Friday, October 23, 2009

Genetic Testing

The day after we accepted Princess' referral I googled cleft lip and palate with the cardiac disease Tetralogy of Fallot. 141,000 sites came up. All of them describing a chromosomal defect that the vast majority of people with both Tetralogy of Fallot and cleft lip have.

I slid my laptop in front of Jonathan. "Read it," I said. "She could have DiGeorge Syndrome. Heart defects we can handle. Cleft lip and palate we can do. But we cannot deal with this."

I reread the medical jargon over his shoulder: mental retardation, severe learning disabilities, hearing loss, compromised immune system, schizophrenia.

He slid my computer back to me and shrugged his shoulders. "We don't know she has it."

"We don't know that she doesn't have it."

"You're focusing on the worst case scenarios," he cautioned. "It also said she could simply need to take calcium supplements."

He was right. The scale and symptoms of DiGeorge Syndrome varied. Some kids who have it show no symptoms. But even still, I couldn't sleep that night.

The next morning was Sunday. I felt half sick. "I'm not sure I can parent this child," I cried. "I'm sure that's why she wasn't placed with the other families who reviewed her file. People get scared when they hear the word "syndrome."

Jonathan sighed. "Let's talk to the specialist at Children's who reviewed her file. Let's see what he says about DiGeorge."

That morning, I sent the International Adoption specialist from Children's Memorial Hospital an email asking if he thought our future daughter could have DiGeorge Syndrome. He emailed me back within 20 minutes and said there was a slim chance, but it could only mildly affect her. The truth was we wouldn't be able to have genetic testing to find out if she had it or not until she was home.

"Do we move on with her adoption?" Jonathan asked me.

I sighed. "This is really about faith."

Jonathan nodded. "It's totally out of our hands. And you can't worry about it."

"Then we move forward," I said. "And I'll do my best not to worry about it."

Fast forward to early October. Every doctor that saw Princess suggested she be tested for DiGeorge Syndrome. So two weeks ago, we met with a team of genetic counselors. They oohed and awed over her. Then measured her eyes, which were too close together, and her ears, which were too low. Then they drew five vials of blood.

And we waited.

"What if she has it," I asked Jonathan.

"So what?" he said. "We can deal with it."

I knew I could deal with it. She would still be my girl. I had no regrets about her adoption. Our family would be incomplete without her. I could handle DiGeorge Syndrome--because I wanted to be her mother.

The next day the genetic counselor called with the test results.

Princess is not missing a part of her chromosome. She doesn't not have DiGeorge Syndrome. Both of her birth defects happened independently--not part of a syndrome.

Our adoption journey has been based on faith. We've been tested in ways that I never imagined. But what's harder for me to imagine is what would have happened had we said no to Princess because of what might have been.

It's just unthinkable.


  1. It is unfortunate that our world's view of any "syndrome" is as you honestly described.

    After spending several days on vacation watching my child who happens to have a "syndrome" enjoy ever minute as if it was his last on earth, I thought...God must be rejoicing in him just as I was. Here is someone that the world views as so different, and yet I learn more and more everyday how much I want to live like him.

    I'm so happy to hear that Evie does not have DiGeorge Syndrome; but I'm mostly glad that you love her unconditionally because she is your daughter and God's child. Sometimes the things in life that don't go according to our plans bring us the most unexpected joy!

  2. I just found your blog as part of the adoptcleft group. This post gave me chills, and ptl Evie is fine! Thank you for sharing!

  3. Okay, I know I keep commenting on your posts, but I remember you talking about this in China.

    Another miracle in the life of Evie. There is no doubt, this girl was meant to be a part of your family. Amazing and wonderful.

    Be blessed,
    p.s. Jolene who wrote the last comment on this one was in Guangzhou getting Tyson at the same time we all were there. She's one of the RQ gang :)