When doctors discovered, during a routine prenatal ultrasound, that Amanda’s baby had some complications, they immediately started discussing options for terminating the pregnancy.

Amanda and her husband, too shocked to make a decision, decided to go for a second opinion from a top craniofacial doctor. This doctor was able to give them more information, information that helped a lot. The doctor let them know this would be a difficult disability, but the kids he sees with a craniofacial disability are happy, healthy, and often he will see them off to college.  “He gave us very straightforward information about it”, Amanda says, “and it gave us a lot of hope”.

There are multiple syndromes where Craniostenosis occurs and the only way to determine which genetic mutation Emmy had was to do an amniocentesis.  Since there are risks with doing an amniocentesis, Amanda opted out of doing one and decided to wait until Emmy was born to receive a diagnosis.  Shortly after the birth, little Emmy was diagnosed with Pfeiffer syndrome.

 

The First Few Months with diagnosis are the Hardest

Emmy spent the first four months of her life in the hospital. That was difficult on the whole family, including Emmy’s six-year-old brother. One parent was always at the hospital with Emmy while the other was at home with their son. No extended family lived nearby to offer their support which made this scenario more difficult.

Because of the sensitivity of Emmy’s diagnosis, one parent would make crucial medical decisions had to be made “on-the-fly”. While Emmy’s parents expected things to be difficult., they didn’t take in to account how unprepared they were for many of the decisions. One day, for example, they were faced with the option to give Emmy a tracheostomy.

What You Need to Know About a Tracheostomy

Emmy was able to breathe on her own, which was phenomenal, however, doctors quickly found she had severe central apnea. Because her skull was pressing on her brainstem and so the parents decided on a tracheostomy to help with the apnea.

The learning curve to caring for Emmy was steep at first. Every day, Emmy’s neck is cleaned and dried to prevent rashes from developing around the trach. The trach itself requires occasional suction and cleaning. Once Emmy’s parents got down a routine for cleaning the area the stress of caring for Emmy’s trach was a breeze.

Working around the tracheostomy does mean, however, it is more difficult to leave the home because it takes two adults in the car to care for Emmy and her trach, and as a result, they don’t get out as much.

What It’s Like Having a Baby with Pfiffer Syndrome

Emmy is now 5 months old, her parents couldn’t imagine their life without her. Even though sweet Emmy does not look like a typical baby, she has had no neurological complications. She is right on par with other babies her age.

Despite how difficult some days can be, Amanda marvels at Emmy’s developments. Amanda says, “Every day is so incredible with her. Seeing Emmy overcome obstacles and thrive makes the challenges a little easier to endure at this stage.”

Amanda and her husband say one of the greatest challenges for them currently is not being able to give their son more attention. They do their best to explain to him that Emmy needs lots of special care right now and that it won’t last forever.

Advice for Expecting Parents Who Have Received a Pfeiffer Syndrome Diagnosis

“If you want to do this, you can, but you have to be flexible”. Amanda says, you can count on your child needing multiple surgeries throughout their life, which is painful to see as the parent. “It’s so difficult, but these kids can be, and often are, incredible.”

Amanda also tells parents to be open to answering questions other kids and people will have about your child.

Amanda said one day when a five-year-old girl laughed at Emmy then said to her mom, “Her eyes are funny”. Amanda wanted to run and cry, but instead decided not to walk away, cry, or scold, but to educate her and her mother about Emmy. Amanda knows giving others this type of education will ultimately help Emmy, and others like her, to be accepted and included.

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