My dad Stephen was always the life of the party. When his 60th birthday arrived, we wanted to mark it in a special way.
Gathering with my mum Debra, 60, and siblings, Katie, 34, Mitchell, 30, and Shannon, 28, we played bocce.
Dad was a massive sports fan, so I knew he would’ve given anything to join in. But it was a bittersweet day as he was stuck on the sidelines.
He was nearing the end of his 20-year battle with Huntington’s disease. As he watched on from his wheelchair, a smile of recognition would come over his face. But other times he was locked in his own world.
It broke my heart.
Huntington’s disease is a genetic disorder that affects the brain. It causes the gradual death of brain cells, leading to a loss of movement and memory.
Most sufferers live 15 to 20 years after symptoms first appear, but there’s no cure or treatment.
As a child, I remembered noticing the strange, jerky movements my pop, Roger, made.
It wasn’t until after he passed away in 1994 that tests showed he’d suffered from the disease. The diagnosis was a huge blow to my dad and his five brothers.
I was just 11 years old, so my parents kept the full truth about Pop’s illness from me and my siblings. But one year later, Dad, then 40, started showing symptoms too.
My parents had just built their dream home and my loving dad should’ve been in the prime of his life. Instead he started to struggle terribly.
While everyone’s battle with Huntington’s is different, Dad’s personality and mental health were affected first.
He became depressed and self-destructive, even attempting to take his own life.
The thought that he might have passed the condition on to his children added to his despair.
I didn’t know much about Huntington’s. Was Dad just unlucky? Was it a man’s disease?
It wasn’t until I was in a biology class when I was about 15 that I realised the implications.
I opened my textbook to a page on genetics. There was a diagram explaining how Huntington’s is passed on.
An affected parent has a 50 per cent chance of passing on the mutant gene to his or her child, it explained. Women could get it too.
My stomach dropped.
What did this mean for me and my siblings? Would you want to know?
A blood test could reveal whether or not I had the mutated gene, but I had to wait until I turned 18.
When I was 17, Katie took the test and thankfully it came back negative. But a year later, I wasn’t ready to know my own fate. I want to live a little first, I thought.
I travelled and made the most of life. But when I was 21, I realised I couldn’t wait any longer. All my life decisions would be affected if I had Huntington’s.
So in 2005 I took the test. Two months later, Mum and Katie came with me to hear the result.
Sitting either side of me they burst into tears as the geneticist broke the news.
‘The test came back positive,’ he told me. ‘You have the Huntington’s gene.’
I just felt completely numb. I was so young and healthy. How could I have something so terrible in my DNA?
I was terrified knowing that most sufferers start having symptoms in their 30s or 40s.
In a way, I felt like I was broken. Would people look at me differently if they knew?
Eventually, I started to share my diagnosis with selected friends and family.
On top of my own fears, I watched my dad’s health continue to decline.
Sadly, Dad’s 60th birthday was his last and he passed away just before Christmas.
It was heartbreaking to say goodbye, but in some ways we’d lost him to the cruel disease years ago.
While devastated, Mum was a pillar of strength. Not only had she cared for Dad, but she helped each of us kids through the testing process.
Thankfully, Mitchell and Shannon tested negative too.
An incredibly close family, I knew they felt guilty I had the gene and they didn’t.
While it does feel unfair that I drew the short straw, I’ve never wished I could swap places.
Knowing my siblings have avoided the disease keeps me going.
It’s now been 11 years since I was diagnosed and I’m determined to stay optimistic.
After all, the test was positive so I might as well be!
Ultimately, knowing my fate has been liberating because I can make the right choices for my future. I live in the moment and cherish every single day I have.
If I trip over a word or forget something I do wonder if it’s a symptom.
But I visit a neurologist regularly to make sure we spot the earliest signs. So far, I have the all-clear.
I’ve also found happiness with my partner Gus, 29, who I met last July. When I told him about my diagnosis he stopped me.
‘I already know, and it’s okay,’ he said.
He’d been told by a friend but waited patiently until I was ready to talk about it.
He’s wonderfully supportive and brings me so much happiness. I’m very grateful to have him in my life.
I don’t know if I’ll ever have children, but it’s now possible to screen embryos for Huntington’s.
As well as having a busy job organising events, I’m also a youth ambassador for Huntington’s NSW.
I want to spread the word and raise funds for research.
I’m hopeful a cure will be found in my lifetime and that other families won’t go through what we have.
But no matter what happens, I know Dad would be proud of me.
What is Huntington's Disease?
● Symptoms of the disease usually appear when sufferers are in their late 30s and early 40s.
● It’s caused by an inherited mutated gene, with all carriers going on to develop symptoms.
● Symptoms include difficulty moving, uncontrollable tics, depression, anxiety, paranoia, memory loss and psychosis.
● Death usually occurs 15 to 20 years after symptoms begin, with many sufferers requiring residential nursing care.
● There is a 50 per cent chance that a carrier will pass the gene to their child.
● For more information, see Huntington's NSW