Meet Sophia

I'm writing this blog so that everyone can keep up on the triumphs & tribulations of our angel, Sophia.  Sophia has joined our son, Andrew, as the absolute loves of our lives and has brought us so much joy in the 4 1/2 months since her birth.  Having said this, we have also had our share of ups and downs.  To be honest, we feel as though we have been on a never ending roller coaster ride over the last couple of months.  

I'll tell you about our journey so far. I had a fairly normal pregnancy with Sophia although I did have a bleed at 14 weeks which was attributed to placenta previa, which resolved.  I went on bed rest for a week and then was cleared to return to work doing a sedentary job.  I did everything I was supposed to do - ate well, took my prenatal vitamins, avoided certain foods and drinks, and even avoided lifting our son, Andrew, after the bleed.  I've never been a drinker or smoker, so that wasn't even an issue.  Everything in the pregnancy was going well for us until a routine ultrasound at 36 weeks.  My OB became concerned that Sophia's head was measuring smaller than it should for her gestational age. She sent me to my high risk OB for a confirmation ultrasound and she too confirmed that Sophia's head was smaller than normal. However, at the time both doctors told me that it was probably nothing and that she was just petite & that there wasn't anything to worry about.

Well, Sophia was born at 39 weeks & 1 day - weighing 6lbs 9oz. She looked perfect & absolutely beautiful!  We were on top of the world - God had given us a wonderful gift, a baby girl!  The first girl in our family! The pediatricians that saw Sophia noted that her head measured less than the 5th percentile. They ran some tests while we were in the hospital to test for CMV, various infections and other viruses which may have lead to her smaller than normal head.  All the tests came back negative and she passed her newborn hearing screen.  The doctors said, "she is just a petite girl" and that we would "just watch it." So, Sophia came home with us from the hospital on time and we went about our normal lives with a newborn.

At about 1 1/2 - 2 months I started noticing that Sophia had these very rapid erratic eye movements, that she couldn't focus on anything, and didn't seem to look at me when I was breastfeeding. At her 2 month checkup, her pediatrician also noticed the eye movements and told me "that's not normal." He diagnosed Sophia with nystagmus (involuntary eye movements) & microcephaly (little head) and referred us to a pediatric ophthalmologist & a neurologist.  We were able to get an appointment with a pediatric ophthalmologist the next week.  During his eye exam he noted that Sophia has retinal lacunae (holes in the retina).  He was unsure of her visual status (i.e., if she can see or not).  He gave us a preliminary diagnosis of Aicardi Syndrome and told us that she needed to have an MRI and see a neurologist as soon as possible.

Since this appointment, Sophia has had numerous tests including an MRI, CT scan, EEG, ERG and VEP test.  She has seen a neurologist, 2 ophthalmologists, her pediatrician, and we have appointments coming up with a retinal specialist, developmental pediatrician, geneticist and hopefully a neurologist who has treated some girls with Aicardi.  We have also enrolled her in the ECI program (Early Childhood Intervention).  They have committed to working with her at least once per week, sometimes multiple times a week in the areas of occupational therapy, development, vision therapy and also providing us a counselor twice a month.  They will also help us start applying for all of the programs out there which are set up to help special needs and medically fragile children.  We have a lot to learn, as this is a path that we never could have imagined going down.  


As of right now, Sophia has a tentative diagnosis of Aicardi.  She has been diagnosed with microcephaly, nystagmus, retinal lacunae & exotropia. She also appears to be blind.  All this said, we seem to really have our work cut out for us.

We would truly appreciate your continued prayers for our family.  For strength, wisdom, discernment and most importantly healing for our beautiful baby girl!  I will do my very best to update this blog weekly with Sophia's latest & greatest, including the updates from her doctor's visits and tests.

Here are some links for more information about Aicardi:

http://www.aicardisyndrome.org/site/node/1

http://www.ninds.nih.gov/disorders/aicardi/aicardi.htm