More on Elie's Story

Here's an update about Elie, the baby we blogged about back in March, who was diagnosed with VCFS after she was born. This post is written by her mom, our friend Holly Smith:

What a difference a day makes—or, in this case, a couple of months.

After grappling with Elie’s VCFS diagnosis, we were brought back down to earth: In June, she was diagnosed with pulmonary hypertension (PH), a chronic, potentially fatal condition where the pressure in the vessels leading to and from the lungs is too high. Although they’re making tremendous strides in treating PH, the reality is that most people with PH die of PH.

So, in my darker moments (of which there are many), I'm terrified that Elie will die. Horrified. Paralyzed. Literally unable to breathe from the stress of it.

BUT.

In other moments, I stand back and remember that she has as good a chance of beating PH as anyone else. The advances in treatment are coming fast and furious.

Even better, we learned at Elie’s angioplasty last week that her PH seems to be confined to just her left lung (something that’s practically unheard of).

If this continues to be the case, it could truly be a game-changer. Even if Elie needs to have her left lung removed someday, she could conceivably live a full, productive life with just one lung.

Honestly, when we got that news, it felt like the governor calling at one minute ‘til midnight. That’s how huge it was.

I even cajoled our PH doc into dropping the clinical-detachment crap and giving us a “Rah, rah!” before we checked out of the ICU after the angioplasty. It was a small victory, but we’ll take anything we can get for our “win” column.

Anyway, I have to believe that she'll make it. I really, really do. Because I can barely function during those times when I ponder her death; it truly makes the floor drop out from under me.

I'm trying so hard to live in the moment, as they say, but it's tough. I was holding Elie the other day, listening to the radio, when "Happy Together" came on. One moment, I was singing, "I can't see me loving nobody but you for all my life" to her, and the next, I was sobbing.

It's an overwhelming dance to do.

However things go, I’ll continue posting updates to www.carepages.com (search under “EliesPage”); I’m praying ferociously that it’ll be all good news from now on.

Elie's Story by Holly Smith (about Velo-Cardio-Facial Syndrome)

The post below is written by our friend, Maryland-based writer Holly Smith, about her daughter. We offer it to readers who want to learn more about 22q11 microdeletion, which is the most common genetic abnormality after Down syndrome. The picture below is of Elie two weeks after she had heart surgery. The picture at the bottom is of Elie at three and a half months, smiling on the couch.



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.