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.
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.
About the Author
MLM
Thank you Becky for putting into words, so eloquently, with your recent postings, the "lived" experiences of the early symptom stages (prior to genetic testing/clinical confirmation) and after testing for both you and your brother.
Having spent the last few years questioning how my brilliant and (formerly) professionally successful brother who is 2 years older than me could have declined so rapidly on executive function, cognitive & emotional/social aspects with so many parallels to the behavioral and functional changes experienced by your own brother, I can't say enough about how impressed I am by your compassion and understanding as concerns "pre clinical" stages of HD and that you remain such a "rock" and key support for your family/brother.
Sadly this is often not the case.
It's wonderful news too that you have tested negative for both you and your children.
Now experiencing my own "jumble" of seriously strange and challenging symptoms/executive function declines for close to 6 years that very much mirror/track many (but not all) of my brother's, and match up with the pattern of decline I witnessed in my father in the last 20-30 years of his life (he passed in 2010 with no formal diagnosis other than he possibly had something of a corticobasal nature) I have been facing a huge uphill battle trying to get my primary care physician/GP to consider that...yes...these huge declines in almost all my formerly strong abilities..."could" have a genetic element to them.
On my last visit with my GP I pleaded that they allow me to at least get genetically tested. Finally, last week, I received a call that I will be offered 4 one hour appointments in Dec/Jan with a genetic team.
All who have known me (family, friends and former colleagues) are very much in agreement that I am no longer my "former self" on almost any level. I have been unable to work in over 5 years and am barely keeping up with my "basics" of life such as household, shopping, cooking, paperwork etc. But I continue to push myself through the entrenched and deepening apathy which was actually what I consider my first symptom.
I'm realistic that there are several other neurological/health conditions that could also mimic HD, so don't have such a concrete way of determining positive/negative diagnosis through a CAG number, but at the very least, I am hopeful that testing will at least eliminate HD as a possibility.
I look forward to any future postings you might do.
BTW...this reply took me almost 2 hours to compose compared to the probably 20 minutes or so it would have taken a few short years ago.
It's declines in functionality like this that are really frustrating...and yes, concerning.
Becky Field
Thank you so much for taking the time to read and comment on my column. I am so sorry to hear the affect HD is having (and had) on you and your own family. I wish you well and hope you have the support you need- Becky
Herwig Lange
having to wait 8 weeks for the test results is torture. Labs can do the test in 3 DAYS! Then it must be the person's choice, when s/he wants the results.
Becky Field
Dear Herwig, 8 weeks is a torturous wait indeed. Thinking of anyone waiting for their results right now. Many thanks for reading and commenting -Becky.
Ellie Bee
We’re waiting for my sister’s spouse’s results. It’s been 7 weeks today since the blood draw. My sister is so worried about her partner, so, she hasn’t slept well. Her spouse on the other hand is thinking the result is neg until otherwise confirmed. Symptoms are loss of balance when standing or walking at age 75–so—we’ll see. Anyway—the 7 or 8+ weeks to get results feels a little torturous.