Photo by Adrienne Barnett @heydrin

Pfeiffer Syndrome Awareness Month

My son is one in 100,000 babies born with Pfeiffer syndrome. Due to his syndrome, he has complex medical needs and a facial difference. Since March is Pfeiffer Syndrome Awareness Month, I want to celebrate by educating as many people as I can about Pfeiffer syndrome to create acceptance for my son and all of the other people in the world with this rare syndrome.

The main medical complication in people with Pfeiffer Syndrome is called craniosynostosis. I know this is is a beast of a word, so I will do my best to break it down.

cranio – skull

syn – together

ostosis- relating to bone

Typically when a baby is born their skull is made up of different bones that are held together by joints made of fibrous tissue. These joints are called sutures. In most children, these remain open until around the age of two in order to allow the head to expand and accommodate brain growth.

In children with Pfeiffer Syndrome these sutures close before brain growth is complete. Some babies sutures are fused at birth. Therefore, the brain doesn’t have room to develop in its normal pattern. To sum this all up in one sentence, this early fusion of the sutures is called craniosynostosis.

In order to give the brain the space it needs, children with Pfeiffer syndrome undergo an average of 2-4 Cranial Vault Remodeling (CVR) surgeries in their lifetimes. My son was 16 months-old when he underwent his first CVR.  During this operation, a neurosurgeon performed a craniotomy, which is a fancy way to say he surgically divided my son’s skull into pieces. Immediately after this, a craniofacial surgeon rearranged these pieces in a way that opened up the space that his brain needs to grow. Dissolvable stitches hold his new skull formation into place.

Photo by Adrienne Barnett @heydrin

Other than necessary skull surgeries, there is no way to know what other issues a child with Pfeiffer syndrome will encounter. Some children are born with fused fingers and toes, intestinal malrotations and hydrocephalus. Others end up needing tracheostomies, hearing aides and feeding tubes.

So far my son lives with three extra medical needs.

Due to his narrow upper airway, my son suffers from obstructive sleep apnea. At night he wears a CPAP machine to help with his breathing. He also takes medicine every day for his severe acid reflux. His reflux is so painful for him that, if we don’t treat it, he has spasms where it looks like he stops breathing (Sandifer syndrome). He is also missing a muscle in his left eye and he will undergo surgery this later this year to start correcting the resulting misalignment in his vision.

I am unsure of what other physical difficulties my son will face over the years, but I know that there will be social issues for him due to his syndrome. Children with Pfeiffer have a distinctive appearance because the bones in their faces grow differently.  One feature that typically causes these kids stand out is the unusually large appearance of their eyes. Due to their facial differences, these children are often stared at and teased.

My son has been called “scary,” “creepy” and “freaky” on many occasions.

Despite their physical differences, most children with Pfeiffer syndrome have normal intelligence. So even if they can’t talk because they have a tracheostomy or they can’t hear well because of their small ear canals, they understand the words and the stares directed at them. My son is currently too young to understand the comments other children make, but one day he will. I dread that day.

Photo by Adrienne Barnett @heydrin

As the mother of a child with complex medical needs and a facial difference, there is nothing I want more in the world than for my son to be accepted.

A new event is being held to support Pfeiffer Syndrome Awareness Month. A Race for Every Face!! 5k & Fun Run! will be held March 30 in San Antonio. My family and I would love for people to join us to fight for awareness for these special people. If you can’t make the drive you can also attend virtually! Basically, this means you do the run in Austin as part of your regular morning walk or jog and send in a screenshot of your completion.

If you are interested in learning more about my family’s journey with Pfeiffer syndrome, please visit my blog: The Happiness Syndrome.




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