Mother Reveals What Life Is Like For Daughter With Rare Genetic Disorder – ‘She’s A Happy Girl’

Amanda Schuster and her husband Robert were ecstatic when she became pregnant back in 2017, and for the first few weeks of her pregnancy, everything seemed to be going fine. It was only when they went in for Amanda’s 20-week checkup that the couple was given truly terrible 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,” said Amanda, 40. “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.”

Doctors told Amanda that she should terminate the pregnancy, as Emmy would not live long, but the mother refused. Wanting a second opinion, they went to Seattle Children’s Hospital where doctors diagnosed their daughter Emmy with Pfeiffer syndrome.

“I had never heard of it before,” Amanda said. “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 skull bones fuse together and grow abnormally, leaving children with high foreheads, wide-set eyes, an underdeveloped jaw and an altered nose.

Though Amanda knew that Emmy would need lots of surgeries, she was relieved that her daughter would live.

“The doctor gave us the honest reality of what life would look like for her,” she said. “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.”

Amanda gave birth to Emmy on July 13, 2017, and she noticed right away that she had enlarged skull and eyes that appeared to bulge.

“We knew what she would look like, but seeing her in the flesh was different than hearing about it or reading about it,” Amanda said. “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.”

Now 18 months-old, Emmy has become a viral sensation from her Instagram page, that has 14,000 followers.

“It spiraled. It’s been a little overwhelming,” Amanda said. “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.”

Amanda added that Emmy is an incredibly happy little girl.

“She smiles all the time and she has a really great disposition,” Amanda said. “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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