When Jeannie Ewing and her husband, Ben, were told that they were expecting their second child, they were delighted.
Ewing & # 39; s pregnancy was normal without complications until she was born in March 2013, which lasted 26 hours.
After their daughter, Sarah, was delivered via C-section, the pediatrician asked her if the family had known genetic disorders.
At that time, the Ewings from Indiana were shown that their daughter had an excellent forehead, bulging eyes, and melted fingers and toes.
Sarah was diagnosed with Apert's syndrome, a rare condition that left her with deformities of the skull, face, hands, and feet – and it had gone unnoticed on all ultrasounds.
Sarah Apert, six (left, like a baby, and right, today), from Indiana, was diagnosed with Apert's syndrome, a condition that causes bone fusion. Her parents did not know before she was born because the condition was not picked up on scans
So far, Sarah has had at least seven surgeries since she was six months old to prevent bones from fusing together. Pictured: Jeannie and Ben Ewing with their children, Felicity (second from the right, Veronica (center) and Sarah (left))
Ewing said her pregnancy with her eldest daughter, Felicity, was easy and her second seemed to be the same.
& # 39; There were no more worries except that I was measuring a bit big, and the doctor thought I might have twins, & # 39; she said.
& # 39; The real problem was when our baby was ready to come out. She had a raised heart rate and I had 26 hours of work before the medical team decided I should have a C-section. & # 39;
That's when it Calling the pediatrician asked the couple if they had genetic disorders that ran in the family.
& # 39; I had no idea why she asked me this, so I responded; "No, of course not, why are you asking me this?"
& # 39; Then she took my husband Ben and talked to him about Sarah. Then he saw her protruding forehead, bulging eyes and melted fingers and toes. & # 39;
She was diagnosed with Apert's syndrome, a genetic disorder in which the bone plates in the skull melt too early in the womb, so that the skull cannot grow normally.
Sufferers can also suffer from tooth alignment due to problems with the development of the jaw, have a cleft palate and have fingers and toes with flippers.
Apert syndrome is caused by a mutation of the FGFR2 gene, which influences bone growth.
However, it is often a new genetic change, meaning that it has not been passed on from the mother or father.
The condition is estimated between one in 165,000 to one in 200,000 births, according to the National Organization for Rare Diseases.
Those with Apert syndrome tend to have between 20 and 60 operations during their entire lifetime. They are crucial to ensure that the skull does not come into place early.
Currently there are Sarah specialists every week, including healthcare professionals and music therapies and a counselor. Pictured: Sarah (right) with her sisters Felicity (center) and Veronica (left)
Doctors say that Sarah needs up to 60 surgeries to prevent her skull from sitting down prematurely and fusing other bones. Pictured: Sarah & # 39; s fused toes
While Sarah was never in intensive care, she had her first surgery at six months old to open all the melted skull bones.
Since then she has had six operations.
Sarah also sees three specialists every week as an outpatient clinic including professional and music therapies and a counselor, as well as a case manager who visits every quarter.
Her condition also affects her emotionally and although she is six years old, her emotional age is around three.
& # 39; She can sometimes have tantrums, but we are working hard on this by rewarding her for positive behavior, such as sharing, & # 39; said Ewing.
Ewing said that she and her husband want to keep her life as normal as possible at all times and that Sarah behaves like any other child in most ways.
She loves Minnie Mouse, rides her tricycle and plays with her eight-year-old sister Felicity, two-year-old sister Veronica and six-month-old brother Joseph.
& # 39; Sarah is usually happy, talkative and very friendly. She is unintentionally funny and makes me laugh and brings me joy every day, & said Jeannie.
& # 39; It's important to remember that she's just a little girl and a little bit & # 39; should feel normal.
& # 39; We don't know what her prognosis is … It is important not to worry too much about what may or may not happen. Just take every day as it comes. & # 39;
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