An Edinburgh mum was given the devastating news she was carrying the same gene as her father shortly after he was diagnosed with Huntingdon's disease.
Dina De Sousa, 58, has shared fears that her two sons will also inherit the genetic condition after the diagnosis "changed her outlook" on life.
A retired Edinburgh University researcher, Dina had been told her father was suffering from Huntingdon's 14 years ago, after he had been misdiagnosed for years.
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A condition that affects both movement and mental health, those suffering from the disease can lose their ability to walk, talk and swallow themselves, with others experiencing depression, mood swings and even psychosis.
Speaking about her experience, Dina was told that the child of every person with Huntingdon's has a 50 per cent chance of inheriting it.
She said: “My late father was diagnosed out of the blue 14 years ago, 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.
"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.”
Now desperate to share awareness about the condition as well as help all those who suffer from it have the correct care and support in place.
In honour of Huntington’s Disease Awareness Month, on Sunday Dina dyed her hair blue and purple the colours chosen to represent the global Huntington’s disease community.
She hopes the dramatic new look will help to spark conversations and raise awareness about the disease, which devastates so many families, including her own, across the generations.
Dina added: “Huntington’s disease is a thief that slowly steals your body, energy, health, family, friends and the person you used to be.
“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.”
Many families believe their loved one with the disease has been wrongly accused of being drunk or on drugs, while others say they feel isolated in their own communities.
As the disease progresses, 24-hour care can become necessary, meaning people are no longer able to live in their family home.
Taking part in groups and discussions all over the globe, Dina is also now a Trustee of Scottish Huntington’s Association, the only charity in the country dedicated exclusively to the care and support of families impacted by Huntington’s disease.
The mum-of-two said: “Over the years, Scottish Huntington’s Association has grown its services in response to the needs of families. Founded by families for families, it is now recognised as being one of the best Huntington’s disease associations in the world,” said Dina.
“But there is a lot more we need to do. We want every family, regardless of where they live in Scotland, to have the specialised care and support they need to cope with this dreadful disease, not just for people who have the disease but also for family members who care for a loved one and those who are at risk.”
To find out more about Huntington’s disease and the work of Scottish Huntington’s Association, visit hdscotland.org
