Pfeiffer Syndrome as I know it,

My daughter was officially diagnosed with Pfeiffer Syndrome at birth, and now at 12 weeks old, she's had four surgeries. Due to her hospital stay, she will have the typical delays hitting milestones as well as those that come with her syndrome.

One of the questions I often get is,

Will Caliyah have developmental delays?

In short, yes, she will be delayed in some areas when it comes to society's timeline, but our Cali will hit her milestones at her own pace. Common delays will be speech due to her trach, walking due to mobility and bone strength issues, and possible intellectual delays due to her premature fused skull.

At the moment, we are happy to say she is hitting all the typical three-month-old milestones. She has excellent tracking skills, she is amazing at grabbing objects, she is developing strong neck control and more. Our doctors are so impressed with how well she is doing.

When it comes to intellectual delays, we have some control over that by preventing her from getting extreme hydrocephalus ( fluid on the brain due to excess pressure). Intellectual development is all about how she learns.

For kids who don't have craniosynostosis (prematurely fusion of one or more sutures in your skull), their head will have soft spots and not fully fuse until they're two years old. So, imagine your skull being completely fused and your brain wanting to grow but not having any space. Now the pressure will start to create excess fluid, and damage to your brain. This is what causes intellectual delays in PS kids. Our goal is to be proactive with her head surgeries so we can protect her brain, which we've been successful at doing thus far.

In short, we cannot predict the future, but we feel very confident that Caliyah will live a life just like others. She will hit those significant milestones like talking, walking but maybe a little later than non-Pfeiffer kids. Our doctors shared by the age of five, she should catch up to other kids. To help ensure she thrives physically and mentally, she will have a team of therapist in the below areas.

1. Speech and Oral therapy

   Caliyah's trach will prevent her from having strong oral muscles, and we will have to teach her how to eat/swallow, as well as work on her speech. We will lean heavily on ASL and ACC to help her communicate. She will be able to talk with her trach as long as it's capped. Due to these obstacles, her speech, such as saying words will develop later than most toddlers.

2. Physical and occupational therapy

   Caliyah will spend a large portion of her first year of life in the hospital, which means a lot of crib time. Moving her around and out of bed is not as easy as a non-NICU baby. So you can imagine the lack of movement in the early years will create some longterm disadvantages if not addressed. She will most likely not be walking as other kids do at one year of age, more likely closer to 16 months old or later. Caliyah always surprises us, so who knows she could be the exception.

   Working with a physical therapist is critical for her to help her be able to crawl and walker sooner than later. Caliyah also has fused elbows, so she can not fully extend them. This will limit her mobility, which PT is doing their best to help her get the full range of motion in her shoulders to do daily activities. She currently has a PT come bedside and take her through leg and arm exercises weekly. My husband and I also take her through those exercises 3x a week, as well as get her out of bed to help with her development.