SARA'S STORY
The cause of HCM is largely unknown but most cases appear to be genetic in origin, which is how Sara inheritted the disease. Sara's dad, Joe, was diagnosed with Hypertrophic Cardiomyopathy (HCM) in 1990 at the age of nineteen.
Sara was just a year old when she was diagnosed. It is considered unusual when an infant or a child is diagnosed with symptoms at such a young age. Typically, symptoms are not apparent until the late teens or adult years. HCM commonly develops in association with growth and is detected when a child progresses through puberty.
A beta-blocker was prescribed for Sara at the time of diagnosis. It is used to relieve heart failure symptoms, decrease the workload on the heart, decrease the oxygen requirements of the heart and regulate abnormal heartbeats. Sara was also given some restrictions to her physical activity as well. She must avoid activities where there is a chance of overexertion or where the heart may be put under excessive strain.
At the age of eight, Sara's cardiologist determined the need for a defribrillator in addition to her beta-blocker. In Sara's case, the defibrillator was implanted to regulate dangerous arrhythmias. The procedure involved inserting a small mechanical device under the skin of her chest with wire leads threaded through the veins into her heart. Thankfully, the ICD has not ever detected any arrhythmias!
In April of this year, Sara became very symptomatic. There were several instances when she was unable to walk the halls of school due to shortness of breath. To be safe, we decided to check in with her cardiologist. Dr. Bromberg ordered a chest x-ray and echocardiogram which determined that the disease had progressed. After comparing Sara's chart from her August 2014 visit, Dr. Bromberg stated that surgery, a septal myectomy, was imminent. He also increased the degree of her illness from moderate to severe. Sara was put on homebound status with her school, meaning she no longer needed to attend but would get assistance using a tutor. As the surgery date got closer, Sara started experiencing some dizziness, had extremely low energy and a hard time breathing.
On May 11, we met with Sara's surgeon, Dr. Eghtesady. He explained to us that her obstruction was extremely thick. With every heart beat, her mitral valve was hitting the septum. When this happens, very little blood is able to flow through the heart.
The following day Sara underwent a septal myectomy at St. Louis Children's Hospital. The surgery lasted about 5 hours. When surgery was complete, Dr. Eghtesday gave us his findings. He took her septum from 4 centimeters down to 1.5 centimeters. He said it was definitely time for Sara to undergo this procedure. A normal person's septum measures 1 centimeter.
Sara's recovery was phenomenal. Her doctors and nurses were amazed at how well she did during the hospital stay. She was discharged at only three days after surgery. After two weeks, she was up dancing around in the living room as if she had never undergone a major open heart surgery.
Sara had no complications other than pericardial effusion (fluid around the heart). It is often associated with pericarditis, which is an inflammation of the pericardium, a double-layered membrane sac that surrounds the heart and protects it. Fluid buildup is fairly common after heart surgery. It was not painful and was treated with an over-the-counter anti-inflammatory medication.
On June 18, Dr. Bromberg told Sara he would not need to see her again until March 2016! She was very excited to hear this news!
Before any of us even fathomed that Sara would need surgery, she came to us with the hopes of raising funds for the Children's Cardiomyopathy Foundation. I asked what she had in mind and her reply was, "whatever will get people to help in a big way".
So here we are, helping in a big way so that CCF will be able to continue their research for cures while improving diagnosis, treatment and quality of life for children like Sara. Though Sara did very well during and after surgery, she is a small exception. We hear from several parents telling us stories about their children who suffer terribly before, during and after their procedure or in some cases procedures. There are many children awaiting transplant. The hope is that one day every affected child can be cured to live a full and active life.