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Ehlers Danlos and Epydermilosis Bulosis

I was born in 1958. I had two rare diseases Ehlers Danlos and Epydermilosis Bulosis but neither were severe.It took until 2004 to see a Geniticist before they were both confirmed. My Dad passed the gene for Epydermilosis Bulosis. I got cuts and bruises and a ton of blisters all my life and my Mom always told me it was just thin skin like my Dad's. When I read about Ehlers Danlos in my 30's I knew I had it but it wasn't confirmed until 2004. I spoke to too many Doctors over the years but finally got referred to a Geniticist in 2004. Over time I had 5 surgeries on my right knee. Now my left is doing the same thing. I had a Vitral hernia= surgery, 2 rt shoulder surgeries for either a tendon or ligament.two for a dropped parathyroid and a wrist that broke in 7 places due to a fall from a subluxation of my rt knee.....at least I knew why when the wrist broke in 2007...

  1. Hi,
    Thank you for sharing about your journey with both Ehlers Danlos and Epydermilosis Bulosis . Sounds like a pretty intense journey.

    I'm very glad that you were able to get referred to a geneticist around age 46, to be able to learn what had been at the root of your symptoms all along. I know from personal experiences, also, that finally having a diagnosis can at least ease some deep worries, even if treatments cannot stop disease fallout, or progression.


    Thank you for being here in our community to share your experiences and feelings with others with these same rare diseases.

    Blessings,

    Gina Miller,
    RareDisease.net Team Member

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