Just diagnosed with Ehlers-Danlos Syndrome
Just diagnosed with Ehlers-Danlos Syndrome
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
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
Last edited by Chipmunk on Wed Oct 26, 2011 2:25 am, edited 1 time in total.
Tracy
Opinions presented by Discussion Board Moderators are personal in nature and do not, in any way, represent the opinion of the WED/RLS Foundation, and are not medical advice.
Opinions presented by Discussion Board Moderators are personal in nature and do not, in any way, represent the opinion of the WED/RLS Foundation, and are not medical advice.
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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
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
Betty
https://www.mayoclinicproceedings.org/a ... 0/fulltext
Opinions presented by Discussion Board Moderators are personal in nature and do not, in any way, represent the opinion of the RLS Foundation
https://www.mayoclinicproceedings.org/a ... 0/fulltext
Opinions presented by Discussion Board Moderators are personal in nature and do not, in any way, represent the opinion of the RLS Foundation
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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
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
Last edited by Laurachrissy on Fri Oct 28, 2011 7:06 am, edited 3 times in total.
RLS sux
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EDIT: You'll probably find this link interesting.
http://www.reumatologia-dr-bravo.cl/whe ... uspect.htm
http://www.reumatologia-dr-bravo.cl/whe ... uspect.htm
Last edited by Laurachrissy on Thu Oct 27, 2011 5:52 pm, edited 2 times in total.
RLS sux
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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
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
Last edited by Laurachrissy on Fri Oct 28, 2011 7:09 am, edited 2 times in total.
RLS sux
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Re: Just diagnosed with Ehlers-Danlos Syndrome
Chipmunk wrote:.
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)
Last edited by Laurachrissy on Wed Dec 07, 2011 10:53 am, edited 3 times in total.
RLS sux
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Wish I had some input...but other than knowing that it exists, I'm afraid I can't help at all!
Ann - Take what you need, leave the rest
Managing Your RLS
Opinions presented by Discussion Board Moderators are personal in nature and do not, in any way, represent the opinion of the RLS Foundation, and are not medical advice.
Managing Your RLS
Opinions presented by Discussion Board Moderators are personal in nature and do not, in any way, represent the opinion of the RLS Foundation, and are not medical advice.
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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?
Last edited by Laurachrissy on Wed Dec 07, 2011 11:05 am, edited 1 time in total.
RLS sux
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.
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.
Tracy
Opinions presented by Discussion Board Moderators are personal in nature and do not, in any way, represent the opinion of the WED/RLS Foundation, and are not medical advice.
Opinions presented by Discussion Board Moderators are personal in nature and do not, in any way, represent the opinion of the WED/RLS Foundation, and are not medical advice.