Dina De Sousa, 58, watched her dad’s health decline over years while doctors didn’t pick up on the incurable degenerative brain disorder, which can cause loss of muscle control as well as a form of early onset dementia.
The mum-of-two was devastated when her father was diagnosed with Huntington’s in 2013. She was then dealt another blow when tests revealed she has the faulty gene and will go on to develop the same symptoms.
Now, she fears that her two sons will also inherit the genetic condition which she has described as “a thief” that robs people of their identity.
Huntington’s disease is caused by an inherited faulty gene that damages parts of the brain, leading to loss of control over movement and changes to thinking processes and mental health.
Around 1,100 people have the disease in Scotland and a further 4000 – 6000 are at risk of having inherited it from their parents.
Sufferers can lose the ability to walk, talk, eat, and end up needing round-the-clock care. Symptoms generally progress slowly over a long period of time.
Dina’s dad passed away aged 79, five years after being diagnosed. Dina said it was heartbreaking but she couldn’t talk about it at the time because of the stigma around the complex illness.
“Huntington’s disease is a thief that slowly steals your body, energy, health, family, friends and the person you used to be,” she said.
“My late father was diagnosed out of the blue which was a big shock to us all. He was misdiagnosed for years so we had no idea about our family history. At the time I thought it was amazing that we didn’t know but now I realise it’s a situation that is sadly all too common.
“I was tested soon after my dad’s diagnosis and the result came back positive for the faulty gene. From that moment, my outlook changed for myself and for our sons who we knew, for the first time, were also at risk.
“It’s an extremely complex disease that many people wouldn’t talk about. If it was in your family you didn’t tell anybody. There was a lot of stigma because, amongst many other symptoms, it leads to serious mental illness.”
Every child whose parent has Huntington’s disease has a 50/50 chance of inheriting the faulty gene, meaning they too will go on to have the disease.
Dina, a retired Edinburgh University researcher, now dedicates her time to raising awareness and helping families like her own get the right care and support.
For Huntington's Disease Awareness Month in May Dina dyed her hair blue and purple, the colours chosen to represent the global community affected by the condition.
Dina is also a Trustee of Scottish Huntington's Association, the only charity in the country dedicated to the care and support of families impacted by the condition.
She said: “I learned all I could about Huntington’s disease so I could advocate for families and patients, and raise awareness. I retired three years ago so I could focus on my health and do what I can for the Huntington’s community.”