Mom Opens Up About Life with Daughter Who Has Rare Genetic Disorder: 'She's a Happy Girl'

Amanda Schuster says her daughter Emmy is "happy" and "smiles all the time" despite her health issues

Photo: Sarah Sweetman Photography

Amanda Schuster, 40, and her husband, 38-year-old Robert Schuster, thought everything was fine in the early weeks of her pregnancy with their daughter Emmy in 2017. But during a 20-week checkup, the couple got some devastating news.

“The doctors that looked at our scans told us [Emmy] had a skeletal dysplasia that would be incompatible with life. It was very scary. It was very dire,” the Seattle-area mom of two tells PEOPLE.

“I was angry. We spent 20 weeks thinking everything was fine. We were told her life was going to be miserable and she was going to die. It was very worst-case scenario.”

Schuster says doctors instructed her to terminate the pregnancy, believing that Emmy wouldn’t live long. But the determined parents wanted a second opinion. So they went to Seattle Children’s Hospital where doctors diagnosed Emmy with Pfeiffer syndrome.

Emmy Schuster. Courtesy Amanda Schuster

“I had never heard of it before,” Schuster says. “It was scary and my initial reaction was I wanted to go home and research. Don’t Google Pfeiffer syndrome, it’s a nightmare.”

Pfeiffer syndrome is a rare, genetic disorder in which some skull bones fuse together and grow abnormally, according to the National Institute of Health. The growth usually leaves children with high foreheads, wide-set eyes, an underdeveloped jaw and an altered nose. The illness affects one in 100,000 people, the NIH reported.

Courtesy Amanda Schuster

Schuster says that although she knew the syndrome would lead to a life filled with surgeries for her daughter, she was grateful that her baby would live.

“The doctor gave us the honest reality of what life would look like for her,” she said of the doctor at Seattle Children’s Hospital. “It would require multiple surgeries. But he had treated children with Pfeiffer syndrome … and he sees them go to college and he sees them living happy lives. He gave us hope.”

The couple held on to that hope when they welcomed Emmy on July 13, 2017. Schuster, who also has a 7-year-old son named Baron, gave birth via C-section and wasn’t able to hold Emmy for two days as doctors examined her. She was born with an enlarged skull and eyes that appeared to bulge.

Courtesy Amanda Schuster

“We knew what she would look like, but seeing her in the flesh was different than hearing about it or reading about it,” Schuster tells PEOPLE. “Holding her for the first time was wonderful, but completely terrifying because she had tubes and wires. Getting her into my arms to hold her took two nurses. It was scary, but it was incredible. It was great to finally meet my baby.”

In the months after the birth, Schuster shared updates on Emmy’s health, including photos, on a Facebook page for her family and close friends. But Emmy’s story quickly captured the attention of social media users everywhere, making the little girl an Internet sensation.

Courtesy Amanda Schuster

Schuster set up an Instagram page devoted to the little girl, who is now 18 months old — the account now has more than 14,000 followers.

“It spiraled. It’s been a little overwhelming. I would get messages from parents of kids with Pfeiffer syndrome and it was nice to be able to help new parents through these things we were going through,” she says.

Emmy spent the first four months of her life in the hospital and has endured numerous surgeries on her brain, face and intestines. But Schuster says the little girl couldn’t be happier.

“She smiles all the time and she has a really great disposition,” Schuster gushes. “She’s a happy girl. She loves her brother and she loves her dog. She’s always really happy now that we’re home.”

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