Shortly after our wedding in 2013 I decided it was time I knew my Huntington Disease (HD) status. HD is an autosomal dominant disease which means it's passed from parents to child. The chance of a child inheriting HD is 50%. This is not 50% of the total number of children, it is a 50% risk to each child.
Basically, you have an equal chance of being diagnosed either positive or negative.
Growing Up Around Huntington Disease
Growing up, I watched my HD positive oma become increasingly dependent and disabled for many years. Because I was so young, it's hard for me to recall who she was before HD took over her body.
(*side note: There are so many reasons why videotaping your family is a must, this being one. Health status can change rapidly, people unexpectedly die, and children grow up fast. )
As for my dad, he went through a lot of changes starting around 1995, and has eventually become unrecognizable. He’s become someone else, certainly not the fun-loving guy he used to be.
Though I had a positive relationship with my dad when I was younger, by adolescence it had turned into an incredibly difficult relationship. Throughout my teenage years, it was a huge challenge for me to try and understand what these changes meant for him. It was also hard to understand and manage my concerns for what this all meant to both my family and my future.
I soon realized that dealing with this was not going to be an easy road. Throughout high school I was surrounded by peers who didn't understand the long-term fears I had. The worst complaints they had about their parents were dealing with curfews or not being allowed to go to that big party on the weekend. The only somewhat saving grace was a friend whose mother was diagnosed with Multiple Sclerosis in which we could share some conversation, but then again there was the stigma around these diseases as well as our adolescent immaturity that halted any way to properly deal with it.
At this point, I was literally afraid of what was happening, for my life, for my future, for my family. The peer support was minimal and the understanding, even worse.
No other families in the school had HD, that I knew of, and the Internet was not even close to what it is today for gathering information or finding support networks. I had great friends but they couldn't understand what I was going through. It felt like I had to grow up faster than the rest because I knew I had big decisions to make sooner than most.
Leading up to my 20's I was often on edge about my family and our future with HD. Although I was focused on living each day to the fullest while finishing post-secondary and traveling, as each day passed I knew I was getting closer to finding out my fate - good or bad.
The Cover Up
Overtime I realized I was extremely good at pretending things were ok. I was good at smiling, maintaining friendships and staying involved in clubs and athletics while maintaining good grades throughout school.
But the truth was, I was functionally depressed - and no one really knew how bad it was.
I would often wake in the morning and wonder what the point of getting out of bed was.
Why are we behaving like rodents on a wheel?
We just punch clocks all day and repeat-repeat-repeat.
What more does life have to offer?
What in the hell is actual happiness?
Do we just grow up to work and have kids, and then they do the same too?
There were days I couldn't figure out why I was crying, why I was so emotional. Why did I feel so hurt?
I tried to find happiness in people, material things and traveling but to no avail, at least not long-term. It seemed no matter what I did, I still didn't feel fully satisfied. And even now, I'm not sure I have it figured out. Actually, I know I don't. I still struggle with depression and anxiety. It's a life sentence I think - but I've learned to manage it much better.
Reality Hits
As I grew older, I started working at nursing homes as a Health Care Aid. I liked helping people and was thinking about a career as a nurse. It was also an excuse to care for my oma in her facility. I knew I could do the job well because I couldn't imagine treating someone with disrespect and stripping their dignity in an already vulnerable state. I was already being one of the primary caregivers for her at family events, feeding her and changing her soiled briefs, so why not get paid for it and spend more time with her?
My oma was in her late stage of HD when my father too, was diagnosed with HD.
My worst nightmare had come true.
His positive test meant I could be next and there was nothing I could do to escape that fate.
Although we suspected he was positive for HD, the weight of a diagnosis cannot be conceived prior to experiencing it. Even though I previously assumed he was positive and that a test solidifying that hunch wasn’t going to change much – it certainly did.
Because my oma passed away 7 years ago and her children were being diagnosed and symptomatic of HD, the focus quickly switched to my father’s generation. This also meant it was lending itself to shine a light more brightly on mine.
Cue the intense anxiety and depression; all of this left me with a sense that my life could be flashing before my eyes without knowing it; my time could be limited to achieve everything I dreamed of; my independence could be gone well before I even hit retirement age of 65.
For my father now, he has become dependent on my mother for several daily tasks - or at least for the reminders to do them. Although he can still walk, he can no longer drive, manage our farm or financials. He walks with an unsteady gait, occasionally chokes on his food and has a fairly apathetic attitude due to HD and all the medications he takes to control the symptoms
Making a Change and Taking a Stance
Seeing my father this way has driven home what I had experienced with my oma. Because my children are relatively young given my dad’s age and progression, they will never know who my dad was before HD. This meant if I too was positive, my own grandchildren would not likely know me for who I am today and only get to see someone withering away - my personality, my independence, my strength.
This was a major motivator in getting my HD status figured out.
Ever since I can remember, I vowed I would do anything in my power to relieve my kids of this same fate. I would save them from the horror of wondering, every single day, whether they too would be diagnosed positive.
Thank God technology has come a LONG way since I was a child. Our parents didn't have that option. They actually didn't have any option as HD wasn't diagnosed in my oma until just before my youngest sibling was born (#18 of all the grandkids). In addition, researchers had no idea the disease was specific to DNA until 1993.
Long-story short, I arranged all the In Vitro Therapy paperwork ahead of my test result day because I knew if I ended up being positive, I wouldn't be able to cope with the paperwork afterwards. Rather, I would simply submit the signed forms in the mail and wait out the 6-week period for the facility to triage them.
During that time, I allowed myself to be depressed and angry. Being true to your emotions is, after all, how you can work through them. This obviously needs to be done in a safe and healthy way with support and boundaries. Given that I only brought my husband and mother to my test result appointment, this secret was a hard one to cope with given that my support circle was small. This was however, beneficial for me at the time as well but I’ll elaborate on that another time.
Leading up to the test result, I did some video diary work - that I still can't bring myself to watch. I know it is filled with so much fear and so many questions. I was so hesitant to believe I could be positive because I really felt I was going to be negative and free from a future with Huntington Disease. Oddly though, in casual conversations prior, I had a lot of people tell me I “definitely couldn’t have it” and I would remind them that the chance is as good as it is bad - with some part of me, the horrified part, wondering if I in fact was positive.
The video diary I did the night before my test result was a long one. I think some part of me felt like I couldn’t miss the opportunity to try to get out every thought and fear before my perspective would be forever changed. I thought I wouldn’t sleep anyways and if I did go to bed, the next day came that much sooner, and I wasn’t entirely ready for that.
I was so horrified for that period of my life. Socializing was a challenge because there were some people I wanted to invite into my nightmare but knew that it would change our relationship, the way they looked at me and the topics of our conversations. I nearly vomited on a regular basis from anxiety. I had an antidepressant/antianxiety medication to help but popping a pill didn’t change the fact that I had a huge stressor in my life and I couldn't get rid of it.
Our whole drive to the appointment I was silent. I couldn’t get out of my own head and had nothing great to talk about because I couldn’t think of anything else. How was I going to react depending on what I heard? How would my mom and husband feel? How could I comfort them if they needed it? I had told my mother I would need to be on suicide watch if I was positive - did I mean that? How will she cope if I’m positive? Will she worry about me daily? Shit. Why did I say that?!
Some questions people in my situation are faced with:
How do you live your life knowing you have a disease but aren't showing symptoms?
How do you cope knowing that tomorrow might be the first day of your symptoms, or it may be the next week, or month, or year, or 5 years...?
The date of symptom onset can't be predicted - at least not precisely. Can you live with that?
This disease will be passed to your children if you choose to have any at all. Do you take the chance and have them the 'natural' way and cross your fingers that you get the negative result of the 50-50 chance? OR do you try In Vitro Therapy to avoid passing HD along? More importantly, can you afford to do IVT? The time, finances and emotional energy involved is monumental.
How will you cope with the concept that your anticipated future is forever changed with a positive result?
Will you live your life differently if you receive your result? Why should that change how you live day-to-day now?
***I use "natural" conception to mean sexual intercourse between a man and woman. This is important to note because some people, although capable of conceiving 'naturally', choose In Vitro Therapy with genetic screening to ensure their children are free from illnesses that have no cures. Please note: with these processes, it is 100% illegal in Canada to choose characteristics such as gender, hair colour, eye colour, etc.
Moving Forward
I’m not sure I’m doing my pre-test stress/thoughts/experiences justice here but hopefully some sense of understanding can be established. I’m not sure if writing about my crying, tears, frustration, anger, etc... in specifics would be more helpful to those seeking commonality, and perhaps it would be but, that can be revisited.
So I’m going to stop here and elaborate at another opportunity.
*cliffhanger! ;)
The major message here is:
For those who know someone going through something, there's nothing more important than being there in some way, shape or form. Whether you know every detail of what’s happening in someone’s life or very little, it’s the support and dedication to your friendship that goes a long way. You don’t need to know what’s going on in a friends life to offer an outlet for them; an opportunity to forget the bad stuff; an opportunity to create meaningful and lasting memories that they may cherish more than you are aware.
To those who aren’t connected to a situation similar to this, thanks for listening.
Empathy and the effort to understand challenging situations can move mountains.
