Thursday, September 27, 2012

Genetic Testing

I have a big decision to make.

There is a 50% chance that my mom passed her Cadasil gene (a mutation in the Notch 3 gene {on the short arm of chromosome 19}) onto me.  A 50% chance that I, too, have a degenerative brain disease.  A 50% that I will be the 22nd person diagnosed with Cadasil in Colorado.


50%. Yes or No. 50% Yes or No. 50% Yes or No. 50% Yes or No. 50%

For such an abstract thinker, this simplistic, black and white thinking is daunting. And exhausting. And terrifying.

TO TEST OR NOT TO TEST.  Such a simple question with such a simple answer, which in turn, will only lead to more questions...and more answers. 

I process information as I write.  It's therapeutic for me, so my hope with this blog is to help me organize my thoughts so I can make educated and informed decisions, while having an outlet to express my fear, sadness, and hope.

Here are some of my fears (as I have processed them over the past week):

If I test, and am diagnosed with Cadasil, how will it affect my personal relationship? Will Tom see the struggles I am going through with my mom, and know that they might be in the future?  How will that even factor into us?  If I do test positive, how will it affect my ability to function emotionally? professionally?  Will I always be worried?  Am I prepared for answer, and all that will come with it?What if it is negative....will I feel guilt that my mom has it and I don't? 

For someone that struggles deeply with uncertainty, my life is a bit wobbly right now.  I guess all I can do is hug Tom, count my blessings, and be ready for whatever tomorrow brings.






2 comments:

  1. Jo,
    I wish I could tell you what I would do, but I have no idea!
    I keep praying (and putting your names in the Temple) for you guys and sending positive energy. Love you!

    Amy

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    Replies
    1. Hi Amy,

      I actually started the process. My first appt. is going to be 11/5. Thanks for all the love. Love you!

      Jo

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