Today, I am devoting my blog to Congenital Heart Disease Awareness Week (February 7-14). I am not going to bore you with statistics. Instead, I am going to tell you a story in the form of a timeline. I am going to tell you a specific chain of events that could have gone in an entirely different direction. This is a true story.
February 21, 2008: My son, Henry, is born, almost six weeks premature. He is sent to York Hospital NICU for underdeveloped lungs.
February 29, 2008: Henry is discharged from the NICU. The doctor on duty tells us that he has slight murmur, which is very common in preemies. He tells us to follow up with our pediatrician.
March 3, 2008: Henry's one week checkup at Pediatric Care of York. Dr. Moore hears Henry's murmur and tells us that it doesn't sound bad, and is probably an innocent murmur. However, PCY's policy is to never ignore a murmur, so he refers us to a Cardiologist at Hershey Medical Center and tells us not to worry.
April 15, 2008: Hershey Medical Center performs an Echocardiogram on Henry, and determines that he has Pulmonic Valvular Stenosis (PVS), a congenital heart defect. Devastated, I go home to Google "PVS," and read the words "Noonan Syndrome" for the first time. I decide to ask PCY about it at the boys' next appointment in August.
October 25, 2008: Henry and his brother Jack test positive for a mutation in the PTPN11 gene, confirming a Noonan Syndrome (NS) diagnosis. PCY refers us to Johns Hopkins Genetics Clinic.
December 8, 2008: Johns Hopkins Genetics examines Henry and Jack and gives us a list of specialists that they will need, as part of their treatment of NS. One of the specialties is Hematology, as NS patients often have blood clotting disorders.
January 14, 2009: Dr. Takemoto, Pediatric Hematologist at Johns Hopkins, discovers through blood work that Henry and Jack have Factor VIII deficiencies and Von Willebrand's Disease. Bottom Line: Their blood has difficulty clotting.
September 24, 2009: Nineteen month old Henry wakes up from a nap with a diaper that has over-flowed with blood, leaking down his legs, and soaked into his pants. (You may have heard this story.) In a panic, I rush him to the ER of York Hospital. Unable to find a source of the bleed and unable to stop it, the doctors at York call Dr. Takemoto. Dr. T explains the severity of Henry's bleeding issues, and it is decided that Henry will be sent to Hopkins via ambulance. By the time my husband and I arrive at Johns Hopkins, Henry's heart rate is at 214BPM. We are told that because of the blood issues, if Henry doesn't receive clotting meds and a blood transfusion immediately, he will be in heart failure within an hour. Four days after our arrival at Hopkins, following an admission into the PICU, several blood transfusions, and multiple tests, the source of the GI bleed is found. Henry had been born with a Meckel's Diverticulum (MD), a small, rare growth outside of the stomach in the intestines. It ruptured, causing an intestinal bleed. A MD rupture is usually not life threatening... as long as the blood clots. The amazing surgeons at Johns Hopkins successfully remove the MD, and save Henry's life. Henry comes home a week after surgery, where he has been spoiled rotten ever since.
When Henry was first admitted to Hopkins, I received word that an acquaintance of mine, who was also a patient there, had just received life changing news. Like my sons, she had been born with Congenital Heart Disease, only hers was very severe. She had endured numerous surgeries, and had been on a waiting list, for a new heart, for years. She received her new heart, from a donor, the same day that Henry's MD was removed. It was nice to see the familiar faces of her family in the surgical waiting room, even though it was under such dire circumstances. As I think back to all of us waiting, for our loved ones to pull through their surgeries, I thought of the one thing that had brought us all there. We were united by the heart.
Henry's scar is on his stomach. The disorder of his blood is what almost took his life. But it was his heart, and that beautiful murmur of his, that caused his timeline to continue.
The murmur led to the Cardiologist.
The Cardiologist led me to the Internet.
The Internet led to Noonan Syndrome.
Noonan Syndrome led to Hematology.
Hematology saved Henry's life.
Henry was one of 2% of the population born with a Meckel's Diverticulum. It was going to rupture eventually. He was born with blood that doesn't clot. If we had not known that, Henry would died twelve hours after the rupture, before they even would have had time to run the proper tests. The doctors at Johns Hopkins saved my son, but I also give credit to Pediatric Care of York. If they had treated Henry's murmur as innocent, and waited until symptoms were presented, he would not be here with me, today.
Cheesy love songs, jewelry commercials, and Hallmark cards often tell you to "Listen to Your Heart." You have no idea how good that advice is. In honor of Congenital Heart Disease Awareness Week, listen to your heart. Listen to your child's heart. If a doctor tells you he hears a murmur, insist on an Echocardiogram. It may not be innocent, and it may lead to a discovery of a more serious underlying condition. Football players go into Cardiac Arrest on the field at 15 years old, because of an undetected CHD. Babies go into Congestive Heart Failure, before they've even seen a Cardiologist. I dream of a time when all infants receive Echos before leaving the hospital, after birth. It is too serious of a condition to ignore. Promote Congenital Heart Disease Awareness. Listen to your heart. My son's saved his life.
