A Journey to Genetic Testing – Part 2

A Journey to Genetic Testing

On an early morning, with sleep in my eyes and coffee in hand, I answered the phone prepared for an hour-long conversation with a genetic counselor.  What followed was a pleasant conversation with a woman who was genuinely interested in ALSP, my family’s history, and the path that led me to this conversation.  We covered topics ranging from my genetic risk for carrying the CSF1R mutation, which is 50/50, financial implications of testing positive, potential emotional consequences for receiving either a positive or negative test result, to how I am mentally and emotionally processing this reality.  

By far, though, the most thought provoking question she asked me was, “If you test positive, how will that change how you live?  Conversely, if you test negative, how will that change how you live?”  I know that regardless of my test results I will struggle.  I know I will have to fight negative attitudes, emotions, and thoughts.  If I am positive I may experience fear, perhaps anger, resentment, hopelessness, and sadness.  If I am negative I will be relieved, but I may also feel guilt for not carrying what others, even maybe those in my own family, carry.  

But my true answer to the question “how will this change your life?” is simple.  Whether I am positive or negative, I won’t let it change how I live my life.  I will continue to live my life just as I am now – in faith, hope and love, knowing my life is meaningful and valuable.  If I am positive or if I am negative I am still a Christian, a wife, a homeschool mom, a swimming and lifeguard instructor, an advocate for the ALSP community, a neighbor, a friend, a family member, and so many other vocations.  I am me; I am not my test results.  I will continue to live in faith, hope, and love, serving my neighbors as often as I have opportunity, and always looking to do good in our world.

This is who I am and who I want to continue to be.  In part I am this way because of the beautiful women who have gone before me.  My grandma, my aunt, and my mom, all who suffered ALSP, lived their lives this way – in faith, hope, and love.  Even in the midst of their illnesses, they never lost sight of who they were – always smiling, always looking for the good in their situation, always eager to show love, and always living with patience and graciousness.  I am grateful for their example.  

My test will be arriving in one week.  This is all becoming very real, and my anxiety is definitely ramping up.  I am taking it one day at a time and leaning on my family and friends for encouragement and love.

1 week later…as promised the test arrived promptly – one week to the day after my genetic counseling session.  I was sitting on the couch, reading a book, and trying to relax for a few minutes before heading back to work.  My husband walked in carrying a large envelope and I knew.  My heart picked up speed, and I asked, “Is that it?”  “Yes,” he replied.  

I put the book down, took the package, and went to my room.  I wasn’t sure exactly how I was going to react in that moment.  But it was fairly anti-climatic.  I stepped away from other distractions, took a deep breath, and opened up the box.  There it was – an unassuming tube with a q-tip topper.  In that moment so many thoughts and questions flashed through my mind.  “I am afraid of what this might reveal.”  “Have I made every possible preparation for if it comes back positive.”  “Can I handle the results?”  “Can my family handle the results?”  “Am I truly ready to find out?”  There are not easy answers to these questions, but for me, the answers are simple.  Face the fear and know that I and my family can handle whatever the outcome of this test.  

I know that my days are in the Lord’s hands.  I know He is merciful.  I know that I am surrounded by so many that love and support me and will continue to do so.  I know that I can be brave and face the unknown, knowing it will ultimately bring good for me, my family, and others.

So, I took the swab, packed up the tube, and sent it off with a hope and a prayer.  My results will be communicated in about 3 weeks.  As I wait, I will pray that I am negative and I will cling to the truth that whatever comes, I will still be me, living a meaningful and abundant life in faith, hope and love.