Few would have similar reactions to Cornelia de Lange Syndrome. It terrifies us if we think about it in its totality: retardation (though some have normal intelligence); speech delays that can last into adolescence and limitations that linger for a lifetime; extreme shortness; behavior problems; digestion issues and a host of health concerns that cause many to die before their parents.
Hope was officially diagnosed with it Tuesday.
Our geneticist, who writes 12 paragraphs explaining that he has nothing against blue, yellow or chartreuse when you tell him he has a nice red tie, surprised us by clinically diagnosing Hope. That means he took a long look at her and made the call after seeing numerous similarities with CdLS kids -- including small hands and feet, a thick head of hair, a button nose, mile-long eyelashes, pointy pinkies and several other markers. We're also following up with an analysis of her blood in a 50/50 bid of zeroing in the faulty gene that caused the condition.
We knew the diagnosis was only a matter of time. In some ways, it's a relief because CdLS has a better support network than some other conditions. But it's still sobering to erase any last vestige of that late-night, "Hey, maybe they got it all wrong" false optimism.
We've been circumspect about CdLS on the blog because Hope lacked a diagnosis and we don't want people to judge her. We refuse to allow CdLS to define our daughter. She's Hope B. Kurth, the little auburn-haired cuddler with Greta Garbo eyelashes and Betty Boop eyes. And like most other genetic conditions, there's a variation of severity. There are signs to indicate Hope has a milder strain. There are others that aren't so encouraging.
The sense we get is things will settle down into some new version of normal after one or two years that are challenging as hell: A gazillion doctors; anxious and fearful nights; and a tricky social adjustment from having strangers say "What a cute preemie" to asking us why our year-old daughter is 10 pounds.
We still don't have any great explanation for why this would happen. Basically, it's one -- perhaps two -- mutated genes among the 28,000 to 120,000 that we all have. Unlike other conditions, CdLS is dominant. That means you can't be an innocent bystander carrier: If you have the gene, you have the condition. Neither Mo nor I do, so Hope's condition was caused when sperm met egg and one or two rebel genes refused to cooperate.
We wish Hope didn't have the condition, but we believe that she is who she's supposed to be. The wacky hippy church we've attended for the past few years calls everyone "individualized expressions of God." That has a nice ring to it with Hope, who I'm sure isn't nearly as angst-ridden about her diagnosis as her parents. That's important: It's not about us. If she's happy, we're happy and to hell with the rest.
So the fears and meditations can wait another day. Hope's most pressing issue today is that she's a baby. And she's doing a fantastic job at being one. Today, she graduated from the finger sandwich to the full-on thumb suck. Sitting on her Mom's knee, after a feeding, Hope looked us in the eye and thought, "Check it out, I'm putting this thumb in my mouth and giving it a suck."