My journey to pursue genetic testing for Huntington’s disease

“In sickness and in health, for as long as we both shall live.”

These words took on deeper meaning for our family recently after I underwent genetic testing for Huntington’s disease.

Huntington’s disease took our dad’s life in May 2020, and my brother, Gavin, was diagnosed with it in January 2022, at the age of 42. It’s also claimed the lives of our grandfather and great-grandmother.

I’d considered genetic testing for more than 20 years, but finally decided to proceed with it last summer. Most of my family was aware that I’d go through with it. One of my children, Tom, was too young to fully understand what it meant, but two of my other children, Hannah and Jack, were fully supportive of my decision. They both wanted to know their own statuses.

My eldest girl, Andie, had been supportive years before, but then she read my genetic counseling reports. We talked at length about the potential consequences of getting tested. I think the more she discovered, the more anxious she became. She grew less confident about finding out my status as well as her own.

Recommended Reading

March 1, 2023 Columns by B.J. Viau

Genetic testing for Huntington’s is more than a simple coin toss

I had about a 50% chance of receiving a positive result, which would increase my children’s inheritance risk from 25% to 50%, if true. Conversely, if my result were negative, my children would have no risk. There was a slight chance I could fall into a gray area, where I wouldn’t develop the disease, but my children might’ve still been at risk.

I decided not to tell Andie that I’d gone ahead with a blood draw to proceed with the testing, which would take about eight weeks. The rest of the family supported my decision, including Andie’s boyfriend, Joseph, and his mum and dad.

My genetic counselor urged me to consider my decision carefully. She noted that the results could seriously affect relationships. I did consider my decision, and remained confident in my choice.

Andie had accounting exams coming up, so Joseph and his family took her on the trip of a lifetime — right when my results were due. We knew she’d be anxious and stressed about her exams and saw no point in affecting her concentration with the genetic testing results.

Surprise!

Unexpectedly, Andie sent me a photo from Disney World with the words “We’re engaged!” I’d been so wrapped up in the genetic testing that I hadn’t even suspected Joseph would use the trip as an opportunity to propose marriage. It was such a lovely surprise, made all the more special because he knew what was at stake. He could’ve waited to see what my results were, but he didn’t. He loves Andie, he wanted to marry her, and that’s all that mattered.

Still, the pressure was mounting on me, particularly after the engagement. Future grandchildren, along with Joseph’s parents, would become additional family members who could be affected by my results.

A couple weeks later, I received the results. They were negative.

I called Hannah first, as I knew she was with Andie. Then I told Andie. I explained why I hadn’t told her about the test before. I asked for forgiveness and told her that I thought I’d done it for the right reasons — to protect her. Thankfully, she forgave me and said she was grateful I hadn’t told her. I’d spared her all those weeks of stress and anxiety.

I’m so proud of Andie and Joseph and feel lucky for the lovely family my daughter is about to marry into. I wish them all the happiness in the world. I’m so pleased that I’ve been able to gift them the knowledge that they can marry free of Huntington’s disease. Of course, I’m also acutely aware that it could’ve been a very different outcome.

Note: Huntington’s Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Huntington’s Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Huntington’s disease.