Guest Contributor, JL

Genetics – by JL


My Mom was diagnosed with Late Onset Huntington’s Disease (let’s just call it HD) in July of 2017. It is a terrible disease.

For those who are unfamiliar with this rare ailment, broken-down, it is simply the degeneration of cells in the brain and the body. A brain disorder that causes uncontrolled movements, emotional problems, and loss of cognition. I’ve been calling it a cross between Parkinson’s and Dementia. That’s the easiest explanation that most everyone understands. It just plain sucks.

I first became aware of this disease while watching the TV drama ‘House’ years ago. One of the characters, a young doctor, had the HD gene. Knowing that at some point in her life she would lose many of her abilities, she lived her life to the ‘fullest’ by doing all the drugs and all the sex and so on. One way to deal with it I suppose.

Genes. Fucked up little things they can be. Genes can provide us with the clearest of blue eyes, beautiful think hair, and at the same time…an outline of how you may live your last days (provided that bus doesn’t run you down first). See, that’s how I see HD. My potential death sentence. Being a child of someone with HD gives you a 50% probability of having that gene run through your body. A 50% chance, that if you live long enough (in our families case, to about age 50-55), you will begin to develop the symptoms. You may walk with a little less balance, make strange, uncontrollable movements. There might be more anger, irritability, irrational behaviour…all traits (symptoms) that we have seen in my Mom.

Even now, at age 39, I look for those signs in myself. I second guess so many moments during my days. I even joke when I can’t remember something or am clumsy “must be the HD!” HA, Ha, ha…but it’s not really funny. It’s devastating to think about.

I’m currently in the eight week predictive testing program held at the Centre for Huntington Disease through UBC. I get my results later this month. Longest eight weeks of ones life I tell you.

Will I be clear of this disease? Or will I test positive and then have to live out my days waiting for the inevitable? Most importantly…will I pass the gene to my daughter. Will she then have to go through all of this waiting too?

The wait…the weight…

The weight of it all is SO heavy. I go along through my days and then the weight creeps up on me. My brain triggers that thought, that ‘what if’. It’s so damn heavy.

January 6, 2018

Sure, science is happening, research is taking place swiftly and progress is actually being made. There is hope…for me, for my daughter…if we indeed have the gene. For my Mom? Nothing. There is currently nothing that can be done.

When we first heard of this diagnosis for my Mother and the genetic implications, I got on Google so fast your head would spin. Typed in: “How to prevent Huntington’s Disease”. It was the first time Google seriously let me down. The first time it had no answer. Nothing to prevent the inevitable. No pill, no brain games, no therapy. Not yet. Just a slow degeneration of the cells in the body.

Right now it’s the unknown that surges through me. Takes my mind on tangents, steals my sleep. Soon we will know my fate. I just want these eight weeks to be ‘up’. If I’m negative…fantastic! If I’m positive…I don’t know. Participate in research, get in to any available trials…worry about my daughters fate…

What I do know, is that with either result, I am making a point to live my life more. To enjoy more experiences, take more holidays, to not sweat the small stuff (that will be a learning curve!), to make choices in my life that result in more happiness for myself and my loved ones. Even when those choices are tough. Happiness and life is worth it.

So I sit, and I wait. I wait for that fateful appointment when I sit across the table from the Genetics Counsellor and listen for that word to come out of her mouth. Negative. Positive. What will it be?

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  • Reply Linda February 11, 2018 at 7:58 pm

    I hope it helped to spell it out, it certainly took guts and honesty. I don’t know what to say to you. I too have been in a similar moment. Like you I needed to know. It’s easy to say don’t go down the ‘if’ route at 3.00 am, but one does. I’m not one for tablets but give yourself a break, you maybe have a mountain to climb and you need to function, not only for yourself but for your daughter, try a sleeping tablet, or half a one, you can’t operate on empty.

    I don’t know where one finds that extra strength, but one does. I’ve seen it in friends and I’ve experienced it myself. The wait, is a weight…….hug your friends and family close…..I remember my wait time, as I sat in a wheelchair (little energy) 2.00 am in a very quiet, still hospital corridor… do go through to tomorrow, really you do.

    If I can help, in any way whatsoever, just let me know.

    Thinking of you.



  • Reply jennjilks February 12, 2018 at 5:19 am

    This is so sad. My dad had dementia, due to a brain tumour. You just have to deal with it. The ‘what if’ train is hurtling down your tracks. I think the key is to live each day to the fullest. My husband is managing his cancer. You can’t say X, Y, or Z, disease is the worst. You just have to manage your situation.

  • Reply Jan February 12, 2018 at 12:46 pm

    While I am not at risk for HD, I am one of the many Canadians who is affected by the disease. Of my three step-children (their mother had HD), my youngest was the only one to inherit the HD gene. There are so many repeats of that CAG tri-nucleotide in our family that she was symptomatic by 18, when she had the genetic testing to confirm the diagnosis. She was the youngest person (at that time) in Alberta to undergo the genetic testing. She died in August, 2016 a the age of 29.

    As a family member affected by this horrible disease, I support HSC financially and through the sales of amaryllis kits every year for at least the last 25 years. I want you know there are people like me trying to do our best to be supportive, both financially and emotionally. But nobody can feel the way you do as you undergo the testing.

    As you said, the painful waiting and the weight you carry is indescribable. My wish for you and your daughter is peace, whatever the genetic result.

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