Within the first hour of our son, Holden, being born the doctors knew something wasn’t quite right based on the unusual appearance of his eyes. Down syndrome was the first syndrome mentioned. After that it went something like: Crouzon syndrome, Wolf-Hirschhorn syndrome, Apert syndrome, craniosynostosis syndrome, FGFR syndrome, and Pfeiffer syndrome. I know there were more, but since I heard all of this in a postpartum haze, these are the only ones I remember now.

What my husband and I have learned in the months following Holden’s birth is that he likely has a mild, Type 1 Pfeiffer syndrome, but insurance has yet to approve the genetic testing.  Until insurance believes this testing is “worth it” my family lives in limbo, knowing there is a chance that Holden may have a different craniosynostosis syndrome.

Yep – CRANIOSYNOSTOSIS. What a word. Just rolls off the tongue, right? I work in the medical field and had no idea what that meant until now. So, here’s my attempt to explain what I have learned over the last 6 months.

cranio – skull

syn – together

ostosis – relating to bone

Most people are born with open sutures in their skulls that slowly fuse over the first few years of their lives. In babies with craniosynostosis syndromes, these sutures fuse too early and the brain does not have room to grow in its normal pattern. The brain will, therefore, grow into the open spaces that do exist and likely cause an abnormal head shape. Some babies are born with their sutures already fused and immediately go into surgery.  Doctors cannot say for sure, but anticipate Holden’s first surgery will occur when he is around 15-18 months-old.

The first surgery Holden will likely undergo is a Cranial Vault Reconstruction. It is brutal and it is terrifying.  I can’t think about it anymore because it is too overwhelming. I am learning to deal with things “one day at a time” as my husband keeps advising me.

I wish I could tell you that this is the full extent of the issues Holden will face. Chances are, it is not. The premature fusion of the skull can result in various medical complications and there is no clear path that Pfeiffer syndrome follows. We have no idea which, if any, of these things will happen to Holden, but here are some of the issues these children come up against: sleep apnea, intestinal malrotation, tracheostomies, hearing loss, and vision problems.  I have spent months agonizing about all of these possibilities happening to Holden and it has been hard to tell myself to stop worrying until one actually becomes a reality for him. The unknown is something I have never been good at handling.

One question that keeps coming up is whether or not Holden will have developmental delay. Type 1 Pfeiffer syndrome is not typically associated with these types of issues, but as is the case with any baby, it’s impossible to say in the early days what their intellectual capabilities will be further down the road. So far, our little rockstar is hitting milestone after milestone. Just last week he started holding his own bottle and now he is up on all fours getting ready to crawl - watch out world!

The first months of Holden’s life, I sat in my bed with him in the bassinet beside me, 24 hours a day, 7 days a week, researching all of the syndromes I mentioned upfront. I obsessively inspected every detail of his tiny body. I measured the size of his ears and stared at their placement for hours on end until I was nearly hallucinating. I measured the width of his toes; I measured the space between his eyes; and I cried and cried and cried. I cried out of love, I cried out of grief, I cried out of fear.

Then, after about five months, the tears (mostly) stopped and I have been able to see past my own fears and worries and focus on this loving little boy, my son - Holden Joseph Smith. He has an extremely rare genetic syndrome (15 in one million to be exact), but he is not a syndrome. He has a facial difference, but he also has the sweetest smile, the brightest eyes, the loudest squeals and he may just be a doctor one day.