June 16, 2021
Hi everyone, I’m Angela. I’ve created this video as part of Huntington’s disease awareness month. Huntington’s disease is a brain disorder caused by a defective gene in the DNA instructions called huntingtin which causes nerve cells in the brain to break down over time and deteriorates a person’s physical, mental, and emotional abilities. All children born from a parent with HD has a fixed 50% chance of it being inherited. Most people begin developing symptoms between the ages of 30 to 50, but it can also occur for children, known as Juvenile Huntingtons Disease. Huntington’s disease is commonly referred to as HD.
My HD story starts with my grandad and his family. It’s believed my grandad inherited HD from his father (my great grandfather), although we never actually knew this at the time as he passed away before any symptoms arose. In the 1980’s, my grandad’s brother became symptomatic and was the first person in my family to do so. By the 1990’s, my grandfather and his sister developed symptoms as well. At this time, my family and parents learnt about HD and understood that my mum and her siblings were at risk.
As a young girl, I thought my grandad was sick due to his age until my parents explained what HD is to me. While I was still young, I watched my grandad’s health decline to the point where he had trouble with everyday life. He eventually moved into a nursing home to receive full time care and passed away a few years later. While my family was grieving the loss of my grandfather, my mum’s hands shaking uncontrollably, a common sign of HD. She completed a physical examination in Brisbane with a specialist shortly after and they confirmed that she had HD, although she was never genetically tested.
By age 47, my mum could no longer drive but remained fully independent for an additional two years until she moved into a community home where she would live in a unit semi-independently. Over the following years, mum’s physical and emotional abilities declined; she became depressed and had a hard time walking on her own. She started having trouble eating, speaking, and would often lose her balance and fall. While it was a difficult decision, she moved into a nursing home to receive full time care. This was relieving for me as I was a full-time university student and working part time so I couldn’t provide the care mum needed.
In the course of mere months, mum essentially lost all mobility and was bound to her wheelchair or bed. It was difficult to talk to her as her responses were delayed or never came at all. At the end of her life, she was no longer able to keep water or food down. She passed away at the age of 57 in 2019. Although this was a gut wrenching and traumatising experience for me, I know that my mum is at peace and is no longer in pain.
Before I share my testing process, please keep in mind that its unique to my personal experience. If you are thinking of getting tested, please reach out to a genetic councillor, your local HD charity, and your support system. Please also consider if you need to seek independent legal or financial advice beforehand.
In Australia, you generally need to be 18 with a blood relative who has been diagnosed with HD to be genetically tested. This age limitation exists as people seeking testing need mental and emotional maturity to fully understand the significance of the testing process and what comes afterwards. I was a young child when I was told about my family history with HD, and I saw how it changed my family, myself, and my mum’s care requirements. The experience inspired me to start searching researching HD online and listening to other’s stories.
Outside of the family history, I considered being genetically tested to give myself clarity for any future career goals, financial preparation, or family planning needed. If I develop symptoms, I may need to retire earlier than other people and that plus any additional care requirements affects what savings will be needed, so goals would need to be set sooner rather than later. I also mentioned earlier that HD has a 50% inheritance rate, so if I was to be gene positive, I may explore IVF and/or prenatal genetic testing options and the costs involved with that to avoid passing HD onto children I may have. After considering what effects HD may have on my future and the planning required, I made the decision to start my testing process shortly after I turned 18.
I first booked an appointment with my local GP who was able to refer me to genetic health Queensland. Following was an over the phone discussion with a genetic counsellor regarding my connection to HD, why I wanted to be tested, and the testing process itself. Part of the testing process included mandatory appointments with a psychologist which forms the mental preparation I mentioned earlier. For the genetic testing itself, all that was required of me was a simple blood sample which was done at the local hospital.
When the testing was completed, a video conference was arranged at the local hospital since I was living at a significant distance from Brisbane where the specialists were located at time. My boyfriend, later to be husband, and my dad attended this appointment to support me. In the meeting, I was told that my CAG repeats, a measure of how many times the CAG portion of the HD strand of DNA repeats, was over 40 and so I am both carrying HD and will develop symptoms at some point in my life. Even with all of the preparation, I still went into major shock. My body went numb, and I felt horrendously sick, but mainly just wanted to go home and cry.
The next few weeks were difficult, however what was extremely helpful was my family and friends reaching out with empathy, care, and compassion. I’ve been really fortunate to have a large support system I can rely on and I’ve been able to stay in contact with my psychologist. Now years have passed, and I don’t let HD stand in the way of my life. Through all of the negative HD brings to a person’s life, it’s important to cherish and reflect back on the good times in-between. Even with all of the prayers and hope for a cure, slowly watching my mum’s health fail broke my heart. But it’s the little moments and memories that make everything worthwhile.
Since testing gene positive, HD has changed my view on life, where I’m now able to see a hopeful aspect in almost every situation. I know that I’ve been incredibly lucky to have the option to be tested and plan ahead as this was not possible before 1993, and even today, technology and resources are advancing rapidly so we may even have a cure for HD in my lifetime. I’ve also been blessed with amazing friendships with other young people both in Australia and around the world who are part of the HD community. This has helped me create deeper connections to my mum’s life by helping share awareness and by sharing our story.
Before my mum was symptomatic, she volunteered for charities and cared for my family. She would often take my brother and I to sport and music lessons while working endlessly on crossword puzzles. I still remember in primary school; my mum would attend every single assembly. She would also walk us home every day afterwards. Even when mum started having trouble walking, I would drive her to our local park where we would have a picnic together. Even in her late stages, I’d show her photos of what I’ve been doing while playing scrabble or watching movies together. Every time I visited her in the nursing home, she would have her nails painted a new flashy colour or be eating ice cream on the veranda watching the sunset. Although my mum is now gone, I still cherish and hold onto these memories.