I was recently diagnosed after 17 years of symptoms.
What a ride!
But, with so little information out there as to causes or predisposition, I have a lot of questions still.
I am a bit obsessed with rare diseases. And DNA. So I am sad I cant find anything to study in my DNA😂
I see that some people have been diagnosed with EDS as well, raynauds, a few other things.
My first question is, is it raynauds or does anyone have cutis marmorata? Or acrocyanosis?
I am translucent, and purple everywhere. But it is Not Raynauds.
Does anyone else have skeletal abnormalities?
Polydactyly (extra digits)
Syndactyly (webbed digits)
Malformed outer ears
Pectus excavatum (indented sternum)
Bowed legs or knock knees?
Anything like that?
A Dr said i had HEDS after a genetic panel came bacj negative for EDS, but i think, for me, hEDS is a generalized easy diagnosis.
I heard of anyone with hEDS that had webbed toes 4-5-6 haha or crumpled helixes.
But that is Besides the point
I am just curious about any common co morbidities or similar genetic syndromes, predispositions that I didnt see when searching on here:)
Good that you have an ES diagnosis at least, & I hope that you get some answers for your other issues! I have Raynauds, small jaw & webbed toes, none of the others…I think my ES was caused by neck trauma though as I have an identical twin who hasn’t had ES symptoms!
Your thoughts are very interesting, @Vanillamiilfshake. We do have members that have noted a hereditary component to ES i.e. mom has it & so do one or more of her children. I don’t think we’ve had any members where dad had it & so did his children. In addition, we feel confident that surgeries in the throat/neck area such as tonsillectomies which cause internal scar tissue that can put pressure on the styloids, head/neck injuries which strain the neck & can cause the brain to think the neck needs reinforcing, & hormone imbalance (sometime due to parathyroid dysfunction) are also probable causes of ES development.
Is your skin purple even when you’re warm? I have Raynauds (fingers & toes) & perneo (toes) which are both due to poor circulation. My dad had Raynauds & my daughter has it so definitely a hereditary factor there. My fingers & toes blanch white when Raynaud’s sets in. If I put them in warm water so they can “thaw”, they turn purple like your feet, & they hurt like crazy as the blood flow resumes. My ES also came from head/neck trauma (& maybe tonsillectomy, too!).
Is there a significance to having crumpled ear helices i.e. does it reflect some sort of developmental issue or predict a genetic problem? I looked up other pics & many of them look like normal ears to me as do yours & (I presume) your baby’s.
I read a statement made by a nurse many years ago that said something to the effect of with how complex the human body is, it’s a miracle any of us develop normally. I have to agree!!
My ears have jagged edges on the inside of the helix & I also have wonky joints (hip/lower back/knee stuff currently & had joint instability/pain as a kid. I’ve had unresolved patellar tracking disorder for a couple years now too.) People in my family have been recommended they get tested for EDS so I wouldn’t be super surprised if it runs in my family or something. I’m also not officially diagnosed with ES yet-- it’s possible my issues are more caused by the C1 process or something else entirely. But maybe there’s some connection there.
I have a history of neck trauma like some other posters here. I had a weird endoscopy/biopsy experience as a kid where I woke up during the surgery, which resulted in a ton of throat pain. Also had a tonsillectomy in February of this year but I doubt that can bring on ES so quickly.
@blistle - It’s crazy how genetics can play out sometimes. I’m sorry you’ve got all those skeletal & presumably circulatory issues. EDS would just be the icing on the cake that you don’t need, but it would explain the wonky joints & possibly the patellar tracking disorder (bet that’s painful!). I’m included in the neck trauma list w/ both a major head injury at 13 from going over the handle bars on my bike (no helmets back then) & a nasty whiplash injury when I was 21. I feel fairly certain the whiplash at least was a major contributor to my having ES.
I hope you’re able to get a diagnosis re: ES one way or the other soon. A CT will also show your C-1 & if you get a CT w/ contrast, it will show the relationship of the styloid & C-1 to your jugular vein which can be very helpful. If you do get a CT w/ contrast, please request that your referring doctor specify the CT should be done in several head positions including the one that makes your symptoms worse (if you’ve noticed a specific head position or positions that do that).