A mother of three with Huntington’s disease, who is afraid she has only five years to live, has said she can’t remember giving birth to her children – and is terrified that they too will inherit the debilitating condition .
Charlotte Smith, 33, from Bugbrooke, Northamptonshire, was diagnosed with hereditary disease in August 2018.
She had had symptoms for 25 years – including memory loss, difficulty concentrating, clumsiness, mood swings, jerky movements, and difficulty swallowing – but had never heard of Huntington until her father was told he fought it in October 2017.
Given the severity of Charlotte’s condition and how quickly she’s deteriorating, she fears she won’t live to be over 40 and now plans to bring back as many memories as possible from her family.
Charlotte Smith, 33, of Bugbrooke, Northamptonshire, does not remember giving birth to her children (shown together) – and is terrified that they too will inherit Huntington’s disease
Charlotte has one GoFundMe page to raise money for a two-week bucket list vacation abroad with her nine-year-old partner Jon Orritt, 40, who takes care of her and works full-time with a bank and the kids.
Speaking to FEMAIL, Charlotte said, “I was not specifically told I have five years, but I have spoken to a specialist, plus my CAG count [how many times the Huntington’s gene repeats] and my rapid decline, especially with daily swallowing and choking, I have reason to believe this.
“There is no cure for HD and my body will deteriorate to the point where I will completely lose my body and coordination and need constant care.
“There are lifestyle changes to consider, and of course my end-of-life plan. I want to spend as much time as possible making memories for my kids so they see their mom in a good light, rather than the reality of how HD affects me and how it will affect me in the future. ‘
Charlotte set up a GoFundMe page to raise money for a two-week bucket list vacation abroad with her nine-year-old partner, Jon, 40, pictured together, who takes care of her and full-time at a bank, and the kids
Charlotte said she has always been forgetful and “doesn’t remember much about the past 25 years” – including the birth of her children.
“There are times when I feel guilty when the kids mention something from the past, and I can’t quite get into the conversation or share the feeling of what the moment was,” she admitted.
“This gives me grief and I can get quite short, but I try to deal with my emotions as best I can.”
Prior to her diagnosis, Charlotte said she would fall over a lot and often break things like cell phones.
Prior to her diagnosis, Charlotte said she would fall over a lot and often break things like cell phones
“I used to drive, but had constant accidents or pinched the curb while I blew out the tires,” she admitted.
“I also have jerky movements – I’m taking medication for this right now – and I’d spill or kick out drinks, whether I’m sleeping or sitting still. I also struggled to eat and choke certain foods, which scared my daughter. ‘
Charlotte shared how her father suffered many similar symptoms, but until his diagnosis was “in denial.”
“My grandfather died of the disease, but at the time it was very unheard of and he was misdiagnosed with Alzheimer’s disease,” she added.
“I recently discovered another family member who may have had the disease in my family that I’m not close to – they spent time in medical and mental settings because they showed signs of schizophrenia.
Given the severity of Charlotte’s condition and how quickly she’s deteriorating, she fears she won’t live to be over 40 and now plans to bring back as many memories as possible from her family
“The reason I see earlier in my life compared to my father’s is that my CAG count, the spectrum and severity of HD, is higher than his.”
Charlotte said knowing that she has Huntington’s disease has helped her process her condition. She explained, “I have stopped working, but I struggled to work before diagnosis because I couldn’t concentrate or because I was always very tired.
“For obvious reasons, I stopped driving because it was too dangerous to get behind the wheel, and I now spend my days at home enjoying the time I have with the kids.
Fortunately, I am entitled to healthcare providers who come in and help me, and I have medications that keep some symptoms at bay, such as depression, fatigue, and chorea, the jerky movements.
Charlotte has two sons – 12 and 11 years old – from a previous relationship and a seven-year-old daughter with Jon
“I have good days and bad days. I’m struggling to socialize and I’m not very good at leaving the house, so I’m limited to a familiar environment. My circle of friends is small because I often forget to make contact or feel uncomfortable asking the same questions. ‘
Last year, Charlotte made the difficult decision to have a belly pin fitted so she can be pumped to reduce her choking.
But while that ensures that she gets the nutrition she needs, which gives her more energy, she said it ultimately only slows her decline.
Charlotte has two sons – 12 and 11 years old – from a previous relationship and a seven-year-old daughter with Jon, who also has three children with an ex-partner. She said they are both concerned that her sons and their daughter are already starting to show some symptoms of Huntington’s disease.
She suspects that one of her boys is autistic because of his behavioral problems, while the other has anxiety problems. She added that their daughter is quite clumsy, although it could be a sign of her age.
Charlotte said knowing that she has Huntington’s disease has helped her cope with her condition, which she inherited from her father (photo right, with her children)
“I spoke to specialists and they came to the conclusion that unless there was something really bad about the kids, testing for HD would only put more pressure on the youngsters on the family, especially with all the adjustments we make for me,” Charlotte said.
“So unless things change, I’m glad they have their own tests when they are 18 years old. My kids all have a 50:50 chance.
“It’s a rollercoaster of emotions, but generally the kids are aware of my condition, but I’m not sure if they accepted it and what that means to them.
“They do get support from the HDA (Huntington’s Disease Association), who send representatives to their school to discuss my illness. I’m counting on them to bring me tea or food, and my oldest son can remind me to take my medicine. ‘
Charlotte, pictured with her kids, hopes her fundraising efforts will help them all take a two-week all-inclusive trip to Turkey in late September
Charlotte, photographed in a wheelchair, said she’s doing well with the current lock because she’s used to being at home a lot
Charlotte said she could handle the current lock because she’s home a lot anyway.
“I love that the kids are at my house, too,” she added. Jon does his best to teach them at home and has built up a routine of going to the shops once a week.
“I had to prevent my caregivers from entering, but luckily Jon can work from home.”
The couple who have been engaged can’t afford a vacation for several years, but Charlotte hopes her fundraising efforts will help them take a two-week all-inclusive trip to Turkey in late September.
“We used to be able to afford a week or a long weekend at the most, but the kids love swimming in the sea,” she said.
Go to https://www.gofundme.com/f/20kz1xgddc to donate
What is Huntington’s disease?
Huntington’s disease is a condition that causes parts of the brain to stop working properly over time. It is passed down (inherited) from someone’s parents.
It gradually gets worse over time and is usually fatal after a maximum of 20 years.
Symptoms usually start between the ages of 30 and 50, but can start much earlier or later.
Huntington’s disease symptoms can include: difficulty concentrating and memory loss; depression; tripping and clumsiness; involuntary jerks or restless movements of the limbs and body; mood swings and personality changes; trouble swallowing, speaking and breathing; difficult to move.
In the later stages of the condition, full-time nursing care is required. It is usually fatal about 15 to 20 years after symptoms start.
Huntington’s disease is caused by a defective gene that gradually damages parts of the brain over time.
You usually only risk developing it if one of your parents has or has had it. Both men and women can get it.
If a parent has the gene of HD, there is one:
1 in 2 (50%) chance that each of their children will develop the condition – affected children can also pass the gene on to children they have
Very occasionally it is possible to develop Huntington’s disease without having a history in your family. But this is usually only because one of your parents has never been diagnosed.
There is currently no cure for Huntington’s disease or any other way to prevent the disease from getting worse.
But treatment and support can help alleviate some of the problems it causes.