Baby boy died in his mum’s arms days after being born as she wasn’t offered a simple blood test during pregnancy
A TEEN mum has shared the “heartbreaking” moment she watched her newborn die in her arms of a rare genetic disorder.
Isabelle Stone’s son Oscar was born a few days before Christmas, but just hours later, it became obvious there was something wrong.
“He was sleepy and floppy,” the 19-year-old mum said, “he had gone grey in the face and blue in the lips.”
He sadly died just 15 days later.
The little boy was born with an extremely rare genetic metabolic disorder called ornithine transcarbamylase deficiency (OTC).
Isabelle, from Liversedge, in West Yorkshire, now hopes to raise awareness of the condition, saying she would “hate for someone else to feel this pain”.
The brave teen has also started a petition for the government to fund tests for genetic disorders like her
“Even if we save one baby’s life that would be amazing,” she said.
To begin with, Isabelle’s pregnancy went smoothly.
“There were no concerns, and we had no idea I had passed on a genetic disorder,” she said.
“My waters broke naturally at 35 weeks and three days – it was a little early – but there was no concern from the nurses.
“We had him the next morning [after her waters broke], and he was born fine.”
As Oscar was born premature, both Isabelle and her new baby were kept overnight as a precautionary measure.
“I then started to have concerns because he was very, very sleepy; he wasn’t wide awake and taking it all in like a newborn usually would,” she said.
Oscar had become sleepy and floppy and wouldn’t feed.
The nurses took the tubes out because I wanted to hold him as he went
Isabelle Stone
“We tried to syringe feed him milk, but he wouldn’t swallow that either,” she explained.
“He was just six hours old at this point and I had him in my arms, I looked at him, quickly looked at my partner, then looked back at him and he had gone grey in the face and blue in the lips.
“He had stopped breathing. Joe [Isabelle’s partner] got a nurse and they brought him back to life.
“He had three more episodes where his oxygen levels went low.”
It was the early hours of the next day when Oscar was taken from Isabelle, and Joe, also aged 19, after they were told he was “breathing really fast for the amount of oxygen he was taking in.”
Isabelle said: “I didn’t know anything at this point except that he was struggling to breathe. “
At 6am that morning I was handed a piece of paper which said they thought Oscar had a metabolic disorder.
The baby was then rushed to Leeds Hospital for further treament.
It was at this point the couple learnt their son had been born with a OTC which is passed down from a parent.
OTC is a rare genetic condition that causes ammonia to build up in the blood and becomes toxic to the body if levels are too high.
Isabelle recalled the heart-breaking moments she was told her new born son would only live for up to 48 hours.
“I just wanted to see my baby,” she said.
“When we went in to see him he was in a big room, which had machines connected to him by his neck, he was incubated, and had countless amounts of wires and medications, needles in his head and they had him sedated with 19 different medications hooked up to him.
“To go in and see all these big machines was heart-breaking.”
Thankfully, Oscar defied the odds, but then on January 4 Isabelle developed the “bad feeling” which wouldn’t go away.
“I woke up in the middle of the night and seconds later it was the nurse, she told me his ammonium had gone back up.
“I couldn’t go back to sleep so I went back to hospital, I kept saying to myself ‘this isn’t right, everything isn’t OK.'”
The next day Oscar was taken for an MRI. The brain scans showed the disorder had attacked his brain.
“We were told he would never walk, talk, and had severe cerebral palsy, (CP)” the mum said.
CP the name for a group of lifelong conditions that affect movement and co-ordination.
The next step would have been a liver transplant, but the parents were warned against this as Oscar wouldn’t have a “good enough quality of life” so he was moved to end of life care.
“We were told to bring anyone we wanted in to see him as this is all the time we will get,” she recalled.
“The nurses said ‘you tell me when you’re ready to take the breathing tube out,’ I just kept saying ‘when will I ever be ready?’
“I knew it wasn’t fair for them to carry on working on Oscar and there was nothing they could do but how does a mother make that decision? How can I ever do that.”
That night Isabelle and Joe got to cuddle their son in bed for the first time. They made lots of memories with him and had keepsakes made.
She continued: “Neither of us slept because at any point he could have gone.”
Oscar survived the night, but by 10am the next day he started turning grey.
“You could tell he was deteriorating,” Isabelle said.
She added: “The nurses took the tubes out because I wanted to hold him as he went.
“He lived for half an hour – you could just tell how much of a fighter he was he squeezed my finger and looked at us and I felt he knew that it was the last time we would get to see him and then he passed away in my arms.”
The parents and baby Oscar went to say at Martin House for nine days after he died, getting to spend their final moments together.
Helping others
Isabelle has shared her story as part of her petition urging the government to fund tests for parents during pregnancy to find genetic disorders like OTC prior to the birth.
She hoped these tests would give babies like Oscar a fighting chance or survival, or even to open doors for more options for parents.
“I had no clue this was something that I could carry and pass on to my son.
“And, if I had been tested during my pregnancy and it came back to say I had OTC then they would have been able to do tests on Oscar and had that happened there would have been a lot more options – I’m not saying this could have saved him – but we would have more options.
“We walked into this blind, having had that information we could have been able to do things that we didn’t get the chance to do with Oscar, the things we feel robbed of now.
“It would have opened a lot more doors.”
Signs and symptoms of OTC deficiency
Ornithine transcarbamylase deficiency (OTC) is a rare genetic condition that causes ammonia to build up in the blood.
The condition is more common in boys than girls and tends to be more severe when symptoms emerge shortly after birth.
Ammonia is a normal waste product formed when the body breaks down proteins, however it becomes toxic if levels are high, as happens if it is not properly removed from the bloodstream.
The brain is especially sensitive to high levels of ammonia; increased ammonia can cause severe, permanent brain damage.
Severe OTC deficiency causes symptoms soon after birth. These symptoms may include:
- Increased sleeping, progressing to lethargy and coma
- Poor sucking or inability to feed in an infant
- Vomiting
- Problems with breathing rate or body temperature
Symptoms of late-onset OTC deficiency may include:
- Migraines
- Nausea/vomiting
- Mild developmental delays
- Intermittent episodes of confusion
Since losing Oscar, Isabelle has spoken to so many women who have lost babies who had genetic disorders that they passed on unknowingly.
“If I can help someone then I know something good has come out of my heartbreak,” she said.