Our wonderful and hectic story began when your youngest daughter Skylar was born. We knew that something was going on with her heart before she was born. Months of weekly fetal scans and bed rest had shown an abnormality however, doctors were not quite sure what yet. At 35 weeks gestational the doctors decided Skylar needed to be born to start receiving the care she needed. She was immediately whisked away to the NICU to be stabilized. Only 2 hours later she was loaded up to be air flighted to Egleston Children’s Hospital. Once at Egleston in the Cardiac Intensive Care Unit (CICU) she was evaluated by a special team of cardiac doctors. Those doctors diagnosed her with dilated cardiomyopathy which meant her heart was too large and too weak to pump itself. A heart defect such as this causes many other issues. Skylar needed a breathing machine to provide her with enough oxygen. A feeding tube was placed to provide nutrients along with IV nutrition. She was placed on IV medications to help pump her heart.
We were also told to have our older daughter Jolene’s heart check as well. Jolene was always on the smaller side, had eating struggles and was behind in her growing milestone. Jolene’s pediatricians had noticed that she was behind but felt that she would slowly catch up. After the suggestion of Skylar’s doctors we had an echo of Jolene’s heart. The echo showed that she too had a heart defect;
Hypertrophic Cardiomyopathy. Hypertrophic Cardiomyopathy is a defect in which the heart muscle is to thick. Like any muscle when it is working very hard it thickens however, this is not a quality not wanted in a heart. When the heart muscle is too thick it can cause stiffening, blockage or arrhythmias.
With both girls having heart defects the doctors at Children’s teamed up with genetic specialist at Emory begin searching for a reason. After several negative tests we did a full chromosome dna test, included both parents. Results came back that both the girls have a rare genetic deletion ALPK3.