Earlier this week, I received the best news.
The genetic counselors at UNC diagnosed Avery with Crouzon Syndrome based on her physical presentation at birth. To confirm, several vials of blood were sent off for testing: chromosomal and genetic.
Her chromosome results were the first to return and told us nothing more than that she is a girl. Big shock. No chromosomal abnormalities, which was consistent with Crouzon Syndrome. Some time later, we received word that her initial genetic testing had come back negative for any mutations as well. While that may sound like good news, it wasn't. Avery was tested for the more common gene mutation (FGFR 2, with the mutations occurring in exon 8 and 10, if you're wondering), which meant a negative result could mean that she had a less common, more severe form of the syndrome, or CAN (Crouzon Syndrome with Acanthosis Nigracans). The more rare form of Crouzon would mean we would wait for new symptoms to appear. It is associated with different cancers and shortened life expectancy, to name a few. The genetic counselors sent for additional testing that would examine every gene mutation associated with all known craniosynostosis syndromes.
We waited the agonizing 10 weeks and received word last week...
All of Avery's genes are normal. She does not have Crouzon Syndrome or any other of the known craniosynostosis syndromes.
We've been offered one more set of tests before we are at a dead-end in finding genetic answers for Avery's condition. A third party genetic testing company heard of Avery and asked to do testing on ALL of her genes, and mine, and Cody's. Free of charge, of course, because everybody wants to be the one to discover a new syndrome. We agreed and will wait 3 months for the results. In the meantime, we are considering this news a great WIN.
Cody and I have maintained that Avery's birth defects have enviromental causes, so we were hoping for these results. Obviously, we were hoping she wouldn't have a syndrome as well, though, we can't be sure of that yet either.
As I shared the news with family the other day, I said without thinking, "See! This IS enviromental after all. Unless it was genetic and God is rewriting her genetic sequences." After I uttered the words, I caught myself and thought, are you crazy? Do you really believe He could do that?
And I realized, yes, I totally do.
I believe it is well within the realm of possibility that God is reaching down, and rewiring Avery's genes, healing her "from the ground up", at His own pace, in His own way. I've been believing for a miracle since before she was born, because my God is the same God who parted the Red Sea and made the walls of Jericho crumble. Sometimes His game plan seems crazy.... March around the walls of Jericho HOW MANY TIMES?! But, I believe His ways can be trusted, so I'm going to keep believing the impossible. And maybe that's a little crazy, but I'm okay with that.
If you are reading this and facing a "wall" in your own life, I pray that you remember Who is on your side and all that He can do. There is no relationship that He can not mend, no diagnosis too hard for Him to heal, no wayward child too far gone to be brought home, no financial issue He can't resolve, no womb He can't open, no loved one He cannot protect...
My God is the God of the impossible. Impossible is where He starts.