My Huntington’s Disease story begins like most people in the HD community. With a family history.

I inherited it from my father. I’m not able to track the mutant gene in my family very far back however, as its first arrival into my known genealogical tree was with my paternal grandmother. I say known because she was adopted and whatever happened beyond that is not information I’m able to access.

My memories of her are, unfortunately, not all that good. I only remember her being ill and living in a Psychiatric Hospital. In my mind, I can visualize her all scrunched up sitting in a chair and not really interacting with anyone.

At that time, my grandfather was living in a town about an hour from the hospital and he would come up on the train every so often to visit her. It was during those visits that I would accompany the family to the hospital in order to see the scrunched up lady I knew as grandma.

My grandmother died back in the early 1990's before Huntington’s Disease genetic testing was possible. Even though that was the case, I clearly remember that her diagnosis seemed to be commonly understood within the family discussions as being Huntington’s Disease. That’s what I remember being told.

My grandparents had five kids, four sons and a daughter. I don’t remember it as being an overly close family and, to be honest, I never really knew my dad’s three brothers.

Two of my dad’s brothers would eventually develop Huntington’s Disease themselves during the typical adult onset period in their thirties and forties. Due to the fact that I was not close to these uncles, their illness was not a part of my life. I did not watch them progress through their HD journey, I was never in the caregiving role for them and there were no funerals or celebrations of life as far as I even knew.

They lived. They suffered through Huntington’s Disease. They died. And I played no role in any of it.

My Dad

My father, as it has turned out, has been a bit of an anomaly in our family as far as his Huntington’s Disease is concerned. In fact, I’ve spent the majority of my adult life under the impression that he was negative for the Huntington’s Disease gene mutation, which meant that I, in turn, was also negative.

In fact, he even told me years ago that he had been tested once the genetic testing was available, which of course was not true.

I’m not sure why he decided to tell me that. Maybe it was his personality changing slowly with his HD or maybe he thought he was protecting me in some way, I don’t know. And I can’t get a strait answer out of him today.

Yes, that’s right, I said today. My dad is still alive at age 66 years old.

I’m not sure if my dads HD is just very slow in its progression or if he just has a late-onset form of the illness, but he has already outlived his two brothers by 15 years or so. Also, he is still living on his own and managing his affairs more or less, but I can see that starting to slide.

That odd disease progression, combined with his lie about testing negative, lead me to spend the first 40 years of my life thinking I was not at risk for developing Huntington’s Disease. Not at risk at all.

You could say ignorance is bliss, and I probably couldn’t argue with you, but it wasn’t until that 41st year of mine where I started to question whether my dad was really in fact negative for Huntington’s Disease.

I began to notice changes in him. Changes in his personality. Decondioning in his muscles. Weight loss. I began to ask myself, “is there such a thing as late-onset Huntington’s Disease?”

I took to the computer and did some research. Sure enough, late-onset HD is a real thing and it was sounding a lot like how he was presenting to me.

I lost my breath. Right there in front of my computer.

I was able to self-refer myself to the local Genetics clinic and proceeded to book an appointment to discuss the process and appropriateness of undergoing the testing for HD. They were very supportive and after hearing my explanation about why I thought it was reasonable to be tested, they agreed and my blood was drawn that very same day.

The Geneticist seemed pretty confident that the result would be negative and, quite frankly, so was I. To be honest, I barely even thought about it all that much over the five weeks I had to wait for the result.

So confident were we in a negative result, the Genetic Counsellor and I agreed that the results could just be given to me over the phone. I didn’t have to schedule an appointment to go into the clinic. I didn’t have to surround myself with support in the form of loved ones. I would just take the call.

It’s not the result we were hoping for.

Tell me about it. My CAG repeat score was 42. What does that even mean? I was ignorant about the science behind HD. I had never really taken the time to learn about it. Why would I? I wasn’t at risk!

Once my result came back positive I had to let everyone in the family know about the result, especially my two sisters. And my father for that matter, as he had not had a genetic test himself up to that point, I was breaking the news to him as well.

The genetic dominoes were tumbling.

My Sisters

My two sisters, aged 46 and 20, were now faced with the decision that everyone at risk for HD faces: whether to proceed with the Huntington’s Disease genetic testing or not. Neither of them were having any symptoms at that point, but in the case of my older sister, she already had a 2-year-old child at the time, my nephew, who would now be at risk if it turns out that she was carrying the mutated gene.

Both of my sisters decided to undergo the genetic predictive testing and the results were split: the younger sister negative and the older sister positive. My nephew was indeed now at risk.

More dominoes.

“Fuck,” was my response. What else are you even going to say? Talk about a complete shake up of my family’s whole world. In the matter of a couple short months we went from HD not even being on the radar to having me, my sister and my dad all positive for the gene mutation. Not too mention, my two kids and my nephew are at risk. They each have a 50/50 chance of inheriting this damn disease.

Fuck!

Where do we go now? What do we do? How do we cope? Do we just sit and wait for the inevitable hammer to fall?