The Beginning of Emily's Story

On August 3^rd   2014, my husband, Bryan, and I found out that I was pregnant! We were over-the-moon excited and couldn’t wait to share our great news with the whole world!  This pregnancy was your typical one – everything looked perfect.  We got to see our little one’s heartbeat flicker on an ultrasound on August 21^st and heard it for the first time on September 18^th. It was the most beautiful sound I’ve ever heard and wanted to keep listening to it forever! On September 30^th, we went for our 1^st trimester screening, not concerned at all, just taking advantage of seeing our baby on an ultrasound again.  During the ultrasound, we got to see our tiny baby jumping around (looking happy, if a baby can look happy in the womb) and got a perfect view of everything, even though she was moving around so much.  As we were waiting for the doctors and marveling over how perfect she looked in the ultrasound picture we got, we couldn’t be happier.   

Then, when the doctors came in to talk to us, our whole world crumbled.  I’ll never forget that dreadful, sinking feeling of being in shock that our perfect baby could have something wrong with her.  They said her nuchal fold was too big, she had fluid around her heart and lungs, and they were sure she had hypoplastic left heart syndrome, which basically means the left side of her heart is not developing.  They offered the possibility of termination and explained the laws in North Carolina and nearby states in regard to limits on gestational age.  They told us she would need at least 3 heart surgeries and she still wouldn’t live very long.  It was heartbreaking.  We were not interested in terminating this pregnancy and felt that our baby has lived his long, and will live as long as she’s meant to.  We had a CVS test done that day to find out if she had anything genetic, such as Down Syndrome, Turner’s Syndrome, etc. We also went over to the Children’s Hospital to see a Pediatric Cardiologist to have an ECHO of her heart.  The doctor said that while the valves and structures of her heart were a little on the small side, they still fell into the “normal” category for being only 12 weeks gestation.  He said he wasn’t worried about hypoplastic left heart syndrome but there was fluid around the heart that he wanted to monitor.  So within those 6 hours, we had quite a roller coaster of emotions.  It was one of the hardest days we’ve had.  We just didn’t know what to think or how to cope. 

 A week later, we got the results of the genetic testing and everything came back NORMAL!  We also found out that we were having a GIRL!!  I always imagined we would find out by looking at the ultrasound, not over the phone while finding out that her chromosomes are normal but I couldn’t help myself.  With that information right there, I just HAD to know! I told Bryan over the phone at work, while keeping it a secret from everyone else!  

We made a plan to have ultrasounds every 4 weeks to monitor her heart and see if there were any other issues.  On October 28^th, at 16 weeks, we had another ECHO, which showed the same thing – the valves and structures were a little small but all present, proportional and in the right places.  Blood was flowing where it was supposed to.  There was still fluid around the heart.  The fluid around her lungs wasn’t there anymore.

However, there was some extra cerebrospinal fluid in her lateral ventricles in her brain and she was diagnosed with ventriculomegaly.  This was now our biggest concern.  Normal lateral ventricles should measure 5-6mm and Emily’s ventricles measured 10.3mm and 10.4mm.   Any measurement from 10mm-15mm is mild to moderate and anything over 15mm is severe.  On November 13^th, at 18 weeks, the ventricles increased to 16mm each, making Emily’s ventriculomegaly severe.  On December 12^th, at 22 weeks, her ventricles measured 19.5mm each and it was clear that they would probably keep increasing but it was impossible to predict how much. Everyone has cerebrospinal fluid in their brain that flows through and around the brain, cushioning it from movement and falls to protect itself.  The fluid is reabsorbed into the brain and flows through aquaducts in the back of the skull, down the spine, where it is also reabsorbed.  The brain continually produces cerebrospinal fluid, so if the aquaducts are blocked or if the fluid cannot be reabsorbed, it accumulates.  Sometimes, the brain produces too much cerebrospinal fluid at a faster rate than the brain can absorb, causing it to accumulate. In Emily’s case, we don’t know what the cause is and we might never know.  That is the case for a lot of babies with this condition.  Her diagnosis has progressed into hydrocephalus.  The terms ventriculomegaly and hydrocephalus are sometimes used interchangeably, but the way it was explained to us is that ventriculomegaly is a dilation of the ventricles with fluid, while hydrocephalus is more severe and the fluid compresses the brain structures.  Due to the extra fluid, Emily’s brain is being compressed to the sides of her skull, which can impact her brain development. Since the skull plates are not yet fused in young babies, the head size usually increases with hydrocephalus as nature’s way of relieving some of the pressure off the brain.   This is called macrocephaly.  As hard as that is to accept, it’s actually a good thing because it can help prevent some brain damage.  At 22 weeks, Emily’s head was measuring 25 weeks gestation.  At this time, we met with a neonatologist, who explained that Emily would need surgery to place a VP shunt, which is a small, plastic catheter that is inserted into her lateral ventricle, to drain the fluid down a small, flexible tube that goes into her abdomen, where the fluid can be absorbed.  This surgery will happen the same day or the next day after she is born.  The hope is that after the fluid is drained, her brain will “fluff” back out and be able to develop like it should.  We’ve been told that babies’ brains are resilient so let’s hope so!  It is hard to predict what her neurological outcome will be.  Our pediatric neurosurgeon told us that some babies with large measurements and not-so-good MRI’s do well neurologically and some babies with less severe measurements and good MRI’s don’t do as well.  Some brains can take a lot of pressure before irreversible damage occurs and some can’t.  Therefore, there is not exactly a direct correlation or prediction that can be made of how impacted her development will be.  Usually if this diagnosis comes along with other abnormalities, such as heart defects or chromosomal abnormalities, the prognosis is poor.  Since Emily’s other issues have resolved themselves and the genetic tests all came back normal, her diagnosis is considered Isolated Hydrocephalus, which is good.  However, her hydrocephalus is severe so that’s not good. 

 Overall, we really have no idea what the future holds for our little Emily Quinn.  During this pregnancy, we have been thrilled, devastated, sad, scared, in love and hopeful.  Now all we can do is hope for the best and monitor her ventricle size as she grows.  To make it easier to see the progression, here is a list of her measurements over time:

16 weeks – 10.3mm and 10.4mm

18 weeks – 16mm each

22weeks – 19.5mm each; Head circumference: 23 cm = 25 weeks

26 weeks – 33mm each; Head circumference: 30 cm = 33 weeks

30 weeks – 37 mm and 42 mm; Head circumference: 35cm = 40 weeks

34 weeks – 49 mm and 53 mm; Head circumference: 43 cm = well over 40 weeks