Twins, 17 months old, are the first in Britain who are both diagnosed with an incurable brain disease
Identical baby twins are the first in Britain who are both diagnosed with incurable brain disease – the same who killed Coleen Rooney’s sister in 2013, 14 years old.
Amelia and Ruby Sampson have Rett Syndrome, which is getting worse and robs them of the ability to talk or move freely, cause breathing and sleeping problems, and disrupts brain development.
Heart broken parents Katie and Pete Sampson, from Birmingham, don’t know what the future holds for their 17-month-old daughters.
New mother, Mrs. Sampson, said the idea that she would not see her daughters grow up is complicated.
The girls may not reach adulthood, as figures show that only half of the women with the syndrome reach the age of 50.
Although many people with Rett become adults, some people die at a relatively young age due to complications such as cardiac arrhythmias, pneumonia and epilepsy.
Rett claimed the life of the sister of Wayne Rooney’s wife Rosie McLoughin at the age of 14 after fighting her entire life with the syndrome.
Katie and Pete Sampson, from Birmingham, don’t know what the future holds for their identical 17-month-old girls (all pictured) who have been diagnosed with an incurable brain disorder
Amelia (left) and Ruby (right). The couple may not reach maturity after showing the worrying features of Rett syndrome, which was diagnosed shortly thereafter
Rett claimed the life of 14-year-old sister Rosie McLoughin from Coleen Rooney
Rosie McLoughin died in 2013, 14 years old after fighting her entire life with Rett syndrome. Rosie is sitting on mother Colette McLoughlin’s knee while the couple is smiling
Mrs. Sampson, turning 30 tomorrow morning, said: “When they were diagnosed, I screamed and cried and said to my husband,” Why does this happen to us? “
Charity Rett UK said it is “very unusual” for identical twins to have both the degenerative disease.
The Rett syndrome hardly exists in men and affects only one in 12,000 girls a year.
It deprives children of the ability to walk and talk – even if they have already learned that.
Sufferers can reach their 40th. But complications such as epilepsy drastically reduce life expectancy.
Amelia was first diagnosed in November before her sister was diagnosed only two months later.
“We were completely broken,” the girl’s mother said. “I can’t even explain how we felt today.
The girls were born on September 7, 2018, but the parents soon noticed abnormalities in Amelia. She was limp, struggling to hold her head up, and had much more delay than Ruby
“It is terrible to think that they are some of the only twins in the world who are unlucky to have it. They may not make it.
“I’ve heard of cases where children have lost their lives at the age of nine, so we don’t know how long we’ll have them.”
Mrs. Sampson and her husband, 34, have wanted children since they started dating seven years ago.
They made the knot in 2017 and Mrs. Sampson became pregnant shortly thereafter.
She remembered: “I was crying out with happiness when I was told that we had twins.
“My husband just said” oh my god “and we were absolutely delighted. Pete grinned enormously and we were both so excited. “
The girls were born on September 7, 2018, but the parents soon noticed abnormalities in Amelia.
She was limp, had trouble holding her head up, and had much more delay than her sister Ruby, her mother said.
In June last year, Amelia had her first of many attacks – a common feature of Rett patients. She now has them daily.
Scans in October showed that Amelia’s oxygen level deteriorated, but doctors were still unsure why.
She spent 77 days at the Children’s Hospital in Birmingham and ended up in intensive care.
Mrs. Sampson said, “I started talking to the neurologist about Amelia’s future with epileptic seizures, and she actually said she might not reach adulthood.
“My husband wasn’t here and I had to tell him by phone that our daughter might not make it.”
In June last year, Amelia had her first of many attacks – a common feature of Rett patients. She now has them daily
“It is terrible to think that they are some of the only twins in the world who are unlucky to have it. They may not make it, “Mrs. Sampson said of her baby daughters
A month later, it was confirmed that Amelia had Rett syndrome.
Because it is a genetic disease, their other daughter – who showed no signs of disease – was also tested.
The results came back in January and revealed the worst – Ruby also had Rett syndrome.
She has not shown any signs of regression yet, but it is likely to happen from the age of 18 – only a month away.
The parents have now learned to care for Amelia, who needs constant treatment at home.
Former IT consultant Mrs. Sampson is now a full-time caregiver for the girls and is dependent on Universal Credit after she left her job.
Mr Sampson is shifting extra services as a route planner to put food on the table.
They want to know what the future holds in store for their girls and knew that the Coleen family had the same devastating blow.
Rosie was the head bridesmaid at the Italian wedding of Coleen and Wayne in 2008.
Coleen idolized her adopted younger sister and was destroyed after her death seven years ago.
The wife of England’s first-ever scorer was on holiday in Barbados when her sister’s condition deteriorated. She flew home to be with Rosie in her final days.
Rosie was only 14 when she died, and last month Coleen wrote on Instagram about the anniversary: ”In our minds forever. I love you Rosie. “
The parents have now learned to take care of Amelia (photo) – which requires constant treatment – at home. Ruby has not shown any signs of regression yet, but this is likely to happen from when she is 18 months old – only a month away
Mrs. Sampson is now fundraising for two eye pads to enable her dear daughters to ever communicate.
The syndrome means that children need constant help with communication, as well as with breathing and eating.
The technology – which can cost up to £ 10,000 each – uses a computer mouse that you can operate with your eyes.
Mrs. Sampson said: “Because Rett influences their hands, they cannot function and they will not be able to learn sign language. It will be a way for them to talk to us.
“I don’t want to take things for them, I want them to be able to tell us what they want. Everyone should have a voice. “
The Rett syndrome is currently not curable, but Mrs. Sampson said she will never stop fighting until one is found.
Former IT consultant Katie is now a full-time caregiver for the girls and is dependent on Universal Credit after she left her job
Despite a difficult start of parenthood, Mrs. Sampson already has memories that she will cherish forever.
She said, “Amelia had her first giggle on Christmas Day that was beautiful.
‘We rarely get a smile from her, let alone a giggle. I asked her to tickle and she usually never responds. But she loves her hugs and is a happy little girl.
“Ruby is really cheeky. She laughs, eats everything and grabs for everything and she is already very outgoing and knows her own mind.
“The twins are very close. Amelia does not overreact to her, but Ruby always tries to touch her. She absolutely loves her sister. “
A spokesperson for Rett UK said: ‘It is certainly very unusual to have twins with the disorder and clearly very difficult for the family to understand and deal with.
“There are different twins, not identical, one of which is affected.
“Rett syndrome is a particularly disturbing disorder because parents are lulled into a false sense of security, think they have completely ‘normal’ children, and then slowly and tastelessly they begin to lose important skills by walking, talking and feeding themselves .
“This is called the regression. This normally happens in the second year of life, but for those who are hit harder, this can happen much earlier.
“But that’s just the beginning. There are several comorbidities that occur with Rett syndrome – and they occur after regression – usually epilepsy, respiratory problems, scoliosis, dystonia, bowel and bowel problems to name just a few.
“With a lot of support, people with Rett syndrome can learn to communicate using alternative methods, including the use of eye-viewing technology.”
WHAT IS RETT SYNDROME? THE NEUROLOGICAL DISPLAY THAT CHILDREN DON’T LET CHILDREN SPEAK, EAT, WALK, TALK AND BREATH
One child out of 12,000 is born with Rett syndrome, but few people have heard of it.
The genetic disorder affects women almost exclusively, causing them to decline neurologically and physically.
The progression of the disease can be broadly divided into four phases.
During the first phase, around the age of six to 18 months, a baby slows down in development, loses interest in play, stops making eye contact, starts walking awkwardly, and makes repeated hand movements.
The second phase, known as “rapid destruction,” begins between the ages of one to four.
The child finds it increasingly difficult to communicate and learn and there is often a deterioration of other brain functions.
Symptoms include inability to control hands, sudden distress in combination with screaming, instability, breathing problems, sleeping problems, slow head growth and digestive problems.
The third phase, the ‘plateau’, starts between the ages of three and ten.
Limbs become limp, epilepsy can develop and weight loss and teeth grinding can occur.
However, many parents say that children are less concerned and show more interest in their environment.
The final phase can last for decades. Usually a severe flexion of the spine – scoliosis – develops and loses the ability to walk.
Almost all cases are caused by a mutation in the MECP2 gene that prevents nerve cells in the brain from functioning properly.
Currently there is no cure and only the symptoms are treated. Sufferers can live until they reach 40, but most die before 25.