Ewan Eliezer Petermann

Beautiful Baby Ewan died, in his mother's arms last night.

Fly high sweet angel.

http://www.team-ewan.com

When bad news hits twice

Around this time last week, we discovered that our 2-year-old daughter had an undiagnosed PDA (Patent Ductus Arteriosus). Not a particularly alarming congenital heart defect, but after losing our son in June to TOF (Tetralogy of Fallot), I was beside myself with worry and concern for Sadie.

Sawyer in the NICU

When we revisited Comer Children's Hospital to meet with Sawyer's neonatologist after he passed away, one thing she said to me had stuck out among all the medical terms and tears. She suggested that it wouldn't be a bad idea to get Sadie's heart checked out, as congenital heart defects tend to group themselves in families.

Shortly after Sadie's birth, she began to have her share of troubles too. In the NICU for a few weeks and on a ventilator - she fought very hard and made huge strides every day. But,one thing I never thought twice about was her heart. We were told she had a murmur and that most babies outgrow them and that they are most often "innocent."

Sadie in the NICU

When the cardiologist began listening to her heart last week, I was taken by surprise when she mentioned the murmur again. Her pediatrician hadn't said one word about it at any visit we've had in over two years.

As the appointment continued, Sadie had an EKG and finally, an echocardiogram.

Sadie was a trooper and was sitting in her pull-up on the exam table, coloring while the cardiologist informed me that she indeed had a PDA and narrowing of her pulmonary artery (Pulmonary Stenosis). Thankfully, her PDA doesn't need to be repaired surgically at this juncture in her life. She will continue to be monitored each year for changes and eventually it will be repaired.

I never would have thought twice about Sadie's heart if it wasn't for the suggestion from Sawyer's doctor.

According to the American Heart Association, "the risk of having a child with congenital heart disease is higher if a parent or a sibling has a congenital heart defect."

Most parents of heart babies struggle to come to terms with the often scary diagnosis of their infant or small child. And often, other siblings can be overlooked in the craziness that is the life of a CHD family. As mothers and fathers, we have instinct for a reason and I've talked with so many parents who question whether or not their other children should be seen by a cardiologist. No one wants to hear bad news twice, but we also want to do what is the best for our little ones.

In sharing our story, I hope this helps one family that may be struggling to make that difficult choice an easy one.

Diagnosis hitting hard

I found an article regarding Sawyer's congenital heart defect - Tetralogy of Fallot with Pulmonary Atresia and VSD.

Here is a link - http://emedicine.medscape.com/article/899368-overview

I guess I'm mostly posting this for other CHD moms out there to see how severe Sawyer's heart defect was and that his chances of survival were very grim.

Some things that stood out to me, made me cry - brought so many more questions to a head that's already swirling with a million of them.

Pulmonary atresia (PA) with VSD is considered the extreme end of the anatomic spectrum of tetralogy of Fallot. Tetralogy of Fallot with pulmonary atresia is worthy of separate consideration. Because of the wide variability of pulmonary blood supply, diagnosis and surgical management of tetralogy of Fallot with pulmonary atresia is more difficult than that of classic tetralogy of Fallot.

The Baltimore Washington Infant study reported an incidence of 0.07 cases per 1000 live births. This condition accounts for 1.5% of all forms of congenital heart disease and 20% of all forms of tetralogy of Fallot.

Patients with tetralogy of Fallot and nonconfluent pulmonary arteries are subject to increased morbidity and mortality related to the frequent need for multiple cardiac surgeries.

Many patients with tetralogy of Fallot with pulmonary atresia have associated syndromes and extracardiac malformations.

Sawyer had NONE of these - NONE!! And I had none of the maternal associations either

◦Conotruncal cardiac malformations associated with a chromosome arm 22q11 deletion have been incorporated under an acronym of CATCH22 (cardiac defect, abnormal face, thymic hypoplasia, cleft palate, hypocalcemia, microdeletion of band 22q11). Patients with tetralogy of Fallot with pulmonary atresia have a higher incidence of this syndrome than patients with classic tetralogy of Fallot. The prevalence of deletion 22q11 is 16% in tetralogy of Fallot with pulmonary atresia with confluent pulmonary arteries and 41% in patients with tetralogy of Fallot with pulmonary atresia and multiple aortopulmonary collateral arteries.6 Surgical mortality has been reported to be is greater among patients with tetralogy of Fallot with pulmonary atresia with a 22q11 deletion compared with patients with normal chromosomes, perhaps due to depressed immunologic status or other factors.7 ◦Other syndromic associations include the vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and renal and radial anomalies (VATER) syndrome; the coloboma, heart disease, atresia choanae, retarded growth and retarded development and/or CNS anomalies, genital hypoplasia, and ear anomalies and/or deafness (CHARGE) syndrome; Alagille syndrome; cat's eye syndrome; Cornelia de Lange syndrome; Klippel-Feil syndromes; and trisomy 21.8 ◦Maternal diabetes mellitus; maternal phenylketonuria; and maternal ingestion of retinoic acid, trimethadione, or sex hormones increase the risk of conotruncal abnormalities. Infants of mothers with diabetes mellitus have a 20-fold higher risk than infants of mothers without diabetes mellitus