Lightening Strikes - Encephalocele 101

We've spent the past 10 weeks learning about Gianna's diagnosis - here's a quick summary.  An encephalocele is a rare neural tube defect where basically a portion of the skull does not close during development, allowing cerebral spinal fluid (CSF) or brain tissue to develop outside of the skull.  It can be accompanied by a number of things including chromosomal abnormalities, hydrocephalus, neurologic problems, ataxia, microcephaly, and a range of developmental issues. 

So what does this mean for Gianna?  Gianna has an occipital encephalocele, which means it is located in the back/base of her skull.   Her particular diagnosis is seen in about 1 in 10,000 live births.  She has also been diagnosed with hydrocephalus.  Thankfully, her MRI showed that her encephalocele contains only CSF rather than brain tissue. The other good news is that all of the chromosome/genetic tests came back as normal and all of her other organs are developing well.  We will likely never know the cause of her encephalocele - it is largely unknown since there are so few babies born with it to be studied.  As one of the doctors put it to us, "you've been struck by lightening". Once she's born, she'll immediately have an MRI to make sure there's no brain tissue in the encephalocele.  Depending on how she's doing, she'll then have neurosurgery to remove the encephalocele.  If it needs immediate attention, they will do the surgery within 24 hours.  If she is stable, they may wait 2-3 days to let her adjust to life in the "real world".  They won't repair the skull at that time, as it may naturally fuse together as she grows.  Removing the encephalocele may also remove the pressure that is causing the buildup of CSF/hydrocephalus (here's hoping!), if not, she will have another surgery in a few months to insert a permanent shunt to drain the fluid. 

Other than that....well, no one really knows.  Only time will tell how this will wind up affecting her health, her growth and her life.  Part of me is nervous to begin so many unknowns with Gianna at the time of her birth, but the larger part of me is just anxious to have her here to hold, love and heal.