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Thread: Wanted to Introduce Myself

  1. #1

    Red face Wanted to Introduce Myself

    Hello Group,

    I just found this website via google and read a few posts. I thought it would be a good idea to introduce myself and share the beginning of my story. It's a heluva ride!

    My name is Josh and my wife's name is Mary. My wife and I were married 4 years ago. I have a genetic disablity called Osteogenesis Imperfecta and I am in a wheelchair. I have a much more severe type of this disability so my wife and I weren't sure if we would be able to have kids. I mean, I can have children, but with the risks of pain and even death for the child, it wouldn't be worth it. Since my disability can be passed on, 50 / 50 chance, we looked into the PGD option. Unfortunately, it is very VERY expensive (30k?)

    Well, my wife, once again not taking no for an answer, came on to a study for OI where they do many tests. It involves genetics, dexa scans, and pulmonary testing. I figured what the heck, if I can maybe give info to help out, great. Why not... Not only that, I can find out a bit about how screwed up I am. lol.

    It seems there was an unexpected side-effect. They ran my genetics test and could not find the dominant OI gene. Me, being the brain scientist that I am... "Uh... huh?" Well, she roughly stated back to me, all in one single breath, "Well, we cannot find the dominant gene for your OI. We are thinking you are recessive so having kids shouldn't be a problem. They should be fine." In one single breath my life COMPLETELY changed. "Wait... What?!" "Yeah, if you are recessive you won't pass on the OI, as long as your wife isn't a carrier."

    .........

    REALLY?!? Wait... Huh? What? I never knew that was EVER an option WHAT-SO-EVER. She continued to explain to me that being recessive is EXTREMELY rare and it probably isn't the case, but they will continue to look. I called my wife immediately and told her to sit down. (She was at work.) She, obviously busy, didn't take me seriously. I said Hunny, sit down. Really. Then I told her. She was as shocked as I was. It took her a very long time to believe it.

    They needed more than just my blood sample to do the extended tests. They had to do a skin biopsy. (Not for the faint of heart.) They took a syringe needle and pierced my skin, in one side, out the other, about 1\8" long or so. The Dr. then pulled up the needle and... cut... with scissors, the section off. Yeah, no numbing agent (it can screw up the biopsy)... Cutting. Skin. Off. Didn't really hurt. Well, much. Just felt REALLY weird. If I ever have children, I don't EVER want to hear that we never wanted them... HA!

    After weeks and weeks of waiting, they tested all the recessive genes. I believe there are 6. ...They didn't find it. WHAT? Trust me, I do have OI. I swear I do. My broken bones my entire life can confirm that. There are a few more tests they are going to try.

    Week after excruciating week go by, Mary and I anxiously waiting by the phone........

    ...Finally. They found it! I have Bruck's Syndrome. A version of OI that is so completely rare that they know of 250 cases in the WORLD. It is so extremely rare even for the extremely rare recessive types. Out of the people who have OI, 95 percent are dominant, the other 5 are recessive. Out of those 5 percent recessive, only 5 percent of those have Bruck's. Whew... Lottery winner!!! Best part... it IS recessive. I CAN have kids!!! (As long as Mary is not a carrier... ug. Chances are low, 1 in 300)

    So that is where we are at. A lifetime of not thinking I can have my own children to hey, no prob, have children! Maybe this is a reward for all the hell of being in a chair, dealing with the pain of thousands (no exaggeration) of broken bones? If I had a less severe form of OI, it pretty much would be likely that it would be dominant. It's amazing what tests your sense of existence in the world... heh.

    So I will be around, posting updates and eventually hopefully posting baby pictures. I have lots of questions since I am in a wheelchair so I am going to need lots of help from you guys. (Accessible crib, carrying the child, etc.)

    So welcome to my roller coaster!!! I will be in touch!

    Thanks,

    Josh

  2. #2
    And btw, I understand this is a SCI forum but knowledge is knowledge eh? : )

  3. #3
    Welcome Spiffy. You sound like someone who will make a great dad.

  4. #4
    Hi Josh,
    Your excitement and enthusiasm is contagious. I'm looking forward to hearing the rest of the story and eventually seeing the baby pictures. Welcome to Care Cure Community. Hope you find the help here you are looking for.

    All the best to you and Mary,
    GJ and NL

    PS...maybe you should buy a lottery ticket!!! ;-)

  5. #5
    congratulations!!!!!
    mitochondrial disease complex 1 deficiency, suspected HSP
    type 3 ehlers danlos syndrome w/ type 1 overlap, g and j tubes
    aspergers & friends
    survivor of 2 TIA strokes

  6. #6
    Best wishes and welcome to the forum!

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