What Was Wrong?

I'm asked countless times, "What was wrong with Tyler?"  In a nutshell, he had a heart defect.  The elongated version...  He had HLHS or Hypoplastic Left Heart Syndrome.

HLHS is a congenital heart defect that causes the left side of the heart to not develop enough to do what it needs to be done once baby is born.  For many children with HLHS, there are only two chambers in the heart (vs. the four that should be present).  With only two chambers, it's much easier to detect during a routine ultrasound that something is wrong or different.  That kind of detection would call for more extensive testing to determine the exact cause of the problem.  Tyler's HLHS was a bit more complex.  He had all four chambers.  His left sided two were just substantially smaller than the right side.  HLHS, as with most congenital heart defects, occurs within the first 8 weeks of pregnancy.

What can be done?
If detected soon enough, there is a series of three open heart surgeries that can be performed.  These three surgeries are routinely performed before the age of five.  There is no guarantee that the surgeries will fix the problem.  Many children go on to need pacemakers or heart transplants. 

If we had been aware of the problem, we would have delivered at large hospital with a doctor/surgeon who could have performed the first of the surgeries.  We can't say for certain that things would have been turned out any differently, but we would have taken every step necessary to provide the chance for success.

Surgery for hypoplastic left heart syndrome usually is done in three separate stages:

1. Norwood Procedure
   This surgery usually is done within the first 2 weeks of a baby’s life. Surgeons create a “new” aorta and connect it to the right ventricle. They also place a tube from either the aorta or the right ventricle to the vessels supplying the lungs (pulmonary arteries). Thus, the right ventricle can pump blood to both the lungs and the rest of the body. This can be a very challenging surgery. After this procedure, an infant’s skin still might look bluish because oxygen-rich and oxygen-poor blood still mix in the heart.
2. Bi-directional Glenn Shunt Procedure
   This usually is performed when an infant is 4 to 6 months of age. This procedure creates a direct connection between the pulmonary artery and the vessel (the superior vena cava) returning oxygen-poor blood from the upper part of the body to the heart. This reduces the work the right ventricle has to do by allowing blood returning from the body to flow directly to the lungs.
3. Fontan Procedure
   This procedure usually is done sometime during the period when an infant is 18 months to 3 years of age. Doctors connect the pulmonary artery and the vessel (the inferior vena cava) returning oxygen-poor blood from the lower part of the body to the heart, allowing the rest of the blood coming back from the body to go to the lungs. Once this procedure is complete, oxygen-rich and oxygen-poor blood no longer mix in the heart and an infant’s skin will no longer look bluish.

There is a growing movement to pulse ox each baby after birth.  This can help find problems related to the heart and lungs.  Tyler had a pulse ox.  The nursing staff was checking his numbers regularly.

How rare?
HLHS is a fairly rare congenital heart defect.  According to statistics, one out of 4,344 babies are born with HLHS in the United States and Canada.  HLHS occurs in approximately .016%-.036% of live births, but accounts for 23% of neonatal deaths due to a congenital heart defect.

How did we find out?

We were encouraged to have an autopsy so we would have closure as to what really happened.  The pathologist at the hospital agreed to do a limited autopsy of his heart and lungs to determine the true cause.  It was during this that it was immediately determined that it was in fact HLHS. 

Next Steps

We have spoken with our OB numerous times as well as the various pediatricians who treated Tyler to determine our possibility of recurrence.  We have a 5% chance of having another child with a congenital heart defect.  A very slim percentage of chance of another child having HLHS, what is described as one of the most deadly of heart defects.

We also know that when we do get pregnant, we will be of the highest of risk.  We will see a maternal-fetal medicine doctor, have multiple tests and deliver near a Level-3 NICU.  We feel our chances of lightening striking twice is small, but we want to be prepared for whatever may come our way.

Knowing what was wrong helped in so many ways.  We were able to take the blame off of us and also allowed us the opportunity to dream and wish for the future.  And we are hopeful!  We are excited to see to see what is in store for us in the coming months. 

--Kathy