A woman who tested positive for the Huntington’s gene alongside her mother is “in shock” after doctors announced this week that the condition has been successfully treated for the first time.
The brain disease resembles a combination of dementia, Parkinson’s and motor neurone disease, but a new type of gene therapy given during brain surgery was found to slow the disease in 75% of patients tested.
Charlotte Spearing, 28, knows just how cruel it is, having lost her grandmother, Lin, and great-grandmother to it.
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After losing Lin in 2023, Charlotte decided to face her future head-on and get tested – and was given the devastating news that she is gene-positive – meaning she will develop Huntington’s.
She had since come to accept her fate, deciding to live life on her own terms and marry her partner, Mitch, recently – only to find out on her honeymoon this week that there is hope after all.
“I was on the last day of my honeymoon in Cyprus [when I heard the news] – I cried with joy,” Charlotte, from Teesside, North East England, told Need To Know.
“I’d come to terms with the fact me and my partner wouldn’t grow old together.
“We got married last week and even on our special day, we never knew this [treatment] could be a reality in my lifetime.”
Charlotte had just tied the knot with Mitch and the couple were enjoying a sunny break when she heard the news.
She said: “A lot of my friends were messaging me as they’d had the BBC News notification on their phones.
“I was in shock.
“We’ve never, ever had hope like this in the Huntington’s Disease community.
“We’ve had a lot of failed research and clinical trials over the last few years, and to have positive news is incredible.”
Charlotte has grown up far more aware of Huntington’s than most, watching her grandmother and great-grandmother succumb to it, and her mum, Elaine, has since been battling it.
The inherited condition worsens over time, with symptoms often developing between the ages of 30-50, and is usually fatal after a period of up to 20 years.
Charlotte decided to find out what lay in store for her, and Mitch, who was by her side when she received the results of her own gene test, burst into tears upon hearing the news.
She said: “It hit home just how affected my loved ones would be by the news I would definitely develop Huntington’s disease.
“I suppose to find out someone you care for is going to suffer unimaginably in their life is a difficult pill to swallow.”
But with the announcement this week, she has hope for her future.
Charlotte said: “Hope from this treatment is enough to relight our fire to keep pushing, to keep working towards a world where HD doesn’t cause as much destruction.
“Maybe I won’t have to worry about future children – conceived hopefully via IVF – experiencing all of the trauma and heartache me and my sister have, from watching our family suffer and also living at a 50/50 risk [of developing Huntington’s].
“To free my future children from that would be something I have only ever dreamt of.
“I just hope authorities who approve medications and procedures like this globally, don’t put barriers in place for it being accessible.
“It is a very expensive procedure but as an advocate, me and my friends from the community are willing to fight to make sure the slowing of the disease we’ve learnt about is a reality and not just a hope for people impacted.”
While treatment may be a “long way off” for Charlotte, she is thrilled to finally have some good news, after years of disappointment when trials and research had seemingly proven fruitless.
She added: “It’s world-changing that science has finally done it, after decades of efforts to try and treat the disease by slowing it down for the first time ever.
“This isn’t a cure but to give us more time is so amazing, as somebody living with the faulty gene that’s all I pray for everyday: more time.
“I am so grateful to science, to people in the field working tirelessly to change our worlds.
“My late nan would be so happy.”
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