Seeing A Geneticist Next Week

[erickamcc0523]

I don't have 100% of the symptoms of EDS (my skin is pretty stretchy, but not as much as I've seen in photos), but there are so many other symptoms that I do have, including a 9/9 of the Beighton score and the ability to bring my arms from my front to my back and to the front again while holding my hands the whole time (think human jump rope). But, I guess the years of being sick, but being told that I was on WebMD too much or that it all was in my head is getting to me right now, and I'm half-way tempted to call and cancel the appointment.... but on the other hand, I want to know, because I know some sub-types of EDS can be suddenly fatal, much like Marfan's syndrome. Also, while it may be unlikely that I'll have children, if I should some day, I would want to know in case I could pass it on.

Ugh... My emotions right now are on the same rollercoaster that POTS has me on! I hope Feb 4th will be here soon!!!!!

[iheartcats]

I'm supposed to see a specialist in genetics for EDS, too! I have to get it approved.

Do you know what happens during an appointment? I used to be really flexible...but not so much now. I mean I can easily touch my toes and floor and all that with no exercise at all in a couple years. But my skin is stretchy, the POTS doctor thinks.

I'd say you SHOULD go because you are SO FLEXIBLE. It's worth it in your case. Mine? I'm still torn.

Let us know what you find out!

[iheartcats]

And EDS is in animals, too. I had no idea.

I wish I could have him: http://www.thelanaproject.com/adoptable-pe...s-syndrome.html

It would be good to know if you had EDS so it can be treated. So go!

[babettess]

I was diagnosed with EDS by a geneticist. It was a very easy appointment. I gave my medical history and made sure to mention everything that I knew I had that could be caused by EDS. (Example- high palate, extremely fast deliveries of my children, C-Section scar that is not pretty) Then the dr. asked if I could do any "tricks" and I showed her what I could do. She felt some of my joints and looked at my skin and said, "Yep. You have EDS."

I wanted to know for sure so I could do everything I could to feel better. For example, I wanted to learn how to protect my joints so I don't cause injury to them.

For me, this appointment was one of the easiest and well worth going to. I found out at the appointment that one of my daughters has EDS too, one doesn't and the third could possibly have it. It was definately worth going to just for that information.

Hope you both have good appointments! Let us know how they go!

Babette

[icesktr189]

im seeing one too, hopefully in a couple weeks. if it comes back that i do have EDS, does that mean its what caused me to have POTS?

[delphicdragon]

Worth it to get tested. It's an explanation at least. For me, my EDS causes my POTS. At least this way I know (95% sure) that the POTS won't be progressive. That's a relief for me. Also, I wanted to learn how to protect my joints so I don't do more damage. My hips and knees are pretty messed up and it's moving to my elbows and wrists.... This diagnosis also explained why I was always getting hurt in school (I have no proprioreception (sp?) basically I don't know where my limbs are in space - very typical of EDS). My skin isn't overly stretchy either, but it isn't normal, that's for sure. And though my scars aren't too bad (they are small, and leaving the stitches in 2X as long helps) they are very strange... (look up cigarette paper scarring)

The appt should be easy, I had to show that I too am a 9/9 on the Beighton scale. Though you can get a diagnosis of 4/9 and still be classified as having EDS, esp if you are older, or arthritis has set in. I also need to get echos of my heart/aorta because of the EDS diagnosis, but these are also painless (just cold gel).

Sara

[icesktr189]

oh so if it is EDS is not progressive? but at the same time would that mean that POTS probably wont go away either?

oh yeah i get the echo every year just in case

[miranda]

I was interested reading this , I have very flexy joints and my hands can bend backwards, I can bend the ends of my fingers and push my thumb down against my wrists. My ankles dont sit well and flop inwards when resting. I can put both feet around my neck easily. My mother and grandmother are the same and my daughter has bendy arms that go back wards. So could this be what I have ?

[iheartcats]

I was interested reading this , I have very flexy joints and my hands can bend backwards, I can bend the ends of my fingers and push my thumb down against my wrists. My ankles dont sit well and flop inwards when resting. I can put both feet around my neck easily. My mother and grandmother are the same and my daughter has bendy arms that go back wards. So could this be what I have ?

I would definitely see someone about it. I think you have enough symptoms to warrant a doctor visit about EDS!

[erickamcc0523]

Mirry, I can relate to the weak and unstable ankles! Sometimes they'll sublux (somewhat dislocate, but not completely) just enough to cause severe pain, enough to where I can't really walk for at least 5 minutes. Sometimes it feels like it stays out of place for awhile and I have to move my foot around to try to coax it back into place. I haven't had to go to the hospital yet to get help with relocating the joint. Also, I have twisted my ankle just by standing, because it's almost like it buckles and the angle it does it puts alot of strain on my already bad knees.

You should, too, get checked out for EDS, as some forms can be potentially life-threatening... I don't mean to scare you, but if you're found to have that specific sub-type, then you could at least be proactive and have regular testing done to ensure your health. A previous poster in this thread said that they have a yearly echocardiogram (basically an ultrasound of the heart and other blood vessels around the heart) to ensure their aorta is doing well. Plus, you might be able to get some advise on how to improve the quality of your life and how to protect your joints (the most vulnerable parts of your body if you do indeed have EDS).

Just a question for other EDS patients... do you have random and unexplained bruising? I do at times, especially in my thighs and calfs. I think that it's a blood vessel that bursts randomly, and I don't remember any injury that would cause the bruise. In fact, sometimes the day before the bruise develops, in the same spot, it will be very hot feeling and it itches like crazy, and scratching makes the itching much worse. Then, the next day, I'll have a hideous bruise in the same place as the burning and itching sensation. It's very firm to the touch, like a hemotoma, which is why I suspect a blood vessel has burst.

[anna]

Just a question for other EDS patients... do you have random and unexplained bruising? I do at times, especially in my thighs and calfs. I think that it's a blood vessel that bursts randomly, and I don't remember any injury that would cause the bruise. In fact, sometimes the day before the bruise develops, in the same spot, it will be very hot feeling and it itches like crazy, and scratching makes the itching much worse. Then, the next day, I'll have a hideous bruise in the same place as the burning and itching sensation. It's very firm to the touch, like a hemotoma, which is why I suspect a blood vessel has burst.

Hello Ericka,

Myself and my kids are diagnosed Classical EDS, we all get spontaneous bruising, I tend to have some bruises that come up in the same place over a number of years. The way you describe the bruise forming with a burning itchy feeling is what I get too! My GP suggested high dose vit C, be warned that buffered vit C. is better than non buffered sort as vit c can play havoc on your guts, I used high dose well coated vit c for a 3/4 months then got gut ulcers! Turns out my guts are a bit weak too!!

Anna

[miranda]

I dont get the bruising thing , so maybe I dont have it.

Good luck searching for answers .

[anna]

I dont get the bruising thing , so maybe I dont have it.

Not all EDS people get noticeable bruising, especially in the hypermobility form.