Daughter, 32, about Mother Huntington’s disease … as she discovers, she also carries the mutated gene
A newlywed who was motivated to be tested for Huntington’s disease because she dreamed of starting a family has discovered that she will develop the incurable brain disease.
Danielle, 32, whose surname was not disclosed, was filmed by the BBC while she traveled to London to be tested for the mutated gene that causes this brain cells to die gradually.
Her mother Lisa was diagnosed 18 years ago and now needs care 24 hours a day because she has lost the ability to talk or eat independently.
The newlywed said that the thought of having children had motivated her to take the test and explained: “I got married this year. Maybe we want to start a family in the future, so that I not only want to know, but really pushed forward and got the ball rolling. ”
Danielle’s tests came back positive from the tests, which means that within the next 10 years she will begin to develop symptoms of the incurable condition.
Danielle, 32, whose last name was not disclosed, opened to the BBC about being tested for H Huntington’s disease, which she had a 50 percent chance of inheriting from her mother Lisa (pictured together)
Those who have a family member with the condition can be tested from the age of 18, with Danielle revealing that she had always wanted to make a decision to find out by the age of 30.
Danielle, who owns a buzzing cafe, traveled to London to be tested for the mutated gene, which would slowly lose her ability to think, walk and eat in the next 30 years.
Her sister Sophie, who also had a 50 percent chance of developing the disease, said she was determined not to be tested.
Danielle said to her sister, “I’ve always wanted to know and you never wanted to know.”
Danielle traveled to London to be tested for the mutated gene, causing her to slowly lose her ability to think, walk and eat over the next 30 years (pictured with her sister Sophie who decided not to be tested for the disease)
Sophie explained: “I feel that if I tested positive, I would have a dark cloud over me.”
Months after getting married and with the idea of having children in the future, Danielle decided to go through the process alone.
Speaking of her sister’s choice, she said: ‘We have always respected each other’s decisions. I said I’d make a decision by the time I was 30, and if Sophie didn’t want to, I’d do the trip alone. ”
Danielle revealed that her mother discovered her illness after she started to struggle with her balance and had aggressive outbursts.
What is Huntington’s Disease?
Huntington’s disease is a condition whereby parts of the brain no longer function properly over time. It is passed on (inherited) from the parents of a person.
Over time, it gradually gets worse and is usually fatal after a period of up to 20 years.
Symptoms usually start at the age of 30 to 50 years, but can begin much earlier or later.
Symptoms of Huntington’s disease can include: concentration problems and memory loss; depression; stumbling and awkwardness; involuntary jerking or restless movements of the limbs and body; mood changes and personality changes; problems swallowing, speaking and breathing; difficulty moving.
Full-time nursing care is needed in the later stages of the condition. It is usually fatal about 15 to 20 years after the symptoms begin.
Huntington’s disease is caused by a defective gene that causes parts of the brain to be gradually damaged over time.
You usually only run the risk of developing it if one of your parents has or had it. Both men and women can get it.
If a parent has the HD gene, there is one:
1 in 2 (50%) chance of each of their children developing 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 of it 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 a way to prevent it from getting worse.
But treatment and support can help reduce some of the problems it causes.
She continued: “People have generally never heard of Huntington’s disease. My mother was diagnosed 18 years ago.
“She didn’t know Huntington’s disease was in her family. Me and my sister were not informed in the beginning because mom and dad didn’t really understand what the situation was.
“It was very difficult for me and my sister to find out. I think I heard a phone call my mother had with a friend, and then I told my sister. “
She added that she was embarrassed in her youth to introduce her mother to her friends.
The newlywed said she was struggling to grow up while seeing her mother’s health deteriorate with the disease
“I didn’t know what Mama was going to be or if she would have an outbreak,” she said.
Danielle continued to give counseling sessions at Great Ormond Street Hospital, which is mandatory for anyone being tested for the HD gene.
For her first session, she said, “I thought I felt good, but when I went to bed last night, a lot of things started to play in my mind, but I feel good and excited to start the process now. “
And then she added that she was still determined in her decision to be tested when she revealed herself about her mother.
Danielle shared an old family photo and revealed that her mother began to have “aggressive outbursts” and was “really anxious” before being diagnosed (photo, with her sister Sophie and her mother)
Danielle revealed: ‘My mother used to have really aggressive outbursts. She would be really anxious and tense.
“She stumbled around a lot and looked like she was drunk. She broke her arm earlier and fell on her head. “
She described the disease herself and said: “The brain cells break down gradually and it affects everything.
‘Your cognition, speaking, eating and daily life. In later phases, such as what Mama is now, she needs help with everything. “
While Danielle was determined to know if she would develop the incurable disease, her sister Sophie decided not to be tested
On the day of her blood test for the condition, Danielle kept a positive outlook, despite the fact that “she didn’t get much sleep last night.”
But in a video she filmed on her phone the next day, she revealed that the test had taken more toll than she wanted to admit.
She said, “I was supposed to go out last night for a friend’s birthday, and I didn’t because I just couldn’t face talking about it.”
“I just felt a bit down. I wish people knew how bad this situation is. “
Danielle’s mother, who is in the late stages of the disease, needs care and assistance around the clock to move, eat and speak
On the day of the results, she filmed herself admitting her stomach “did somersaults,” but she “felt good” and “just wanted to know.”
She said: ‘It’s a flip of the coin heads or tails and it’s just the chances I got and it’s just crazy.
“There are many people who are in the same position as me. I’ve always wanted to know, so today is that day for me. “
It was later revealed that Danielle tested positive for the disease, but that it may have only started to show symptoms for 10 years.