WHEN little James Thorndyke was born, mum Susie and husband Justin who works as a farmer, were overjoyed.
Susie already had twins, four-year-old Oliver and Ethan, from a previous relationship and knew she wanted another baby to add to her brood.
Susie, now 39, was 33 at the time and said the pregnancy was relatively straightforward and that her bonnie newborn went over by two weeks, with Susie having to be induced.
James weighed 8lb 8oz and “everything seemed to be fine”.
But just weeks later, her world was turned around when it was found James had a rare genetic condition.
Delays in treatment meant he was unable to get the care he needed for severe combined immunodeficiency (SCID).
Read more on rare conditions
Sadly, he died in his mum’s arms, five days before his first birthday on February 18, 2017.
Devastated, Susie, who helps out on the farm in Norwich, Norfolk, is now campaigning for a test that costs just £2.50 to be given to all babies to check for the condition.
Severe combined immunodeficiency (SCID) is a condition which refers to a group of rare disorders caused by mutations in different genes.
This happens during the developmental stage and impacts the function of infection-fighting immune cells.
Babies with the condition will often appear to be healthy but are at high risk of severe infections.
Speaking to The Sun, Susie said things would have been different if her little boy had been tested.
“Effectively, every person he came into contact with when he was first born, whether it’s for a cuddle or first meet, could have been making him even more poorly.
“Lots of people carry viruses.
“So everyone we showed him to, everyone was passing germs on to him, whether that was family, friends or on public transport,” she added.
The family’s nightmare started when James was just five weeks old and got a cold.
Susie said her twins never really suffered with colds and doctors told her James would get over it in a few weeks.
Then at eight week, James had his first round of vaccines and on the way home, started to cough.
“I questioned whether it could be a reaction to the jabs that fast and the next evening I called 111,” Susie said.
“He had a hacky smoker’s cough – a tiny little baby shouldn’t have been coughing like that.”
The next day Susie took little James to their local GP in Norfolk as he wasn’t feeding and his breathing had become rapid.
“The hospital said he had a chest infection and he was in hospital for six days with low oxygen levels.
“He was given oral antibiotics, then in three days he deteriorated again. You could see it in his face.
“He wasn’t smiling, he became a little lifeless so we took him back to the doctors.”
Susie said the family were told then it would take James a while to get over the illness.
Even then I didn’t think he was going to die and that he would prove everyone wrong
Susie Thorndyke
But a day after Susie’s birthday on April 27, just weeks after being told it would take him a while to get better, he still wasn’t right.
“Even then to look at him you would have no idea, he always looked bonnie and had colour in his cheeks, and he had a little bit of thrush in his mouth,” she said.
When they arrived at the hospital, Susie said the team had been really busy, so James was put on an oxygen monitor.
“It all went downhill from there, we had blood tests, he had to have a lumbar puncture.
“They thought he had a chest infection, then they said it might be epilepsy.”
A different doctor then told Susie they would be moving James to a high dependency unit.
She added: “They told me that if they didn’t move him then he would die. It was surreal seeing my little baby on a ventilator.”
James was moved to Addenbrookes Hospital in Cambridge, and it was then they were told their boy had SCID.
Susie said she had never heard of the condition before and said medics told her to not look it up online.
From there James was moved again, this time to Great Ormond Street Hospital (GOSH), and the family were told he might need a bone marrow transplant.
“He was undiagnosed for so long that his body was just riddled with infection.
“Every time we thought we were getting somewhere, it was just another step back.
“It’s frustrating to think if he had been diagnosed straight away then he might still be here with us today.”
Susie praised her little boy for being a fighter – even when doctors moved him to an oscillator, which is a high frequency ventilator.
“It was horrible, it was like a washing machine and just the most horrendous thing.
“We got him off the ventilator and doctors told me he couldn’t cough or swallow and that it was the end of the line.”
Reluctant to let her little fighter go, Susie asked medics for more time and soon, James was coughing, swallowing and feeding from a bottle again.
Severe Combined Immunodeficiency (SCID) is a rare genetic disorder which can cause life-threatening complications.
Babies with the condition will often appear fine at birth, but they may start to display the below symptoms:
It is caused by a gene found in the X chromosome and only affects males.
However, females can be carriers of the condition.
There are different forms that can be caused by a variety of other genetic issues.
In July 2016, James had a bone marrow transplant from dad Justin, who was only half a match – but the family didn’t have time to wait.
They were told results could take up to six months to show.
But during the next few months, James was in and out of hospital and suffered infantile spasms, which caused devastating brain damage.
It was impossible to control them and that Christmas the family had small celebrations as they weren’t able to have anyone over, in order to keep James safe.
Susie said: “I was adamant I wanted to care for him at home and GOSH were amazing and organised everything for us.
“Even then I didn’t think he was going to die and that he would prove everyone wrong.”
But just weeks later, Susie got James out of his cot and dressed him and realised he was struggling to breath.
Nurses were called and they told Susie these would be the final moments she would have with her little boy.
“He died in my arms,” Susie remembers.
Her experience with James has now propelled Susie to push for SCID screening in the UK.
She added: “We are letting our children die.
“I speak to GPs and students every year and no one is doing anything about it.”
Susie is now urging all parents to push on with doctors and to trust your instincts.
“You know when something isn’t right.
“Medics have said they won’t add the test to the heel prick test as it’s ‘too traumatic for babies’, but what’s more traumatic is watching your baby die in your arms,” she said.
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Susie is petitioning for the test to be included in new-born screening, you can sign her petition.
Susie has also documented her journey on YouTube.
