A SHOCKED mum has told how her daughter broke her leg while in the womb - and was then diagnosed with an illness so rare even a SNEEZE can cause her bones to snap.
Little Mya Honca, now four months, has osteogenesis imperfecta - also known as brittle bones - with medics realising after she had a fractured femur whilst she was in the womb.
Her mum, Emma Tomlinson, 37, a psychiatric nurse, and dad, Louis Honca, 32, an illustrator, now have to handle their fragile baby with great care.
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."
Emma was told there were 'abnormalities' with her unborn baby at a routine 20-week scan in January 2019.
She said: "I could tell from the expression on the sonographer's face that something was wrong.
"They took a look and told me my baby had bowed legs and a fractured femur.
"I turned down more invasive testing when I found out something was wrong and was offered it because to me it didn't matter.
"I knew my baby would be loved whatever the circumstances.
"But I was unsure whether she would survive or if the condition might kill her.
"It was a worrying time."
The couple were keen to find out all they could about their unborn child and booked in for an early scan.
She's beautiful, she's perfect to me.Emma Tomlinson
Emma, who also has 11-year-old son, Joshua, and three-year-old Marcus, said: "We were very impatient and found out we were having a little girl during a private 16-week scan.
"My mum, Francis, has died the year before and when we started trying for another baby I hoped to have a girl to form that special mother-daughter relationship I'd had with my mum.
"We then went along to the routine 20-week scan thinking everything would be fine.
"My pregnancy had been smooth-sailing up to that point.
"No one mentioned any issues.
"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.
"All of a sudden the sonographer went quiet and told us: 'I've got some concerns, I need to get a second opinion' before leaving the room."
Mum Emma continued: "It was so quiet, we were very tense and hugely anxious.
"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.
"I asked her what the problem was and she told us, at that point, our little girl's femurs and thigh bones were measuring different sizes.
"Straight away we wanted to know more, but the only thing she could tell us was that it could be a number of conditions it could be such as dwarfism.
"We left feeling incredibly down-trodden and both instantly turned to Google which was a bad idea as it made us think the worst."
Emma and Louis were given more information when they met with a specialist at Hull Royal Infirmary in January 2019.
Emma said: "When we saw the consultant she was really informative.
"She explained that the femur bones were bowing and she looked at our baby's whole anatomy.
"She said everything else looked fine at that stage.
"She referred us to the genetic team at Leeds General Infirmary to have an amnio test to get a clearer picture of what was wrong, but I refused to undergo it as it increased the risk of miscarriage and I didn't want a higher chance of losing our baby.
"The results of the test would have taken 10-15 weeks to come back too - so by the time we got them I could have been around 35-36 weeks gone.
"The consultant mentioned the different conditions it could potentially be such as skeletal dysplasia.
"She believed the bent bones were isolated to the femurs.
"There was no mention of brittle bones at that point.
"We weren't too concerned, we didn't know what to expect, but we kept holding on to the positive side.
"I went for a scan once every fortnight after that and saw a consultant every three or four weeks.
"I was then referred to Leeds and went to see the genetics team.
"There a medic picked up that the baby had a fractured femur and they became concerned that our baby had OI.
"We'd heard the condition batted around a little bit, but we knew very little about it.
"They looked at the bones from different angles and could see a very prominent break in the femur.
"We were then advised to go to Sheffield Children's Hospital as they are the experts in that field and have a specialist bone team."
Medics prepared for the baby's arrival and 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.
Emma said: "Because of the scan results, they wanted to ensure she was born via caesarean because it can be more traumatic to have a natural birth for a baby with soft bones.
"There was a care team in theatre - there to receive her - as soon as she arrived.
"She was born via c-section. Louis cut the cord and she was brought across to me so I could give her a quick kiss and then she was whisked away to the neonatal unit.
"I didn't get to see her for nine hours."
She is like a china doll - she's so fragile.Emma Tomlinson
Emma said: "She had to undergo assessments - they did full body scans and x-rays.
"A consultant from Sheffield came to the hospital to meet us, Mya and the specialist nurse."
The family didn't receive an official diagnosis until on 16 May, three days after her birth.
Emma said: "The registrar from the neo-natal unit came to see us and said they wanted to tell us as soon as possible that they'd spoken to the consultant and seen the x-rays.
"There was a fracture in utero and they were concerned she might have had a fractured radius on her right arm too.
"The consultant told us all about brittle bones and explained a bit about the condition.
"Mya looked like a typical baby.
"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."
After a week on the neonatal transitional unit at Hull Royal Infirmary, Mya was able to go home with her family.
Emma said: "She is like a china doll - she's so fragile.
"Any time you hold her, you could break a bone. If she sneezes, coughs or giggles she could break a bone - it's frightening.
"We can't wrap her in cotton wool though.
"She's beautiful, she's perfect to me.
"I don't want people to look at her and feel sorry for her. I want to raise awareness.
"There are so many people out there with OI leading amazing lives.
What is brittle bone disease?
Osteogenesis Imperfecta, also known as brittle bone disease, is a genetic condition characterised by bones that break easily, often from little or no apparent cause.
It is caused by a genetic mutation that affects the body’s production of collagen, which can be found throughout the body, especially in a person’s bones and other tissues.
The condition can vary quite drastically from person to person so a classification system has been identified to describe the different types of OI.
These are commonly used to help describe how severely a person with OI is affected.
Symptoms include frequent fractured bones, muscle weakness, hearing loss, fatigue, joint laxity, curved bones, scoliosis, blue sclerae.
People with the condition can also have brittle teeth and short stature among other medical problems.
To diagnose OI, doctors will typically do x-rays to check for fractures and bone changes.
In some cases genetic testing is possible, but not undertaken routinely.
The main treatment of OI is pamidronate, which is a bisphosphonate drug that prevents the loss of bone mass.
Pamidronate strengthens the bones by increasing bone density and is used alongside Vitamin D supplements which help the body to absorb calcium.
The OI service at GHOST offers advice, support and help for those who have been diagnosed with OI, and with some adaptations, kids and young people can lead a near-normal lifestyle.
"Mya probably would not be advised to jump on trampoline, be on bouncy castle or do certain sports - but we're determined the condition won't hold her back.
"She has bone infusion treatment and will need it once every six weeks for the first year of her life and after that once every three months.
"That will be ongoing until she stops growing - into her teenage years.
"In adulthood, she'll have treatment once every six months or every year.
"When starts to walk - will need her legs rodded - metal to prevent fractures and able her to be more mobile.
"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."
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