Her mitochondrial testing came back normal, other than some variances that could lead to Alzheimer's or bipolar disorder later in life. When questioned, she did say that if any of us had mitochondrial testing, there would always be something found. No one's DNA is perfect.
The test for congenital metabolic disorder of glycosylation was not run. Something happened with her specimen and the office was just notified 2 months later :( Hate that she had that blood draw for no reason. We will not have this re-drawn, as I researched it and she has no symptoms other than some extra dimples on her body. I, too, have extra dimples on my body. Just had to throw out a little humor there :)
The testing for Rhett will not be covered by insurance, as she does not have microcephaly or seizure disorder. It will be $1500 at Baylor if we decide to have it done. The jury is still out on that one. It is not the money. We just really don't think she has it.
She gave us some further testing options including more chromosomal testing that would hit 1.8 million probes rather than the half million in her previous testing and/or more metabolic testing with a specialist at Cooks Children Medical Center in Fort Worth. We are seriously considering the latter, but it would most certainly include a spinal tap. Gulp.
Please pray that we make the right decisions regarding her testing. We do not want to put her through more trauma, but if we can help her in any way, we want to go forward. Sometimes we want to just throw our hands up and say "no more" and then those doubts start running through our heads and we want to be aggressive. We accept and love our baby girl for who she is. She is perfect in our eyes :)
Trust in the Lord with all your heart, and lean not on your own understanding; in all your ways acknowledge Him, and He shall direct thy paths.