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Ehlers-Danlos Syndrome User Group
Daughters Diagnosis
About This Group:

This group is for members with any form of Ehlers-Danlos Syndrome.We have this group to share info and support for each other. Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility and tissue fragility. Individuals with EDS have a defect in their connective tissue. It is this tissue that provides support to many body parts such as the skin, muscles, ligaments and organs. The fragile skin and unstable joints found in EDS are due to faulty collagen. Collagen is a protein that acts like glue in the body adding strength and elasticity to connective tissue.

Founded by somemonkey on September 22, 2009
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Daughters Diagnosis

I am posting on here so that my information may be of help to others.  My DD 14 years old was recently diagnosed with EDS type 3.  I have EDS and was diagnosed by my NS when I was being seen for pending chiari surgery.  He diagnosed me by the beighton scale and my rheumatologist saw no reason to see a geneticist since we had ruled out vascular and they only treat symptoms anyways.  I knew at time of diagnosis that my children have EDS as well as they both would pass the beighton scale criteria.  I talked with the pediatrician and I found no reason to have them diagnosed unless intervention was needed.  Well for my 14 year old playing soccer had gotten to where she had neck pain so bad she would be on the couch crying.  Then I started thinking her episodes of basil reaction and migraines could be pots that was misdiagnosed.  So off to her pediatrician and after a very long discussion and her researching on her medical reference she came back in and asked me why I thought EDS.  So I had my daughter show her tricks.  She said oh my goodness you are right and had a horrible look on her face.  I said I know...so she referred us to children's hospital hearing, rheumatology who sent us to spine orthopedic dr, cardiology, and geneticist.  I am now comfortable with my rhum not sending me to geneticist because with checking my daughter and I out and looking at our medical histories the geneticist diagnosed my daughter with EDS 3 and there is not "testing" for that.  I was leaning that direction in my mind for me as well and that was confirmed by her geneticist.  There was not a huge ah ha moment yet it was nice to talk to someone who knew as much and more than I did about EDS.  I have a huge story to tell about my vision journey but I need a typing brake:) More to come tonight....love ya bendies!
2 Comments
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620923_tn?1393294254

  HI Mel....

Wow u have found out so much....I thought they felt u had vascular EDS?

Glad that u do not, as that is not something u would want, not that u want EDS to begin with....

SO all this hubbub about going to a geneticist is bunk? I am so shocked as the Drs here all say that is where u go once u get a dx....hmmm wonder y they do that...$$$$$ is all I can think of...sigh
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1903798_tn?1333908888
I thought I had some vascular symptoms in the beginning. I had horrible varicose veins and some other traits.  You had said you doubted it was vascular since I had kids without complications.  They did extra testing on me before surgery.  Like an mrv of head to see if I had any aneurisms.  They checked my heart really thoroughly etc.  So as you know we can have traits of other types of EDS and not have that type so thank God it looks like no vascular EDS in my line:) Yeah I won't be pushing to go to the geneticist for me after seeing Rys.  She was very good and very nice but could tell by asking questions and looking at the 2 of us that we had type 3. She was very thorough and even looked at whole body skin. She would say ok based on your scars this...or based on no skin tears this...based on bruising (or lack of) this...  She was great but knew that the further testing would not help with type 3 and would only cause additional pain.  She is partnering with her pediatrician for future treatment so that is beneficial:)
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