I’ve spent most of my life knowing I may have inherited a faulty gene that would cause Huntington’s disease, a neurodegenerative disease that can be fatal. My grandad had the disease, my mum has it, and I am yet to take the test to find out if I have it too. It’s a 50/50 chance of inheritance. Right now, I am happily ignorant of whether I carry the mutation or not. A coin toss could give me two completely different lives. Once I know the results, there’s no going back. So far, everyone who has been tested in my family has tested positive. It seems the odds are against me. I’m 27 years old, and I’m starting to think seriously about my future, whether that is moving overseas or contemplating having children. Whatever big decisions I am facing now, I can’t help but wonder, could this disease overshadow them? I explore this tension in a newly released short documentary, Fifty Percent.
From 1993, people who are at risk of inheriting the gene have been given the option to take a test that would tell them either way. Being born in 1994 meant I grew up with this option. Many people choose not to, for many different reasons, but one of which is that it gives them the freedom to live their life as any person would – not knowing how they might die. There is no easy answer, and there’s no right or wrong way. My mum is clear that her diagnosis changed her life, but can devastating information overwhelm us? And just how powerful is the power of knowledge?
Huntington’s disease is caused by a mutation of the huntingtin gene that we all carry and that creates a protein we need to live. A child born to a parent with the mutated huntingtin gene has a 50% chance of inheriting the disease, and is considered to have a positive diagnosis if they inherit the mutation. Once symptoms begin to show, you have generally got between 10 and 20 years before the deterioration of your brain cells is deadly. The symptoms are different for each person, even each sibling, but they affect people physically, mentally and psychologically. You can lose control of your movement and you can lose control of your mind. Ultimately, you risk losing a sense of yourself.
Deciding whether or not to take the test has always fascinated me. At age 18, when I was old enough to be tested, I wasn’t too worried about myself but I was curious how everyone else would approach it. I remember talking it through with my friends, asking what they would do in my position. Everyone had a different answer. As a journalist, it makes sense to weigh up all the options and for years I wanted to explore this discussion that touches on the very philosophy of how a person chooses to live their life.
My mum talked to me about her journey with Huntington’s as I grew up. From a young age I knew what this meant and I knew how it might affect me, but I was initially only concerned for her, not for myself. I have always been inspired by the way my mum approached the disease, and I drew hope in her bravery of facing it, accepting it, and continuing to live her life to the fullest despite it. My mum takes great joy in the wonder of the universe, like her father before her. An artist, my grandad painted the world for all its beauty and pain, and marvelled in all that caused life. In life, and in death, they have encouraged me to do the same. This has meant that I’ve never felt an urgency to get tested, but things are starting to change.
I am in a uniquely different position than my grandad was in. He was diagnosed much later in life, even my mum was tested after she had had children. I am of an entirely different generation. A generation that has grown up with the internet, and immediate access to information. A generation that has seen constant advances in science which allow for possible treatments of different diseases. And yet, in the case of Huntington’s, some people choose not to take part in those trials, and many still choose not to get tested. So what is the best option? And how do us Huntington’s kids go about our lives? We are the first generation that are growing up with decisions relating to the disease ahead of us, rather than behind us. We have to consider whether we may or may not pass on the gene to another generation. But also the first to have the option to take part in IVF which would allow selection of an embryo without the mutation.
The isolation of the gene in 1993, the reason I have the choice today, has also led to significant interest in Huntington’s disease. There is plenty of research under way attempting to harness new technologies that would allow treatment of the disease, and ultimately lead to lowering the production of the huntingtin protein. Biotechnology and pharmaceutical companies are looking at gene-therapy techniques, in order to lower the amount of protein created by the huntingtin gene. Lowering it could give a Huntington’s positive person more time before symptoms begin, and slow the rate of symptom progression. Gene therapy is different to gene editing though, which is also on the horizon. CRISPR, a gene-editing technology, would alter your DNA rather than limit what it instructs your body to do. Gene editing and selection is itself a Pandora’s box – how badly do we want to open it?
For me, these developments and opportunities raise more questions, and I hope that those who watch the film can see those of us grappling with them. Taking the test is the first step to opening up a range of different discussions, all so intimately personal, and acts as a conduit to question our moral and ethical obligations. For now, I take hope in my mum, who taught me to see beauty in all things. She was also the first in my family to get tested after my grandad’s diagnosis. She took one step, and it’s now my turn to decide where I place the next footstep. The strength to do so comes not only from my molecular makeup, but also the bonds of love and energy that surround me – and no genetic mutation can take that away.