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A mum has told of how her “mother’s instinct” and amazing doctors helped prevent a baby with a rare condition from “ending up in a graveyard”.
Laura Cayzer gave birth to her fourth child, Lennox, on September 3, 2022.
The 30-year-old and her partner, Anthony Lewis, 31, said there were no issues with the pregnancy until Laura needed to be induced at 42 weeks.
Laura called her labour “horrendous” and said that when her baby was born “floppy,” she knew something was wrong.
It was not until Lennox was six weeks old that he was diagnosed with PURA neurodevelopmental disorder, a genetic condition that just 400 children worldwide have been diagnosed with.
Laura, from Skelmersdale, Lancs, told The Liverpool Echo: “Labour with him was absolutely horrendous and I was induced at 42 weeks.
“I had to go through every stage of induction because he was not coming out.
“Once he was born I noticed he was floppy, the doctors called him a lazy baby and we were sent home within four hours of me giving birth.
“I was already having problems with him feeding but they told us it was because of a medication I had been on and it should be better in a few days.”
When a midwife came out to check on Lennox they found he had lost 13 per cent of his body weight, which was previously 9lbs.
The family ended up rushing the newborn to the hospital on September 8 due to the continued problems feeding and how much he was sleeping.
Laura said: “His temperature was 34 degrees, the machine wouldn’t even pick up his temperature. He was doing well but they wanted to keep him in overnight.
“On Friday (September 9) we nipped home to get a few bits as they said they wanted to keep him in over the weekend.
“We got a taxi from Ormskirk to Skelmersdale and as soon as we walked through the door we got a call from the hospital to say a nurse who was watching him saw he stopped breathing and they needed to ventilate him and send him to Alder Hey.
“We grabbed the first things we could find and rushed back into the taxi. The woman told us they would be sending Lennox in an ambulance and if we were driving past and saw an ambulance at the side of the road do not stop. She said that they would be doing everything they could for Lennox.
“The whole taxi journey I was looking out the window thinking I was going to see the ambulance and something would have happened to him. I remember sitting in the taxi sobbing.
“If it wasn’t for the little Scouse firecracker of a nurse who was watching him, Annie, my son would probably be dead and ended up in a graveyard.”
Over the next week, Alder Hey ran dozens of tests on Lennox in the PICU to try and find out what was wrong with him.
Laura said: “It was horrifying. We didn’t tell our other children and they were staying with friends and family while this was happening. We were staying at the Ronald McDonald house so we could be closer to Lennox.
“I remember one night I couldn’t sleep and went over to the ward early in the morning and they just let me in to see him. I wasn’t able to touch him because he was on a ventilator but I could see him and talk to him.”
Lennox made a miraculous recovery and was able to come off his ventilator.
Doctors are still unsure exactly what caused him to improve so drastically, but Lennox was discharged from hospital on September 28.
Laura and Tony finally got answers on why their son was so unwell when genetic testing came back from Liverpool Woman’s Hospital.
Lennox was diagnosed with the extremely rare PURA neurodevelopmental disorder, which occurs when one of a person’s two copies of the PURA gene, located on chromosome 5, do not function normally.
Symptoms of the disorder include seizures and seizure-like movements, low muscle tone, feeding difficulties, and breathing problems.
Since Lennox was discharged from hospital he has gone from strength to strength and has regular checkups with doctors.
Laura said: “We know Lennox will be disabled, but we don’t know how badly disabled he will be. At the moment he is showing no signs of PURA and we don’t want him to be defined by it, we want Lennox to define Pura.
“I want to tell parents if they think anything is wrong with their baby, being floppy, low muscle tone, being too sleepy, then don’t take no for an answer and get them checked. We were made to feel like hypochondriacs, but we knew he wasn’t right.”
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