What is CLASSICAL ehlers danlos syndrome (cEDS)?
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- Опубліковано 11 тра 2021
- Classical eds (cEDS) is a subtype of ehlers danlos that’s characterized by severe joint hypermobility, atrophic scarring, and very poor wound healing. Like other types of EDS, cEDS also causes chronic pain, dislocations, and other comorbidities. Thanks again to Kristin for sharing her journey with classical EDS.
Clinical cEDS criteria: ehlers-danlos.com/wp-content/...
www.ias.ac.in/article/fulltex...
www.nature.com/articles/gim20...
www.ncbi.nlm.nih.gov/books/NB...
rarediseases.info.nih.gov/dis...
rarediseases.info.nih.gov/dis....
www.nature.com/articles/ncomm...
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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-danlos.com/eds-types/
🧬 bit.ly/2N95xTE
MORE INFO ABOUT POTS:
💓 www.potsuk.org/what_is_pots2
❤️ cle.clinic/2p1lByR
MORE INFO ABOUT GASTROPARESIS:
💚 mayocl.in/2BRQTuR
MORE INFO ABOUT MUSCLE TENSION DYSPHONIA:
🤍 bit.ly/2MLUYXI
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#ceds #classicaleds #eds
in january of this year i was diagnosed with vascular eds. we may not have the same type of eds but your contant is amazing to watch for anyone with any type of eds. it’s very informative but i never get bored. 💕
I'm so glad you enjoy my videos!
I really appreciate that you are educating yourself and then us about EDS types that are not directly relevant to you. You are being a voice for these rarer types and that is such a valuable gift for people on the internet, whether they have EDS or not. I also cannot wait for the more sciency video!
I have classical EDS and just got diagnosed this week!!! Always thought I had hypermobile eds until I found out I have classical! Thank you for this video❤️❤️
I have classical EDS and found it super interesting that you said it's generally considered more serious. My personal experience with doctors has been that they consider it less problematic and I have to prove that my joints are still hypermobile.
Honestly, I think both misconceptions are out there! It really depends on the person in reality though. 🥰
@@IzzyKDNA According to my geneticist Dr.Peter Byers, cEDS has more organ involvement which is why it is considered more serious, but it definitely is individual to each person, as is any type of EDS really.
I was diagnosed with Classical EDS at the age of 61years and nine months
I was diagnosed w hEDS at 17….65 now still trying to get care and be reassessed for type since I pass most classical as well as vascular….A major Hospital adult clinic just dismissed me because I was sitting cross lotus in a chair w a Aspen collar on “ looking comfortable “ so….I’m now labeled as guess what .
Hey, Izzy! I have the COL1A1 mutation with classical EDS and osteogenesis imperfecta. I would love to connect with other cEDS folks, especially those with the COL1A1 mutation! Even when I was at the EDS conference in Baltimore, I didn’t meet anyone else with that specific mutation… Anyway, thank you for making videos and educating others about EDS and its comorbidities!
Yikes! My sister has Osteogenesis Imperfecta and I have classical EDS. Prayers going up for you! My family has Osteogenesis Imperfecta, one of my Aunts has it really bad. She has had LOTS of broken bones. The type of Classical EDS that I have is type two.
It's so interesting to hear the mutation names and such. I've never retained new information well, but every video of yours is making me giddy about learning, even if the info doesn't stick with me. Also, every video like this makes me yearn for my healthier days when I still could study, because even though my memory has never been good, I've always loved learning. These type of videos are one of my favorites from you! Your voice is also very soothing, and uplifting, can't wait for future videos! Lots of love from Finland
Thank you so much! And I'm so glad that these kinds of videos get you excited about learning, even if most of the info doesn't stick with you. I love learning from UA-cam videos...it's so fun and interesting. Sending hugs to Finland!!!
I have classical EDS I’m 41 ❤ I was diagnosed at birth and when the dr shook my dads hand he said that’s where he gets it from and that’s when my dad found out what he had he had never been told by his parents. X
Well done on a clear and well edited video. I am "hEDS" as don't have COL gene mutation BUT I have a VUS for Beals syndrome which is another even rarer connective tissue disorder but I don't have Beals. Therefore I am, in the words of the genetics team, in "a no mans land ". FBN2 is fibrillar part of the collagen matrix and related to Marfans also has very high risk of aortic dissection and severe vascular issues like fibro muscular dysplasia and veinous stenosis, Mitral valve prophase, pulmonary etc spinal issues and CCI etc including horrible co morbidities like Chiari. I am in a large group of FBN2 VUS patients waiting for new classifications re marfanoid crossovers. It is a nightmare. On top of that my child was recently diagnosed with another autoimmune condition which means they can no longer eat without injecting for the rest of their life. The effects of connective tissue disorders are so multi systemic as it is called "connective" tissue for a reason. What's most painful of all, is the lack of doctors and public awareness about how utterly debilitating it all is.PS its ultra annoying re medical assistance as EDS is NOT rare. People think it is but its been proven to be one in possibly 2000 rather than 5
I was already subscribed because I was diagnosed with hEDS last year but found out today it is actually Classical type. None of the articles were very clear and this helped a ton, thank you!!
Hey my name is Kristin spelled the same way and I have cEDS too. I have a rare case because I have a one of each gene mutations from each parent. One of the mutations has been found to be insignificant, but they still don't know how it reacts with the one that is disease causing. The COLA51 mutation I have is only known to be found in 4 other people (one being my dad) I am so grateful I was able to have such great geneticist care. My local geneticist sent all my stuff to Peter H. Byers who officially diagnosed me and did the full genome. I also have hyper pots, CCI, AAI, OTC, CVID, TRAPS/USAID, Gastro, MCAS, SFN, mitro valve prolapse. I also am on the spectrum and have sensory issues. I have many other things as well. It is really hard finding docs who understand this type as they only seem to know hEDS, if they know EDS at all. My skin doesn't heal at all and many docs are afraid to treat me. Thanks for sharing. I would love to connect with other cEDS zebras. It is really hard seeing so much info about EDS being only hEDS info. And I often feel alone. I do love connecting with anyone with EDS though, I am not picky, all EDS sucks and I never want other zebras to feel like they are less effected or important.
OTC like OTC Deficiency as in the urea cycle disorder? I was born with the same and I've never met anyone else who has noth EDS and OTC
No sorry. In this case I meant occult tethered cord
This was such a great video! Can’t wait for the next one as well.
Thank you so much!!
This was great and very informative! Thank you to Kristin for sharing your story!
thank you izzy for sharing this and keeping awareness out there. i love how upbeat and happy you are or try to be most of the time. sending you so much love 💕 from oklahoma your friend xoxo 🦋🦋🌸🌸💜💜
Thank you so much!!
@@IzzyKDNA your very welcome beautiful xoxo 🦋🦋🌸🌸
My cEDS was misdiagnosed all my life. Genetic testing in my mid 40s after I came completely "unglued" I also have Lupus. I have 2 daughters, both premature due to PROM and countless miscarriages and so much more. My first misdiagnosis was Purpura back in the late 80s. I carried so many mixed connective tissue disorders for the longest time. It wasn't until I started to climb the family tree did I really notice it. I am 49 now and my clinical diagnosis was instrumental in my ability to coordinate proper mobility assistance. I now use an electric wheelchair and they found an aorta dissection located at T2, the proper diagnosis opened up my coverage for my braces and other ALDs. My oldest has CP and my youngest has "Rheumatoid Arthritis" and Gastroenteritis which was caused from a bad surgery where they cut her veges nerve. My mom and one of her sisters have "Fibromyalgia" and the other sister is dealing with MS type symptoms. I'm sure all are cEDS misdiagnosed. Anyway, thank you for your research.
We also discovered MTHFR gene mutation (heart attack/miscarriage gene.
Hello! I just found out I have a cEDS gene (I tested after being diagnosed with hEDS). It's a lot to process & a lot to learn. Thank you for these videos!
Wow.... just watching Kristin talk made me realize that my story isn’t all that much different than hers. I was misdiagnosed with a blood cancer and placed on chemo pills. It was awful. I was eventually taken off of the chemo but not before I lost a good portion of my hair. I also have MCAS & cardiac valvular regurgitation but that cardiologist has yet to tell me which one. I’m currently undergoing more testing.
Thanks so so so much. This is my family❤️❤️
I was diagnosed with hypermobile EDS in 2013 by the U.K. National diagnostic service. I was very grateful to them for identifying why I had PoTs after 16 years of no diagnosis. I had whole genome sequencing and now I have had the results, and I’ve got a variant with COL5A1. I think, ( I’m not entirely sure) that that means Classic rather than hypermobile? I’m not sure if there are other genetic markers needed for a diagnosis.
More of a lurker than commenter usually but I figured Id share a bit, I really related to Kristen about how she felt leading up to and after her diagnosis. I was diagnosed recently finally and will be doing genetic testing this month, first round of blood tests tomorrow!! Years of doctors turning me away because of my age+Ive been in severe full body pain which I also felt like it was never believed too, Im 22 now and went through them thinking Lyme disease, Lupus, rheumatoid arthritis, Hoshimotos and more- Finally I can look forward to finding a treatment plan, feel better, and to finally not be a mystery medical case. I love your content, helped me better understand EDS in all forms, thank you!🌟😇 Good luck and well wishes to everybody!
Many EDS patients have Hashimotos, Graves and Lupus and RA as comobidities as hormones are the smoking gun of endocrine burnout which accompanies EDS and Viral load issues.
Thanks for creating this series! Looking forward to the upcoming scientific vid, too. 🦓
I'm a man who has the mutation but i dont really have any hypermobility or hypotonia but i have the other symptoms and also a lof of the related things like cardiovasular issues, GI issues, and have extra Mass cell activation, nerological issues. I also have adhd and am probably on the spectrum.
Izzy will you please do one on vEDS next?? I’m so curious about vEDS and want to learn more! This video was so helpful 😊❤️
I was diagnosed cEDS at 18 months old back in 1973 by the Shriners. There was no genetic test back then, and sometimes I wonder if I should get it. And other than my mom, I didn't meet another person with cEDS until I was 18. What a strange moment that was.
I have Classical EDS, my Neurologist diagnosed me with it and mine is type two. I’m 47 soon to be 48 in May. I don’t know anyone else who has classical EDS either.
Love it! Thank you.
Thanks!
Sorry one off the main differences. Thanks in advance xx great video very Information and we'll delivered
What a great video
My son has classical EDS. He was diagnosed when he was 6 from symptoms by a dermatologist, again at age 10 when we were at the ER for yet another set of stitches, and they did the genetic test last year which confirmed classical EDS. He was 27. He has a lot of joint pain, especially in his ankles and knees, severe fatigue, he's flat-footed with wide forefeet, doughy skin, and he has a hard time healing. One injury took 17 months to heal. He's never had surgery, but we expect healing problems if he does.
I have a very "usual" chronical illness, but I cannot find any community for that one - or any larger one which is open for everyone and really active. What I hate about the one I found for my illness, asthma, was the constant "Wow, you are so lucky, because I have it worse!" which is not how this works, and the average age of fifty made it hard to connect. So if anyone knows something, please give me a hint!
Brilliant and really informative 😀
Will you be doing videos like this for each subtype? I think that would be excellent 👌
Thank you!! And yes, I'm making one for each subtype as well as for HSD and unclassified types of EDS!
I was diagnosed with HEDS, however my dr thinks I have classical. With all my issues, she feels the geneticists should've done testing rather than just saying I do have a EDS. And pots. I do have sensitive skin, but it's not like super sensitive. And that's the only thing we believe wavered the geneticists diagnosis. Even though I have bruises that are months and months old. But at least I finally got a diagnosis of a EDS and I am able to let doctors know that I have it so they can go in when checking things and they know that it's not in my head that there is a cause but we just need to figure out other things as well. That makes sense?
Yes, that totally makes sense. And if you end up having classical, the diagnosis of hEDS is a great first step. Hopefully a doctor will decide to do some testing so that you can find out if you have classical :)
I have classical eds as well, root sparing valve operation on the cards for the very near future
I really want to do invitae testing because I think my dad has another type of EDS and I've been diagnosed with hEDS. But we live in Australia and I have no idea how invitae works in other countries
I think I have classical. My mom, sister and first cousin and aunts where tested and have eds. I have really elastic skin. I look normal but if I pull on my neck I look like that Dino with the neck fans lol I also have pain that comes and goes with my back hips my knees, so getting tested seems important. Thanks for this… I appreciate the vids
I'm sure my mother had it and I'm trying to get my son diagnosed . I'm positive my daughter has it too
Hi there, where's the detailed (more scientific) video that you mentioned? Love to see it. Please share the link again or point me to it. Thanks!
I've been diagnosed with type 3 but I have not done genetic testing yet to rule out other types. I need to find out what the cost is because it seems like it is very expensive.
I have a tnxb mutation that isn’t known to be clEDS so I was put into hEDS but there are some studies and works saying that tenascin deficient mutations are also clEDS... would enjoy a video diving into the tnxb mutations and Eds
I haven’t been able to afford the genetic diagnosis. I have classical for sure . I’m 59 & so much pain because I haven’t been able to get right treatment. Drs are ignorant!!
I have classic EDS, it sucks I have floppy heart valve and brain lesions from it! I have chronic pain and terrible wound healing yet no stretch marks during my 3 pregnancies! Which a lot of friends got jealous of and some even fell out with me over! (I was not flaunting it, they just saw my tummy by mistake) if only they got at what cost!!
Does anyone know how to read your raw DNA data or Promethease report for the EDS types?
Hello everyone, did any of you try Bpc157 to alleviate hypermobile EDS symptoms? It woud be great to hear your experience! Thank you.
Hi, my skin is very soft and velvet type even being a male people saying me you are very soft. My joints also get dislocated very easily. Please someone guide me what tests should i do and which doctor diagnose eds?
One of my best friends has cEDS
Lets get more information out about classical EDS as i have it
I have hEDS, and this sounds even more horrific 😢
So interesting I have a suspected mitochondrial deficiency and take a medication called Carnitor for the deficiency. My whole life doctors have thought I have had muscular dystrophy and I’ve been tested many times for md. My doctor wants to do another muscle biopsy to confirm the mitochondrial deficiency. I have sever muscle weakness due to it. I would be curious if anyone else has this problem. I also have diagnosed heds.
I thought main difference is feet involvement in classic like. Do I have this wrong
I don't wanna be different
I have it
And gastroparesis
I lost my foot because my wounds wouldn’t heal.
Would be fun if it was EDS instead of OCD health anxiety that causes my tmj. Plot twist thickens
You are doing an important job but it would be appreciated if you didnt smile so much when people are relating their heartbreaking experiences. It can seem that you’re not listening properly and seems inappropriate.
I feel differently about her smile. I welcome it. It shows how we carry on despite our setbacks.
Smiling is supposed to release tension.