A referral...and a diagnosis.

For those of you who don’t know, Cara was referred to a geneticist by our pediatrician after some initial DNA testing came back normal. Our beautiful baby girl has some abnormal facial features that the geneticist believed to be associated with premature fusing of the cranial bones. He referred us for a CT, which we opted to do in Columbia because the geneticist preferred the surgical approach of the team there, and it would allow him to better manage Cara’s care.

Cara’s CT appointment Tuesday went about as well as it could have gone. She was a champ during her required 5 hour fast and slept the entire 3-hour drive from Springfield to Columbia. She was given a small dose of oral anesthetic (pentabarb for you medical people) and went to sleep within 10 minutes for Andrew. The CT took about 5 minutes (it took longer to transport her to the exam room than it did to run the test). I was allowed to hold her on the way back upstairs and until she woke up, which was maybe another 20 or 30 minutes. Her vitals were awesome, so we were sent home. Andrew and I grabbed a bite to eat at Applebee’s (where Andrew ate free for Veteran’s Day!), and Cara only complained for the last 15 minutes of our drive home. She’s a rock star!

We weren’t expecting to hear results until next week, but I got a call from the genetic counselor today. She confirmed the geneticist’s diagnosis of craniosynostosis, though only one (not several) of the sutures is fused (top of her head from ear to ear). Surgery will be needed for that. I also heard from the surgical team today, and we have an appointment with them in December. At that time, the surgical team will discuss with us their plan for surgery (both what to do and when). The nurse explained to me that unless there are signs of intracranial pressure, the ideal time to do this type of surgery is between 9 and 11 months of age (Feb. – Apr. for us).

We don’t know a lot about what to expect from the surgery in terms of recovery yet, but we feel really good about this surgical team. The nurses we saw yesterday spoke highly of the surgeon (which we know they don’t have to do), and the nurse practitioner I spoke to today gave us a lot of confidence in their experience. When I told her that we were only 2 weeks into this whole thing and didn’t know a whole lot, she recommended that we read information from their website (not the crazy internet!) and that we just focus on bringing Cara to her appointments. The surgical team would take care of the rest.

Our geneticist will decide later whether to pursue genetic testing to determine if the craniosynostosis is symptomatic of a genetic syndrome (in which case other symptoms might later manifest) or just an isolated occurrence.

Knowing what we’re dealing with has given us a sense of peace, honestly. We have a lot of questions that still need answering, but we trust that God will continue to be sovereign in all of this. We trust Him to bring full healing to our sweet girl, and we trust Him to provide us with all of the other job/insurance/re-location/etc. details in the right timing.

Carolyn is beautiful and perfect already, just as God made her. Any scars that such a surgery might leave visible will only enhance her beauty to us and help us all tell the story of God’s grace and mercy.

Thank you for joining us in prayer.

You can read more about her condition and meet her team of doctors here: http://smilesforkids.missouri.edu/common-conditions/craniosynostosis/