Our hearts were first crushed at what we thought was going to be a routine ultrasound. The tech had a very tense look on her face and left the room, making some excuse about needing the doctor's help with the images. Even though it was our first time, my husband and I both knew this wasn't good. "We've found some anomalies," the doctor said. Her kidneys looked inflamed, she had a chloroplexis cyst, and only two vessels on her umbilical cord. They recommended an amnio, so we did one and were relieved when they called the next day to say her chromosomes were normal.
We went into our next ultrasound thinking it couldn't possibly go any worse than the first one, but it did. The tech left to get the doctor again, and this time they said the corpus callosum appeared to be missing. By the end of the week, I was stuffed into an MRI tube (bad enough on anyone who's claustrophic, but even worse when you're pregnant) which only confirmed the bad news.
We were transferred to a high-risk OB group at a nearby research hospital, which may have been the best thing for Chloe, but they had absolutely terrible patient care on my part. After being told I would give birth in the OR because there was "more room for all the med students to watch" (just what I always wanted- to be a science experiment), I wound up in a hasty C-section. Chloe was immediately whisked away to the Nicu, all 12 of my "doctors" disappeared and I was left with no info about her, or even how to manage my pain meds.
The Nicu turned out to be in another building, which meant I couldn't even see Chloe until the next day. She was on oxygen and we were told she was "floppy"- but she looked like such an angel. We got one day to enjoy her, and then an eye doctor looked at her optic nerve and casually announced, "looks like Aiciardi syndrome!"
A large team of doctors met with us to discuss Aicardi and taught us to be prepared for infantile spasms as well as a lifetime of feeding and cognitive problems. We were absolutely devastated, yet again. This was our first baby, and neither of us has ever had a health problem aside from sprained ankles. We couldn't figure out why this had happened. It was the first time I'd ever seen my husband cry.
We took Chloe home, on edge but reluctantly realizing that any day without seizures would have to be considered a good day. Life was not turning out to be what we'd expected. Well, here we are, 18 months later, and I'm thrilled to report that Chloe has NEVER had a spasm or a seizure!
That's not to say things have been absolutely perfect. Chloe has low muscle tone, which has caused some other problems. During her first year of life, she got 5 uti's and had to be hospitalized for IV-antibiotics (watching them try- and fail- to place an IV in her is the absolute worst thing to watch). She's also had hip dysplasia that we were unable to fix, in spite of several attempts with braces, etc- so now she's scheduled to have surgery soon that will leave her in a huge body cast while the joint stabilizes.
But, in spite of these issues and the low muscle tone, which leaves her behind in terms of gross motor skills, Chloe is a happy, bright, beautiful girl who brings so much joy to our lives. We don't really know what the future holds or what new problems will crop up (there's always something)- but, she learns things quickly and is very engaged in her surroundings. She was sitting independently by her first birthday, and if we could just get her hip fixed maybe we could make some progress with standing. She's not saying words yet but, as the speech therapist says, she "responds" well and has good intonation- only seems to have trouble with consonants because of her low muscle tone. She seems to pick up on a lot of what we say and follows commands, such as "turn the page," "pet the dog," etc. And she laughs hysterically when people sneeze! It's so cute!
Because of the optic nerve issues with Aicardi, Chloe gets vision therapy once a month, but they say she is doing very well. We've worked on having her track objects across the midline, which she does consistently now.
And we chuckle now when we remember the doctors telling us Chloe would have trouble eating. Chloe loves food! We started her on real solids at 6 months- bananas, avocados, Cheerios soon after- and she's never had any problems. Now she loves munching on crusty bread, chicken, fruit slices, pretty much anything she can get her hands on (and she's got the pudge to show it!). She hasn't transitioned to a sippy cup yet- we think the low muscle tone in her lips might be a factor- but she feeds herself bottles of milk and seems like she would drink as much as we would let her!
It's been a very long, painful road, but I guess my hope in sharing Chloe's story is that others who are suddenly dealing with this horrendous diagnosis can see how much potential their daughter has. I cried so much before Chloe was even born because I was certain the ACC meant she'd be destined to have a miserable life. Our pediatrician is absolutely wonderful and said from the beginning, "No one can tell you what a child's life will be like."