Dental Floss Part 4 - The Diagnosis

Frontal Encephalocele

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This is part 4 of my blog series on the road to having our child
Introduction: Right Here
Part 1 can be found: Right Here
Part 2 can be found: Right Here
Part 3 can be found: Right Here
Part 4: *YOU ARE HERE*
Part 5 can be found: Right Here
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So following the doctors advice I got in the car and rushed to the doctors office as fast as I safely could.  To be perfectly honest I don't recall parts of the trip because his words were just banging echo's through my mind "brain matter leaking from her head."  "It certainly is rather strange."  I had no time for Google research and in hindsight I am quite glad I did not have that time because there are some key distinctions I had yet to learn to frame our case versus a lot of the cases out there.  I was also still in shock that I had decided not to go with Margaret to the appointment, so for the 45 minutes it would take me to get over there she was stuck sitting, by herself, and I hated that.  Once I made it there I got into the waiting room, they immediately knew who I was and took me back to the room Margaret was in and finally I was able to hold her and start this journey of understanding what it was exactly that we were dealing with.

Explanation

An Encephalocele, by definition, is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover the brain through an opening in the skull.  The opening in the skull tends to be the result of the skulls inability to fully fuse together while it's being developed.  There are two major types of Encephalocele's, occipital (which is in the rear of the head) and frontal (which typical appears between the eyes and above the nose).  It's not that simple though as the brain matter can protrude in a variety of ways and amounts.  So be forewarned if you decide to Google search the term there are a WIDE range of cases you'll see.

In our case, our baby girls encephalocele (or cele for short) is in the front of her head and above the bridge of her nose and between her eyes.  Here is the clearest picture we have of it so far.  You can clearly see her mouth, nose, eyes, and the large protrusion above her nose is the cele.

So, what does this mean??

Once the doctor began discussing the situation with us so also began the single worst day of our lives, by a long shot.  Basically all the doctor could see at this point was that there was definitely brain tissue in the cele (which would be non-functioning matter) and therefore there would also be extra space inside the skull behind the opening and the rest of the brain would develop in a small bit of disorganization because there was more space available then the brain needed.  He could also tell that she was missing her corpus callosum which is the main communication "bridge" between the two halves of the brain.  In addition to that both of her cranial ventricles were measuring on the high side of average which put her at risk for having Hydrocephalus (water on the brain).

So little is known about Encephalocele's because they're very rare and as such a cause is completely unknown.  The only thing research has been able to suggest is that these are NOT a result of anything the mother does or does not do during the pregnancy.  What shocked us even more was that this condition is not linked in any way to any of Margarets other medical conditions mentioned in my previous post.  The odds of a baby being born with an encephalocele are 1 in 10,000.  They're even more uncommon in the United States, and frontal cases are even more rare still.  So your local town hall doesn't exactly have Encephalocele support group meetings every Saturday morning where you can try to understand what to expect. 

So there we sat, processing all of this information and then the doctor went and kicked everything into the stratosphere of unfathomable.  He explains all of this and then mentions termination.  He mentions it with such a tone that portrayed he was highly in favor of it because we just don't know how the baby will turn out.  The baby could be born as a complete vegetable, or she could be relatively functional with just a few slow tendencies on the learning curve.  It was all completely unknown and wouldn't be known until she was born.  Then he referenced how far along Margaret was, she was 22 weeks at the time and there aren't any clinics in the Tampa area that will perform terminations past 23 weeks and on the east coast of Florida they'll go up to 24 and beyond that Atlanta would be the last option he knew of.  

Not really knowing what to say Margaret asked what the termination process looked like.  The doctor began explaining that basically they would have her go into a clinic and they would go in and "Stop the heart".... I sort of zoned out when he said that phrase and I don't know the rest of what he said.  My favorite part of this whole pregnancy had been watching my baby girls heart thump away on the sonogram, just cranking away and doing it's thing so clear and so easy to see and so precious.  So now, the image of me making a conscious decision that would result in that little beater seizing up simply crushed me.  Right there.  Right then.  In that moment.  The weight of the world and then some felt like it was placed right on my shoulders as Margaret looked to me for my thoughts.  So on top of having to make what felt like an impossible choice the doctor was pushing for us to decide that day, because it was a holiday weekend and processing the request would take some time to coordinate.  Everything becomes more clear in hindsight when you have time to think things through, but until you're in that moment (and I wouldn't wish that moment on even my worst enemy) it's almost impossible to describe the helplessness you feel.  I wanted to disappear.  I wanted to look to someone else and just have them make the right decision.  It was the realization that all of those options were non-existent.  This was a decision that could only be made by two people, and two people only.  Myself and Margaret.

So the doctor and weeping nurse left the room and there we sat.  No words to speak because the elephant in the room was so monstrous I don't think we could even see each other.  Slowly words came and we talked things through.  The end result was we simply could not give him an answer right then and there and we needed to sit on the situation for a night and really process what was happening because it was all so much and so fast.  So as we left the doctor wrote down the phone number for the clinic on a piece of paper and urged Margaret to take it.  The hours and days that followed were some of our darkest and most stressful.  Waking up in the middle of the night to see your wife sitting in bed just crying was another one of those moments that left my stomach in the hardest of knots because there was nothing I could do to fix it.  All I could do was hold on to her.  While that may have been enough for her it simply wasn't even close to what I wanted to be able to provide.

Deciding

After we got home we continued to talk through everything and started leaning more and more towards seeing termination as simply not an option.  If anyone or anything was going to decide that this baby was not meant to be it simply would COULD not be us.  We tried too hard for too long to get this kid and to pull the plug in a moment of stress of the unknown was simply not possible.  So after further days of discussing and talking through everything we were fully committed to letting this pregnancy play out and giving our baby girl the chance to fight for herself.  At one point I told Margaret that this almost wasn't even a surprise to me.  I recalled that when we were going through our infertility years I was in one of those contemplative moments where you just sort of talk to yourself and reflect.  I was reflecting on how badly I wanted to be a dad and how ready I felt I was and how I was ready to accept whatever path lead to us having a kid.  In that moment the thought flashed through my mind "Well would you accept a child that was handicapped in some way?" and without hesitation and with the utmost commitment I thought "Of course I would.".

With the most monumental decision behind us we were able to begin trying to recover any sense of excitement possible for this pregnancy.  I told Margaret I was positive we were going to be great parents.  I knew this because we've already made our first major decision for our child, and she was still alive. :-)  I cannot underscore enough the importance of humor in life.

So here we are

So here we are.  Trying to prepare for our extremely special bundle of joy and all the unknowns she's bringing with her.  It's still been an incredibly bumpy road but we're pushing on.  We took a birthing class and felt rather far behind when the class was asked who had their childs pediatrician selected and we realized we hadn't even thought about that yet.  We're too busy trying to find our childs Neurosurgeon.  We've been bounced around from doctor to doctor and had to make last minute plan changes to deliver at a whole new hospital with a whole new OB because the original pair would not have access to a pediatric neurosurgeon if our kid was born with Hydrocephalus and needed shunt surgery right away.

The general consensus is that the encephalocele removal and repair surgery will not take place until up to 6 months after birth.  This is to give the skull more time to mature as it will take to the surgery better if it's had time to establish itself.

We are winding down in days left but slowly things are starting to line up.  We will have more visits with the high risk OB and I am sure he will have more bad news for us.  So far he's batting 1.000.  The first visit was the initial diagnosis and the next we discovered that she was officially considered as having hydrocephalus.  So we don't exactly look forward to those visits.

Recently we had to get all of the records from the high risk OB for one of the neurosurgeons we were going to meet with and discuss our situation with.  It was a pretty sobering experience to look through the doctors notes on our case and see how they were written.  I don't hold it against him because his notes need to be medical in nature and nothing more.  However, as I flipped through the pages of notes one line jump out at me and just made me smile one of the biggest smiles I've been able to muster up through this whole journey:

Yes.  Yes she has.