Sunday, March 30, 2008

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.

9 comments:

Martha Brockenbrough said...

Wow! That is one adorable baby. Your courage and honesty is an inspiration, and I wish you all the best.

Jennifer, I can't wait to read the bonding book. It looks fantastic.

ShariMacD said...

Oh, beautiful Elie! What a strong, beautiful girl.

Coincidentally, I had open heart surgery on November 12 (but in 2004), and I'm doing great. Must be an auspicious day for open heart!

I was diagnosed with congenital heart disease at four months of age, and my parents were overly careful with me -- always worrying that I wasn't healthy/able (which didn't endear me to my siblings, I'm afraid, and also contributed to a general lack of athletic ability, since I was kept on the sidelines most of my life). What great parents to proceed believing that Elie's as able as her siblings! Great parenting, mom and dad!

Tertia said...

What a gorgeous girl! How wonderful to hear of her bravery as well as the bravery of her parents.

lots of love from South Africa

xxx

Anonymous said...

I am blessed to know Elle and her family and I can attest to how healthy and happy she is. I can't wait to read this new book. I will continue to keep Elle and her family in my prayers. They are a strong bunch and Elle seems to be no exception!!

Anonymous said...

It is wonderful to see a picture of your baby sitting on the couch after such crazy heart surgery. Our newborn is still recovering from an interrupted aortic arch and VSD surgery; she too has VCFS and has a few more physical symptoms -- calcium difficency, cleft palate -- than your beautiful Elie. It is nice to know that there are so many people out there dealing with this diagnosis. God bless

About the book said...

To the last commenter: I forwarded your comment to Holly, Elie's mom. I am sure she'll be very touched by it. If you'd like to be in touch with her directly (to ask questions or trade information), please email me and I'll send you her contact information. I'm very sorry for what you are going through. It's really hard.

Gretchen said...

My daughter was just diagnosed with DiGeorge Syndrome/VCFS 2 weeks ago, and will have surgery soon to correct her rare CHD. It is so good to see that picture of a happy and healthy baby who is further down the road than we are!

Armellia said...

I am currently studying VCFS and i was quite shocked but happy for your daughter because there are much worse cases out there so I just wanted to say that I'm happy for both Elie and your family.

Auntie Bonnie said...

My 5 week old great niece had her heart surgery (truncas arteriosus) yesterday. I am so scared of what the future holds for this little one but found your posting to be uplifting.