Loving hugs tragically lead to the death of baby James –

Like any new mom, Susie Thorndyke was proud to show her baby her baby and gave it to friends and family to cuddle.

James was born healthy, weighing 8 pounds 8 ounces, on February 23, 2016, and showed no signs of illness. “Everyone noticed what a beautiful baby she is,” says Susie.

But two months later, Susie learned that these hugs had done irreparable damage to her son’s tiny body.

James had a rare genetic disorder called severe combined immunodeficiency (SCID). In fact, he was born without an immune system, making the milder cold potentially deadly.

If diagnosed at birth, babies with SCID can be kept in isolation until they’re ready for a bone marrow transplant, giving them a healthy new immune system.

With this treatment, 90 percent of so-called “bubble babies” will lead normal, healthy lives, said Bobby Gaspar, professor emeritus of pediatric immunology at University College London.

But a catalog of misdiagnoses and delays meant it was too late when James was diagnosed. He died five days before his first birthday.

“Because he wasn’t diagnosed right away, anyone who saw James made him feel worse: The bugs, which were harmless to most children, turned out to be deadly,” says Susie, 38.

For Susie and Justin, 45, a farmer from Norwich, their ordeal is exacerbated by the fact that James’ death was preventable – there is a £2.50 test that could control the situation.

SCID is screened at birth in 15 countries but is not included in the NHS newborn screening programme.

NHS screening tests blood from the heel five days after birth and looks for nine genetic diseases (sickle cell anemia, cystic fibrosis, congenital hypothyroidism and six metabolic disorders). Other countries choose up to 59 conditions.

The ordeal of Susie and Justin, 45, a farmer from Norwich, is exacerbated by the fact that James’ death was preventable – there is a £2.50 test that could control this situation.

“I was shocked to learn that a £2.50 birth test could save James,” says Susie. “His death was completely in vain. It’s scandalous.

Since their son’s death, Susie and Justin, along with other families and doctors, have campaigned for changes to the NHS newborn screening programme.

Individually, most of the conditions they want to include are rare – in most cases, each affecting around 20 children a year – but collectively, rare diseases affect one in 17 people. That’s 3.5 million people in the UK with a rare disease, three in four genetic.

Around 20 babies are born with SCID in the UK each year, and around half of these are not diagnosed until it’s too late. With a full newborn test, many of these could have been noticed earlier.

“A £2.50 test could have diagnosed James and many other children with SCID and other genetic conditions that we are not currently screening for,” says Professor Gaspar. “This is a parody for the families involved.”

Activists were in the bloodline last year when Chancellor Rishi Sunak announced £5bn for health research, including new technology that can detect around 200 conditions at birth.

This involves screening all of the newborn’s DNA for disease markers, unlike the current test, which checks for compounds in the blood associated with certain conditions.

Chris Wigley, CEO of Genomics England, a sponsored company, said that as is known, whole genome sequencing shortly after birth “has the potential to significantly improve access to diagnosis and treatments for rare genetic diseases.” Pilot DNA sequencing of at least 100,000 children.

Around 20 babies are born with SCID in the UK each year, and around half of these are not diagnosed until it’s too late. With a full newborn test, many of these could have been noticed earlier.

While this technology could revolutionize newborn screening, the pilot study, which will take at least two years to complete, won’t begin until 2023, and even if the results are positive, Professor Gaspar predicts it will take another decade. For technology to be implemented in the NHS.

“He’s kicking the tin in the street,” he says. ‘During this time, dozens of babies with rare hereditary diseases are not being taken. Some will remain with long-term impairments; others will die unfortunately. Whole genome sequencing is also not without controversy.

Simon Wilde of Genomics England, although the goal is to “identify a specific set of rare genetic diseases that affect a child in the first years of life and can be treated”, “there are strong ethical considerations … to ask ourselves how useful they are for the individual data”.

For example, technology may detect a genetic risk for diseases such as cancer, but this does not necessarily mean that a person will have a risk. However, this may mean that they are left with fear and may even take steps to reduce the risks, such as conservative surgery.

Dr. Max Pemberton, an NHS psychiatrist and Mail columnist, has previously voiced such concerns about Good Health, warning that whole genome sequencing “opens a possibility for more sinister and more insightful things”.

“We’re looking at the barrel of a eugenic weapon in which entire groups of people could ‘disappear’ from the population due to ‘undesirable’ traits like deafness,” he added.

The UK National Screening Committee, which oversees the NHS newborn screening programme, says other approaches are being considered beyond genome-wide sequencing.

There is debate over whether to include testing for tyrosinemia, a rare disease that causes symptoms ranging from liver problems to developmental delays. Scientists are also working on a spinal muscular atrophy scan.

The committee says the benefits must be weighed against the “harm to the people involved” – meaning that when parents are told their child has a condition, there will inevitably be some false positives.

Susie says what she went through was much worse than dealing with a false positive.

James was five weeks old when the first signs of health problems appeared: he had a cold, coughed after routine vaccinations, and had rapid breathing.

Susie took him to the doctor several times, and when James’ condition worsened, she took him to the hospital. James was given antibiotics and got better, but then got worse again.

“I knew something was wrong,” Susie says. “I couldn’t get him milk and he sucked while breathing. I took him back to the hospital when he was eight weeks old,” she said.

Tests showed that the oxygen level in the blood was only 47 percent (it should have been above 95). James suffered a seizure and was transferred to Addenbrooke Hospital, Cambridge, where he was diagnosed with SCID. He was later transferred to Great Ormond Street Hospital in London.

“It was all surreal,” Susie recalls. “After hearing that within a week my son could now die, I was told he had a normal respiratory infection.”

James had detected the cytomegalovirus. For most people, this causes mild cold symptoms, but it was devastating as James didn’t have the immune system to fight it, says Susie, and she died before her first birthday.

The following year, Susie became pregnant again but was worried rather than aroused.

“After Katie was born, I really had her,” Susie says. “I didn’t want anyone else to hug and touch him because everyone was hugging James and it was making him sick.

‘kids’ [the couple have twins Oliver and Ethan, ten, and Henry, 19, and Joe, 17, from previous relationships] Meet James and every room has pictures of him.

“The tragedy was that his death could have been prevented. I find it surprising that we didn’t do more to prevent this from happening to other families.