Just diagnosed with Ehlers-Danlos Syndrome

[Chipmunk]

I went to see a geneticist yesterday and he diagnosed me with Ehlers-Danlos Syndrome, which is a defect in how my body manufactures collagen. Here is the wikipedia page for it: http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome

He said I have either Type 2 or 3 - I will have the genetic test to see but he said they have not isolated all the genes so I could test negative (50% of people do) but have it nonetheless. That would just mean that you could not test your kids to see if they would develop it.

I don't know if there is an increased prevalence of WED in people with Ehlers-Danlos, or if I'm just lucky. Ehlers-Danlos is fairly rare, so there's probably not anything out there which intersects the two worlds. I do wonder what the defective collagen process uses more or less of than normal - iron or Vit D, perhaps?

Not sure what responses I am looking for here, just had to post it somewhere and don't want to freak all my relatives out on Facebook

[Polar Bear]

Tracy - ... rare indeed.
And the last thing you need is a new diagnosis on top of rls/wed.

How does this condition affect you, and in your general day to day life.
We are all here for each other, whether it is rls or not.

Hugs to you

[Laurachrissy]

Hey, I'm BJHS but some refer to it as type 3. I don't however but I feel your pain.

Either way I hope you get a good Rheummy and make sure (since it IS Ehlers-Danlos to find out if they decided wheater MVP is or is not assoc. with the Type 3....I believe it is with Type 2. Do get checked and take care.

EDIT:
http://www.mayoclinic.com/health/ehlers ... N=symptoms

[Laurachrissy]

EDIT: You'll probably find this link interesting.


http://www.reumatologia-dr-bravo.cl/whe ... uspect.htm

[Chipmunk]

Laurachrissy ~ what is BJHS and MVP?

[Laurachrissy]

BJHS stands for Benign Joint Hypermobility Syndrome (however some feel it is the same as EDS-3, you will see the terms JHS also)
MVP stands for Mitral Valve Prolaspe. I don't think it is related to BJHS but I think there is a prevelance in all EDS. Go to the Mayo Clinic website.
http://www.mayoclinic.com/health/ehlers ... N=symptoms

[Laurachrissy]

.

I don't know if there is an increased prevalence of WED in people with Ehlers-Danlos, or if I'm just lucky. Ehlers-Danlos is fairly rare, so there's probably not anything out there which intersects the two worlds. I do wonder what the defective collagen process uses more or less of than normal - iron or Vit D, perhaps?

Not sure what responses I am looking for here, just had to post it somewhere and don't want to freak all my relatives out on Facebook

Its the matrix of the collegen....EDIT: (thanks Ann)

[ViewsAskew]

Wish I had some input...but other than knowing that it exists, I'm afraid I can't help at all!

[Laurachrissy]

Hey, I was just checking in on you. How are you feeling? Do you do Pilates by any chance? Edit: did I already send you some youtube links?

[Chipmunk]

Yes, I used to do Pilates a lot before I had my kids and recently started back. I have to be careful because if I strengthen one group of muscles and not the opposing ones then it pulls everything out of alignment, but I'm working with the physical therapist to work on not favoring one side or the other.

I really am not as bad off as others--my main issues are keeping my bones where they are supposed to be, easy bruising, interstitial cystitis, and abnormal scarring. I quite honestly do not know what to do with this diagnosis - there is no treatment and I still have the same issues. I guess I'm still digesting it.