BIRTH TRAUMA
Our beautiful baby girl was born with no eyes but it was hours before we realised something was wrong
Parents Laura and John recall how their lives changed forever in an emotional video
A BABY girl was born with no eyes - but it took hours for her parents to realise.
Mum Laura and dad John Duffy-Moss were so caught up in the whirlwind of the "dramatic" delivery that they hadn't noticed something wasn't quite right.
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While initially concerned and feeling "a real sense of loss", the parents, from York, now say their daughter is "beautiful" and has "changed their lives for the better".
Laura, 37, said: "The only way that I can describe Margot is beautiful inside and out.
"She's so happy.
"I think that she has taught us so much and she has changed our world in a way that we appreciate life and appreciate the very small things in life far more than we previously did."
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Margot has bilateral anophthalmia, meaning her eyes and optic nerves never developed in the womb.
The rare condition affects an estimated one in 100,000 babies.
It wasn't spotted during Laura's "straightforward pregnancy", nor immediately following Margot's "fairly dramatic" birth.
"John delivered her at home on the floor unexpectedly - that wasn't something that was planned," Laura, a school administrator, said.
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"The labour came on quite quickly but our labour ward was full and they couldn't accept me."
John, 33, a manager at York Theatre Royal, added: "They put a midwife on speakerphone and she talked me and Laura through what we had to do, basically."
Parents stunned as baby girl born without EYES due to rare genetic disorder which only affects 30 people in world
Several hours later, they suddenly noticed she didn't look quite as expected.
"It was only a number of hours later that we really had a proper good look at her because there was all the commotion of the ambulance then arriving and then getting to hospital," Laura said.
"I was holding her and I just said to John, 'Do you think everything's OK, because something doesn't feel quite right?'
"Margot hadn't yet opened her eyes and her face just looked unusual."
Margot was seen by a series of paediatric doctors, one of whom tried to prise open her eyes with small metal clamps, before being referred to a specialist paediatric ophthalmologist.
It wasn't until Margot was four days old that she was diagnosed with bilateral anophthalmia.
"It sounds such a horrendous thing to say now because Margot is so beautiful, and she has changed our lives for the better, but at the time it was extraordinarily traumatic," Laura said.
"The whole situation feels like a trauma."
She doesn't know what anything looks like so you just give her something to feel and she can spend ages mapping it out with her fingers
Laura
Once the news had sunk in, John began contacting professionals to learn more about how to support Margot.
Kate from Guide Dogs has been helping since she was 12 weeks old, making her one of the youngest children the charity has worked with.
Since then, Laura and John have watched their little girl learn new skills and surpass "all our expectations".
It will be a "long time" before Margot interacts with the guide dogs, but she is learning essential tasks like standing up, moving about, and developing core strength.
"Life today looks completely different to when she was first born," John said.
"We haven't found anything that she doesn't like.
"She'll sit next to her sister, just touching things, anything, because she doesn't know what anything looks like so you just give her something to feel and she can spend ages mapping it out with her fingers and getting to know what it is.
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"Regardless of her having to have surgery every few months and having to constantly go to the hospital and be prodded at, and her sister throwing footballs at her and all the appointments that she has had, she's just very, very happy, and very content."
The family celebrated Margot's first birthday in October, which they said was "lovely".
What is bilateral anophthalmia?
Bilateral anophthalmia is a medical term for the absence of both eyes.
It is a rare condition that occurs during early foetal development.
It can show up on ultrasound scans, but it won't always.
Bilateral anophthalmia is thought to be caused by genetic mutations and abnormal chromosomes.
Some scientists believe that environmental factors, like exposure to chemicals, drugs or viruses, may increase the risk, but research is limited.
There is no treatment that will create or restore vision, but children can be fitted with prosthetic eyes for cosmetic purposes and to promote socket growth.
Experts estimate anophthalmia affects around one in 100,000 babies.
About 30 children are born in England and Wales every year with anophthalmia or microphthalmia - where one or both of a baby's eyes are small.
Source: BAAM, the CDC and Moorfields Eye Hospital
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