Genetic Testing = Biopsy Results

I had a friend recently go through a cancer "scare", and thankfully everything turned-out negative, he just heard the news today.  It got me thinking of how similar, but yet different, genetic testing is to getting a biopsy done.

With both, you have only two results:  positive and negative.  Both are definitive and conclusive.  They also are similar because in cancer cases, you may be told to keep an eye on things and get the test repeated in a couple of years, which is somewhat similar to genetic testing in the sense that it will always be there.  You may hear the results of the biopsy as negative, and think the scare is over.  Done.  But that usually isn't the case.  If something looks like a duck and quacks like a duck, it's usually a duck.  We all know too many stories of friends and family who have had cancer touch them.  But we don't know too many that are going through genetic testing.

Genetic testing completely differs from getting a biopsy done in the period after the test results have been received.  And I first must say that I can only offer insights and experiences for the genetic condition that I have.  As we know, every disease has different pathways and protocols.  In the case of CADASIL, there are no treatments or cures.  Your genetic condition could be entirely different.

I remember feeling when I was going through the testing process back in 2007 that it would be easier to get diagnosed with cancer because there would be treatments and support groups and all kinds of vitamins, etc.  In other words, I felt like there were lots of options.  But I know my friend who was diagnosed with a Stage 4 Glioblastoma brain tumor didn't feel that way.  There were tons of research trials for that condition and when she went to a doctor, they knew of it.  But my genetic condition didn't have a single on-going research trial to speak of and I've seen countless doctors that have never even heard of the condition I have.  Which would I rather have?  She passed away 11 months after diagnosis.  I went to the YMCA tonight and ran 2 miles.

I was warned before I went through genetic testing about the fact that there was nothing I could do if I was positive.  And while I understand they were only trying to help and it is a factual statement, because of the lack of clinical trials on CADASIL or any meaningful treatment; I beg to differ.

When my friend received his results today, I asked his wife, "if the results were positive, would you two do anything differently tomorrow?"  Because I know this couple is full-of-life and live with exuberance and deep love for one another, I thought she'd say "no".  And she did.  But I know my life took a different path when I received my genetic results that were positive, but for the better.  I still have the same job (obviously jobs and titles change through the years, but I'm still doing the basic occupation), still married to the same wonderful man, and my boys are still the greatest part of my life.  So while I think things are dramatically different, they're still the same.  And I wouldn't have it any other way!!

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Do You Ever Hear Your Life Whispering to You?

Do You Ever Hear Your Life Whispering to You?


This week, while reading an internal memo posted from my employer, I felt a whisper.  It was odd, because usually you hear a whisper.  But this was a feeling, as if I should be doing something about this.  I contemplated over what was the best thing to do about it, but I had some significant fears and anxieties in doing so.  Ultimately, I overcame them and great things are coming as a result!


The "I Don't Buy Green Bananas Anymore" philosophy was in my mind when I was deliberating over what to do.  I felt a whisper and I just knew in my heart that I had to act upon it.  The "philosophy" of this blog is-why wait?  Why should I wait, worry, wait some more, worry some more?  I felt compelled to do something and I did it and I am so glad I did.


But it's not to say that I made careless and impulsive decisions.  Quite the opposite.  My decisions were strategic and calculated.  While I perceived it as a risk, it was a calculated risk which I made with confidence.


When I went through genetic testing, I can say the same thing about the same process.  While the genetic testing was the most anxious and fearful time in my life, it was those decisions and actions that are allowing me to continually overcome my fears and anxieties today.   I used the same process this week as I did when I was getting tested.  Getting through that time period in my life has allowed me to say that I realize the whispers that I feel in my life are taking me on a journey, not a destination. I am winning, but have not won.  There are victories, but no conclusion.


What I mean by that is that life is constantly throwing whispers to us. There was a time in my life where my fear and anxiety was so high, that now I wonder how many whispers I missed because I was too preoccupied to feel them?   I feel these whispers are my connection to God.  But whatever your  faith or belief, I believe these whispers are from God.  What is he trying to say to you?  Sometimes I just wish he would SPEAK UP!!

A genetic "gift" before turning 30

Before I was thirty years old, I had received news of a genetic condition that affected my father for many years.  As a teenager, I watched him progressively age very rapidly.  After suffering so many strokes, he could no longer walk or talk by the age of 51 and eventually succumbed to the disease at the age of 55.

When I learned that I had a 50/50 chance of also having the exact same genetic mutation, I was devastated!  An emotional wreck!  I had two small children and my husband and I decided the best thing for our family at the time was for him to be a Stay-At-Home-Dad.  I was enjoying a successful career in Sales and had to keep everything together because I had no other choice.  My brother and sister each also had the same 50/50 chance, as well as my own two children.

I began an obsessive quest of researching everything I could about the disease that took my Dad over 11 years to end up with the correct diagnosis, because it is so rare.  The internet became my worst enemy and life travelling on the road unbearable; nothing but myself and my worst thoughts to keep me company.  I made some knee-jerk decisions, out of necessity.  But now, five years later I can take great comfort in the fact that none of those decisions were accidental.

Now, I am living a life more full and passionately than at any other point.  I have had my health challenges since then, but thankfully am graced with the wisdom to know what to do about it and pray for the patience in the challenges that remain mysterious.  My life is full as a busy, full-time working wife and mother.  But for some reason I have a deep need and calling to begin a discussion for any others who may have also experienced a similar situation.

If you have just discovered a genetic illness in your family, hold on!  Life will continue and you will get the answers that you desire.  In time, you will know what to do and you can overcome!  My journey (thus far) has taught me don't WAIT...to live for today, have FUN, laugh, follow your passions...and that is why I don't buy green bananas anymore!