CHARLOTTE Conn is just 27, but she already knows what the future is likely to hold for her.
After watching three family members battle a rare brain disease, she has now been diagnosed with the same condition.
Her great-grandmother, grandmother and mum all had Huntington’s disease, which stops parts of the brain from working properly.
It worsens over time, with symptoms typically developing between the ages of 30 and 50, and is usually fatal after a period of up to two decades.
After her grandmother Lin was diagnosed in 2002, her mum Elaine waited two years before also getting tested – which was positive.
When Lin passed away in 2021 after being unable to walk, talk, eat or drink, Charlotte finally bit the bullet and got tested herself in early 2023.
While helping care for her mum, she was given the devastating news that she also has Huntington’s.
“I’m not a pessimistic person but part of me knew I would be gene positive – I’d had a feeling most of my adult life,” Charlotte, an organisational development and human resources professional for the NHS, said.
“I felt quite numb but I didn’t feel the emotions I’d imagined myself feeling in the decade leading up to my test.
“I shared with my dad and a handful of friends I was getting the test.
“I didn’t want the expectation from people to know the outcome, I just wanted the chance to process things in my own way.”
She went to the appointment with her fiancé, who burst into tears upon hearing the news.
Charlotte, from Teesside, 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.
“When people ask me about that day, I always say naturally you care more about others than you do yourself, so I was more concerned about the people around me.”
I’ll never, ever forget the scream my mum let out when I told her it was bad news
Charlotte Conn
Charlotte hadn’t told her mum she was getting the test beforehand to save her the stress, but after returning from a charity Kilimanjaro climb in February 2023 and discovering the heartbreaking news, she knew it was time to tell her.
“When I arrived at my mum’s house, my dad had let her know about 10 minutes before that we were coming to tell them the outcome of genetic testing.” she said.
“As soon as she opened the door, she knew.
“I’ll never, ever forget the scream she let out when I said, ‘Mum I’m so sorry, it’s bad news’.
“She apologised profusely, blaming herself for my fate but she didn’t know anything of the disease in the family when I was conceived.
“My dad cried too. He’s such a positive person that he’d never let his mind wander to a world where me or my sister had Huntington’s disease.
“In that moment, I felt his world around him crumble.”
Her sister, Hannah, is 23 and hasn’t yet taken the test, but was devastated to learn of Charlotte’s result.
Charlotte said: “We watched my nan suffer so inhumanely and we are living the same nightmare again with mum, the thought of me being in the same position too broke her.”
She added that despite testing positive, she doesn’t regret finding out her fate.
People often ask if I regret it 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,” Charlotte said.
It wasn’t a decision Charlotte took lightly, and she had been debating whether or not to find out her ‘gene status’ – which would reveal whether she is positive and will develop the disease, or negative and will not – for the better part of a decade.
She said: “When I was 18, I thought I wanted to know and I asked for a referral from my GP to the genetics team.
“During my first appointment, the counsellor helped me realise I wasn’t ready at 18 to find out.
“I was about to go to a local university to ensure I could still care for my nan and mum and I was still figuring out who I was and what I wanted from my life.
“I continued to see the counsellor once a year for seven years, going back and forth with the decision on whether to test.
“I eventually decided to wait until my nan had passed, so I could emotionally give her my all.
“Testing is a very personal decision and only a small number of people impacted by Huntington’s decide to have predictive genetic testing.”
Lin had opted to get tested after the loss of her own mother – Charlotte’s great-grandmother – who is believed to have misdiagnosed with dementia and Parkinson’s, with a post-mortem identifying Huntington’s disease.
HUNTINGTON’S disease is rare, affecting about eight in every 100,000 people in the UK.
It stops parts of the brain working properly over time, which can impact movement and cognition.
Symptoms usually start between the ages of 30 and 50, but it can begin much earlier or later.
People with Huntington’s might notice:
Signs can be subtle at first, but full-time nursing care is needed in the later stages.
Huntington’s is caused by a faulty gene that results in parts of the brain becoming gradually damaged over time.
It is inherited, so you are usually only at risk of developing it if one of your parents has or had it.
If a parent has the Huntington’s gene, there’s a 50 per cent chance each of their children will develop the condition and pass it on to their kids.
There is currently no cure, but medication and therapy can help reduce some of the symptoms.
Source: NHS
Charlotte said finding out sent Lin “in a devastating spiral of poor mental health”.
She said: “She couldn’t cope with the fact she’d put my mum at risk unknowingly and her two granddaughters.
“We were her whole existence and her whole life revolved around us as her family.
“My mum waited a few years and found out she was positive in 2004, two days before my seventh birthday.
“It was another bombshell for the family, and our lives as we knew them were changed forever.”
Charlotte was first told it could be hereditary four years later, when she was 11.
“I had watched my nan become more unwell with every year pass,” she said.
“I understood she was poorly but not the extent to how serious her condition was.
“I vividly recall sharing the news I’d learned with one friend, on a field when we were playing out one night.
“I said, ‘The disease that makes my nan so different, my mum will be like that one day and me and Hannah might be too’.
“I remember me not really understanding the magnitude of it all but I gave my all to being as caring as possible for them both.
“I didn’t tell any of my friends until I was around 14, even then I told very few people because I didn’t know how to verbalise it.”
Now, Charlotte is passionate about raising awareness for the cruel disease that has so harshly affected her family.
As well as working with charities, she also helps care for her mum – which can involve anything from cooking and cleaning to attending appointments, financial management, administering medication and activities.
Charlotte said: “She’s my life and I would genuinely do anything for her.
“Her condition has declined quite rapidly over the last year; her swallowing has become very difficult and she is booked in for surgery later in the year to have a PEG feeding tube into her stomach.
“I can’t even imagine how hard it is for her, to have once been a healthy, happy individual with a family and a thriving career to find out your mum is terminally ill and you are too.
“She says the hardest aspect of her journey was finding out about my result.
“Our journey is not an easy one but we are so grateful for the bond we share as a family, the love we have for one another and the time we have now.”
Tomorrow is never promised. Life should be measured in the quality of the years you have, rather than the quantity
Charlotte Conn
She added: “I’m heavily involved in the Huntington’s community and have met families from all over the world online, through sharing my story in social media.
“Me and my dad have raised over £20,000 for Huntington’s disease charities between us over the years with various challenges.
“I find a lot of comfort in helping others, so I’ll keep sharing my story until Huntington’s is a disease of the past, an effective treatment or cure is found, and people don’t suffer like they do now.
“Receiving my results has made me see the beauty in the tiny moments in life, and opened my eyes to the fragility of everybody’s time on earth.
“Tomorrow is never promised. I think life should be measured in the quality of the years you have, rather than the quantity, and that’s what I channel my energy into.”
