Wednesday, 13 January 2010

we beat the genetic lottery!

those of you who have read my blog for a long time know that i have a genetic disease called charcot-marie-tooth syndrome.

it's an annoying kind of a thing to have and while i love life as it is (and as i am) i didnt relish the idea of passing it on.

the kids are no longer tiny at 11, 13 and almost 15 and i have avoided the issue for long enough. today was the day to face this thing, to face a possible issue for my childrens' futures.

the professor asked who i was concerned about and i pinpointed the most likely candidate. initial tests were good, further tests were good and my boy was declared healthy, final tests confirmed the tentative diagnosis.

in my mind the other three were there as a formality. no sufferer of CMT could be an athlete as they are.

the doc tested one: clear.
the second: normal.
at the last he realised he had a set of twins in his office and his researcher's interest was further aroused, he took a photo and went on with his standard procedures.....

he shook his and declared us the luckiest family he had ever seen.

blessed, i say.

each of my children carry a 50/50 chance of inheriting my disability.
not one of them did.
we got the one in a 1/16 bet.

praise God from whom all blessings flow !

ps. i should say there are DNA tests in the pipeline as a final check but the doc is totally confident


  1. Well done you. How very lucky. You must have been worrying about that for quite a while. You certainly have a guardian angel somewhere out there!

  2. nick,
    i wasnt worrying but i knew i would worry if there was a positive.
    i can hardly believe it

  3. PRAISE THE LORD!!!! I just slipped up here after an extended time of prayer and overwhelming reminders that God is SO BIG in my life . . . then I read this -- WOW!!! I just love amazing, wonderful, JOY-filled news.

    I sing songs of JOY right alongside you, sweet sister. Fabulous news!


  4. Mum was just telling me this news Kyles. Fantastic!!

  5. As Debbie in CA said "Praise the Lord" because the genetic lottery was won!

    In these sorts of physical areas does it get better than this?

    Don't think so.

    If Na says fantastic it must be.

  6. Cool, nothing like knowing your kids are safe from what we have/

  7. walking man,
    "safe from what we have"?

    is this a general statement or does it refer to cmt?

  8. Well, I'll be damned, I thought you were making up a new disease, so I googled that sucker fully expecting to come up with NOTHING.

    Do you have ambulatory problems, respiratory problems? If you don't want to go back over ground you've already covered, maybe you could tell me when you last discussed the problem in detail.

    I'm so happy for your kids.

  9. snow,
    i doubt i have ever discussed it in detail.
    i'm stoked about the kids, thrilled beyond belief!

    i dont have respiratory trouble,though it could possibly be in the pipeline, mum has developed a cough which might be a cmt thing and if she has i might....

    i was never really good on my feet, fell more than a normal kid, couldnt really do sport, definitely couldnt catch.

    i have declined by degrees over the years. i was unable to run at all by the time i hit about 25. i have some trouble with balance and co-ordination. the best way to describe it is that i have considerable difficulty walking on anything but a firm flat surface. soft grass, the beach, bushwalking, even a very thick carpet all take a lot of concentration and become tiring.

    my choice of footwear is critical as well. i need it to be as light as possible and basically flat but with a tiny wee bit of lift at the heel. any deviation from this will cripple me further. it is a disappointment to a girl who loves fashion..........cest la vie

    i'm not sure what you want to know but ask away


  10. That's interesting what you say about balance and coordination. That must create a lot of everyday problems other people like myself are blissfully ignorant of. Good for you handling it so matter-of-factly.

  11. Hi Kylie,

    Blessed indeed! What great news :-)

    Best wishes,



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