My Medical Journal Debut

July 28, 2011

Another doctor appointment today.  Baby girl scored another 8 out of 8 on her biophysical profile, and I got to have my favorite ultrasound tech!  I had a blood pressure of 124/84... not too bad, not what I want it to be, but low enough to allow my doctor to remain relatively unconcerned about me for another week.

There really is no change with the baby, but today Dr. P told me that she feels like the remaining growth on the back of this baby's head/neck is really looking more and more like it is an encephalocele.  I write that word now without having to look up its spelling.  I really hate that I know how to spell it, and have visited the first 50 sites that come up if you google it.  Encephalocele is not something I ever wanted to know about!  Dr P's feelings are strong enough to have us meet with a pediatric neurosurgeon in the next couple of weeks - more words I don't want to know about or type.  If this is an encephalocele we are looking at what I'll refer to as "baby brain surgery" within the first couple of weeks/months of our daughter's life.  I spent a couple of months practically begging each night as I pray for the cystic hygroma to resolve, and it did... and revealed this!  Seriously?  I want to shout foul, but as I've seen in the past several months, healing does happen, right?

I wanted to give you some facts I've discovered through multiple sources about encephaloceles.  I'm hoping if anyone googles this and is having the same questions I do this will be helpful.  It will also help you guys to understand better what appears now to be going on with our little girl.  After reading some of these things, I sometimes long for the days of thinking this was a cystic hygroma... words I never thought I'd say

Encephaloceles are a neural tube defect which is basically a sac-like protrusion from a defect in the skull. These protrusions are filled with the membranes that surround the brain cavity and sometimes, brain matter as well.

Encephaloceles affect about 375 babies yearly in the United States.  Lucky me... and I can't seem to win the freaking lottery, but this?

20% of babies who have encephaloceles are stillborn.  Better odds I guess that we were first given.

The prognosis, depends on the type and amount of brain tissue involved, the encephalocele's location, other brain malformations.

Babies with an encephalocele stand a one in five chance at survival. 21% of babies with an encephalocele survive birth. Of those that are born alive, only half will survive.

Babies that have an encephalocele may also have other related issues including: 
-- Microcephaly (small head)
-- Ataxia (uncoordinated movements)
-- A 75% rate of some sort of developmental delay
-- Hydrocephalus
-- Paralysis of the arms and legs
-- Vision problems
-- Seizures
-- Slow growth

So... this appears to be more and more our new reality.

We asked today if our doctor is still thinking Turner Syndrome, and she is not.  The slate has been wiped clean.  The information I was given at my first appointment is no longer valid.  She is not aware of any known cases of Turner or Down syndrome that presented with encephalocele.  More and more we are looking at a very rare genetic defect, or an isolated birth defect, and yet she cannot find any genetic conditions that are standing out because our baby is lacking other dominant traits of each condition.  If you have to cheer for one over the other we've been told to cheer for isolated birth defect (somewhere along the way of this year I lost all naivety).

If the encephalocele can be successful repaired, and no other conditions are present with our baby, then she could live a normal life.

There are still so many what ifs...
What if it is an encephalocele?
What if its not?
What if its something else?

There is only one thing we are certain of... that there remains so much uncertainty, and we probably won't know the answer until sometime after our daughter is born.

I have been told I may be one of the strangest cases of cystic hygroma/encephalocele they have ever seen.  When my daughter and I show up in a medical journal someday, all I want is an autographed copy hanging on my wall.  I figure it will make a for an interesting item for her to bring to show and tell someday.

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  1. Good job Baby girl! 100% is great!!! :) Thanks for the update.

  2. For she is "fearfully" and "wonderfully" made. I love you guys!

  3. (hugs) I have no words, only sending my love and thoughts to you all. Stay strong, and if I can do anything to help you, even if it is just be an ear please let me know! (hugs)

  4. With every prognosis your baby girl fights through!! She is a fighter and she's not giving up!! She's just like her Mom. You both are amazing!!

    I can't wait to hear about her 1st show and tell. It will be amazing!

    Stay strong my Friend! Praying for you all!


  5. Still sending hugs and prayers your way for your miracle daughter! I can see her taking it to show and tell in my future vision for you guys. She is a fighter - that is for sure! :)

  6. There are medical treatment available today for such conditions.

  7. My friend's daughter was born at 34.5 weeks with encephaloceles in 1995. She was born with a protrusion a few inches behind her left ear on her head, neck and some tissue on her collarbone was distended.

    She had many surgeries in the months following her birth. She had many appoints with physio therapists specializing in infant mobility, despite having no 'apparent' significant weakness in her limbs at birth, they began these as soon as her docs cleared her after most of the surgeries.

    She took her first steps at 20 months old.

    She started kindergarten on time.

    Her grades have always remained a solid high B.

    She had surgery 2 years ago to relieve pressure from scar tissue on her neck and scalp

    Her left ear, if you look closely is a little off from where it would typically be and she has a slight droop in her left eye that is not obvious unless you are looking for it.

    She got her drivers permit in June. She had her first heart break in July.

    She is lovely, optimistic and makes everyone feel loved and secure.

    There is hope. We'll be thinking of you.


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