By Scott Thompson
THIS INSPIRATIONAL couple had the SHOCK OF THEIR LIVES when after an uncomplicated pregnancy they were presented with their new baby girl who had a PERTRUDING forehead, BULGING eyes and WEBBED fingers and toes – but they instantly fell in love with her and although she could need up to SIXTY surgeries say it’s important that she feels like any other ‘normal’ little girl.
Freelance writer and stay at home mum of four, Jeannie Ewing (38) from Indiana, USA, became pregnant in March 2013 and had a wonderful easy pregnancy with no complications.
But on March 15, 2013, Jeannie went into labour for over 26 hours and when doctors noticed that her unborn child had an increased heart, her daughter, Sarah (now 6) was delivered via c-section, weighing 9 lbs.
To Jeannie’s shock, the paediatrician asked her if the family had any genetic conditions. It was then that her husband Ben (39), was shown their daughter who had a protruding forehead, bulging eyes and fused fingers and toes.
Sarah was diagnosed with Apert syndrome which can notably be identified by premature fusion of certain skull bones which changes how the head would normally look, it also fuses the hands and toes.
Irrespective of the diagnosis the parents both welcomed their daughter into the world with nothing but deep love for her.
“I’m a freelance writer and stay at home mum who also home-schools our oldest daughter. We have a house full of three girls and one boy, Felicity (8), Sarah (6), Veronica (2) and Joseph (six months),” Jeannie said.
“When I become pregnant with our second girl, Sarah I had such an enjoyable and normal experience. There weren’t really any concerns apart from me measuring a little big, and the doc thought I might be having twins.
“The real problem was when our baby was ready to come out. She had an increased heart rate and I was in labour for 26 hours before the medical team decided I should have a c-section.
“The on-call paediatrician approached me and asked ‘do you have any genetic conditions in your 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.
“We hadn’t even heard of Apert syndrome before. 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.”
People with Apert syndrome tend to have between 20 and 60 operations throughout their lifetime. These are crucial and usually are to unfix the skull from prematurely setting in place.
Sarah was miraculously never in intensive care. She started therapies at just three months old and had her first operation at six months old to open up any fused skull bones.
Rehabilitation has not been easy and currently includes at least three specialist outpatient appointments weekly. These are for occupational therapy, music therapy and counselling. She also sees another specialist once a week depending on what the current issue is.
Sarah also has a case manager who comes to see her once a quarter who oversees her overall care.
Her condition also affects her emotionally and although she’s six years old her chronological age is roughly three and thus sometimes, she has tantrums. A big part of her progress is focussed on reinforcing positive behaviours with rewards.
Although Sarah will need a lifetime of care and operations the family are counting their blessings as many children born with this rare condition need a trach tube to help them breathe, have a cleft palate and need speech therapy.
“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,” Jeannie said.
“On average, people with Apert syndrome undergo 20 to 60 surgeries throughout their lives. Most of these are to separate the fused bones in the skull and ‘opening up’ facial bones, plus separating fingers and toes. Sarah has had seven operations so far for these issues.
“She started therapy at just three months old and had her first operation to open up the fused portion of her head.
“Sarah sees three specialists as an outpatient every week including occupational and music therapies and a counsellor. All other specialists she sees regularly but not necessarily weekly. It just depends what the current issues are.
“For example, Sarah has sleep apnoea due to her syndrome, so she has had two diagnostic sleep studies and one CPAP titration sleep study in the lab.
“We also have a case manager who visits us quarterly. She manages all the updates about Sarah’s ongoing care. I am the primary care giver, which has been really useful because I’ve been able to make sure all her different therapies are all incorporated. So, when she has music therapy it will also be used in her counselling which helps to reinforce what she learns.
“Because of her chronological emotional age (3), she can sometimes have tantrums, but we are working hard on this by rewarding her for positive behaviours such as sharing.”
Jeannie likes to keep her life as normal as possible at all other times and Sarah certainly acts like any other child in personality and character.
Because of her love for so many simple things the family are always reminded of what’s really important in life.
They do not know what her prognosis is and so they take each day as it comes.
“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,” Jeannie continued.
“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.”
You can follow the family’s journey on Instagram.