For those of you wondering what, exactly, ended up being wrong with Maia, here it is. She has three problems/potential problems. The first two, congenital cutis aplasia and possible tethering of the spinal cord, is what brought us to CHOC. The third one, extreme sensitivity to propofol (the "Michael Jackson" drug) is what has kept us here longer than expected.
She has Congenital Cutis Aplasia, meaning there is an absence of skin from birth. It isn't common (approx. 3 in 10,000 births) and so there isn't a lot of info online about it, but it is actually most commonly found on the scalp. The condition may be because of the absence of underlying bone structures, or it may be that everything else is fine (i.e. it is just cosmetic, her vertebrae are intact underneath). Maia's is cosmetic. We've been talking with various doctors to understand her problems and it's taken a few days to come together in our minds. Maia will likely undergo a minor surgery in the next few months to correct this skin problem. My understanding is that although it is cosmetic, because it is "indented," the skin defect is lying very, very close to the spine. As it heals it will develop scar tissue, and that scar tissue could form attachments to the spine, which may cause some pulling. So on the one hand, surgery to correct it would be cosmetic, but it would also be preventative of potential future problems.
The skin trouble is what we noticed when she was born. Because it can be caused by absense of underlying bone structure, they wanted to look at the spine underneath by MRI to ensure that the vertebrae were intact and there were no spinal cord issues. Saddleback does MRI's on adults but not infants, which is what brought us to CHOC.
The mild sedation, propofol (despite its infamy from causing Michael Jackson's death, it is a VERY safe sedative and the most common used on infants, complications from its use are very rare), was used in the MRI to keep Maia still. Although there is always some risk in sedating a baby, there was more risk in letting her go home with a potentially exposed spinal cord. Her negative reaction to propofol is what led to the scariest day of my life.
The results of the MRI show that her spinal cord ends just a millimeter or so lower than it should. This means that her spinal cord might be tethered to something that is pulling it down lower than usual. They couldn't confirm this for sure in the MRI, which is why she has "possible spinal cord tethering." There is no immediate risk to this, as she grows it would continue to stretch and probably not cause acutal problems for another decade, however we will become good friends with CHOC's pediatric neurologist over the next couple of years as she has regular checkups, ultrasounds, and another MRI somewhere down the road to see what is happening to her spine as she grows. If it is tethered, untethering it is a very simple corrective procedure. Spinal cord tethering is on the neural tube disorder spectrum, but is on the very, very, very mild end of that spectrum. She has no movement or reflex issues, i.e. she has full use of her body and no immediate consequence to the condition.
The official medical language - Reason for MRI: "There is a tract in the superficial skin/soft tissues of the lower back at the approximate L3-L4 level which connects to the spinal cord." Findings: "There is no evidence of an associated lipoma of myelomeningocele. Low-lying conus terminates at L3-L4, raising concern for possible tethered cord."
So all the news is very good. Getting here was a rough journey, but at the end of the day we can breathe a huge sigh of relief and thank God for a healthy little girl that will grow and develop normally and never even remember that she had any problems as a baby. And when she cries or destroys things or makes me want to pull my hair out with her stubborn personality, I'll just be glad that she is healthy and alive. :-)