a rare genetic disease

Discussion in 'The Chatter Box' started by Julie, Feb 11, 2009.

  1. Julie

    Julie New Member

    Oct 5, 2007
    Southern PA
    I just got a phone call from my mother who was in Pittsburgh PA yesterday with my grandmother. They went there for some tests because my grandmother has been having some health issues. Anyway, long story short - I have just found out (due to the many tests, etc. done on my grandmother and then additional blood tests done on my mother and aunts) that my family has a very rare genetic disease. It's not like a contageous disease or anything ... but it's genetic, so we all more than likely have it.

    Basically in simple terms ~ we all have genetically high calcium. My grandmother recently had surgery done on her thyroid for the high calcium. And still has the issue. So she had to go to a specialist (an endrochnologist), who is the Doctor that discovered the rare genetic disease. It won't affect us in any way. He said God just gave us high calcium. He said it should not affect us in any negative way. And it's extremely rare. So rare that he is excited and wants all us kids to get our bloodword done as well and he wants a family picture of all of use to use and talk about in his seminars and studies. HE said this disease is so rare that he needs to go "back to the books" and needs to do studies on this now. And he deal with thyroid, glands, etc.(the high calcium disease pertains to the thyroid). every day. It's his job. So this is really a rare thing (he called us an exotic family ... lol)

    Anyway, I just found this all out, and thought I'd share it with you all ... it just is such an unusual thing, I had to tell someone. lol. And it's not a bad disease, nor something to "brag" about ... lol ... but it's so rare.

    They confirmed the high calcium in my grandmothers blood tests, my mother's blood test and my aunt's blood test. Now they want all the kids and grandkids and greatgrandkids (my daughter) to get blood tests done as well. Basically - we should all have it. We need to have it on our record for future reference ... the surgery my grandmother had done prior to learning this did her no good. Had they known about this genetic disease, then they would've known that the surgery wouldn't do anything. So us getting our bloodword done and put on our records will prevent us from having to go through unneccessary surgeries and issues.
  2. StaceyRosado

    StaceyRosado Administrator Staff Member Supporting Member

    Oct 4, 2007
    thats kind of cool too - maybe your family will end up on teh front of some medical magazine :wink:

  3. Epona142

    Epona142 The farm that Hope began

    May 25, 2008
    Madisonville, TX
    That's really fascinating. Keep us updated! :hug: