A Litany of Anomalies; A Marathon begins

Tony went to UCLA, and waited.  They did tests, they did x-rays. 

He was then sent into a conference room.  There were at at least half a dozen doctors waiting to talk to him.

They presented him with the x-rays.  These were the results; our daughter had the following:

Esophageal atresia/Tracheoesphageal fistula

A disorder of the digestive system in which the esophagus does not develop properly.  The upper part of the esophagus did not connect to the lower esophagus and stomach.  The top end of the lower esophagus connects improperly to the windpipe.  This connection is called a traceoesphageal fistula. 

Mishayla was clearly very small.  They could probably repair the fistula, but connecting the esophagus would be tricky.  The surgeon was not sure there was even enough tissue to connect one end of the esophagus to the other.  They may have to wait till she was older, meaning she would be fed through a feeding tube for quite some time, if not the rest of her life.

Only about 1% of children with Down Syndrome have this.

Duodenal atresia

This is a condition in which the small bowel did not develop properly.   It is not open, and nutrients (food) cannot go through the body.  In other words, there is a blockage.  It is thought possibly this occurs because in fetal development, the bowel starts out solid, and as the fetus grows, it becomes tube-like for passage of nutrients and waste.  Mishayla never got her "tube."

This would have to be removed or she would not survive.  Bowel anomalies such as this in children with Down Syndrome run about 12%.
 
Ventrical Septal Defect 


Ventrical Septal Defect (VSD) is a heart defect where there are holes in the ventricles that separate the heart.  This is probably the most common congenital defect in any child, but with Down Syndrome, it's as high as 50%. 


The cardiologist was not sure she would need this repaired  right away.  It didn't seem to be affecting her in any adverse way at the moment.  She had so many other issues that were more pressing, this would could wait.

Atrial Septal Defect

In an atrial septal defect, the two upper chambers of the heart are not connected.  In fetal circulation, there is normally an opening between the  two atria (the heart's two upper chambers) to allow blood to bypass the lungs.

If the ASD does not close on its own, blood continues to flow from the left to the right atria.  This will allow blood to abnormally build up in the lungs.  If too much blood builds up, there will be too much pressure exerted on the lungs.  If this goes on too long, shortness of breath can occur, and death.

This is a relatively rare condition. Again, it didn't seem to be affecting her quite so much at the moment, but it would certainly be something that would need to be taken care of in the future.

Of course, the first thing was getting the gastrostomy (the g-tube) in place, and the bowel blockage removed.  The surgeon would do that surgery in the morning. 

"Your daughter doesn't have anything that cannot be repaired," the surgeons told Tony.  "But it's not a sprint.  It's gonna take time.  It's certainly a marathon."

Tony called me.  I listened to this from my hospital bed.

All of this was beyond comprehension.  How could one little 4 pound, 12 ounce person have so many things wrong with them?

This is hard for me to admit now, but at that very moment in time, the thought went through my mind. This poor baby is going to suffer beyond belief.  Maybe it would be better if.......

I heard Tony's voice on the other end of the phone. "Cyn, I hate to say this, but sometimes I think maybe it would be better if......

It was like he read my mind.  Neither one of us wanted to admit what we were thinking.

But I couldn't give up that easily, couldn't give in.  I had carried this child through four months of pain and struggle.  And she had survived.  She and I had fought together to bring her into this world, into life. I couldn't do it.  I couldn't say it would be better if.

"I know, Tony," I told my husband.  "I know what you are saying.  But didn't the doctor say they could fix everything?"

"Yes," he said. "That is what they are saying."

"Well, then, let's give them the chance.  Let's do everything.  Let them do everything they can."

Let's start the marathon, and let's win it.