My long, twisty road to genetic testing for Huntington’s disease
How my own decisions were intertwined with concerns for my family
I met my first genetic counselor to discuss testing for Huntington’s disease when I was 22 years old and we feared my dad was at risk for developing the disease. He’d stopped working and driving at the time, and the counselor said his apathy and anxiety could be early signs of Huntington’s.
Still, he hadn’t been tested at that point. If I went ahead with my test and the result was positive, Dad would know he was positive, too. We talked it through with him. Although he was still adamant he didn’t want to test, he offered to do it for us. I sensed how fearful this decision made him. I still hoped that he’d be fine.
As for me, I chose not to test and got on with my life here in England.
Later, Dad was diagnosed with Huntington’s when I was 31. I looked into testing again, but decided against it. There was no treatment they could offer me, and I felt I had time before the disease would affect me.
As Dad went through the later stages of the disease, I couldn’t stop thinking about my own future and the risk to my four children. Further, I believed my brother was developing Huntington’s, and he was younger than me.
Dad passed away when I was 42. That put the disease even more at the forefront of my mind, especially as I was getting closer to my dad’s age of onset. I resumed my genetic counseling, but they were concerned that testing might hurt my mental health. I’d just lost my dad, and my brother was likely to have it and need my help. I agreed that the test felt too much for me at the time, so I took a break from the genetic counseling.
I was 43 when my brother was diagnosed, which increased my anxiety about developing Huntington’s. I started to lose confidence in myself and my abilities. My dad and brother hadn’t been aware the disease was affecting them physically, emotionally, or cognitively. So how would I know? I couldn’t trust my own judgment.
I looked for symptoms of the disease in myself. I tried to assess my balance, memory, driving ability, and core strength. I even looked in the mirror for signs. I disliked photographs and videos being taken of me because I was frightened of what I might see. I immersed myself in the online Huntington’s community.
Ready to know
I resumed my counseling sessions because despite my concerns, I felt I was in a better place mentally and wanted to plan for myself and my children. They drew my blood for the test when I was 46. I was nervous but determined to go ahead for my kids.
I knew that if my results showed the same CAG repeat length in my HTT gene as had appeared in my dad’s, my symptoms would likely start in a few years’ time.
After the test, there was an eight-week wait. I kept busy as I ran through all the different outcomes I might face. I thought about how a negative result might feel, how it would free my children from the disease. I thought of my results falling into a gray area and being uncertain about the future of my kids and me.
Then I thought about a positive result. Would I still be able to look after my son until he reached 18? Who would support my mum and brother? When would I have to give up driving? How would we manage financially if I could no longer work? I started to believe I was having jerky movements. I couldn’t sleep for two nights before getting my results.
On the day of the news, I was calm. Numb almost. As soon as the counselor said, “I am pleased,” I cried.
It was a huge relief that I hadn’t picked up any of my dad’s faulty genes and had been no risk to future generations. It was difficult to take it in, to believe what I’d just been told. I felt guilty because my brother had the disease; my result didn’t feel fair. But I knew being negative meant I could still continue to support my mum and brother, something I couldn’t have done if I’d developed the disease.
It took a few weeks for me to stop looking for symptoms in myself. My brother asked about my result, but he seemed confused, wrongly believing the disease only affects the male line of the family. My mum found it hard to be happy for me because she felt guilt that her son had it.
But I couldn’t have gotten through the testing process without the support I had from family and friends. I’ll forever be grateful to them.
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