I was 20 weeks pregnant with Olivia when, during a routine ultrasound, a large cyst was discovered in her brain. The doctors said they didn't know what this meant yet, but would keep an eye on it with ultrasounds every 4 weeks. At 28 weeks the ultrasound confirmed what they suspected- that her corpus callosum was missing. The neonatologist explained to us that she would likely be severely mentally and developmentally delayed and we were naturally devestated. Over the course of the next few months we came to terms with it and were very excited to become parents! My pregnancy was great, had no complications and even went to 42 weeks before my doctor said we'd better induce. Olivia was born on May 25, 2010 and was a healthy 6 pounds 11.5 ounces. All the nurses said what a beautiful baby she was 🙂
We noticed that her right eye was squinted and she would not open it. When we asked about it we were told that it must have happened when the nurses were evaluating her, and it was normal. When Olivia was just a day old she had a head ultrasound to look at the cyst and an MRI. The MRI revealed that she, of course, had the cyst and Agenesis of the Corpus Callosum; but also had many other abnormalities that we didn't expect. She has Polymicrogyri and Cortical Dysplasia among others. We also discovered that her eye was squinted because it was much smaller than the other, and there was a cyst on the back of it. The doctor said it stopped growing in utero, and it was called microphthalmia. So now she had to see an ophthamologist, neurologist and geneticist. At three days old, the doctors agreed to let us take her home but were apprehensive because she had a bout of apnea, so she spent the first month of her life on an apnea monitor.
It was when she was a month old that the geneticist diagnosed her with Aicardi Sydrome. This wasn't suprising because she fit all of the criteria, but did not have infantile spasms until she was almost 2 months old. Her neurologist started her on Zonegran which did absolutely nothing but make her sick, so we switched to Sabril (500mg 2xday) which has worked wonders. She has gone from having spells every hour or so to only having 1 a day at most. Some days are spasm free 🙂
She had a follow up visit with the Neonatologist who informed us that she was 2 months behind developmentally. We also suspect she has a curve in her spine. Now Olivia is receiving PT at home and is doing great. She is 6 months old now and is starting to lift her head on her own and reach for objects when she can see them, and can bear some weight on her legs now too. She loves to play with toys with bright lights and sound, and she loves to look out the window when the sun is out. She's also babbling and sometimes even laughs! We are hoping that she will learn to hold her head up and sit in the near future.
I will come back and update with her progress 🙂
Thanks for reading!
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*Update- July 29, 2011:
Olivia is now 14 months old and doing well! She is receiving PT, OT and Speech Therapy once a week as well as twice monthly therapy from the School for the Deaf and Blind.
She can now roll from back to belly and from belly to back; and, on a good day, sit propped up on her hands for a moment. She has started using a stander on loan from her PT until she gets her own and we're in the process of also getting her a corner chair, AFOS, and hopefully a bath chair.
She is babbling more.. one day she repeated "Elmo" back to us three times! And the other day I was trying to get her to say Mama and she said Yaya… (close enough!;))
She is also learning to drink from a sippy cup and is getting better at eating from a spoon, but mostly breastfed and growing like a weed.
We started her on Depakote yesterday (in addition to Sabril) after her most recent EEG showed she was having complex partial seizures. We're going to give it a month to see if it helps.
I hope I'm not leaving anything out, it's been a really busy year!
Thanks for reading (again!)