A heartfelt story about a young girl named Amelia is inspiring parents around the world.
Tricia Brusk and her husband Joel — anticipating their daughter’s birth — finally met her on August 12, 2016. Her name is Amelia and she came 19 months after her older sister, Jocelyn.
Like any parents, Tricia and Joel just wanted to cherish the timeless moment. But Joel noticed something different about his daughter as she lay on her mother’s chest.
“I remember him asking, ‘What’s wrong with her fingers?’ I check them out and thought, ‘They do look strange, but they’re perfect.’ Then, he examined her toes and exclaimed, ‘What’s wrong with her toes?!’ At that point, the doctor yelled to the staff to get the [newborn intensive care unit (NICU)] team as soon as possible.” (1)
In what felt like a blur, Tricia found herself suddenly alone — her baby taken to the NICU and her husband out of the delivery room seeking answers.
The first days of Amelia’s life were a whirlwind and while the journey wasn’t going to be easy, they where they had to start: Apert syndrome.
What is Apert syndrome?
Also known medically as “acrocephalosyndactyly,” Apert syndrome “is a genetic disorder characterized by deformities of the skull, face, and limbs. [It] can occur between 1 out of every 60,000 to 80,000 births… Other features of the genetic disorder may include prominent eyes, crowded teeth, cleft palate, hearing loss, fused spinal bones, severe acne.” (2)
Or, as Tricia puts it, Apert syndrome is a premature fusion of bones — i.e., craniosynostosis.
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Apert syndrome symptoms
In addition to the symptoms mentioned above, individuals with this genetic disorder may have:
- Tall skull
- High prominent forehead
- Underdeveloped upper jaw
- Eyes that appear to be bulging out and widely spaced
- Small nose
- Fused fingers and toes
- Vision problems
- Slower mental development
- Difficulty breathing
- Increased perspiration
Learning everything they could about Apert syndrome, Tricia and Joel questioned whether Amelia’s genetic disorder was their fault.
Unfortunately, the precise cause remains unknown. There is no known medication, activity or food that can cause Apert syndrome during pregnancy. However, doctors think it has to do with a genetic mutation that occurs during the early stages of pregnancy called “fibroblast growth factor receptor 2.” (2)
Amelia’s adventure with Apert syndrome
Within the first five months, the Brusk family was averaging four to six appointments per week. They went from doctor consultations to therapies to what has now been nine surgeries. Brusk even started seeing a therapist to help with her mental health.
On January 9, 2017, Amelia had her first surgery — “a frontal orbital advancement, where they took off a part of her skull, reshaped it, and put it back on.”
Then on May 31, 2017, Amelia underwent “an operation called syndactyly release to separate her fingers.”
Subsequent operations included:
- Cleft palate repair
- Ear tubes
- More skull reshaping
- Tear duct stents
- Legs and arms surgery
Onward and upward
Amelia’s parents have been continually blown away at how resilient their daughter has been throughout the whole journey. Even when she had casts on her arms and legs, she still learned to walk!
Now, with Amelia at an age where she can start preschool, her mother is nervous.
“I see how other kids look at her in the park. I know her face, fingers and toes look different. I’m also excited. I see how her personality shines bright and how she can make friends with just about anyone. I see how she sticks up for herself already and doesn’t let her differences stop her from being her. She has a lot more surgeries to overcome. She has a lot more stares to ignore. I have a little girl. Her name is Amelia, and she just wants to be loved.”
In just three years, Amelia and her family have been through hell and back. But their story will surely be one that continues to inspire many families experiencing hardship.
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