Elie's Story by Holly Smith
Elie (rhymes with "jelly") was born Nov. 3, 2007. Shortly after birth, it was discovered that she had a potentially fatal heart defect, Truncus Arteriosus/pulmonary atresia, along with a genetic syndrome often called DiGeorge (but which is really a "22q11 microdeletion" syndrome called Velo-Cardio-Facial syndrome, or VCFS). It’s the second most-common genetic syndrome after Down syndrome, and can be so mild as to go undiagnosed into adulthood (typical hallmarks include heart defects, palate abnormalities, and characteristic—but not “abnormal”—facial features).
Elie was flown to Children’s National Medical Center in Washington, DC, and underwent an extensive open-heart surgery on Nov. 12, which was performed by Dr. Richard Jonas, a rock star in the field. Despite some drama, it was a total success, and she finally came home on Dec. 5.
Still, we don't know what the future holds as far as Elie's VCFS. There are 181 maladies associated with it, from "profound cognitive/social/physical problems" to "difficulty with math."
We DO know that, so far, we’ve been incredibly lucky. Elie is a wonderful, happy, outgoing baby, and she’s dodged tons of bullets: Her immune system, kidneys, and hearing are fine, her heart is strong, her suck/swallow reflex is perfect, and her blood-calcium levels are normal.
If issues crop up later, we'll deal with them then. What we won’t do, though, is be cowed by this diagnosis. We’re going to assume Elie is absolutely normal and can do everything her three older siblings can do unless or until we discover otherwise.
Some helpful websites:
VCFS Educational Foundation
Cincinnati Children’s Hospital
Children’s Hospital of Philadelphia, which has one of the world’s only VCFS clinics
Also, Yahoo has at least two groups devoted to VCFS/DiGeorge.
