Chase is 3 years old and one of the happiest kids I know. He is the third youngest out of four kids and couldn’t love his siblings more. He is happy just to sit by his big brothers and watch them play video games 🙂
Chase’s story started November 1, 2014 when he was born via emergency c-section. Nothing about the delivery was ideal. We started out going in to get induced and having Chase manually flipped around in my belly. Once his heart rate fell the doctors decided it would be best to get him out as quickly as possible. When Chase was born he was immediately intubated due to meconium aspiration. Little did we know this was the best thing that could have happened for him.
Chase was brought straight to the NICU. Everyone assured us that it was just for observation and he would be joining us shortly. After hours turned into days of him not coming to our room I knew something was wrong. When Chase was 3 days old he had an X-ray of his lungs to check on the meconium. Luckily his heart was also in this X-ray because that is how they found his heart defect. Chase had 3 holes in his heart along with a valve problem. If it weren’t for him aspirating on meconium we would never have figured this out so soon.
Once the heart defect was discovered the whirlwind started. They started looking into what could have caused this and they decided it was probably genetic. That’s when the testing started, the specialists started coming around, and problem after problem was being found.
Chase had a g-tube placed and a nissen fundoplication when he was 5 weeks old. It was decided that eating orally just wasn’t going to happen for Chase at that time. Exactly 2 weeks later, at 7 weeks old, Chase under went open heart surgery to repair his heart.
At 10 weeks old Chase got to leave the hospital for the first time. We learned what our new normal was with a medically complex child but we still didn’t have an answer to why this all was happening to him. When Chase was one year old we finally got the results form the whole exome sequencing and that is when we got our answer, KAT6A.
Since being diagnosed with KAT6A, we have learned a lot and met so many great people. The KAT6A support group has been a life saver. When your child’s doctor tells you they have never seen a child with your child’s diagnosis and is unable to answer all of the questions you have from this life changing test result you feel completely lost. The other parents of kids with KAT6A have been there to answer questions, give words of encouragement, and just be there when you need it.
This isn’t the life I asked for but it’s the one that was meant for me.
Jessica, Chase’s Mom