When Jeannie Ewing and her husband, Ben, learned they were expecting their second child, they were elated.
Ewing’s pregnancy was normal with no complications until she went into labor in March 2013, which lasted 26 hours.
After their daughter, Sarah, was delivered via C-section, the pediatrician asked her if the family had any known genetic conditions.
It was then that the Ewings, from Indiana, were shown their daughter had a protruding forehead, bulging eyes and fused fingers and toes.
Sarah was diagnosed with Apert syndrome, a rare condition which left her with malformations of the skull, face, hands and feet – and it had gone undetected on all ultrasounds.
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Sarah Apert, six (left, as a baby, and right, today), from Indiana, was diagnosed with Apert syndrome, a disorder that causes a fusion of bones. Her parents didn’t know until she was born because the condition wasn’t picked up on scans
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So far, Sarah has had at least seven operations since she was six months old told to prevent bones from fusing together. Pictured: Jeannie and Ben Ewing with their children, Felicity (second from right, Veronica (center), and Sarah (left))
Ewing said that her pregnancy with her oldest daughter, Felicity, was easy and her second one appeared to be the same.
‘There weren’t really any concerns apart from me measuring a little big, and the doc thought I might be having twins,’ she said.
‘The real problem was when our baby was ready to come out. She had an increased heart rate and I was in labor for 26 hours before the medical team decided I should have a C-section.’
That’s when the on-call pediatrician asked the couple if they had any genetic conditions that run in the family.
‘I had no idea why she was asking me this, so I responded; “No, of course not. Why are you asking me this?”‘
‘She then took my husband, Ben, aside and talked to him about Sarah. That’s when he saw her protruding forehead, bulging eyes and fused fingers and toes.’
She was diagnosed with Apert syndrome, a genetic abnormality where the bone plates in the skull fuse too early in the womb so the skull is unable to grow normally.
Sufferers may also have problems with tooth alignment due to jaw development problems, have a cleft palate, and have webbed fingers and toes.
Apert syndrome is caused by a mutation to the FGFR2 gene, which affects how bones grow.
However, it’s often a new genetic change, meaning it wasn’t passed down from the mother or father.
The condition is estimated to occur between one in 165,000 to one in 200,000 births, according the National Organization for Rare Disorders.
Those with Apert syndrome tend to have between 20 and 60 operations throughout their lifetime. They are crucial to ensure the skull doesn’t prematurely set in place.
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Currently, Sarah specialists as an outpatient every week including occupational and music therapies and a counselor. Pictured: Sarah (right) with her sisters Felicity (center) and Veronica (left)
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Doctors say Sarah could need up to 60 surgeries to prevent her skull from prematurely setting in place and other bones from fusing. Pictured: Sarah’s fused toes
While Sarah was never in intensive care, she had her first operation at six months old to open up any fused skull bones.
She’s had six more operations since.
Sarah also see three specialists as an outpatient every week including occupational and music therapies and a counselor, as well as a case manager that visits quarterly.
Her condition also affects her emotionally and, although she’s six years old, her emotional age is roughly three.
‘She can sometimes have tantrums, but we are working hard on this by rewarding her for positive behaviors such as sharing,’ Ewing said.
Ewing said she and her husband like to keep her life as normal as possible at all times and Sarah acts like any other child in most ways.
She loves Minnie Mouse, riding her tricycle, and playing with her eight-year-old sister Felicity, two-year-old sister Veronica and six-month-old brother Joseph.
‘Sarah is usually happy, talkative and very friendly. She’s unintentionally funny and makes me smile and brings me joy every single day,’ Jeannie said.
‘It’s important to remember that she is still just a little girl and needs to feel somewhat “normal”.
‘We don’t know what her prognosis is…It’s important to not over worry about what may or may not happen. Just simply take every single day as it comes.’