A Mother Opens Up About Life With Her Daughter Suffering From a Rare Genetic Disease: She’s a Happy Girl

Amanda Schuster says her daughter Emmy is “happy” and “smiles all the time” despite her health problems.

Amanda Schuster, 40, and her husband, Robert Schuster, 38, thought all was well during the first weeks of her pregnancy with their daughter Emmy in 2017. But at a checkup at 20 weeks, the couple received devastating news.


“The doctors who examined our scans told us that Emmy had skeletal dysplasia that was incompatible with life. It was very frightening. It was very devastating,” the Seattle-area mother 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 the worst-case scenario.

Mrs. Schuster recounts that the doctors advised her to terminate the pregnancy, believing that Emmy would not live long. But the parents were determined and wanted a second opinion. So they went to Seattle Children’s Hospital, where the doctors diagnosed Emmy with Pfeiffer syndrome.


“I’d never heard of it before,” explains Mrs. Schuster. “It was scary and my first reaction was to go home and do some research. Don’t Google Pfeiffer syndrome, it’s a nightmare.

Pfeiffer syndrome is a rare genetic disorder in which certain bones in the skull fuse and grow abnormally, according to the National Institute of Health. The growth typically leaves children with high foreheads, wide-set eyes, underdeveloped jaws, and altered noses. The disease affects one in every 100,000 people, according to the NIH.


Schuster explains that although she knew the syndrome would lead to a life full of surgeries for her daughter, she was grateful that her baby would live.

“The doctor told us honestly what her life would be like,” she says of the doctor at Seattle Children’s Hospital. “It would require multiple surgeries. But he had treated children with Pfeiffer syndrome…and he could see them going to college and living happy lives. He gave us hope.

The couple clung to that hope when they welcomed Emmy on July 13, 2017. Schuster, who also has a 7-year-old son named Baron, gave birth by C-section and was unable to hold Emmy for two days while doctors examined her. She was born with an enlarged skull and eyes that appeared bulging.


“We knew what she would look like, but seeing her in the flesh was different from what we’d heard or read about it,” Schuster tells PEOPLE. “Holding her for the first time was wonderful, but completely terrifying because she had tubes and wires. It took two nurses to hold her in my arms. It was scary but amazing. It was great to finally meet my baby.”

In the months following the birth, Schuster posted updates on Emmy’s health, including photos, on a Facebook page for family and close friends. But Emmy’s story quickly caught the attention of social media users around the world, making the little girl an Internet sensation.


Schuster created an Instagram page dedicated to the little girl, who is now 18 months old – the account now boasts over 14,000 followers.

“It all went to hell. I was a little overwhelmed. I was getting messages from parents of children 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 hospital, undergoing numerous brain, facial, and bowel surgeries. But Mrs. Schuster says the little girl couldn’t be happier.

“She smiles all the time and has a great temperament,” Schuster enthuses. “She’s a happy girl. She loves her brother and she loves her dog. She’s always very happy when we’re at home.


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