The Test That Predicts The Future

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Most people who are at-risk for the Huntington's Disease genetic don't go through with predictive genetic testing. It is an extremely personal decision that takes so much reflection and consideration. In this post, I am going to talk a little bit about what led to my decision to be tested and what the testing process was like.

Even from a young age, I had continuously considered whether or not I wanted to be tested for Huntington's Disease. Huntington's disease had (and continues to) wreacked havoc on so many people that I hold near and dear to my heart. I had witnessed first hand how horrific Huntington's is, mainly by seeing how it affected by mom over time.

I think by the time I was fourteen, I had known that I would want to be tested. I had spent so much time learning about Huntington's. When possible, I made it the topic of my projects in school. I used any possible opportunity I had to talk about Huntington's.

After my mom died in February 2021, there was even a bigger want for me to go through with genetic testing. In November of the same year, I finally talked to my family doctor and requested a referral for predictive genetic testing. Luckily, she already knew what forms to fill out and where to refer me to.

On March 2nd 2022, I had my first appointment with a resident, medical geneticist, and a genetic counsellor by ZOOM. I got a Huntington's Disease crash course of sorts - where most of the information I had already somewhat known. I was briefly told about what the testing process would be like - simple enough.

I called the next day to have a requisition completed for genetic testing blood work. I went to the Children's Hospital of Eastern Ontario and checked in at the out-patient lab for a blood draw. It was an interesting visit, to be honest. The tourniquet they used didn't fit and they had to tie two of them together. Also, with it being a children's hospital the chairs used in the lab were children sized - which meant I did not fit in them whatsoever (it was the first time I had to stand up to have blood drawn).

They packaged the three tubes of blood and sent them to North York General Hospital in Toronto - CHEO didn't have machines capable of running the specific test for Huntington's. I waited for a month and a half and got a call from CHEO again. Them having called meant that my results were in - the doctor would not read them until right before my next appointment. 

May 4, 2022 was my results appointment with the genetics team. Due to the COVID-19 pandemic, it was still on ZOOM. I had my aunt beside me for support. We never thought we would try so hard to read the faces of doctors. "Christian, do you still wish to know your genetic status for Huntington's Disease?"

Without any reservation, I immediately replied "Yes". I had waiting this long, what was stopping me now. We scanned all the faces on the screen to look for a reaction...but there wasn't one. The next words would change my life forever.

"Christian, the result came back positive. You will have symptoms of Huntington's Disease at some point."

The result wasn't expected, but I had someone what prepared for it. I was already seeing a neurologist (who ran most of the studies in Ottawa) who had extensive experience with Huntington's. I was in the best place possible for a positive test.

It was hard emotionally, but I came up with something that has helped me extensively in processing my result. "I have Huntington's, but Huntington's doesn't have me." My neurologist would put me in whatever study I was eligible for - I had told him I was now his lab rat, a title I am proud to have.

I am grateful to have such a strong support system from my family and friends to my doctors to an international community I am now a part of.

Thank you so much for reading!
Christian