Why I was diagnosed with Classical Ehler's Danlos Syndrome
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- เผยแพร่เมื่อ 16 มิ.ย. 2024
- Going more in depth into my appointment with the EDS specialist and what traits I have that made her diagnose me with Classical EDS. Don't know what EDS is? Here's a link to my video explaining:
• The Basics of Ehler's ...
Thank you so much for this video. I’ve suffered for 31 years with no answers and today I finally met with a geneticist who felt comfortable diagnosing me with EDS. I’m getting tested next week to confirm what kind specifically but I’m thinking classical because I have ALL the things you do. It brought me to tears to see this because I’ve never met anyone that had the same struggles as me and I’ve never even had a name for it until today. Thank you so much for sharing
EHS is serious. Very. She went out.of her comfort zone to do this video to help others. I am thankful.
You mean EDS? And yes, it’s definitely a serious disorder that needs to be taken seriously and treated properly.
I shared this video with my family after my diagnosis :)
I have all the same things. And got tested. Nothiing turned up on DNA. So I got the hypermobility EDS diagnose four years ago. I am now worse then four years back. So It is very serious. Stay strong :)
Thank you so much for this video. It’s extremely helpful. I’ve had severe health issues since I was a child and in my early 20s spent years seeing doctors trying to figure out what was wrong. No consensus was ever reached, but I don’t remember EDS ever being discussed. Now, at 35, I have just learned about this condition and almost every single health issue I have ever had seems to fall into CEDS or HEDS. My mother and grandmother also have/had many of the same issues I do. Thank you for taking the time to share your experience and educate others. I will be speaking to my GP tomorrow and hopefully I will be able to see a specialist soon
I hope you find your answers soon!! Good luck!
Thanks for sharing! I got diagnosed with hEDS the only difference from our symptons are the scars, I have atrophic scars, but our skin streches the same, I didn't get a genetic test yet, hope u shared about ur testing =)
Oh my god thank you so so much! This was so informative and there really isn’t another video that goes this into detail about their personal experience! Thank you again!
Ali Mak thank you so much for watching!!☺️
This is a great informative video that calmed me. Just wanted to say thank you. I thought EDS'ers looked special but you look completely normal so just that alone educated me and all the signs too, extremely good video.
Thank you!
Nope, we EDSers look like everyone else in the world, because EDS is an invisible illness. You can’t see it from the naked eye, however we can definitely feel it on our daily basis.
This video was very helpful. Thank you
Thank you for this very informative video! :)
Wow, this was amazing. I have all of these traits you demonstated you have in this video with the exeption of like 4. My great-great-grandfather was also named Stewart and I also got blue eyes. A lot of My joints hurt all the time So I am going to see a doctor soon
Super helpful! Thank you!!
Super helpful. Thank you.
Thanks for watching!
Hi! Who was your EDS specialist as I’m currently looking for one and this seems very informative and helpful. Thanks for the video
Her name is Dr. Shanda Dorff at Complex Cares LLC in Shoreview, MN. She has EDS herself and does video calls so can take out of state patients!
@@shelbystewart5495 Thank you so much!
WOW! I was able to do quite a few of those, but not everything.
Hmmm, I wonder...🤔
I am getting genetic testing for EDS. I think I have classic type because of my scarring. And my joints have never dislocated. Thanks for your video. I didn't think my skin was stretchy but after seeing you I think it is.
I think I’ve only had one full dislocation before. But I subluxate aaallllll day
@@shelbystewart5495 How can you tell if your joints have subluxed?
@@Catlily5 it’s hard to explain, but you can just feel that they’re “wrong” or out of place. Sometimes it hurts, sometimes it doesn’t, and other times it’s excruciating.
@@shelbystewart5495 Thanks for the explanation! My knee does that I think.
@@Catlily5 yeah! Both my knees sublux as I walk and it’s soooooo annoying
My Neurologist was the one who diagnosed me with EDS. And I, too have Classical EDS, mine is type two. I have skin hypersensitivity and I also have widen scars, those “ bumps” that are on your arm are on my scalp and my wrist. That happens to me when I scratch my skin, too. Ugh, Brittle nails and hair, 👿! I have redness on my cheeks, likely due to our cEDS. Are you lactose intolerant or gluten intolerant? I am and I was lactose intolerant as a baby.
Tongue backward is really hypermobile? I thought touching the tip of the nose with the tongue was... did not know the other things with the tongue were.
Really cool babe - thanks
Hah, I’ve been chasing a hEDS diagnosis for a year now. I can do all that bendy stuff and more. My friends and I used to play tic-tac-toe by writing on my skin with fingernails when I was in grade school.
Honestly I’m still not sure if I have cEDS or hEDS
@@shelbystewart5495 There can be a lot of crossover symptoms and features for sure.
@@zeynand4039 yep, except the hEDS has no genetic marker they can find so far, while the other EDS variants have been identified.
@@zeynand4039 not by the geneticist
I'm not hypermobile, but I have a lot of this. My skin is very stretchy, and I also have Raynaud's and dermatographism. Needless to say, my skin always shocks others. I discovered I also have a scar that is partially atrophic. I probably need to see a geneticist, but since I don't have serious symptoms, I don't want to be overdramatic.
It’s not over dramatic ❤️ everyone experiences EDS differently
Hi Shelby,
I have a lot of the same hypermobility that you do and I’ve been trying to get genetic EDS testing but my insurance refuses to order the genetic tests because I don’t have a family history of EDS. Do you mind if I ask what type of Doctor diagnosed you? And do you have to pay for the genetic tests out of pocket?
I also forgot to mention that I mostly have POTS symptoms and am waiting to get tested for it by a neurologist, which is why I want to get tested for EDS as well.
Hi Alery (Love your name)! I was diagnosed by a doctor in Minnesota, USA that has cEDS. However, I think I may have hEDS possibly instead of cEDS. I haven’t been diagnosed by a geneticist yet because the geneticist I saw was also not convinced I have EDS because I don’t have a family history. However, I’m looking into genetic testing through Invitae because they have an EDS panel. My insurance might cover it, but more than likely I’ll pay out of pocket. Hope that helps!
@@shelbystewart5495 thank you! And thanks for the info!
I’m in the same boat. My PCP was certain I have POTS. Soon as my state insurance denied any & all tests. My PCP told me there’s nothing wrong with me & I need to see a psychiatrist. I’m pretty sure I have some form of EDS but I know I’m not profitable enough for any dr to care. 🤷🏼♀️🙄🤦🏼♀️
I have all the same symptoms as you minus Raynaud's plus some more things. And im sure there is a lot you didn't mention 😪 did you get the genetic results back?
Turns out the geneticist I went to see sucks and she wouldn’t DNA test me 😫 she said it “wasn’t worth it”
@@shelbystewart5495 many geneticists won't bother unless it looks like vascular EDS since the other types don't have reduced life expectancy.
I have the heel bumps and the col5a1 gene so I think it's a classical symptom maybe just not as well known
It’s part of the major criteria for hEDS
Same
Where are you located? I need a dr in Louisiana or Mississippi or Houston
I just started watching this but can you explain what the red dot is and how it pertains to EDS? My daughter and I are both diagnosed and have weird red dots on one or a few places on our bodies. We have no clue what they are. Also, sorry if you explain in the video and this question is asked impulsively. Gotta love my ADHD that tells me I must ask now!! 😂
Are they there permanently or do they come an go?
@@shelbystewart5495 permanent. My daughter said she got a new one and she only gets them on her palm. I get them on my fingers, usually.
I had all of the joints and half the tongue 👅 but my skin isn’t stretchy, but what the heck I have the foot bumps and red skin and raynauds
BUT what is the disease?
You don’t have to have super stretchy skin to have EDS. You could have Hypermobile Ehlers Danlos Syndrome which doesn’t have as many of the skin issues. Here’s the most up to date criteria for hEDS diagnosis: www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf
Brittle hair is a sign of fragile poor collagen/protein levels in the hair, too. Same with laminar splits in nail.
These bilateral papules are seen in all types of connective tissue disorders. So they would be seen in all types of EDS. Xxx
Yes, I didn’t mean to sound like it’s ONLY from cEDS. More so I meant it’s one of the reasons why I was diagnosed with EDS in general.
What made your dr decide it was cEDS and not hEDS?
She said because my skin was so stretchy and sensitive, but I actually don’t think my skin is THAT stretchy compared to most people with EDS.
When you get a eds diagnosis
You need genetic testing
These types of EDS has known genetic mutations:
• ARTHROCHALASIA EDS (aEDS)
•BRITTLE CORNEA SYNDROME (BCS)
• CARDIAC-VALVULAR EDS (cvEDS)
• CLASSICAL EDS (cEDS)
•CLASSICAL-LIKE EDS (clEDS)
•DERMATOSPARAXIS EDS (dEDS)
•MUSCULOCONTRACTURAL EDS (mcEDS)
•MYOPATHIC EDS (mEDS)
•PERIODONTAL EDS (pEDS)
•SPONDYLODYSPLASTIC EDS (spEDS)
•VASCULAR EDS (vEDS)
The only type of ESS that has no known genetic type: is HYPERMOBLIE EDS (hEDS)
She would of had a positive test that showed up CEDS and passed for it instead of HEDS
I have a 9/9 Beighton score
and stretchier skin than you but can’t get a diagnosis!
I am running from doctor to doctor and i have all the symptoms except 2. I am way above the cut off for a referal for gebetic testing. Yet i have blue hair and therefore my pain must be psychosomatic 🙄
I have purple hair now so I feel that 😭
@@shelbystewart5495 i had a screening now (called and they had a cancellation i could attent) and the doctor couldn't genetically test me bc i am not hypermobile (very tight muscles due to percieved instability) and the health insurance only pays when there's hypermobility. So yeah, aren't hypermobile, don't habe 3500 bucks? No test for you. Let's see how this ends
Your skin is pretty stretchy.
Hi, do you have boyfrind??
Nobody should be diagnosed with a genetically provable condition without genetic testing first. Same like "self diagnosing".
Genetic testing for EDS is only about 60% effective currently, so they told me it would be a “waste of money”
You are absolutely normal, that’s ridiculous how you are trying to prove that you are sick!
Says the lady with probably no science or medical degree 🙄 this is an actual disease and is hard to diagnose but it has many implications on the body and cause many problems.
Lol
At 8:41 ,she says she's got defective collagen
EDS-Ehlers Danlos Syndrome is a rare genetic connective tissue disorder
And it’s a invisible disability
Your comment shows that you’re ignorant as well as rude. There are medical conditions that are invisible to a TH-cam audience.
I have hypermobile EDS which wasn’t diagnosed until I was 69, mainly because doctors aren’t getting enough education about it when they’re medical students. My joints don’t dislocate, they sublux but this version isn’t as well-known. Until I met a particular gentle chiropractor who stabilised my joints, I’d be in bed for one week every two months.
I had endometriosis, adenomyosis, chronic fatigue and interstitial cystitis for over 30 years, heavy menstrual bleeding for 10 days, frequent sprains, tendon and ligament tears, labral tears in both hips, DISH Syndrome (skeletal hyperostosis) from neck to coccyx, early osteoarthritis in every joint that was visible on x-rays from my early 40s. All of the above are known comorbidities of hypermobile EDS. I’ve also survived Grade 3 infiltrating carcinoma (breast cancer) which is now being suspected as another comorbidity of hEDS. I had a less than 40% chance to survive 15 years because of the size and grade of my tumour and I had a negative estrogen receptor status so drugs like Tamoxifen would have no effect. Also, progesterone doesn’t work the same for those with EDS. I learnt this from Dr Sharon Meglathery, a medical doctor who has hEDS. Her website is www.rccxandillness.com. She has an excellent Facebook group for anyone who'd like further education on EDS.
Most of the comorbidities require more pain medication than usual. None of them would be visible to anyone watching a video. Those of us who’ve already been diagnosed or made aware of the different types of EDS are trying to enlighten and share our education with those who who are still struggling with a set of symptoms and signs that they can’t get answers for.
Omg 🤯I thought everyone was able to do all of those things! Until now 🥲
The only thing I’m not able to do is touching the floor without bending my knees… but I do have back issues