UNCLASSIFIED types of EDS
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- Опубліковано 14 тра 2024
- Ehlers-danlos syndrome is classified into 13 types, but did you know that there are actually more than 13?! In this video, we talk with two people who have unclassified types of EDS.
Lacey's Instagram: / more.than.midodrine
Madi's Instagram: / chronically.stretchy
My Instagram: / izzy.kornblau
SOURCES:
medlineplus.gov/genetics/gene...
pubmed.ncbi.nlm.nih.gov/15837...
www.ehlers-danlos.com/eds-types/
www.ehlers-danlos.com/other-t...
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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
FTC Disclaimer: This is not a sponsored video.
As an Amazon Associate, I earn from qualifying purchases.
#EDS #ehlersdanlossyndrome #edstypes
I just want to say, as someone who might have a rare type of EDS, I truly appreciate others with rare types who are using their platform to educate. I think it's extremely important to talk about the very rare types because there just isn't enough info out there. People giving their first hand experience is so unbelievably valuable!
yes! it is so valuable and so important, i am so thankful i had the opportunity to share my story with a very rare type. i am also so thankful izzy used her larger platform to educate cause it’s impossible for those with rare diseases to do all the education alone.
@@mads4936 exactly! That's one of the reasons I love her channel so much, especially the new series she's starting where she breaks down all different types of EDS. Most of the information out there surrounds the hypermobile, classical and vascular types. It's great to see people talking about it. It's amazing that you share your story with us and bring awareness to just how underresearched EDS really is.
Just diagnosed with EDS yesterday after 22 years of pain and complications. Thank you for helping me find my diagnosis 💜
I have 23 and I was officially diagnosed today and I also need to thank u because I realized all of my troubles had a response in HEDS and I discovered HEDS because of u. Even tho is the most common type, it's not a common syndrome and that u represent it is very important and with your videos u are changing many lives
I cant even get Genetically tested. Here in Minneapolis the UM states "we do not treat Ehlers Danlos." no one to diagnose and no one to treat, no careplan. So, a big thank you for all your work and for this channel. Makes me very happy.
There’s a Dr Atwal in Florida that does online video consults
Iowa is like that too
I think maybe some of the reason some of these types of EDS aren't in the classification because there's not enough cases yet to fully build up a criteria?
I've wondered this too, and I also feel like it plays a role!!! Though at the same time, some of the classified types have only like 10 families in them, and I believe some of the unclassified types (like Lacey's) actually have more people in them lol
Thank you so much for this video! My daughter’s DNA showed she had an elastin mutation, and confirmed my suspicion of EDS. I have fought doctors for years to prove something was wrong. She also has POTS.
Go mama!
Lizzy, thank you SO MUCH for doing this video! My 16 year old adopted Ethiopian daughter (no family history) was diagnosed with "Filamin a gene mutation with a Periventricular Heterotopia/PVNH with Ehler's Danlos features" and this is the FIRST TIME I have found anyone on youtube talking about it! We have been on an island with this diagnosis! One doctor said it is so rare that he would never again see a patient with this diagnosis in his career and said maybe 1-2 people per million have it.
Hey there! I’m sorry it’s so hard to find doctors familiar with this!! In cardiovascular genetics at Mount Sinai in New York, I’ve actually seen / know of a few patients with this. I’ll try to put out more content on this in the future!!!!
I have an FLNA mutation, and this is some of the only information I've been able to find on it. Thank you.
I also have the flna mutation and most doctors try to tell me symptoms are probably not from that mutation, so frustrating
Y not an EDS-NOS
Ehlers Danlos Syndrome not otherwise specified
15:03 - Good point on the avoiding muscle relaxers! Those are thrown around a lot at patients for pain relief, but can actually be risky for certain EDS patients. For muscle relaxants, my doctors generally only give the alpha-2 adrenergic receptor agonist Tizanidine to their EDS patients, since it's a skeletal muscle relaxant. Interestingly enough, Tizanidine's sister medications Guanfacine and Clonidine are sometimes prescribed to treat hyperadrenergic POTS.
Personally I had an insane reaction to Tizandine so there's never going to be a 1 size fits all. Unfortunately my doctors don't know enough about EDS to tell me why. :( adrenaline may be a factor like you mentioned. I think they're hoping to catch it with a fasting cortisol test. Thank you for sharing!
I was given a muscle relaxer last summer before my diagnosis. It was great to release my muscles where I was tight like the Hulk, but then awful for my looser areas like my hips because they kept subluxating constantly, causing pain in other areas. When I told my orthopedist that, he took me off of them immediately and asked me if I knew what Marfan’s and EDS were. He ended up giving me a referral to a geneticist who diagnosed me almost a year later. So, in the end, I’m happy for the muscle relaxers :)
@@Laundrey1 Yeah, muscle relaxers have to be used with caution, due to them making it easier to sublux because of less muscle tone. Glad that the medication led to you to being properly diagnosed!
The Mestinon (Pyridostigmine) I take to treat both my POTS and gastroparesis increases muscle tone, and I take low dose Oxycodone at set times during the day and nightly low dose Clonidine (not a muscle relaxant) to manage my pain.
@@kittyarcade2296 Yes, like me, you may have some dysautonomia related to adrenaline or more likely norepinephrine (noradrenaline) that seems to be common in EDS patients. What was your reaction like? Were you on any other medications, like a beta blocker or anything else? Tizanidine signals the body not to release so much norepinephrine into circulation, which calms the sympathetic nervous system and "fight or flight" response. The reduction of norepinephrine helps to lower the heart rate, prevents excessive vasoconstriction and vasospasms, can reduce sweating, and has other calming effects. This is how this type of medication can treat hyperadrenergic POTS, where a person either has way too much norepinephrine in circulation or has a body that overreacts to norepinephrine. Its sister medications Guanfacine and Clonidine are more commonly used to treat POTS, since those two aren't muscle relaxants - although Clonidine does have analgesic properties that can reduce pain.
oh my god, i was given a muscle relaxer by my pain management doctor and was fucked up for over a week. i had probably three or four times the amount of dislocations and subluxations that i usually do (which is already a lot) and spend days unable to stand up on my own because of how unstable my entire body was. i like to describe to people that i have to basically consciously hold my skeleton together because of my hEDS, but those muscle relaxers made it impossible to do that. 0/10, do not recommend muscle relaxers if you have EDS of any kind
It’s so interesting hearing everyone’s unique stories. I love when you do interviews, Izzy. Thank you for all your hard work and dedication to our community.
There is a comorbidity of EDS with some rare forms of muscular dystrophy. I've been binging your videos and I'm going to urge my family members who have MD with some of the symptoms you've mentioned get tested.
*autocorrect got me
I just wanted to say thank you, I was recently diagnosed with hEDS and your videos helped break down the diagnostic criteria before I went for assessment and diagnosis!
I am so jealous of doctors who actually run genetic tests. My children's geneticist refuses to run an EDS panel of any kind. And has diagnosed all three of my kids with hypermobility type. I live in a rural area where the closest geneticist is two hours away and there's a year wait to be seen. When I asked specifically for genetic panel to be run I was denied. I am told that my children fit ths diagnostic criteria for hypermobility EDS so well that there is no reason for genetic test of any kind. Have any of you had the same experience?
One of the criteria is EXCLUSION OF OTHER TYPES OF EDS, which can be done only by running genetic panel!! Complain officially to authorities about medical gaslighting you are subjected to!
I had my organs prolapse when I was 15 and it still took a year to get in. This is after two years of begging them to find something. So for a total of three years. I have been denied within the medical system, a lot. So not uncommon. Unfortunately not all doctors are good and the medical system isn't great
Hi Izzy! I just saw the neurologist today and he diagnosed me with EDS! After years of running around to the wrong doctors and hitting dead ends I finally saw the right one! I also have a referral now to a geneticist too so hopefully I can find out which type it is but I am guessing its the common hEDS? I also had no idea there were unclassified types! One of my new doctors (one who actually believes & understands my problems) is trying to find me a better allergist to do the MCAS test as all the allergists I have seen only test for IgE so if you don't have that they say nothing is wrong with you & kick you out the door - even though you are reacting to countless things! So this diagnosis is a great start! And the neurologist I saw today also understood my hypersensitivity too! If it wasn't for you & your videos I would still be clueless and running around to allergists and getting nowhere. And my PCP has no idea what EDS or MCAS is. I guess she will have to learn now! I actually had to tell HER that I believed the core of my health problems was EDS (as she kept trying to blame it on anxiety and thought a shrink would fix it).. But left to just her ideas I would have gotten nowhere..because she could not understand what joints had to do with the gut....so yeah I had to explain they both contain connective tissue! It's so weird that the costumer has to explain stuff to the doctor! But she listened to me (I think in part because my problems were driving her nuts! And I kept saying NO to the shrink as I knew I fit all the criteria for EDS). Ha! I guess she will have to learn about it now! I think I said that twice now... 😀😅 but boy I bet she will be shocked! Can you imagine that? The costumer was right and had actually diagnosed themselves correctly! 😅 plus she had referred me to 2 different drs and they BOTH said the same thing: EDS! 😅 I guess I am a bit excited so rambling on here as its been a long journey to get this diagnosis! Thanks again for making these videos!
I'm very interested in the fact that Madi was diagnosed with a subtype of EDS as opposed to a type of Marfan's because traditionally, EDS is a collagen disorder and Marfan's is an elastin disorder. I suppose it's because Madi's symptoms are more similar to traditional EDS symptoms but it still seems strange to me.
I think her symtptoms fit a lot more with EDS, and her mutation is in elastin not fibrillin :)
@@IzzyKDNA yup! i pass both scores, but my team feels i align more with EDS than marfans. but as of now we believe it’s a new disorder or some other complicated things.
@@mads4936 Would you mind posting the paper that you talked about in the video involving a study with someone having "right side of body super tight, left side of body super loose". Thanks loads in advance.
This is so interesting! Hopefully this video might lead to some connections for Lacey and Madi
that’s what im hoping for!!! ~madi
I really appreciate you doing a video like this. It really shows how much we still need to learn about all of the EDS variants.
Totally!!
Thank you so much for doing this video♡
Love your channel ❤️
Wow this is super cool info Izzy!! Thank you for continuing to raise awareness ♥️
Thank you so much for making this video! I love your style of videos. You share education info in such a fun and unique way! Love learning more about this disease
This is so exciting news to me, thank you ❤
Hi Izzy, thank you for doing this video!! I don’t have one of the types of Eds however I have never been genetically tested, my chart literally says Ehlers Danlos Syndrome “unspecified”. You did however with this video make me go down a rabbit hole after hearing the heart defect info I did more research. I have an atrioventricular septal defect, but was told I didn’t need genetic testing because I didn’t have any signs of dissection or aneurism. This video makes me think I should try to push for the testing myself tho, because I learned that defect is more common in classical and vascular 🤦🏻♀️🤦🏻♀️ so thank you!
Try to get a clear diagnosis and a doc to help you manage it.
Just wanted to thank you, @izzy Kornblau for sharing your wealth of knowledge. Thanks to you, I've convinced my GP to send me to specialists and have my very first appointment at the Ehlers-Danlos Clinic at GoodHope in Toronto in a few days! Videos like this help me keep pushing to get myself figured out, so I can get the help I need to be healthy again. Big hugs, chickie!!
My Daughter and I are going through the process of getting a diagnosis at the moment. My daughter is like one of your friends she had fits as a child and a heart murmur. I am similar to your other friend I have a build up of Calcium at the top of my skull, extra bones on my kneecaps and a few extra ribs. My mum has hEDS also, you'll be pleased to hear she turned 98 this month. So don't think your lifespan is limited because of EDS.
I see the angel in all three of you. Thanks for the content and good vibes!
Your explanation makes sense.
Ohhhh I definitely align with the one half of the body doing one thing, and the other half doing another. Especially with reaction to local anaesthetic (or lack of).
This is so amazing to bring different stories and you give such great questions and thanks a lot to the girls for sharing their story!!!
thank you! im glad i got to share mine!!!
Love this info! I was diagnosed with hEDS, but I have a variant of uncertain significance in the BGN gene, and I’m very interested in how my diagnosis might change if more is discovered about this mutation. I was told there’s at least one family out there with the same mutation that’s being studied.
It may be time for me to have the genetic testing. I refused when I was diagnosed with hEDS in 2008. At the time I was worried about what insurance companies would do with our genetic data etc. However, I’ve only met 1 other EDS’er who has joint degeneration as fast as mine. I’ve got no cartilage left in my hands & some of tendons/ligaments now move back & forth over the knuckles whenever I move my fingers. There’s nothing left to hold them in place. I’m 46 with the hands of an unknown age. Rhuemy said he’d never seen joints deteriorate so quickly. Dr thinks I might also have “erosive osteoarthritis” or “psoriatic arthritis”. Waiting for test results. They just can’t figure out why my hands have gotten so bad I’m just a decade. My 19yo was diagnosed 4yrs after me when she was 10. I worry that her joints will be just as bad as mine no that maybe it wasn’t that I just always worked physical hand intensive jobs. I’ve slept in a recliner for over 5yrs just because of the damage to my tailbone and hips.
I was told years ago I have Type 3 Plus. Has anyone heard of that type? I have also been down the MS road, been diagnosed with Pre-MS and am going to be seeing a neurologist again soon to have it ruled out again now that I'm almost 40. I was told I'm Type 3+ because
-mine is so severe in the joints. I started surgeries at 6 yrs old on my feet due to walking on ankles. By my 20's, I had 16 surgeries. I'm now 38 and have been delaying spine, double knee and double hip for a while. Ribs at shoulder blades dislocate, spine dislocates, many others.
- have lesions on the brain
-growths on spine.
- complex partial seizures (without activity on EEG)
Possible MCAS (I was just introduced to this and am going to talk to doctor about it)
-severe nerve damage
- memory/vocab loss
-severe leg tremors that can start out of no where and/or start when leg is put under stress (like when doc does strength test on legs or when I get scared and legs stiffen up). My arms and upper body shake 95% of the time non stop as well.
Among other symptoms including a few bouts of beginning stages of kidney failure. I was told the "+" basically meant that I crossed over into other types. What would you guys call that?
Type 3 has been reclassified as the hypermobile type 😊 they don't use numbered types anymore, or atleast they're not supposed to. I'm not sure what "+" means, I've never heard of that. I guess if your doctor told you that you have more than one type, maybe they don't know what the second type is and that's just a way of saying it? That's my best guess.
I have almost all of the neurological symptoms you mentioned, we’re ruling out MS but my neurologist is also testing for tethered cord syndrome and Chiari malformation, and small fiber neuropathy if my brain MRI is clear. Might be worth looking into if you haven’t yet!
@@m0sspunk thank you! MS has been mentioned in the past many times but ruled out. The others havent though. I'll talk to my neuro.
I was diagnosed with hEDS and then was sent for genetic testing this spring. When the results came back we thought that it was going to come back with vEDS, but instead it came back as unknown unknown significance. So we were sitting there going what does this mean? We know that it is majorly effecting my life and has been, but what does this result mean. The doctor said that it means that there is just not enough information yet, and to keep checking back. That hopefully in time they will have more information. I kind of felt more frustrated. They said that I am definitely hEDS, and POTS, gastroparesis, I also have a lot of neurological issues. But I was just really hoping that when we did the genetic testing there was going to be a definite answer. I don’t know if this is a common thing for people who have EDS who go in for genetic testing?
Welcome to the boat ive been in for 10 years :) we should nominate a captain!
Me
It is common, unfortunately. My son has a VUS on COL12A1 and I have one on NOTCH1. We were told to just keep checking back in with genetics every 3-5 years in case anything new comes up for our variants.
“VUS” doesn’t necessarily mean it’s not an answer, there just isn’t enough data to understand the significance of the gene mutation. It’s still really frustrating though.
They put me in unspecified. The gene is most common with people with mEDS but I have a major symptom nobody else has which was stage 4 pelvic organ prolapse at 15. Honestly, the testing can be way confusing
I just want you to know how much all your videos mean to me. They have lead me to an understanding and peace of just knowing I’m not crazy and not alone.🥰
So glad to hear this. ❤️❤️❤️❤️
Great job Izzy, is there collagen blood tests or anything that can accompany genetic testing?
All such beautiful ladies. Praying for you all.
Very interesting! I don't know what i have. My symptoms are more like hEds but i also have the FLNA mutation. I had a grand mal seizure at 5 that left me paralyzed on my left side for a few hours and a small seizure as a teen but no one else in my family has had seizures but we all have hypermobility and heds symptoms
This is very interesting. I have hEDS and a novel form of osteogenesis imperfecta and I'm getting more genetic testing to see if I have combined OI/EDS.
I have a flna mutation a variant of unknown significance. I don’t have pvnh EDS. Thank you for the explanation of the role that flna plays. Better than my doctors explanation. My doctors don’t really know what to make of my mutation or if it relates the weird intricacies of my health. I hope in the upcoming years we will know more info. Right now I’m floating under the h-eds classification.
I just found out I have a FLNA VUS and I did have a SCAD heart attack 3 years ago at age 47 and have been having many different issues with hands and feet over the years and have some lesions in my brain MRI but they are not sure why. Hope you also get answers and feel better!
Thanks for this video. I'm clinically hEDS with a suspicious TNXB. But it's still too early days to know for sure, because you can't test the levels in normal doctors. I have features of clEDS.
So… can they just do a genetic test for “whats wrong with me?”. I always thought they had test for specific things. My doctors have no idea what’s wrong with me, but my joints hurt when I put pressure on then for more than a few minutes. If I sit on my feet with my knees bent, my knees will hurt like hell after 10 minutes, and really hurt when I straighten them out again. But they don’t hurt when I move regularly. But i can’t walk for more than hour without my knees hurting till I have to stop. But it’s in the connective tissues not the bone. All my joints are like this. If I lean my head on on my hand with my wrist bent, then my wrist will have the same problem as my knees. Any joint is the same. But I don’t have stretchy skin. It’s been getting worse for 30 years and now my back is popping and I’ve have three pinched nerves in two months.
They do have full genome sequencing where they might be able to find out what's going on if you have a genetic disorder! But also, genetics is so confusing and sometimes it's many many genes/inherited traits combining to cause these issues, so in that case, I don't think genetics is advanced enough yet. But hopefully one day. In teh mean time I really hope docs can help you manage your symptoms a bit better, though.
 ok. So, maybe. Got it. Thx.
I am getting all my genes tested, so yes but my insurance doesn’t cover it and it’s over $4000 😰 but I think insurance companies are starting to take genetics more seriously so who knows. When you go to a geneticist they will check you out to see if it could be anything that wouldn’t be genetic, also don’t let them scare you when I went there was talk of cancer but based on the amount of time you and I have had symptoms I highly doubt that would be a thing to worry about. Also like Izzy said they will tell you that you could have just got a group of genes that causes these symptoms.
I’ve noticed that a lot of people with EDS regardless of type have curly or wavy hair could have no correlation but I thought it was cool😂
i’m diagnosed with hEDS with a variation of unknown significance in my COL12A1 gene. mutations in this gene typically cause myopathic EDS, but i definitely don’t have that. so they just kinda threw the hEDS label on me but don’t really know lol
I have hEDS and three connective tissue variants of unknown significance, two on classical EDS genes. I’m so curious if more research will lead to those genes indicating something more specific about my hEDS.
I also lost vision in one eye. They won't do the gene test on me.
Sorry, I got emotional. We have a public health system in Canada and if they assume it's hypermobile EDS they won't test you even if you present with symptoms of VEDS or other strange symptoms. It's very frustrating because we want to make educated decisions about the best forms of treatment but that's hard without knowing our risks. I lost movement in my hands for six days, lost muscle movement in my face on the left side and had burning pains in all my joints and rather than doing a gene test, i was told it was psychosomatic. This is health care in Canada. Sorry for the rant. It's really frustrating here.
My family type, whatever it is, has brachydactyly (missing finger bones.)
We are diagnosed with H-EDS, but we have known mutations for SCD-EDS maybe one day we’ll have an answer on whether or not we actually have SCD-EDS or not, but thats not until more research is done im assuming. -Annabeth and Hermione cofront
i have had the same thing! diagnosed with h-eds, but have some variant of unknown significance regarding the genes of scdeds. nice to know im not the only one!
Like I present closest to cEDS but my mutation is TGFBR1…and I don’t have the horrifying dissections that someone with LDS1 often has
I have a TGFBR1 variant also, thankfully not Loeys Dietz syndrome, I’m hEDS plus multiple severe allergies and most forms of allergic disease, so secondary MCAS because it’s IgE triggered. I’ve been wondering if there are others with non-LDS variants on TGFBR1. Do you have allergic diseases? Have you heard of others like us?
Plus POTS, and more. Thanks
I’m waiting for genetic testing results (without clEDS because it’s through invitae) so I really appreciate the heads up that there’s unclassified types 😅
My daughter has a variant of unknown significance COL12A1, which could be myopathic EDS, which is a overlap of dystrophy and connective tissues problems. We are waiting to get back into the doctors. But she presented just like Madi at the age of 13 with pots, CRPS GI issues
My diagnosis came back as Osteogenesis imperfecta overlapping EDS,but is not listed in any database...🤷that's what report said
I also like when people like to know about my disability. I wonder how common this is among people with disabilities.
Do you know much about PRB3M Periodontal Ehlers Danlos
Could Osteogenesis Imperfecta be a unclassified version of EDS? My sister and nephew as well as other people in my family has OI.
This was a lecture on a conference that I found. I am not too familiar with the speaker. He does show slide pictures of different types, discusses the most common types of EDS, and the end was the most important one for me--the mast cells part:
ua-cam.com/video/sgeXw9FtbAA/v-deo.html
I have 5 different ADAMTS2 variants as well as 4 COL11A1, 3 TGFBR2 and 1 unknown 1 possibly pathogenic ELN variant. I’ve been told it’s just HSD but I have really stretchy skin?
How much do you know about duplication 12p and Ehlers Danlos Syndrome
I went through my odd symptoms that I have had all of my life, with my POTS cardiologist on Monday. He said I have hypermobility and told me its could be a form of EDS. I can dislocate my shoulders and hips but not do the typical things heds can do. I don't fit criteria 1 but pass the rest. He told me if I wanted to know I would have to go to a geneticist. He didnt refer me though 😒
Why did he not refer you?
@@MK-mj9gx I don't know. He also didnt refer me to the autonomic lab at the hospital he works for. I was surprised at both because he worked with Dr. Grubb when he was in Ohio. Maybe I expected to much or maybe he has already released his new hospital is severely lacking in the education to pursue such diagnosis
Wait what? I lost sight in one eye when I was 12. I'm diagnosed with hEDS because they don't really suspect any of the other EDS types and that disqualifies from genetic testing here in the Netherlands. My hEDS diagnosis has been contested by multiple doctors because although I get a 5/9 on the Beighton scale, I cannot really do the 'party tricks' (also I barely fit the other hEDS criteria but many doctors have no idea those exist). Can you help me get more info on the elastin mutation? Or get me into contact with Maddi (her IG link doesn't work for me)?
Hello Izzy, did you ever heard of someone who developed a connective tissue disorders later in life like around the 30's? I am currently being investigated for Ehlers-danlos because my skin and joints are more and more flexible every weeks. The rheumatologist have concluded that I needed genetic tests. However I have never presented signs of connective tissue disorders before in my life, except for joints pain and many years of fatigue and chronic pain. All thoses changes arrived after an infection 5 months ago. After that my body started to change, including changes with laryngeal, cartilages, esophagus, digestion, tachycardia, POTS, and more. It's so weird...
Look also into hypothyrodism and your diet. Like too much plant food in my diet cause my hypothyrodism to progress and my joints hurt and my muscles get way too weak. I was quite hypermobile but since fixing my thyroid it got better. I used to be able to sit i to a split without a warm up
I got POTS out of nowhere getting tested for eds,marfan,klinefelter
Look into copper metabolism disorders, zinc, vit c deficiency, folate problems, lupus, plenty of other reasons connective tissue may get damaged.
I have trisomy 12p duplication Ehlers Danlos Syndrome
Very interesting! Thank you for sharing.
What are your symptoms?
Primarily the general hEDS symptoms mixed with thick eyebrows, Macrocephaly (enlarged head), autism, Madelung’s Deformity, syndactyly, extreme extrapyramidal syndrome, osgood schlatters, iga vasculitis (Henoch schönlein purpura), dual-blood type (I have two blood types due to being a twin and having an extra chromosome) It also caused enlarged tonsils and adenoids causing extreme sleep apnea (I would literally code without my APAP before my T&A) i have rem sleep behavior disorder I was also told it is what caused my behavioral and mental health trouble including atypical ocd, severe borderline personality disorder mixed with bipolar I was told that all of this was caused from the trisomy which caused a lot of brain differences including the typical known change known for savant syndrome which I actually am a savant
amazing vidoe i enjoy very cool pretty beautiful stunning queen
Are the seizures she talked about epileptic or non epileptic?
This is fascinating. Thank you to all three of you xxxxxxxx
Hello 👋 I just had a question I hope someone could answer for me,
I’m going down the EDS criteria (I’m almost 100% sure I have it) when I see the height to wingspan ratio.
My question is, is a ratio of 1.016 smaller or grater than 1.05?
Smaller :)
Hi, I know this is unrelated but what does anyone know about the topic of EDS and ASD together?
Based on anecdotal evidence, it sounds like there may be some sort of link. I have heard of many, many folks with both EDS and ASD, but I don't know if it has been formally studied. If I can find any papers on it I will post the links.
There has been some recent research out of Sweden that is quite interesting, and indicates that there is a relationship between EDS and ASD. If you Google "EDS and autism" you can probably find more articles, but here are two to get you going.
www.autism.org/researchers-have-identified-a-relationship-between-ehlers-danlos-syndrome-and-autism/
www.dovepress.com/prevalence-of-adhd-and-autism-spectrum-disorder-in-children-with-hyper-peer-reviewed-fulltext-article-NDT
@@nicelliott1175 Thanks so much- really, I'll definitely look into them :).
Often comorbid and also with ADHD and other neurodivergence like OCD or anxiety.
In my house I have hEDS and ASD and ADHD, then my oldest son also has hEDS, ASD, adhd and anxiety, and then my daughter also has adhd, OCD and hEDS and my middle son had hEDS, adhd and Tourette syndrome and finally my youngest also has adhd, ASD and Hypermobility Spectrum Disorder (he's the least Hypermobile out of all of us.)
They said neurological disorders might be linked with it, yes. I have autism and mEDS
How many unclassified subtypes are there? The geneticist I just went to almost 6 months ago did a lot of new genetic testing on me bc I haven’t really got a subtype yet. I’ve an appointment in 2 weeks to get some of the results. The geneticist is not a specialist yet, but a doctor « in training» to become a specialist in genetics. She was kind of awkward, to be honest. I was diagnosed 20 years ago with Ehlers Danlos Syndrom, at the age of 30, and we all know that there’s a possibility we might not be able to score full score on the Beignthon scale when you’re 50 yrs old. One of my elbows stiffened , so that made me score 1 point less than what I did as a 30 yr old. When I was first diagnosed my score was 8 of 9, and last time it was 7/9, and the doctor said « I don’t think you have EDS after all»- and this was 6 months ago. I was very taken back with that statement- it was like she doubted the specialist who diagnosed me 20 yrs ago. I didn’t know what to say, bc she behaved very suspicious all from the start, like I was some kind of impostor. But I asked her if she thought my connective tissue was normal, and she said - there’s definitly something going on with your connective tissue - and that she would have a number of tests done. Those were done only a couple of hours later. After talking to her a bit more, she agreed to let the EDS - diagnose stay in my papers like it has been for the last 20 years. However, I will be having a second opinion in another hospital in a different part of the country. The female geneticist I saw in october 2023 was too unsure, too sceptical, and way too social awkward to make me feel that she would find out what is going on with anything. She thought that I might have some kind of mutation regarding Elastine , as I’ve some stretchy skin on my torso, and face, but in other places it’s too tight. I also have very fragile bloodvessels, and having cannulas for i.v infusions placed is a nightmare. I don’t have any heart issues- or not that I know of. I’ve got MCAS and I’m very allergic to Penicillin and 8 types of antibiotics. I’ve also got ESBL due to a UVI ( urin infection). I often get infections, everything from uvi, wound infections, skininfections, pneumonia, throat infections, ear infections- you name it! 😅
My fingers are often sub or dislocating- but they always get back in place by themselves. Other joints that sub or dislocate are my knees, my right hip , shoulders and my left elbow, my jaw and some of my ribs. I bruise easily, and bleed easily. My pancreas is bonkers - pancreatic failure due to clogged bile ducts after having my very infected gallbladder removed- together with 3 gall stones - yuck! I just hope that the new genetic tests show something so that I’ll finally have some answers.❤
I knew someone with PVNH EDS
Really enjoyed learning about these other types. Thanks Izzy.
Your channel is so interesting Izzy! And you are a very good at explaining all thoses topics. I wish you do a TedX one day! 😁
I wonder if Hereditary alpha-Tryptasemia patients with EDS might fit a different category? My joint issues are more mild compared to most hEDS or other EDS patients in that I don't have dislocations and just some subluxation. What I mainly have is widespread joint and muscle pain and spasms. HATS causes me many problems such as mast cell like reactions, POTS and now some pretty serious brain fog and memory problems. I know those are common in EDS and hEDS as well but I don't know if severity matters with this sort of thing. POTS and the allergic like reactions are worse for me than the joint and muscle pain.
Have you had your full genome sequenced? There's a locus near there that imo could explain a lot of some phenotypes of hEDS
Is there a form of Eds that doesn’t have hyper mobility or skin elasticity? I developed a prolapse and 3 months later developed pots, but I definitely and not hyper mobile and I don’t have stretchy skin. You mentioned prolapse and eds before so it makes me wonder if there’s a connection.
No there isn't one without hypermobility. Maybe something else is connecting them or it's just an unfortunate coincidental timing.
Rare variant connective tissue disorder person here!
ayo that’s my friend madi ❗️❗️
hey kaitlyn what’s up girl!!!!
Hahhahahahah
Me with a COL4A1 Mutation 🙋
What symptoms do you have?
Dchs1 genetic
Can u help
My daughter has eds
We have the same dchs1
Me and my daughter have the same gene
I have photos of sensitivity superbad
Do you know that you're a hero?
thanks for letting me do this video with you izzy!!! & for giving me the opportunity to spread awareness for my disorder
Thank you so much for sharing your story and honestly just being amazing ❤️❤️❤️❤️