PCP is worried about my weight. Eating as much as I can but getting underweight. And she doesn't understand how my hypermobility fits into the whole thing. 😞 She thinks sending me to some intergrative doctor who is supposed to fix food sensitivities with herbs is the answer?? But its the immune system that creates the IgG against foods. You cant change that by taking a herb! If you can then who do so many people die from peanut allergies, etc? I think its Mast Cell which I am sure my doctor never even heard of.
I signed up for me, my kids, and my husband and also asked my mom to sign up. I'm super interested to see how this relates to those of us with HATS (hereditary alpha-Tryptasemia) and if it is related at all to that gene or in that area at all.
👍👍👍👍👍This is fantastic. Thank you for following your personal passions to help others suffering from HEDS. Keep up the good work!🙏🏻
If I haven't commented on this already, I think it's intriguing to see that people do research into an ailment(?) that they themselves have.
Also, I can't believe how it's important that people have a certain diagnosis, or...might "understand" be a better word here...?
All research Q&As should include adorable dogs from now on 💜
I just sent back my survey response while watching this! (Don't worry, I'm prepared to wait patiently, as long as needed) So excited about this news, congratulations on this and all your hard work! 👏💜👍
Can't wait to read the papers, and to see what else you do!
I’m on the list of potential candidates! It’s probably too late for me to see many benefits from this discovery but it’s great news for my children. I can’t wait to read the research.
Awesome ... Sending to my pain management Doctor Who loves learning more
My sister had it with severe dysautonomia. I have eds with dysautonomia and son has eds and dysautonomia. It a very hard disease to manage. We had a genetic test and ours is hypermobile with TNXB gene.
I have 2 VUS for the DCHS1 gene. Really lost on figuring that out. I have symtoms of multiple types of EDS.
I would love to work with you guys. Got a Biology degree and working in the research for this would be life changing!!
I have hEDS and this is all so fascinating and encouraging!! I’m going to register tonight!
Thank you soooo much for the link to the article- it is FANTASTIC! Excellent overview, taking to our next doctor’s appointment! Thank you Thank you Thank you!!
Oh wow!!! how many this will help!! Esp those of us with a HSD diagnosis are only 1 point off a hEDS.
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.
This is really exciting I’m coming too soon!! Thanku Izzy for doing all that you do for this community🤗to both of u!
I watched this days ago and just now thought of a question lol! If hEDS candidate genes are not collagen related mutations, then do we have any collagen issues? If not, why do we look so young along with other types of EDS people? I notice that I don't have the doughy skin like some do but I look 20 years younger than I am.
I think the extra cellular matrix holds the answer ;)
i have been diagnosed, I am also an undergrad student looking to go into either nursing or research or DNP and have wanted to study this further. I have also passed this to five of my kids.
Bless you! You are doing such important work.
I haven’t officially been diagnosed because of cost. I can’t afford to go to all these doctors. My chiropractor agrees with me that she thinks I do have it. I only found out about EDS a couple of years ago. It explains so much in my life. I would have probably had a csection instead of natural birth. I tore horribly and took forever to heal from and still not quite right. I’m almost positive my daughter has it too same hyper mobility knee cap sometimes pops out. So no sports for her.
Very intrested to find out what the gene is. I have hEDS and a NOTCH1 gene mutation and my genetic team is currently working on finding a connection between the 2 also in South Carolina!
Amazing collab and thank you for sharing ! I hope that the gene study will grow more but the problem imo is that treatments will be available as in general that a lot of EDS patients are not getting hydrotherapy and appropriate physiotherapy as these are so so important and not available for many..
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
Hum I'm crying, this is huge, wow
SO there was no gene in 2019 known for hEDS? I am in a legal case where the doctor was biased against believing my properly made by a world leading EDS geneticist diagnosis was false because the genetic test was "negative". It should be noted the geneticist deemed it unnecessary to get a genetic test done.
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 have hEDS and this news is very exciting. Maybe if we determine a gene we can be more easily diagnosed and believed!
One thing I notice in all eds people is the pallor. You can see it written in the faces
Thank god the young are leading this...thank you and keep up the good work
That's my hospital!! MUSC is amazingggg!
I am so excited about this research and I can hardly wait to read the paper!!! 🥰
Thank you and your lab, you will surely give thousands of people peace of mind
I’m very interested in all of this. I have HEDS. And went through University of Washington to rule out the other forms due to my vascular issues and my mother having her first brain aneurysm rupture at 42.
I have Chiari, Mast Cell Activation, Gastroparesis, Autonomic Dysfunction, Pots, and Early Onset Alzheimer’s. I’m 45 and all 4 of my children are hypermobibile. My mother appeared to have vascular EDS, but died before any confirmation. Had all classical features and health issues.
Oh wow all of that together points toward the Pentad/Jag-A Syndrome.
What happened to the research? When will the gene will be published?
I went to the geneticist today they said EDS is a possibility but I have a few other weird things going on so they decided that before we focus just on EDS they are going to do a full geneticist test so if I do have any type of EDS that can be found through a gene I will know in about 5 months! Which is a long time but I’m excited!!!
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!
I am having trouble getting diagnosed and getting funds for anything, dislocated spine from hips and crushed nerves 2 years ago, since then it's been a gruesome struggle, I am in need of everything, and want the death with dignity pill....
Thanks for the work girls...superstars
So interesting. Me and several of my siblings, nieces & nephews have heds but the weird thing is- I also had a brother who passed suddenly at 31. He was never diagnosed but his features and lifelong issues were very suggestive of marfan syndrome. The way i understand it, there would have to be genetic issues coming from both parents if a family had both eds and marfan ? Its so confusing. Would love to have answers someday. 🥰
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 💗
This is so exciting. Good on you for doing this research!!!
Hi Izzy and Cortney thank you so much for your hard work, your excited smiles are infectious and I finally feel like I'm getting somewhere in regards to what is wrong with my body, largely thanks to your videos ❤
I'm a new subscriber, thank you so much for this channel. I have been dx with dysautonomia and go to a rheumatologist august 7 for suspected hEDS.
Actually suspected Jag-A Syndrome/Pentad, do you have any other videos on that?
Are they also checking the genes in people who suffer from other painful and chronic hypermobile joint syndrome but have not gotten an hEDS diagnosis to see if there is any correlation between hEDS and others who suffer from painful hypermobile joints?
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!
I'm so excited for this. I just hope it means easier access to care in the future. UK still don't recognise it as an illness between doctors and specialists. I've been told it can be caused by not moving & bad diet too. 🙄 I really hope gene testing becomes readily available in the future dor early diagnosis. I definitely agree with the earlier you catch it the earlier you can adjust & keep on top of it. My muscles are incorrectly developed due to noone catching my instability. Its exciting!
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.
Please look into the biology of lactoferrin. This is my theory.
Do you need help/information from people outside the USA, I have hEDS, as does my mum and sister, my daughter is also currently being tested at seven years old.
awesome video! What is being done to combat researcher bias when it comes to researching these genes having researchers having the disease themselves?
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!
Just got the results of some genetic testing and have a variant of unknown significance relating to my FBN2 gene. I am hypermobile and my Dr.s believe I also have EDS or hEDS as well.
My old rheumatologist diagnosed me with hEDS. My new one says that there's no way someone can be diagnosed in their 30's (I was diagnosed at 32), and that I'm not as hypermobile as I was led to believe (I was very very stiff the day I went in). Does this sound like bullshit to anyone else? Should I find a new dr?
I really hope you got a new DR
I got my EDS hypermobile type 3 many years ago. I couldn't be gene tested as it didn't exist at the time, but the other eds types. Is EDS Hypermobil type 3 the same as hEDS? four in my family have eds
Could you please post the link to the list of tests to show you have EDS please?
This is FANTASTIC!!
Does anyone in the comments know if any of the ancestry type (23&me type) genetic DNA tests will test for EDS and all of these things, since doctors and health insurance flat out refuse to test for these things, in my experience. It’s so exciting that we are now able to take our own health into our own hands these days tho!
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
YAY i get my spit kit for this in a few weeks!!! im so excited my crappy genes are being used for this research!!!!!
If we already have our genetics testing results would there be a possibility that the gene they found is on our results without having to rest? I had a marker which was unidentifiable and unknown so I’m curious if that could be this gene they just found?
Ahhhhhhhhhh! I've been waiting for it!
Does it have anything to do with the Gene Wdfwy3? My son has EDS (he’s 11), and he has a spelling error on this gene. They said it’s a variant of uncertain significance. Thank you!
Izzy, did they ever publish?
not yet, they are close though there was an update to EDS society website in June 2024.
This is so great!
I figure it's unlikely I'd be able to participate if I'm borderline hEDS/HSD? My hypermobility is definitely a problem, and I have a lot of random issues in my body but no other specific diagnoses associated with those things (no POTS, for instance). My rheumatologist has been using the names interchangably, and I'm not sure he's "officially" diagnosed me. My PT thinks I have it, if that makes a difference, heh. Still, I don't think either diagnosis is official.
Does anyone here live In Northeast Ohio and have good Doctor recommendations? thank you.
Has this been published yet? What's the gene called?
not yet, they are close though there was an update to EDS society website in June 2024.
In one point we know nothing about it, have no treatments and even next generation of EDS patients will be in the same as us.
No hope for this disease.
I was just reading about sulfur based SIBO and ran across something I thought was interesting. One doctor said that many people who can't process sulfur are low on the mineral called molybdenum. But if you get too much molybdenum it can make your joints & connective tissues very bendy & stretchy?? What the doctor described sounded similar to the joints of EDS maybe?? So I wonder if these gene mutation has something to do with sulfur processing?? Or with molybdenum? And sulfur is used in clearing away toxins I believe, so maybe toxin clearing pathways? I certainly have problems with almost all sulfur foods! And I sure react to chemicals & toxins (including plastic) so that suggests my toxin clearing pathway might not be working either.
Did you know about molybdenum?
I know sometimes these gene mutations can make things backwards. Like with autism... You need this one thing to sleep but with autism you have too much of it and that actually goofs up your sleep big time! So its backwards. Could molybdenum be backwards in hEDS so you have too much?? No idea. Just a thought I had.
Can't wait to find out more!
Interesting concept - I can't tolerate sulfa (different to sulphur, but sensitive somewhat to sulphur and salicylate) and am highly allergic to Sulfa meds in a way that has been explained with a gene for a novel inheritance of Hereditary Coproporphyria not on the CPOX gene but an organic anion and solute carrier, and am diagnosed hEDs, but interesting to find if EDS is related to Sulfonation in the liver or adrenal malfunction, as I know one other family with same hepatic Porphyria and EDS with PVH a common brain malformation with EDS, and both disorders seems to correlate phenotypically with MCAS/skin fragility symptoms due to mast cell involvement. Lots of our Porphyria group also have EDS. My first thought is SULT genes are an adrenal gene that may be implicated if your theory is correct, as they said in the study it was related to adrenal/hormonal, as are Porphyria attacks, dependant on estrogens, progestins and improved with androgen steroid or menopause. I also met someone with hepatic Porphyria and Pheochromocytoma. I have a loss mutation on a solute carrier studied mostly for statin issues that also causes a severe deficit in sulfate bile esters pump, and a lot of EDS patients struggle with issues with ester and amine based Anesthesia not working or dispersing through tissues well. A crossover of mast cell in sclerodermoid tissue of Porphyria and mast cell in connective tissue + build up of light activated Porphyrins in tis sue + C3/C4 complement loss, could also connect mast cell activation and lupus-like sun intolerance rashes in response to UV specifically - and gastroparesis may result from secondary bile acid deficiency/malabsorption and flimsy membrane structure, with MCAD and Gastroparesis more common in hEDS than other types I'm curious the group's they put the new hEDS genes in. Other gene I suspect in a combined phenotype of sulfur/EDS/Adrenal/collagen could be SDHB. It would explain prevalent iron issues perhaps, or a FGF gene or a gene related to fibrillar collagen.
As a person would cannot tolerate Sulfur (compounds and derivatives) and who has HSD, GI, Dermi and Adrenal issues, I feel I have learned so much from yours and @Shelby Jansen comments. Thank you both.
@@ShelbySynesthesia FANTASTIC INFORMATION !!
Has the paper been published yet?
not yet, they are close though there was an update to EDS society website in June 2024.
How exciting that we may finally have identified the gene for hEDS. Looking forward to hearing more. Would someone from Guam which is a US territory and as such coincided to be part of the US be qualified to participate in the study ?
I’ll ask and get back to you!
Can you explain more how you do candidate screening? Wondering if you're using viral vectors to deliver gene mutations to mice?! Very interested! I'm a scientist working in process development and pre-can screening of plasmids for gene therapies..... Would love to see an eds gene therapy come down the pipeline some day 💜
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!
Do we know if they will be doing cEDS research?
Oh just to put it out there because maybe it will be considered in a research. Im diagnosed a year ago with EDS. Dont know what kind yet , and with Leukopenia ( low WBC) and fibromyalgia . Recently i have been doing some research and i want to get checked out if I have lipodema. I also have very weak muscles and thin skin ( might not be noticeable because im a person of color) . Please let me know if i can help with any study . It breaks my heart knowing that we dont have enough info about eds . I went to many doctors before I got the proper diagnosis at 30.
t is a connective tissue disorder so It worries me that I Dont know what to do when I get older and weaker ! Will doctors be able to avoid the disorders complications? Avoid Complications if the patient needed a surgery?