Mackenzie

From the time I was born, I’ve participated in numerous events supporting Huntington’s Disease.  I’ve attended conferences, the annual HD Indy Go-kart Challenge, many HD Youth Organization camps, and have raised money to help fight HD.  I’ve been part of a youth mentorship program both as a mentee and as a trained mentor, and am currently the Youth Engagement Coordinator as part of the YPAHD executive team.  I’ve learned lots about Huntington’s, including the importance of genetic testing when a family member has HD.  The reason for my involvement is that my grandfather, my aunt and my mother all had or have the disease.  I was just 9 years old when I learned that my mother has Huntington’s Disease, and even at that young age, my world was flipped upside down.

Huntington’s Disease is a hereditary neurological disease.  It is often described as what you get when you take ALS (Lou Gehrig’s Disease), Parkinson’s and Alzheimer’s and mash them all together.  Symptoms and progression vary—not everyone has the same symptoms or starts their disease progression at the same age.  Every child of a parent who is gene positive with Huntington’s Disease has a 50% chance of having a positive HD gene mutation, and there is currently no cure or successful treatment to slow the progression of HD.

I’m now 19 years old, but knew since I was 15 that I wanted to have predictive genetic testing when I turned 18.  Predictive testing tells you if you carry the HD gene necessary to develop the disease, but not if and when you will develop symptoms of HD.  Where I live in Canada, to start the process you go to your general practitioner, who refers you to a genetic counselor.  The counselor meets with you, sometimes more than once, to evaluate if you are mentally in a good place for your results.  Once approved by the genetic counselor, your blood is drawn and then a waiting game ensues for a month or two.

A couple of weeks after my 18^th birthday, I met with my general practitioner and received my referral for genetic testing.  While I was excited, I was also tremendously nervous.  What was I thinking—testing during my senior year of high school?  Most people my age worry about choosing a college and what they want to study—but all I could think about was my genetic testing.  One of my teachers noticed my lack of focus and saw that something was taking a real toll on me.  He pulled me aside and offered to help.  With his help, I connected with the school social worker and began meeting with her.  Although she had no experience with Huntington’s, she focused on what she knew and could help with—and that was my school life.  She informed my principal and my teachers what I was going through, and they helped me manage things.  In the spring of my senior year, I finally met with my genetic counselor.  Because I was so informed on Huntington’s and knew what I wanted, I was only in the meeting for 30 minutes.  My counselor told me I was the easiest testing referral she had ever made, and I had my blood drawn the same day.

One week after my high school graduation, my girlfriend and my father went with me to get my results—a day I had been waiting for for 3 years.  Growing up, I always felt I had Huntington’s Disease.  Every time I couldn’t remember a word or had a twitch, I would think “this is HD, this is part of me forever.”  That day, I felt like it was the day I would find out what I already knew, and my anxiety level was crazy.  I was so anxious that by the time we reached our destination, I was nauseous and sick to my stomach.  My life was about to change forever—regardless of the results.  When we were seated in the genetic counselor’s office, my leg was bouncing with anxiety.  The room was quiet and I could feel the hairs on my arms standing.  As I sat holding my girlfriend’s hand, I could feel the sweat on my palms.  Then my genetic counselor said, “Okay Mackenzie, your results have come back and you have tested negative for the Huntington’s Disease gene.”