A young woman with a rare inherited brain disease has been questioned about her mother and grandmother’s choice to conceive – explaining why she intends to also start a family one day.
Charlotte Spearing has watched her great-grandmother, her own grandmother, and now her mother battle Huntington’s Disease (HD) – a condition that stops parts of the brain from working properly over time.
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.
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After sharing her story on social media, the 29-year-old, from Teesside, north-east England, received comments questioning why people with Huntington’s would procreate, such as her grandmother and mother – something she describes as “quite ignorant”.
“I would choose this life over any life,” Charlotte, an Organisational Development and Human Resources Professional for the NHS, told Need To Know.
“I’ve done lots of things knowing I’m at risk of HD – I climbed Mount Kilimanjaro for Huntington’s Disease awareness, I’ve been all over the world, done a degree.
“If you said to me ‘You can go back and choose a different mum and dad so you can not have the HD gene’, would I say yes? Absolutely not.”
Charlotte explained that anybody with a parent with Huntington’s has a 50/50 chance of inheriting the disease – something that is confirmed during genetic testing.
For those who do not inherit it, they won’t develop symptoms and will not pass the gene on to their children.
But for those who do carry the disease, they run the risk of passing along the gene to their own offspring.
In Charlotte’s family, they first learned of HD when her great-grandmother suffered from symptoms, and Charlotte’s grandmother, Lin, was then diagnosed in 2002.
Two years later, her mother Elaine got tested and found she was positive for HD.
After Lin passed away in 2021 at the age of 72, Charlotte decided to get tested herself in early 2023.
While helping care for her mum, she was given the news that she also has Huntington’s.
When she delivered the news to her mum, she “let out a scream” and “apologised profusely”.
Charlotte isn’t yet experiencing confirmed symptoms, while her mother’s started in her late thirties.
She said: “People often ask if I regret it [finding out] but, in my opinion, knowledge is power and knowing my status allows me to take part in research, clinical trials and plan for my future.
“Nothing in life is ever a given.
“Nobody can say they are definitely going to wake up tomorrow.
“I know that’s a hard pill to swallow, but there are lots of different reasons people with HD have children.”
Her parents weren’t aware of HD when Charlotte was born in 1997, nor when her sister was born in 2000.
Her great-grandmother had been misdiagnosed with Parkinson’s disease and dementia, and it wasn’t until the post-mortem that the gene was found.
Charlotte said: “My mum did that [had children] unknowingly – she had every right to have a child, and me and my sister have both lived incredible lives.
“As much as a life impacted by HD is really hard – and I’ve experienced things that not many other twenty-somethings have, and supported family members through end of life and been a caregiver, and seen things that people shouldn’t see – I’ve also done incredible things because of the impact HD has had on my life.
“It’s pushed me to do things I might not have ever done.
“I’m incredibly resilient; it’s made me very empathetic to people in general, and I feel like it has given me a strength that I might never have had before.
“So even if my mum knew of my risk of HD, I wouldn’t be upset with her for having me.
“She’s amazing, and I’ve got such an amazing relationship with her.”
Charlotte said she also has friends whose parents did conceive them with the knowledge they would be at risk of HD.
She said: “My friends’ parents had them knowing that they might get Huntington’s Disease – but that they also might not.
“There’s a lot of science and really great research happening right now, and we’re praying that in the next five to 10 years that an effective treatment to slow the progression of the disease down is coming.”
Charlotte and her husband Mitch are planning for their own future family, and plan to have PGD IVF, which involves testing embryos for the HD gene to ensure she doesn’t carry the disease – a process funded by the NHS for three rounds due to her genetic status.
But she stands by the right of people with HD to have a child – whether knowingly or not.
She added: “When you choose to have a child, there’s no guarantee it is going to be healthy.
“Everyone having children naturally expects them to be healthy.
“Why does anyone have a child? That’s basically the answer.
“It’s important to take the time to educate yourself.”
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