When I was 14, I listened as my physics teacher described the genetics behind HD. Most of my classmates barely paid attention, but this day would really change everything for me.
I knew that my grandmother had died of the disease a year earlier. What I didn’t know until that day was that because of this there was a 50/50 chance that my mother would suffer the same suffering I had seen my grandmother endure. And that if she did, there was a 50/50 chance that one day I would inherit this terrible disease myself.
Huntington’s disease is a rare and incurable degenerative brain disorder – it is sometimes described as Parkinson’s, dementia and motor neuron disease all rolled into one.
If you have the faulty gene, you’ll likely start showing symptoms in your 30s or 40s. As I saw in my grandmother—and now I have seen in my uncle and mother—symptoms include depression, clumsiness, involuntary movements, mood swings, and difficulty swallowing, speaking, and breathing. They all get progressively worse and people who become symptomatic will die about 10 to 20 years later.
I listened that day as my teacher listed all these symptoms, and I saw my potential future. I tried to convince myself I was wrong. My parents would certainly have told me. But when I saw their faces as I explained what I had learned, I knew my worst fears were true.
They had decided to wait for me to ask questions about HD to explain that not only had my mother inherited it, but also two of her three brothers. While I understand their decision now, I still wish I hadn’t discovered how I could die in a science class. They must have been worried about what to do. How do you tell children who have seen their grandmother die that this will be repeated for generations?
Being the oldest of my siblings and cousins who could have inherited Huntingdon, I couldn’t share this life-changing news with any of them. They were too young to know that not only had my mother inherited the gene, but so had two of my uncles—only one uncle had tested negative.
What is Huntington’s disease?
Huntington’s is a hereditary disease that affects the nervous system of the body. If a parent carries the Huntington’s gene, each of their naturally conceived children has a 50 percent chance of inheriting it.
Those with the gene can live for many years without symptoms. It is uncertain when symptoms will appear, but this usually occurs between the ages of 30 and 50 and the disease is progressive.
Early symptoms include depression, memory loss, mood swings, and clumsiness. As the disease progresses, it can cause involuntary jerking movements, difficulty speaking and swallowing, personality changes, breathing difficulties and mobility problems.
Genetic testing can determine whether someone has inherited the faulty gene, although many young people from affected families choose not to get tested unless they begin to experience symptoms.
Those who choose to get tested will be referred to a genetic counselor to explore the benefits and risks.
People with a family history of Huntington’s who are planning to become pregnant can opt for preimplantation genetic diagnosis, a form of IVF in which embryos are tested before implantation to make sure they don’t have the Huntington’s gene.
There is currently no cure for Huntington’s disease, although research into new treatments is ongoing. Therapies and medications can help manage symptoms, including antidepressants and medications to control involuntary movements.
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In the years that followed, my two sisters and five cousins went through the same process to discover how HD could affect them. To this day, it has connected us in ways I could not have imagined.
We all grew up with this shadow over our lives and shared that pain together. But in the end, we shared the feeling that if our parents’ lives were to be cut short, and possibly our own, why should we dwell on this? Instead, we held charity balls, jumped out of planes, and ran marathons. We’ve never let HD become a taboo subject in the family and we’ve had open conversations about it, but we’ve never let it ruin our childhood.
Finally, the time came for what none of us wanted to face. I was the first of my generation in the family to decide I needed to know if I had inherited the gene. I realized I didn’t want to spend my life questioning every movement of my body as a possible sign of the disease.
I couldn’t continue with the “what if” and needed certainty. I know not everyone feels that way, and in fact I’m in the minority – studies show that only 10 percent of people who know they’re at risk ever get tested. Most choose not to live the rest of their lives knowing what their future holds.
But for me, wanting kids was another thing that drove my decision. There are now options to prevent passing on the gene. People can get pregnant naturally and undergo a prenatal diagnosis test. Or they can use preimplantation genetic diagnosis, a type of IVF where the embryos are tested. Both options are available without knowing if you have inherited Huntington’s.
After agonizing over these options, I decided that if there was a chance I wouldn’t have to go through IVF to have kids, I wanted to know. This was a lot to decide when I was in my early twenties with Liam, my friend of three. Most of our friends weren’t even close to these discussions, and I felt guilty for forcing them so early.
Not only did we have to discuss our plans for our children, but as part of the mandatory genetic counseling you go through before getting the results, we had to discuss how Liam would feel knowing our future could be cut short. He could eventually become a full-time caregiver and I hated that I asked him to say he was okay with this at age 24. Fortunately, we had always been open about this from the start, so while it was mentally exhausting, we were prepared.
After the three appointments of guidance, May 31, 2019 was finally there. I was filmed as part of a PBS documentary The gene: an intimate history, so I had not only Liam in the room with me – but also a cameraman. Because of this, I saw exactly what happened when they said the words, “It’s good news.”
“F**k” – that’s the first word that came out of my mouth, not very deep, but honestly I had no idea how to feel. Liam turned to me and said “well done” – to which I said, somewhat confused, “for what?”. I’d have done nothing but win this cruel genetic lottery – but what the hell do you say to someone who’s just regained a life they thought they’d never get?
Moments later, my family entered the room. I had decided to have them wait outside because I was afraid to tell them more than to know myself. But as I told them, and we held each other tight, it was just beginning to sink in.
My youngest sister Maud has since told me that she really couldn’t have heard me say what the result was. Yet she automatically hugged me tightly, along with my other sister Roisin, and we all stayed like that for a long time – it was proof to me that the result didn’t matter.
We were aware, whether negative or positive, it was still a mental roller coaster. Of course we celebrated, but when I saw them hug each other as they imagined that this day would repeat itself for them, I also knew that our Huntington trip was far from over.
I already understood from family experience that being told you didn’t have Huntington’s was not as easy as just going on with life. About 72 percent of family members who test negative for the gene feel guilty or ashamed about family members who have or may have Huntington’s disease.
This didn’t hit me right away, but I was hyper-aware that I had to watch out for it. In the year that followed I lost my job and got a new one two weeks before the lockdown. I spent the anniversary of my test at my parents’ house, in the midst of the first wave of the pandemic.
I think to begin with, this whirlwind of events masked almost every chance I had to think about how I was coping. I had believed for 11 years that I knew exactly how I would die. I convinced myself that I had the gene. I had a strange sense of security about my health. Then all of a sudden I didn’t, and I spent my days constantly worrying about the pandemic and fearing my mother shielding herself.
In the years since the test, I convinced myself several times that I couldn’t breathe. I spent hours googling symptoms and found that I had a growing list of deadly diseases.
I finally got help from a therapist after several severe panic attacks in 2021 and then it really dawned on me how life-changing May 31, 2019 had been.
With every little change I felt in my body, I longed for the assurance that I could have identified HD when I heard the results of the test. But not everything has a 50/50 answer. There’s no chance I’ll get another disease, and my brain can’t handle this. Since recognizing this, my panic attacks have subsided and therapy has allowed me to delve into the fears I still harbor for the future.
I will still have to watch my uncles and mother go through this disease, and when or if my sisters and cousins decide to get tested, I will be there for them. So I know I have to be mentally prepared to face the rest. As therapy has helped me understand, I can’t do that unless I take care of myself.
Although a drug trial my mother participated in sadly ended abruptly recently, there are plenty of Huntington’s disease trials going on around the world.
I remain confident that for the generation of my sisters and cousins there will be a breakthrough – so that we can finally say that the story of our Huntington family is over.
May is Huntington’s Awareness Month