pregnancy

"We were in shock." Charlotte was 10 weeks pregnant when she found out she had a fatal genetic disease.

When Charlotte and her partner Jake fell pregnant with their first child together, they couldn’t wait to welcome their little boy into the world.

Charlotte, who also has two young daughters from a previous relationship, was over the moon.

But at just six weeks, Charlotte and her partner received news that changed everything.

Charlotte’s father had tested positive for Huntington’s disease – a genetic progressive neurodegenerative disease.

The news came as a shock.

For most of her life, Charlotte – and her siblings – were under the impression that their father was an anomaly.

 

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Although the disease affected a number of people in Charlotte’s extended paternal family, including her great grandfather and her uncle, she never imagined that it could affect her own father.

“No part of me thought it was possible that he would have it, because my parents have always said that [he wouldn’t],” Charlotte told Mamamia.

“But when he went in [for testing] and they didn’t contact me straight away, I just knew that he had it,” the 24-year-old added.

“They told us and we were just completely devastated and in shock, I think, more than anything.”

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Facing a progressive neurodegenerative disease, while raising two young children and pregnant with a third, is an unfathomable situation for many to comprehend.

But for Charlotte, this was her new reality.

As Huntington’s disease is inherited – meaning it is passed down from parent to child – Charlotte’s father’s diagnosis meant that there was a 50 per cent chance that she would also have the disease.

There was also a 50 per cent chance that her children – three-year-old Eliza and two-year-old Evelyn – as well as her baby on the way, could also inherit the disease.

 

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What is Huntington’s disease?

Huntington’s disease is not evident at birth.

In fact, symptoms do not normally appear until a person is between 35 and 55 years old.

For individuals with Huntington’s disease, there is no confirmed order for the onset of symptoms as each individual experiences the disease differently.

The condition is progressive, meaning the symptoms, which are physical, cognitive and emotional, worsen over time.

During the course of the disease, people with Huntington’s disease may experience symptoms including uncontrollable jerking movements, muscle problems, impaired posture and balance, walking difficulties, and problems with speech and swallowing. It also affects cognitive ability including memory, planning, judgement and lack of awareness.

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From the onset of symptoms, the life expectancy for people with Huntington’s disease can range from 10 to 25 years. There is currently no cure.

Charlotte’s diagnosis

After learning about her father’s condition, Charlotte decided to get tested.

“At that point, we weren’t sure if we were going to continue with the pregnancy because we were just beside ourselves that there was a possibility that I had this horrific disease that’s wiping out my whole family,” Charlotte said.

“They fast tracked my test results and when I was about 10 weeks pregnant, I learned that I did have the disease as well. Now the child I was pregnant with and my two older children were at risk,” she added.

“I was in a bit of shock at first – I didn’t really cry and I couldn’t sleep at night.”

 

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Although Charlotte and her now-fiancé were initially worried about the possibility of passing on the gene to their son, they decided to go through with the pregnancy and five months ago, Alfred was born.

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“It’s a very personal thing,” Charlotte said, of their decision to continue with the pregnancy.

“But for us, we just thought, I already have two daughters who are at risk and we just have to be hopeful for the future that they’re going to make a breakthrough and that they’ll find something for this.”

Along the way, Charlotte’s fiancé Jake has been “really supportive”.

“He’s such a great guy. He was like, you know what, we’re just going to deal with this day by day,” Charlotte said.

“Obviously, he’s devastated with this being his first child as well who is now at risk. It’s not the normal thing you have hanging over your head with the joy of a first child. But it’s just something that we have had to deal with.”

Having a disease that could present itself at any time is challenging to deal with – especially as a mother to three young children under three.

“It does definitely play on my mind. You don’t know if it’s going to set in in five years time or in 15 years time – so there’s that uncertainty to deal with,” she said.

“I don’t know whether I will be able to be there for my kid’s school events or 18th birthdays or if I’ll even be around then. I probably won’t be able to look after my grandchildren,” she added.

“I worry about what I have done to them. I worry about them watching me deteriorate right before their eyes and watching all of their family members slowly lose everything that makes them who they are.”

But despite the challenges that come with Huntington’s disease, Charlotte and her family are keeping positive.

“I try my very best to be present with my children,” Charlotte said.

“I am lucky I know this early and that I have time with them. So many others do not get time to say goodbye to their loved ones. We focus on making special memories with the kids and not sweating the small stuff,” she added.

“It has made me truly grateful for lots of things. Our family is so strong – and this won’t break us.”

 

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Although Charlotte’s condition is still pre-symptomatic, her family have already begun to prepare for when her condition will worsen.

“We’re planning for the future when my partner has to become a carer for me. He’s working away from us because we need to earn more money so that when he does have to care for me full time, he’ll be able to do that for the family,” Charlotte explained.

“There’s also the potential of having to care for three of his children as well – and outliving his children, if they do have it. We’ve just got to take it day by day.”

Currently, in Australia, over 1,800 people have Huntington’s disease and 9,000 are at risk.

After being tested positive for the condition, Charlotte has found that awareness around the disease is low.

“Even when I told my friends that I was getting tested for it, they asked me: ‘What is that?'” Charlotte said.

“It’s so isolating in the fact that not many people know about it.”

Now, she uses her Instagram account to spread awareness about the disease.

“I just feel like I need to share how it affects people and how it affects families,” she explained.

“We don’t only face losing one family member, we face a huge amount of pain over decades losing people to this terrible disease,” she added.

“Watching someone degenerate knowing that will also be your fate is a hard pill to swallow.”

You can follow Charlotte’s Huntington’s disease journey on Instagram: @thehdmumma

To find out more about Huntington’s disease, visit the Australian Huntington’s Disease Association. 

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