Friday, February 6, 2015

The Answer We Never Wanted to Hear

By far the past 2 weeks have been the most stressful and emotional in my life. 

After many YEARS of watching my sister's health decline, we finally have an answer.  We have a diagnosis.  

Nothing would have prepared my family and I for the diagnosis.  

Chorea-acanthocytosis.  Chorea whatahhh?  My thoughts exactly.  2 weeks ago we got the tentative diagnosis and of course I went to the internet immediately for answers.  The answers hit me like a kick in the shin (always a soccer girl at heart).  As I quickly read the articles I pick up on key phrases that made my heart ache.  And they still do.  "No treatment". "No cure".   

To say that I've been emotional is probably the biggest understatement of the year (and it's only February).  How is this happening to my sister? To my family?  There are around 500 cases of this IN THE WORLD.  There are roughly 7,200,000,000 people in the world.  500 of them have this rare genetic disease.  I still can't wrap my head around that. 

For the past  2 weeks I've been selfishly wondering if I would inherit this disease.  After all my odds of getting this is the exact same as my sisters, 1 in 4.  I spent the last 2 weeks scared to death.  I have never felt so much anxiety.  And at the same time I felt shame.  How could I be thinking about myself right now?  I guess it was fear.  

Yesterday my mom had a phone call with a doctor that specializes in Chorea-acanthocytosis.  She confirmed the diagnosis over the phone.  I had talked myself out of believing this is what it was for the last 2 weeks and now I have to accept it.  I have never felt sadness like this before.  Sometimes it doesn't seem real.  

My mom asked the doctor about other members of the family since this is a genetic disease.  The doctor assured my mom that if I am perfectly healthy right now that there is nothing for me to worry about.  And Jayden will be fine as well. I feel a small sliver of relief.  But that is immediately smothered with the shock of the confirmed diagnosis.

Right now it's an internal battle.  I am overwhelmed with sadness and at the same time I'm telling myself to keep it together and enjoy the time we have with Heidi.  

Last saturday was my dad's 60th birthday.  Happy Birthday Vinny (you old man hehe)!  The entire family went to the WVU vs. Texas Tech basketball game in Morgantown.  We all had a great time.  Kevin and Nate took some great pictures of the family.  This is one of my favorites:

I'm sad. I'm mad. I'm confused. 
I'm a mess inside.  
But we will carry on as we always do and live in the moment.  What we have right now is the present.  The future is uncertain.  

For now I'll continue to ramble on to whomever wants to read my blogs.  You are my therapy.  
(You can bill me later). ;)


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