If you’re reading this article, there’s a pretty good chance you already know a thing or two about Huntington’s Disease, so I won’t rewrite an encyclopedia here. With that said, I have no doubt that someone newly introduced to the topic may be starving for information, so I’ll include some links for further, more in-depth reading you can take away.

The whole point of this series of articles is to learn how to cope with these in-between years. A great way to decrease the fear and anxiety associated with the whole thing is to learn more about the beast that is Huntington’s Disease.

Knowledge is power.

Knowledge gives you hope.

Knowledge allows you to take control.

Knowledge teaches you, “holy shit, there is a lot of great research going on out there!”

Following my positive genetic test, I literally read a textbook. Not every single word, but probably 80% of the bloody thing. It was this book here:

I soaked up the words in that book like a dry sponge soaking up water in a sink. I think my head actually made a slurping sound. I’m not suggesting that you have to read a whole textbook, but for me, it helped me to develop that knowledge, which as I mentioned, can be so empowering.

The Beast

Huntington’s Disease is a neurodegenerative disease that affects parts of the brain and leads to behavioural, cognitive and movement disorder symptoms.

HD is caused by a mutation in a specific gene, now known as the Huntington gene. Everyone has this gene, but in people who will develop Huntington’s Disease, there’s a part of the gene that repeats itself more than what’s normal. That’s the mutation and that’s what people are talking about when they mention “CAG repeats.”

The “CAG” is the part that is repeating and if the number of repeats passes a certain threshold, the person will develop Huntington’s Disease at some point in their life.

I’ll talk more about CAG repeats in the next article. I think it’s a topic those of us who are in the in-between years spend a lot of time thinking about as it can give clues as to when the disease might start in a person’s life.

Genetics

Huntington’s Disease is an autosomal dominant disorder (say what?!) which means that a person only needs one copy of the mutated gene in order to develop the disease (we get two, one from each parent). And what’s worse, each child from someone who has the mutated HD gene themselves will have a 50 percent chance of inheriting the genetic disorder.

50/50. A coin toss. It’s a heartbreaking thing. With that said, as we’ll discuss in future articles, science is really helping us here. There are methods already out there to assist us with HD gene negative pregnancies.

Symptoms

Huntington’s Disease is usually described as affecting us in three different ways: movement, cognitive and psychiatric or behavioural disorder. Each person’s symptomatic presentation with HD is unique. It’s not unusual to see a little bit of everything in an HD patient, or, see someone whose symptoms are dominated by one particular disorder over the others.

There are more rare presentations of the condition, such as juvenile or late onset Huntington’s Disease, where symptoms can again be quite different than what is seen with the more common adult-onset HD.

Treatment

At this point in time, there are no effective treatments for Huntington’s Disease itself. What this means is, there are treatments that can be applied to certain symptoms, like medication to help decrease the chorea (movements) as an example, but for all intents and purposes, HD is a fatal disease with no cure.

Yet.

Like I said earlier, science is working itself to the bone (I know some scientists and it ain’t pretty, they’re all boney) on finding effective treatments for the disease itself and the future is bright.

One of the ways to be successful during these in-between years is to remember this fact, so I’ll say it again.

The future is bright!

As you read this, there are people in clinical studies testing new therapies! Right now! As we speak!

In the next article, more about the CAG repeat score and what we can, and can’t, learn from that.

Links for further reading