A COUPLE are heartbroken after doctors told them their six-year-old daughter has a rare ageing disorder and will not live past her teens – only to find out their unborn child has it as well.
Jodie and Luke Barden both carry the gene for Cockayne Syndrome, but only found out about Ella's condition recently after five years of tests.
The disorder affects one in 500,000 people, and sufferers have an average life expectancy of 12 years.
The symptoms include a failure to gain weight, an underdeveloped nervous system, small head size and extreme sensitivity to sunlight.
Jodie gave up her job as a graphic designer to look after her daughter, who cannot walk unaided and needs a wheelchair, and has also had to learn sign language.
"It was such a normal pregnancy and normal birth, it was all normal," said Jodie, 26, from Witham. "It was only after nine months that we realised she was not gaining any weight or height, she could not crawl and could only say 'ma and dadda'.
"Our lives were hospital appointments for five years, and still everything they tested for came back negative.
"When a geneticist at Great Ormond Street Hospital said it may be Cockayne Syndrome it was heartbreaking. I went back home and Googled it and unfortunately it was very fitting.
"It wasn't such a shock when they told me, I saw it coming, but after all my research I really did not want it to be that."
Jodie and her husband Luke, 27, also have a two-year-old son, Alex, who doesn't have the syndrome.
But when Jodie discovered she was pregnant, six months ago, they decided to get tested and discovered her unborn daughter also has the condition.
"I thought that because the condition was so rare, and also because I had a healthy baby, Luke, everything would be okay," said Jodie. "It was such a shock. It was unbelievable that this could happen again.
"We were not prepared for Ella, but at least this time we know how to bring up a baby with the syndrome."
Ella attends Southview School, a special school in Witham, which caters for her needs.
"We put her into a regular school for three months, but it was just not working. She could not last a full day," said Jodie.
"She absolutely loves it, and loves being around children with all kinds of disabilities who can understand her.
"Ella does not fully understand what is going on. I almost don't want her to know and we will come to that talk when we get to it. I cannot think about it, it is too upsetting. If I did I would just be a blubbering mess.
"I don't want to think about end of care plans and funeral arrangements. It is horrible.
"I have got to stay strong for my children."
Jodie and Luke joined support group Amy and Friends, where they heard about a young girl who reached 21 years old.
"When I heard this I thought there is hope, even though I know many don't make it into their 20s," she said. "Ella does not take medication, and has not shown any signs of deterioration so I am going to stay positive."