A Secret Life of Mom Highlight Story: Sometimes there are stories that can help raise and maintain awareness to important subjects. That’s why we scour the archives and bring some of them back to help keep parents in the know. They may be touching, and even make you shed a tear, but the health and wellbeing of our children are what we value most.
Every parent hopes that their children will have a normal life filled with friends, successes, and love. That hope can often seem harder to achieve if their child is born with a disability or another type of problem. This mom has opened up about what it is like having a daughter born with a rare genetic disorder. When she was pregnant, she found out her daughter would be born with Pfeiffer Syndrome, a malformation of the skull. The family is still determined that their daughter will have a happy life, no matter what.
Our Baby Was Born With Pfeiffer Syndrome
40-year-old Amanda Schuster and her husband Robert, 38, had been trying for quite a while to have a baby of their own. They were just about ready to speak to their doctor about options such as IVF when Amanda missed her period. Sure enough, Amanda was pregnant, and the couple was overjoyed. They soon found out that their child would be a little girl and they named her Emmy. Then, at her 20-week scan, the doctors told her that something wasn’t quite right.
“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,” Amanda recalled. (1)
The doctors said that it was better for her to terminate the pregnancy. Not ready to give up on their baby girl, they went for a second opinion at Seattle Children’s Hospital. It was there that the doctors gave her a different diagnosis: Pfeiffer Syndrome.
What Is Pfeiffer Syndrome?
Pfeiffer Syndrome is a genetic condition in which certain skull bones fuse prematurely. This prevents the skull from forming normally and affects the shape of the skull and the face. It can also affect bones in the hands and feet. Pfeiffer Syndrome will often lead to bulging, wide-set eyes, a high forehead, an underdeveloped jaw, and a beaked nose. Hearing loss and dental problems are extremely common. (2)
There are three types: Type 1, 2, and 3. People with type 1 have normal intelligence and life expectancy. Types two and three are more severe and often involve nervous system problems. It can limit brain growth and lead to developmental and neurological problems. These people can also have problems with other bones and joints which limit mobility. Finally, malformations in the face can restrict breathing and even be fatal.
Read: ‘A Miracle Baby’: The Black Couple Who Gave Birth to a Blond, Blue-Eyed Child