'Doctors said our toddler's illness was a one-off - three months later she was dead'

The heart-broken parents of a toddler who died from a rare disorder say they feel let down by doctors after being told her illness was a 'one-off'. Ryleigh Hillcoat-Bee died in Blackpool in November 2021 aged just three-years-old, LancsLive reports.

It was only after after multiple tests were carried out by experts at Alder Hey, Sheffield and Newcastle hospitals, after her death that it was discovered she had a Lipin 1 deficiency, an 'extremely rare' disorder that occurs in around one in every 200,000 people, an inquest heard.

Ryleigh was born in Blackpool on September 19, 2018, following a "fairly uneventful" pregnancy. Her mum, Caroline Bee, had to be induced because she developed high blood pressure but Ryleigh was healthy and her proud parents took her home two days later, an inquest was told today (June 19).

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In 2021, after Covid lockdown restrictions were eased, mum Caroline and dad Andrew Hillcoat took Ryleigh for a holiday in North Wales. When they returned home, on August 7, they suspected Ryleigh was coming down with a cold and two days later they took her to A&E at Blackpool Victoria Hospital after she became floppy and lethargic, Blackpool Coroners' Court heard.

Doctors discovered that Ryleigh had elevated levels of potassium in her blood as well as a high heartrate and breathing rate. At one point Ryleigh's urine was "as dark as Coca-Cola" but nurses suggested the sample could have been contaminated with diarrhoea even though Caroline and Andrew had not noticed any.

Tests revealed Ryleigh had "extraordinarily high" levels of Creatine Kinase, which can indicate a muscle injury or disease but doctors allowed Ryleigh to go home with her parents on August 13 with a follow-up planned for six to eight weeks.

Illness a 'one-off' - doctors

"Doctors reassured us her illness was likely to be a one-off," Ryleigh's parents said. "It wasn't until a few days after she passed away that we received a phone call to go in for further tests which infuriated us."

Three months after Ryleigh was discharged from hospital she spent Saturday November 6 watching Blackpool Illuminations and the following day visited a soft play centre. The family returned home where Ryleigh ate fish fingers, chips and veg but after she went to bed she woke up at 8.30pm being sick, the court was told.

Ryleigh eventually settled and went back to sleep but in the early hours of the following morning Caroline woke to Ryleigh crying. Her parents were so concerned about her "raspy" breathing they called 111 and were advised to take her straight to A&E.

Ryleigh arrived at the hospital at 5.20am that morning. Her condition then rapidly deteriorated and, after suffering a cardiac arrest, she died at 7.43am on Monday November 8 aged three.

After Ryleigh died doctors were left baffled by what had caused her to develop the cardiac arrhythmia, or irregular heartbeat, which led to her death. Months later, after multiple tests were carried out by experts at Alder Hey, Sheffield and Newcastle hospitals, a repeat whole genome sequencing revealed she had a Lipin 1 deficiency.

Rare disorder uncovered

Ryleigh's "extremely rare" metabolic disorder caused her to develop rhabdomyolysis, a serious medical condition that occurs when damaged muscle tissue releases its proteins and electrolytes into the blood which can damage the heart and kidneys. It can cause permanent disability or even death, the inquest heard.

In individuals with Lipin 1 deficiency a simple infection, such as a cold or chest infection, can trigger an episode of rhabdomyolysis. At an inquest which started today (June 19) at Blackpool Town Hall, Dr Andrew Morris, an expert on inborn errors of metabolism such as Lipin 1 deficiency, said that Ryleigh's illness in the August had been a "less severe" episode of rhabdomyolysis.

Dr Morris described how the deficiency Ryleigh had been born with was "extremely rare" and occurs in around one in every 200,000 people. Dr Morris said that he had recently authored revised guidelines advising that patients are treated with steroids but he said, even then, "there is no guarantee it will prevent death".

"Even when you diagnose it immediately it is very challenging to treat," Dr Morris told the hearing. "In one of my patients we set very strict guidelines but his potassium continued to rise and he sadly died. It can have a fatal outcome no matter what anybody does."

Dr Morris was asked if, had Ryleigh been taken straight to hospital on the evening of Sunday November 7, when she first showed signs of being unwell at 8.30pm, it would have made a difference to the outcome.

"It is very difficult to say," he replied. "It would depend if the local team had recognised this might be a second episode of rhabdomyolysis and rhabdomyolysis is extremely rare in children."

The inquest is due to last four days.

Tributes to Ryleigh

After Ryleigh's death her parents posted a tribute online to her in which they said: "We love and miss you each and every day that passes Ryleigh chops. You are our sunshine and always will bee. We look for you in the stars shining brightly."

Ryleigh's parents have been supported by The Compassionate Friends; a charity which helps families suffering the loss of a child. Caroline's sister-in-law Katie Hobbs ran the Royal Parks Half Marathon in 2022 and set up a fundraiser to raise money for the charity which raised more than £3,000.

Katie wrote on the GoFundMe page: "In November last year my sister-in law Caroline and her partner Andrew’s daughter Ryleigh died suddenly and unexpectedly. Her loss has been devastating for her parents and everyone that knew her. She was a smiley, happy little girl who brought so much much joy and magic where ever she went.

"I am running for the compassionate friends because they have been a real support to Ryleigh's amazing parents through the toughest time of their lives. The charity have put them in touch with other bereaved parents and have organised a retreat they will go on to meet each other in person."