A mum is sharing her daughter’s life-limiting condition in a bid to raise awareness – especially as she is the only known case in the UK with this combination.
When Lorraine Wilson fell pregnant with her third child, she was overjoyed.
But then, she suffered every parent’s worst nightmare.
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The 45-year-old, from Harlow, Essex, was left “devastated” as doctors revealed during the 22-week scan that her baby had developed Ebstein’s anomaly, a rare heart disease.
It’s believed her tot, Jasmin, is the only person in the UK with a combination of the disorder and Down’s syndrome – with four others in the US – and according to eMedicineHealth, the average life expectancy is up to 30 years.
Now, the mum is sharing her daughter’s journey in a bid to raise awareness – and to find others like her.
“I felt panicked when they told me the news,” the full-time carer told Need To Know.
“As I was only 22 weeks pregnant, there was no telling the extent of her condition.
“The doctor said there was a high chance she would be born with Down’s syndrome, too, and asked if I wanted a termination.
“I knew I couldn’t do that though.
“I’d love her no matter what.
“But I was scared and felt sick to my stomach.
“I just felt numb.
“The real blow came when she was six years old and her heart consultant told us the news that we’d be lucky if she made it to early adulthood.
“I was crushed.
“I couldn’t face losing my little girl, especially so soon.
“I try not to think about it [too much] but when I do, I can’t seem to breathe.
“It feels like the room is closing in on me.
“I lost my mum [this year] and I have asked if her ashes can go with hers.
“She’s only 10, I shouldn’t be thinking like this.”
Ebstein’s anomaly is a rare congenital heart disease, where the valve on the right side of the heart, which separates the right atrium and right ventricle, doesn’t develop properly.
As a result, blood flows the wrong way within the heart.
When it was confirmed her little tot had Down’s syndrome, Lorriane tried to remain optimistic – despite the high chance her pregnancy wouldn’t make it to full term.
In February 2014, Jasmin entered the world and was whisked away immediately for testing, as well as having a feeding tube fitted.
But while the mum was eager to embrace newborn life, there was more bad news.
She said: “At only 13 weeks old, she needed to have emergency heart surgery to put a stitch in her valve.
“There was a leak, and this aimed to slow this down.
“Without it, she wouldn’t have survived much longer.
“Over the next few years, she was in and out of hospital with infections, where I feared losing her each time.
“Her body was so weak.
“In spite of it all, she remained happy and cheeky, trying to join in with everyone at school.
“Then two years ago, I was told Jasmin was in heart failure and needed to have an operation to allow it to function again.
“Six months ago, she went through this and doctors said it would take a year for her to bounce back.
“When we went for our check up recently, they couldn’t believe how quickly she had recovered; something they have never seen in an Ebstein’s patient before.
“Maybe this is because she has Down’s syndrome – if anything, I think having this [too] has made her stronger.”
As little is known about her condition, there is no cure or treatment available.
Lorraine, who is trying to remain positive, is doing all she can to ensure Jasmin lives life to the full before her time is up.
She hopes to share her story to raise awareness and in the hopes of finding other cases, like hers, in the UK.
For now, the family are working with charity Upwards with Downs, which focuses on activities and services for those in the Essex area with the condition.
The mum added: “I want to give my little girl the best last years of her life.
“I’m trying to find other parents, as it can get very lonely not having anybody else to speak to about this, who knows what we’re going through.
“Recently, I took Jasmin to Thorpe Park and she loved going on all the rides.
“She’s so adventurous and tries to not let anything get in her way.
“Jasmin has so many things against her, but she keeps going.
“It’s been tough explaining to her why she can’t do a full day at school, as she tires easily, but all my energy is going into keeping her safe and happy.
“I’ll do everything in my power to fill her days with joy – even if we don’t know how many we have left together.”
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