Saturday, August 13, 2011


I have been getting questions, so here is brief update on what we know about Sarah's condition.

Sarah was diagnosed, via prenatal genetic tests, with a genetic syndrome called Apert's.

Her skull is fusing, though there is some disagreement from my amazing doctors about where and how much.  She will be facing surgery in the first year of her life to allow room for the brain to grow.  It also means that she will look different.  The shape of her skull being the source of the disagreements, we do not know exactly how severe the abnormality is.  We know that her forehead is protruded- even I can see that in the imaging.  The good news is that the brain currently has room to grow.  She is not likely to need surgery until she is at least six months old.  That may sound awful, but it is a lot better than immediately after birth.  Also, since it has room to grow, the skull is not currently constraining her brain growth, so it is not being damaged now when there is little we could do.  A pediatric neurosurgeon will do the initial surgery, which will make room for the brain.  A plastic surgeon will do the reconstruction.

Her fingers, and probably toes, are fused together.  We do not know whether it is skin or bone that is fused.  Also, there is some question as to whether the thumb is fused with the fingers or whether it is separate.  This is another surgery that she will face.

Her lungs, once a source of great concern, look good now.  In the first MRI, they appeared larger than normal, indicating fluid in the lungs.  By the second MRI, that appeared to have cleared up.  The doctors are keeping a close eye.  Apert's often comes with respiratory issues, which is another reason to keep close watch.

Today we had a third echo.  The cardiologist said that the heart has not changed, which is excellent news.  He said they is some, but not much, fluid around the heart, and the heart is slightly enlarged.  That too, sounds awful but relative to possibilities it is good news.  He will examine the heart within hours of birth to make sure all is well.  The hope and expectation is that the abnormalities will take care of themselves at birth.  There is a possibility that the heart has other problems, that we cannot see until birth.

There are some other concerns.  They are, or seem anyway, more minor.  The gall bladder is not apparent in the imaging.  That, in and of itself, is not a concern.  But she will have an abdominal ultrasound soon after birth to make sure that all the essential organs are present and functioning properly.

Although the brain is not pinched or constrained, that does not mean we are home-free as far as concerns about neurological issues, which are a potential symptom of Apert's.  There could be none, or there could be severe problems.  We cannot know now, we can only pray.

Sarah is also breech.  Her head has been tightly pushed into my rib-cage.  That, along with concerns about her skull (which being fused may not be suitable for natural birth) means that I will give birth via C-section.  That is a bit of a disappointment, but I am not willing to put my at-risk daughter at-more-risk according to my whims.  Having never considered that before, I was never in a position to think about the upside.  This is going to sound silly and obvious but it is new and exciting to me.  I got to schedule the delivery, which means I know when she will be born already- unless I go into labor early!  Her scheduled birthday is Wednesday September 14!

That is, in a nutshell, everything we currently know.  At least, it is everything I can think of without going through notes.

I finally met the doctor who will be delivering her.  I am thrilled to announce that he is every bit as good as the recommending doctor's at Children's hospital said he would be.  He is warm, and has a great sense of humor. He listens to my concerns, and is very responsive.  I only with I had been working with him all along.

We have been praying for our baby's health.  Please continue to keep us in your prayers.


  1. Hi Beth, thank you for the update and I (and probably many others) are watching from afar.

    In case you haven't seen it, I wanted to point you to an article about minimally invasive surgery for craniostenosis. I imagine that Children's is on top of this, but just in case:

    Prayers for a safe delivery and continued good news...