Pfeiffer Syndrome as I know it

By now you might have googled Pfeiffer Syndrome to learn that every one of 100,000 kids are born with this genetic disorder. That Pfeiffer Syndrome has many structural abnormalities, such as; fused sutures in one’s skull, which is called craniosynostosis .This creates a tall head, small mid-face, small orbits that lead to forward sitting eyes. Other features are broad thumbs and a big toe that goes away from the body, fused joints in the elbow or legs, extra fluid on the brain known as hydrocephalus, and more.

Every child with Pfeiffer Syndrome is unique. Our daughter doesn’t fit into a Pfeiffer “type classification” box, such as Type I, Type II, or Type III, which goes from mild to severe. Caliyah is a hybrid of all the types and has a particular strand called w290c. This syndrome, like many rare diseases, is one that you must constantly adapt and react to; it doesn’t always have a straightforward trajectory. 

I will share Pfeiffer Syndrome insights through questions I commonly receive. 

Many ask, could you have prevented Pfeiffer Syndrome?

My daughter is 1 of 100,000, and I did not have the power to make her that one. Before I did my research, I wondered if I could have done anything different throughout my pregnancy. Maybe I should have eaten better, did I push myself too much in my workouts? Those days I skipped my prenatal vitamin, could that have done it?

The answer to all of it is no; I had no power over my daughter having Pfeiffer Syndrome. 

The scientific answer- PS is created by a mutation in the FGFR gene and inherited as an autosomal dominant genetic disorder. This meaning that only a single copy of an abnormal gene is necessary to cause the condition. In other cases like ours, neither parent has a history of the disorder, yet we created a new mutation in which Caliyah received. Now that Caliyah has the mutation, she has a 50/50 chance of passing it on to her offspring. 

The fact is that Caliyah had PS from conception, hers just developed later in the womb. Some women see in an ultrasound that their baby has some form of craniosynostosis or syndrome as early as 15 weeks. I had an ultrasound at 20 weeks, and everything looked good. My next ultrasound wasn’t until 36 weeks, and that is when they noticed her abnormal head shape and facial features.

Many parents are dealing with hearing news about their child being diagnosed with a medical condition and having to deal with the initial question of if they could have done something to prevent it. Know that so many things are out of your control. You were picked to be your child’s parent because of the love and strength you possess for your child to thrive in life.