The Undiagnosed Broken Heart

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The Undiagnosed Broken Heart

The Undiagnosed Broken Heart – Kristine McCormick was nursing her five-day-old baby, Cora, when she looked down and noticed something was wrong. Kristine explained, “One moment I looked down and saw her peaceful face growing sleepy from breast milk. A matter of seconds later and I looked down to a limp, pale baby with no movement. I screamed, jumped up, and realized she wasn’t breathing.” Kristine and her husband, Ben, rushed Cora to the hospital. Cora died, taking her last breath in Kristine’s arms. The hospital staff attempted to revive Cora for over two hours but were unsuccessful.

Kristine and Ben were devastated, wondering how this nightmare could happen. They left the hospital bewildered and without Cora in their arms. A few days later, Kristine received a call from the Coroner’s office who informed them that Cora’s death was caused by a problem with her heart. Weeks later, the coroner’s report revealed that Cora’s silent killer was an undiagnosed Congenital Heart Defect. Kristine had never heard about Congenital Heart Defects before her daughter’s death. Kristine and Ben are now crusaders in spreading awareness and education about the dangers of Congenital Heart Defects in babies. Their message is that a simple screening test, called pulse oximetry, could save the lives of babies like Cora.

According to the March of Dimes, approximately 35,000 babies are born with heart defects each year. It is estimated that 1 out of every 100 births are affected by some form of heart defect. Heart defects account for the leading cause of birth defect related deaths in the US. Heart defects are the number one occurring birth defect in babies and yet funding for research and education remains minimal. The majority of expecting and new mothers have no knowledge about these birth defects.

Tragically, Cora’s death could have been prevented had she been screened for a birth defect within twenty-four hours after birth. Nearly all states include mandatory health screenings for newborns. These screenings include blood testing for over 30 metabolic diseases that could affect growth and development as well as hearing screenings. Newborn health screenings are left up to each individual state to decide which tests to include. Many states feel that heart screenings for disorders is too costly or introduces the possibility of false positive results, which would confirm a disease that was not present. Some associated with the medical field feel that false positives add undue stress and worry to parents of newborn children.

Ben and Kristine McCormick find the idea of not offering screening due to the possibility of false positives frustrating. After receiving Cora’s coroner’s report, Kristine posted a blog article saying “We’ve got to get more funding. We’ve got to do more research to get CHDs (congenital heart defects) diagnosed earlier. We’ve got to make pulse oximetry tests standard at birth. As a few medical professionals have said, it should be a ‘no brainer.’ If you thought I was a strong activist and advocate before, watch out.”

Dr. Darshak Sanghavi, an expert in the field of pediatric cardiology, asked for a screening test when his children were born. The simple, non-invasive test requires attaching a simple red light to the foot, which is painlessly beamed through the foot, measuring how much oxygen is present in the blood. Dr Sanghavi has witnessed cases like Cora’s before, where seemingly healthy newborns are taken home, only to be rushed to the ER in serious condition days later. If these heart defects are detected in utero or within hours after birth, a high majority of these children can be treated. With proper medical care and surgery, these infants can often lead happy and active lives, but detection and treatment are the key.

Doctor Anne de-Wahl Granelli and associates in Sweden have performed wide scale clinical trials on the cost and benefits of pulse oximetry testing in newborns. In The British Medical Journal (2009) they concluded that pulse oximetry testing within the first twenty-four hours after birth picked up three-quarters of critical heart defects that had been previously missed by ultrasound and physical examinations. Additionally, the cost-benefit ratio of pulse oximetry compares favorably to the current newborn practices of screening for PKU and hypothyroidism. These Swedish doctors found that pulse oximetry screening entirely eliminated death in infants who had previously undiagnosed critical cardiac defects.

Dr Sanghavi points out that, as with all screening, not every heart defect can be picked up by pulse oximetry testing and that some false positive results will be encountered. He also points out that false positives in these test cases are fairly low.

Cora’s parents, Ben and Kristine, feel that if newborn screening could save even one baby from sudden death, then pulse oximetry screening should be mandatory. Kristine is dedicated to making Cora’s death the means of saving other baby’s lives. In a letter to her daughter, Kristine writes “I share this letter with the world. I debated about that. What follows isn’t going to be easy for anyone to read, especially mommies and daddies. But, I knew we had to share this. This is part of your story. I want your story to sweep across the world. That’s how we’ll save lives, spread compassion, and give people a new perspective on the world.”

As many organizations and individuals work to introduce legislation and make pulse oximetry testing part of newborn health screenings, they also give advice to new and expecting parents. Dr. Sanghavi and other pulse oximetry proponents urge parents to discuss pulse oximetry testing with their doctors, and their newborn baby’s doctor, before birth. Additionally, parents should ask for this screening test at the hospital before going home. Many hospitals have recently begun routinely screening for heart defects but, not all do. Parents should find out if their hospital does and ask for the screening if it does not. Dr. Sanghavi explains that the test should not cost anything additional as hospitals already have the necessary equipment to perform the test. No special physicians are needed; a nurse will be able to do it.

Hopefully, more states and hospitals will soon discover the benefits of pulse oximetry screening for Congenital Heart Defects. This test could help diagnose the number one birth defect, helping to eliminate needless deaths and complications associated with undiagnosed heart defects

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