Avery is one in a million.
No, literally.... Okay, it's more like 16 out of 1,000,000 but "one in a million" is close enough.
Avery has been diagnosed with Crouzon syndrome, the most common of the craniosynostosis syndromes but still incredibly rare, occurring in about 16 out of every 1,000,000 live births. Cody or I may carry some form of the mutated gene, but since neither of us have the physical characteristics it's almost certain that Avery's condition was a spontaneous FGFR 2 gene mutation that occurred at the time of conception.
It is common to find additional issues associated with Crouzon syndrome, like the choanal atresia in Avery's case. Yesterday we also discovered that she has a duplicate kidney on the left side and a moderate-sized heart lesion (a hole between the right and left atrium). It is more than likely that she also has some level of hearing loss and vision impairment. Her hearing will be checked sometime soon but I will be looking for signs of vision issues with her at home when she's a few months old.
Thankfully, it seems that both the kidney and heart issue will not require immediate surgery and may even resolve over time, simply requiring additional imaging and follow-up in the coming months. Too easy, right?!
Our next hurtle is the surgery to correct the choanal atresia so that Avery can breathe through her nose and *Lord willing* learn to nurse, maintain her weight and healthy vitals and be released to GO HOME. The CT scan revealed bilateral stenosis of her nasal passages, requiring a rather invasive operation. Surgery to correct the craniosynostosis will be performed when she's about 6 months old since Avery is not exhibiting any signs of intercranial pressure (praise!).
Individuals with Crouzon syndrome often have normal intelligence and life spans. Of all the possible syndromic diagnoses, it is the one with the best long-term outcome! We expect that she will have many surgeries and lots of medical interaction in the coming years, but that overall she will be a healthy, active, vivacious girl. Besides the obvious facial and skull anomalies, Avery's limbs and outward extremities are completely normal (no webbing of hands and feet or limb asymmetry).
I wish I could say we were experiencing constant peace and accepting the news of her conditions with total ease, but we are human. I have spent a few evenings curled up on my bed, listening to worship music and simply sobbing. Crying can be worship too, right? Hehe. The Lord keeps telling me that it's OK and healthy to experience the entire spectrum of emotions, including anger and disappointment with Him. "I can handle it," He assures me. Hehe. At times I feel like I'm swimming in the Lord's grace and other times I'm actively hunting it down as I deal with the grief that comes from the death of the dream I had for Avery's life. Ultimately I know, however, that she is His before she is mine and He only does what is good and right. More than anything though, I am totally in awe of our little gift. Even as I sit on my bed writing this, my eyes well up with tears at the thought of Avery Jane. My heart could just burst with love for my baby. I know that her appearance is jarring to some and still causing adjustment and pain in certain hearts, but to me, she couldn't be more perfect and beautiful. I can't help but feel like I am getting an insider's look into how God sees each of us when I look at her. To the world her imperfections are obvious, but to me every glimpse of her sweet face fills my heart with unspeakable joy. I feel so equipped and ready to be her mama on this unique journey, like God's been preparing me all this time. Gosh, He really does always know what He's doing.
THANK YOU to everyone that has reached out to us, both here in Chapel Hill and at home (shoot, from all around the world now that I think of it!). I WILL be responding to each of you in time, we've just been in a whirlwind of information and emotion the last couple of days. If I haven't reached back, it's not because I don't want to but simply because I haven't had a chance to! Your intercession, care and concern, your kind comments and each "like" on my baby's picture is like a tiny boost of energy to me. I know I say it all the time, but thank you, thank you, thank you.
To my family caring for my babies back at home: you are truly the hands and feet of Jesus to me right now. I couldn't do this without you.
Love to you all-