'China doll' baby born with bones so brittle a sneeze could cause a fracture
A UK baby has been diagnosed with a rare disease that means her bones are so brittle a sneeze, cough or giggle could cause a fracture.
Mya Honca has Osteogenesis Imperfecta (OI) - also known as brittle bones - which doctors picked up after noticing she had a fractured femur while in the womb.
Her mum, Emma Tomlinson, 37, a psychiatric nurse, and dad, Louis Honca, 32, an illustrator, now have to handle their newborn with extra care.
They say the five-month-old is so fragile they have to handle her like a ‘china doll’ and have even made a warning sign for her baby carrier.
Mum-of-three Emma, from Hull, East Yorkshire, said: “Mya is so fragile - it's like she's made of china or glass.
“We have to be extra careful picking her up, changing her nappy or giving her a bath.
“She's so delicate even the slightest knock could result in a broken bone.
“Her dad even made a sticker for her baby carrier which reads: 'Please be careful removing me, I have brittle bones’ to warn people to handle with care.”
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The couple were first told there were 'abnormalities' with their unborn baby during a routine, 20-week scan in January 2019.
Doctors spotted the baby was bow legged and had a fractured femur, and predicted it could be a number of conditions that might affect her growth, including dwarfism.
“My pregnancy had been smooth-sailing up to that point,” Emma, who is also mum to Joshua, 11, and Marcus, three, continued.
“I went into the room expecting it to be straight-forward as it had been with my boys before, but it soon felt like we were in a TV soap.
“The sonographer went quiet and told us: 'I've got some concerns, I need to get a second opinion' before leaving the room.
Emma says they couple were hugely anxious while they waited for the sonographer to return, but the couple were forced to wait six days for an appointment with a consultant.
“My husband was there with me and we both just looked at each other and thought: ‘What is going on?’
“The sonographer came back into the room - she hadn't been able to get the consultant to come up as they were busy so she made us an appointment to see the consultant in six days time.”
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During the meeting with the specialist the couple were told their daughter’s femur bones were bowing and offered Emma an amnio test to get a clearer idea of what the problem might be.
But concerns over the miscarriage risk meant the couple decided to forgo the test.
“It didn’t matter. I knew my baby would be loved whatever the circumstances,” Emma explains.
“But I was unsure whether she would survive or if the condition might kill her. It was a worrying time.”
Having spotted a potential fractured femur on one of Emma’s fortnightly scans, doctors became concerned the baby could have OI.
They recommended Emma give birth via cesarean because it can be more traumatic to have a natural birth for a baby with soft bones.
Little Mya was born during a planned c-section at 37 weeks on 13th May at 9.31am at Hull Royal Infirmary - weighing 5lbs 15oz and was immediately taken to the neonatal unit.
Three days after her birth, the coupe were given the official diagnosis that their daughter had OI.
The condition is caused by a defect where collagen, responsible for supporting bone structure, is missing, reduced or of low quality in the body.
“The consultant told us all about brittle bones and explained a bit about the condition,” Emma says.
“Babies with OI can typically have more bulbous foreheads, a bigger head overall and the chest be more bell-shaped but Mya didn't have any of those things.
“[She] looked like a typical baby.
After a week on the neonatal transitional unit at Hull Royal Infirmary, Mya was able to go home with her family.
The couple have since learned how to treat their precious newborn.
“She is like a china doll - she's so fragile,” Emma said.
“Any time you hold her, you could break a bone. If she sneezes, coughs or giggles she could break a bone - it's frightening.
But the family are determined not to wrap their daughter in cotton wool. We can't wrap her in cotton wool though.
And though she probably won’t be able to jump on trampoline, go on a bouncy castle or do certain sports, they don’t want the condition won't hold her back.
Mya has undergone bone infusion treatment, which she will need once every six weeks for the first year of her life, reducing to once every three months after that until her teenage years.
In adulthood, she'll have treatment once every six months or every year.
Emma says when her daughter starts to walk - will need her legs rodded - in metal to prevent fractures and able her to be more mobile.
“I don't want people to look at her and feel sorry for her,” Emma says. “I want to raise awareness.
“There are so many people out there with OI leading amazing lives.
“Whatever life throws at Mya we'll be there for her and we'll get through it.
“We're determined to give her an incredible life.”
What is Osteogenesis Imperfecta (OI)?
Brittlebone.org describes Osteogenesis Imperfecta (OI) as a genetic bone disorder characterised by fragile bones that break easily.
It is also known as brittle bone disease. A person is born with this disorder and is affected throughout his or her lifetime.
OI is a rare condition and it is estimated that the number of people born with it is approximately one in every 15,000: that equates to around 5000 individuals in the UK living with OI.