CHARLOTTE Conn is just 27 years old, but she already knows what the future holds for her.
After watching three family members battle a rare brain disease, she was diagnosed with the same condition.
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His great-grandmother, grandmother and mother had Huntington’s disease, which prevents parts of the brain from functioning properly.
It worsens over time, with symptoms usually 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 mother Elaine waited two years before also getting tested – which came back positive.
When Lin passed away in 2021 after being unable to walk, talk, eat or drink, Charlotte finally resisted and got tested in early 2023.
While helping to care for her mother, she received the devastating news that she also has Huntington’s disease.
“I’m not a pessimistic person, but part of me knew I would be genetically positive – I’ve had a feeling for most of my adult life,” said Charlotte, an organizational development and human resources professional at the NHS.
“I felt quite numb, but I didn’t feel the emotions I imagined myself feeling in the decade leading up to my test.
“I told my dad and some friends that I was auditioning.
“I didn’t want people to know the outcome, I just wanted the chance to process things my own way.”
She went to the appointment with her fiancé, who started crying when he heard the news.
Charlotte, from Teesside, said: “I realized how affected my loved ones would be by the news that I would definitely develop Huntington’s disease.
“I suppose finding out that someone you care about is going to suffer unimaginably in life is a tough pill to swallow.
“When people ask me about that day, I always say that naturally you care more about others than yourself, so I became more worried about the people around me.”
I will never forget the scream my mother let out when I told her it was bad news
Charlotte Conn
Charlotte hadn’t told her mother she would be tested in advance to avoid the stress, but after returning from a charity climb of Kilimanjaro in February 2023 and discovering the heartbreaking news, she knew it was time to tell her.
“When I arrived at my mother’s house, my father informed her, about 10 minutes beforehand, that we would tell her the results of the genetic test.” she said.
“As soon as she opened the door, she knew.
“I will never forget the scream she let out when I said, ‘Mom, I’m so sorry, it’s bad news.’
“She apologized profusely, blaming herself for my fate, but she knew nothing about the illness in the family when I was conceived.
“My father also cried. He is such a positive person that he never let his mind wander to a world where my sister or I had Huntington’s disease.
“In that moment, I felt the world around him fall apart.”
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Her sister, Hannah, is 23 and hasn’t yet been tested, but was devastated to hear Charlotte’s result.
Charlotte said: “We saw my grandmother suffer in such an inhumane way and we are living the same nightmare again with my mother, the thought of me being in the same position broke her as well.”
She added that despite testing positive, she has no regrets about discovering her fate.
People often ask if I have any regrets, but in my opinion, knowledge is power and knowing my status allows me to participate in research, clinical trials and plan my future,” said Charlotte.
It wasn’t a decision Charlotte made lightly, and she was debating whether or not to find out her “genetic status” – which would reveal whether she is positive and will develop the disease, or negative and not – for the best part. of a decade.
‘VERY PERSONAL DECISION’
She said: “When I was 18 I thought I wanted to know and asked for a referral from my GP to the genetics team.
“During my first appointment, the counselor helped me realize that I wasn’t ready at 18 to find out.
“I was about to go to a local university to make sure I could still take care of my grandmother and mother and I was still figuring out who I was and what I wanted in my life.
“I continued to see the counselor once a year for seven years, going back and forth with the decision to get tested.
“I finally decided to wait until my grandmother passed away so I could emotionally give her my all.
“Testing is a very personal decision and only a small number of people affected by Huntington’s disease decide to have predictive genetic testing.”
Lin chose to get tested following the loss of her own mother – Charlotte’s great-grandmother – who was believed to have been misdiagnosed with dementia and Parkinson’s, with an autopsy identifying Huntington’s disease.
What is Huntington’s disease?
HUNTINGTON disease is rare, affecting around eight in every 100,000 people in the UK.
It prevents parts of the brain from working properly over time, which can affect movement and cognition.
Symptoms usually begin between the ages of 30 and 50, but can begin much earlier or later.
People with Huntington’s disease may notice:
- Difficulty concentrating and memory lapses
- Depression
- Stumbles and clumsiness
- Involuntary jerky or restless movements of the limbs and body
- Mood swings and personality changes (e.g., irritability or aggressive behavior)
- Problems swallowing, speaking and breathing
- Difficulty moving
Signs may be subtle at first, but full-time nursing care is necessary in the later stages.
Huntington’s disease is caused by a faulty gene that causes parts of the brain to gradually become damaged over time.
It’s inherited, so you’re generally only at risk of developing it if one of your parents has it or has it.
If one parent has the Huntington’s gene, there is a 50 percent chance that each of their children will develop the disease and pass it on to their children.
There is currently no cure, but medication and therapy can help reduce some of the symptoms.
Source: National Health Service
Charlotte said the discovery sent Lin “into a devastating spiral of mental health issues”.
She said: “She couldn’t cope with the fact that she had unknowingly put my mother and her two granddaughters at risk.
“We were his entire existence and his entire life revolved around us as his family.
“My mother waited a few years and found out I was positive in 2004, two days before my seventh birthday.
“It was another bombshell for the family, and our lives as we knew them changed forever.”
Charlotte was first told it could be hereditary four years later, when she was 11.
“I watched my grandmother get worse with each passing year,” she said.
“I understood that she was unwell, but not the extent of the severity of her condition.
“I vividly remember sharing the news I heard with a friend, on a field, when we were playing one night.
“I said, ‘The illness that makes my grandmother so different, my mother will be like that one day and Hannah and I could be like that too.’
“I remember not really understanding the magnitude of it all, but I gave it my all to be as considerate as possible to both of them.
“I didn’t tell any of my friends until I was 14, even then I told very few people because I didn’t know how to verbalize it.”
‘RAPID DECLINE’
Now, Charlotte is passionate about raising awareness about the cruel disease that has hit her family so hard.
As well as working with charities, she also helps look after her mother – which can involve anything from cooking and cleaning to attending appointments, managing finances, administering medication and activities.
Charlotte said: “She is my life and I really would do anything for her.
“His condition has declined rapidly over the past year; her swallowing has become very difficult and she is scheduled for surgery at the end of the year to have a PEG feeding tube placed in her stomach.
“I can’t even imagine how difficult it is for her, to have been a healthy, happy person with a thriving family and career, and to find out that your mother is terminally ill and so are you.
“She says the hardest aspect of her journey was finding out my result.
“Our journey is not easy, but we are so grateful for the bond we share as a family, the love we have for each other, and the time we have now.”
Tomorrow is never promised. Life should be measured by the quality of the years you have, not the quantity
Charlotte Conn
She added: “I am heavily involved in the Huntington community and have met families from all over the world online through sharing my story on social media.
“My dad and I have raised over £20,000 for Huntington’s disease charities over the years, with a number of challenges.
“I find great comfort in helping others, so I will continue to share my story until Huntington’s disease is a disease of the past, an effective treatment or cure is found, and people no longer suffer like they do now.
“Receiving my results made me see the beauty in life’s little moments and opened my eyes to the fragility of everyone’s time on earth.
“Tomorrow is never promised. I think life should be measured by the quality of the years you have, not the quantity, and that’s what I channel my energy toward.”
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This story originally appeared on The-sun.com read the full story
