Pfeiffer Syndrome: Hadley

Something Was Wrong

During her 20 week anatomy scan, Kristy was told there were some things that were abnormal with her baby.  At the time, Kristy didn’t think much about it.  She recalled, “we didn’t really think anything of it. I should have because another ultrasound tech came in and did the measurements also, but I didn’t”

After being referred to a maternal fetal specialist, Kristy realized there was something wrong.  She said, “Things just started unfolding.  They didn’t know what it was, they just knew that something was very wrong.  So that was terrifying.”   

With the help of a second specialist and some tests, they were finally given a diagnosis of Pfeiffer syndrome. After receiving a diagnosis, Kristy and her husband Andrew worried about what life would be like for their daughter.  

Pfeiffer syndrome is a genetic disorder that causes abnormalities of the skull, face and limbs.  

Unwanted Comments

While in the waiting room at a doctors office Kristy has received nasty comments such as, “DId you know she was going to be born like that?”  Andrew said, “I’ve been asked point blank in a therapy office by another parent about if we were given the option to abort.” 

He added “It’s pretty invasive, and it is a snap judgment, and you look at the value of a life.  They don’t know my story at that point.”  

Surrounded by Love and Support

Hadley now is total care, this means that she requires help performing everyday tasks both big and small.  Despite this Kristy said, “I love having a girl.  She is just so sweet, always so sweet and smiley and I feel like she knows who we are and gets excited.  She knows her brothers, she loves her dog, It’s not hard to find simple things that are just adorable about her.”

Her brothers joined in the interview and shared their perspective on Hadley.  Oliver shared, “She is five and she likes to watch TV and she likes sleeping.  She is pretty ordinary.  I like to read books with her, listen to music with her and sometimes she listens to me.  She laughs and smiles and sometimes she talks and sings.”  He later added “So at first without surgery she looks very different, but I realized that doesn’t really matter.  Everybody is different, everybody has their problems.”

Her other brother Micah said how much he likes to play peek-a-boo with Hadley and how he also sometimes gets to pick out her outfits

Hadley’s grandparents were also able to add their thoughts about Hadley.  Her grandma said, “You know they say special needs, well we all have special needs..she is easy to be around.  She is a happy little girl.”

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Exceeding Expectations

20 Week Scan Reveals Abnormalities

Amanda found out that Emmy had some abnormalities at the 20 week ultrasound.  She recalls, “I’m an older mother, so we had all the DNA testing for all the different things that they test for, and all that came back completely normal..watching the technician go over and over the same areas, and we just knew immediately that something was not right.”  

After the 20 week ultrasound they saw a doctor who was not very helpful.  She wasn’t able to provide them with any additional information besides termination options.  Amanda had this to say about it “we are the kind of people who want to have a second opinion…we saw a top craniofacial doctor.” That doctor was able to provide information and stories of hope from other children with Pfeiffer syndrome. 

What is Pfeiffer Syndrome?

“Not many people have heard of pfeiffer syndrome.  It’s about a 1-in-100,000-births syndrome that has multiple issues.  The most obvious is the craniosynostosis, which is early skull fusion..she had pretty significant proctosis, which is bulging of the eyes due to shallow orbital sockets, and her skull is oddly shaped because of the way it had already began to fuse.  That can cause multiple neurological issues..some pfeiffer syndrome specific markers are white thumb, white toes.”

Emmy’s diagnosis didn’t officially come until after she was born.  

Challenges that Come with a Rare Diagnosis

“Emmy was born in July, and she spent the first four months of her life in the hospital. That was pretty difficult for us as a family..we had to make some tough choices as far as how to treat her.  She got a tracheostomy and had to get a rotation in her bowels fixed.”

Amanda explained being 2,000 miles away from family has been hard.  The lack of support system makes it hard for their 6 year old son as well was their ability to leave the house.  Emmy requires two adults in the car to travel places.  

The Joys One Little Girl can Bring

“Everyday is so incredible with her, because we are seeing so many signs that she’s developing.  All of the doctors would tell us that they never thought she would be able to breathe on her own, and she can..she was able to do these things that they kept telling us she would not be able to do, and she keeps doing that every day.”  Amanda shared.  

Daily Routine for a Baby with Disabilities

Besides caring for a trach, Amanda talks about how Emmy isn’t much different than most babies. She described their daily routine, “Everyday we have to do trach care, where we clean around her neck and make sure everything is nice and clean and dry, and she’s not getting rashes or anything around the trach.”

“It was one of those things where we thought it was going to be so difficult and so complex once we got home, and we were so overwhelmed with how we were going to do everything, but it turned out to be kind of easy.  Once you get into the routine of it, it’s not bad; the trach care is actually pretty minimal.”

Rolling with the Punches

Amanda shared some great pieces of advice for parents who received a similar diagnosis.  “If you want to do this, you can, but you have to roll with the punches..it’s so difficult, but these kids can be, and often are, incredible.”  

She then shared how to approach Emmy, “I love answering questions about Emmy, because she is so incredible..we want people to be interested in Emmy, and we want people to be kind to her, but we want questions about her, and hopefully that will lead to her being included more when she is older.”

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