Jeannie Ewing had an easy pregnancy with no complications, until she went into a 26-hour labour.
After her daughter, Sarah, was delivered by C-section, the mum and her husband, Ben, were asked if her family had any history of genetic conditions.
That’s when the couple saw that their daughter had a protruding forehead, bulging eyes, and webbed fingers and toes.
Her visible differences didn’t matter, of course. Jeannie and Ben fell in love with her daughter immediately.
But in the months that followed the parents discovered that Sarah had a rare condition that will require tens of surgeries throughout her life.
Sarah was diagnosed with Apert syndrome, a condition which can be identified by fusion of the skull bones, which changes the way the head appears. It also fuses the fingers and toes.
People with Apert syndrome tend to require between 20 and 60 crucial surgeries throughout their lives, usually to ensure the skull doesn’t settle in an incorrect position.
The condition also affects Sarah emotionally, making her mental age around three years old despite being six.
She had her first operation at just six months old, and has to undergo at least three specialist appointments each week, with occupational therapy, music therapy, and counselling.
Sarah faces a lifetime of specialised care and operations, but Jeannie and Ben are just grateful to have her as their daughter.
Jeannie said: ‘Sarah was born with Apert syndrome due to a genetic fluke. This means she didn’t get it from the family, but she can pass it onto her own children if and when she decides to have her own children.
‘Sarah has had seven operations so far. She started therapy at just three months old and had her first operation to open up the fused portion of her head.
‘Because of her emotional age (three), she can sometimes have tantrums, but we are working hard on this by rewarding her for positive behaviours such as sharing.’
Jeannie and Ben hope to keep Sarah’s life as normal as possible.
They’re not sure what her prognosis is so they take each day as it comes, and take her illness as a reminder of what’s really important in life.
‘We hadn’t even heard of Apert syndrome before,’ says Jeannie. ‘When the doctors told us, I was completely incredulous to it.
‘In fact, the medical team told us ‘it was like a supernatural light was shining bright from the room when we saw how much you embraced and loved her when Sarah was born’.
‘We all shared a heartfelt joke that we must be Christians or in denial, but it was a very powerful observation and I’ll never forget that moment.
‘Sarah has such an amazing personality and character. She’s a boisterous child. She is usually happy, talkative and very friendly. She’s unintentionally funny and makes me smile and brings me joy every single day.
‘It’s important to remember that she is still just a little girl and needs to feel somewhat ‘normal’.
‘She is absolutely in love with Minnie Mouse, she loves to sing and dance. Her favourite song is ‘California Dreamin” by The Mamas and the Papas. She also enjoys riding her tricycle to the park and swimming at her grandparents’ house.
‘We don’t know what her prognosis is. The data isn’t really there for that kind of thing.
‘It’s important to not over worry about what may or may not happen. Just simply take every single day as it comes.’
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