Wednesday, January 16, 2008

A diagnosis

When Mo's pregnancy first showed signs of trouble -- measuring small, low levels of a certain protein, heart defects -- our reaction was perfectly 21st century normal. First, we cried. Then, we Googled. Mo found a delightful condition -- Williams Syndrome -- that seemed to match all our problems. We told ourselves, "Man, if our daughter has to have a genetic condition, we hope it's this one." Kids with it are mildly retarded, extremely sociable, love to laugh and are excellent musicians. It's like DudleyMoore-Itis.

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."

It was wonderful and so gratifying. We laughed, smiled and felt proud. And it made me think about another difference in raising a special-needs child: We may have to wait a bit longer for some of the rewards, but when they come, they're extra-sweet.


beth said...

Joel, you're a gifted writer; that was lovely to read. I guess the tired old platitude of taking things one day at a time is appropriate. Hooray for the thumb suck!

Love ya.

amkurth2 said...

Can't wait to see her! And you, of course. I'm glad you're focusing on her Hopeness, not her CdLS-ness; she's our princess!

poobles said...

Second the motion on the gifted writer -- I think you should ask for a raise at work! She's a beautiful precious baby, regardless of the "tag" attached to her. Hooray for Hope.

Wesley said...

You guys are the strongest people I know, even though I've never met you. I enjoy reading your blog and wish you all the best, you have a sweet little girl.

Sonia said...

Hi, I don't even know how I stumbled upon your blog, but just stopped to say that Hope is adorable. I also have a beautiful baby girl with CdLS, her name is Natalia and she's 16 months. I try to keep a blog, it most certainly is not as beautifully written as yours ;-) but I have fun with it and my family con keep track of us.
I can relate with what you're felling. And you are completely right about our kiddo's accomplishments tasting sweeter. Natalia constantly amazed me, I think it has to do to letting them have their own time line.
Would you mind if I add you to my blogroll?
Take care!!

Anonymous said...

thank you for sharing so much with all of us,my whole family checks in all the time to see how all of you are doing.....I to attend that wacky..hippy church for a very long time and they also say pray in numbers,more people .....more energy and I believe that with all my heart,so many people sending so much love and prayers to your sweet Hope & her loving brave parents, true too is that this is not for the faint of heart....not for the sissy' being a parent is hard enough but your plate is definitely full and what a hell of a job you two are doing!

Karen said...

CdLS is definitely not an easy diagnosis to get, but it's not the end of the world. Life goes on, and that's a good thing; for us it did get easier with time. We are still hopeful for the future even though our son Ben is on the more severe end of the CdLS spectrum. And you are right about the sweetness of delayed rewards.
Best wishes to the three of you; I hope we get to meet one day!