Chase's Story

Chase was born November 1, 2014.  We were expecting to have an uneventful delivery and a healthy baby boy but it was quite the opposite.  The doctor were concerned about meconium aspiration and his low heart rate so they had the NICU team present.  When he was born, he did in fact aspirate and was not breathing.  He was brought straight to the NICU and we were told he would need to be there for a few hours or maybe overnight.  When Chase was 2 days old he had a chest x-ray to see how his lungs were doing and they ended up finding 3 holes in his heart.  He had a VSD, ASD, and PDA.  The doctors then went on to do the standard chromosomal testing that comes with a congenital heart defect, but Chase tested negative for those tests.   As days led to weeks the doctors decided it would be in Chase's best interest to get a feeding tube placed in his stomach.  When Chase was 5 weeks old he had his first major surgery to get his g-tube and nissen. 
We were hopeful that we would finally be able to take Chase home after he recovered from the surgery.  Instead, they decided Chase's heart was not healthy enough to be at home so Chase had open heart surgery at 7 weeks old.  His surgery was very successful, he still had a small VSD and a restricted valve, but other wise his heart was functioning great.
We finally got to bring Chase home from the hospital when he was 10 weeks old.
Chase had many genetic tests done over the course of the next few months but they always came back negative.  His geneticist finally decided to do a test called whole exome sequencing.  It looks at every gene in the body.  After 7 long months of waiting for the results we finally got our answer.
On November 4, 2015 Chase was diagnosed with KAT6A gene muation.  This is a VERY rare syndrome that was discovered 8 months earlier.
Chase has been doing great since his diagnosis.  He is keeping up with his therapies and seeing his specialists on a regular basis.