I don’t remember the exact moment I found out my dad had Huntington’s disease, or how I found out it was genetic. What I do remember is showing off, in high school biology, that I knew the Huntington’s gene was dominant in males. My reasoning was that my dad, his dad, and his granddad all had Huntington’s. I knew my two sisters and I still had a chance at getting it, but it wasn’t as likely. This, of course, is not true.
If you have a parent with Huntington’s disease (HD), whether you’re male or female, you have a 50 percent chance of inheriting the gene and developing HD.
Looking back, I clearly wanted to believe it was more common in men. I used that explanation as a coping mechanism to deal with the fact that, as a 14-year-old, not only was my dad dying, but he was dying from something my sisters and I might die from, too.
For those of you who don’t know what Huntington’s disease is, “it’s a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain,” according to the Huntington’s Disease Society of America (HDSA). “It deteriorates a person’s physical and mental abilities during their prime working years and has no cure.” The HDSA Web site even notes that many describe the symptoms as a combination of having Parkinson’s, Alzheimer’s and ALS all at once. Those symptoms can include mood swings, depression, and personality changes; slurred speech; the inability to think clearly; involuntary movements called chorea; and eventually the inability to walk, talk, and swallow.
The typical HD patient begins showing symptoms between the ages of 30 to 50, according to the HDSA, which worsen over a 10- to 25-year span. My dad was diagnosed in his forties and passed away two days before his 58th birthday. People with Huntington’s often die from infections, aspiration pneumonia, or even complications from falling. My dad’s cause of death was cardiorespiratory failure, brought on by all the health issues surrounding his disease.
Although there are only about 30,000 symptomatic Americans currently living with HD, there are more than 200,000 who are at risk. To me, this at-risk reality is like being forced to live in no man’s land. The whole 50/50 thing is so definitely not definite. It’s unsettling knowing what my exact odds are and that they don’t lean one way or another. The odds aren’t against me, but they aren’t in my favor either.
People at risk don’t have to live in this in-between world.
The uncertainty can be put to rest by a not-so-simple genetic test. Jill Goldman, genetic counselor at the Taub Institute at Columbia University Medical Center, tells SELF that there is an international protocol which includes a DNA component that can reveal whether an individual will develop the disease. First, the person at risk will call an HD or movement disorder clinic to get information such as what the protocol entails, what the risks are, and what it costs.
Next comes a meeting with a genetic counselor who further educates the individual on the genetics of the disease and provides guidance on the potential impact of dealing with the DNA result. “It’s having the person think about everything that they’re going to have to deal with after getting the test results,” says Goldman. “Talking about what they would do with a positive result, could they cope with that? What about a negative result, because for some people that can be just as devastating.”
If the person wishes to continue, he or she often moves on to a psychiatrist for an evaluation. Here they will explore different coping mechanisms and ways to handle the diagnosis. “They’re also going to explore if the person is coming in with anxiety or depression,” says Goldman. If there are any concerns or a person isn’t psychologically prepared for what lies ahead, then therapy will be recommended.
The last step in the protocol is the actual neurological exam and the DNA test. “Here, the at-risk person usually has a choice about whether they want to hear what the neurologist finds or not,” explains Goldman. “It’s obviously an extremely personal decision to do this. Less than 20 percent of people at risk come for testing, and many of them will actually stop the process,” she says. “Even after having their blood drawn, there are people who don’t come for their results.”
When I first found out about my odds, I felt I couldn’t wait until I was 18 (the minimum age you have to be) to get tested.
I thought there was no way I could live without knowing. I figured if I tested negative, it would lift this huge weight off my shoulders. If I tested positive, at least I could deal with it head on.
I have since grown out of this mentality and decided it’s best I don’t 100 percent know what my fate with HD is. It wasn’t until I was 17 or 18 years old that I realized I didn’t actually want to know my results. If I’m being honest with myself, it’s probably because I got scared. The idea of feeling mortal at a time in your life when you’re supposed to feel invincible was way too frightening for my mind to grasp at the time. It still is at age 24. I already lost a lot of my youth through a divorce and a sick parent. I didn’t need to push myself into another form of maturity over another life issue most people don’t have to deal with until they’ve lived another 50 years or more.
To me, not knowing seems like my best option if I want to live a normal life. Most people don’t know what health issues they’ll have to deal with in the future; why would I need to know? If I decide to start a family, I’ll probably get tested. But until then, I’d rather live with my 50/50 chance.
Even though I don’t want to know my results, I still accept and recognize that HD is a part of my life. Huntington’s tends to be one of those diseases that some people choose to ignore or keep a secret, which I get; HD is a daunting reality and people should handle it however they feel is safest and healthiest for them. For me, I have found it best to fully embrace my at-risk status. By acknowledging and owning it, I feel I am able to gain more control in an uncontrollable situation. By sharing my status and having HD in my life now, it won’t be as earth-shattering if it comes later. By being up front, I am able to (somewhat) avoid pity. It’s hard to pity someone who isn’t hiding or ashamed.
Most importantly, sharing my reality helps spread awareness of the disease. Whether I’m writing about it to a wide audience like this or sharing my story with friends who share it with more friends, I truly believe that it’s through awareness that we will bring an end to this disease.
There’s no one clear way I can describe how it feels to have a 50/50 chance of Huntington’s. Honesty, it depends on if I’m having a glass-half-full or glass-half-empty kind of a day. Sometimes I feel jealous that other people don’t have to deal with a life-changing decision, other times I feel grateful for how it’s motivated and shaped me as a person. My feelings are full of these types of contradictories thanks to the uncertainty a 50/50 chance like mine leaves you with.
Overall, though, I feel sad. Even though I’ve come to terms with my 50/50 reality, I still feel sad picturing my life coming to end because of HD. I don’t mean a dying end either—we’re all going to die. I mean the life that I know as a loving friend, partner, daughter, and writer ending. Because inevitably, if I do have HD, that’s the reality I face. And since this reality is the only experience I’ve had with HD, it’s hard for me to imagine living on the right half of 50 percent.