Sunday, August 31, 2008

On again


Our pal, Dr. Spitenup, continues to confound. Hope's poop tested negative for old blood Friday. We thought that would trigger more monitoring. Instead, Spitenup threw a curve and wants to go ahead with the endoscopy sceduled for this Tuesday.

We're not thrilled. Hope has been in such a giddy mood lately we'd think she was on goofballs if we didn't know better. We're anxious about messing with that mojo, but eager to try to learn more about the source of her intermittent bloody up-chucking.

Like most with CdLS, Hope still struggles with feeding, reflux and digestion. We've stuffed her like foie de gras. She's taken to solid foods -- particularly oatmeal and peas -- like Mikey to Life Cereal. Even so, her slow weight gain has slowed even further. She's put on only about a pound over the summer. Our goal of having her hit 10 pounds by 12 months seems unattainable.

If the endoscopy can provide some answers, we'd be thrilled. Our fear is the opposite: We'll subject her to tremendous discomfort and learn nothing. The alternative, of course, is inertia and that does no one's Breck girl any good.

Speaking of which, we're not being modest about Hope's supposed debut in the CdLS Foundation's monthly newsletter. We've heard rumors for a week that her photo graces the pages, but we're stumped.

We play it cool around the mail lady, but peep out the windows in anticipation whenever she's in the neighborhood. Super-duper telekinetic powers to the contrary, our copy has yet to arrive. But prepare for some serious chest-thumping, "Yeah, that's our girlie" when it does.

Thursday, August 28, 2008

Three generations

Our pal, Kim, took this photo after the wedding. It's nice that not everyone is on a photo hiatus.

Poop collectors



One terrific thing about parenthood is the intensity of the experiences. Joy, wonder, pride, worry and love are redefined in ways so transcendent you question whether you fully experienced them before.

Then there's the little stuff, like poop.

I thought of that this morning when I applied a Popsicle stick ever so delicately to Hope's diaper and smeared it on a small sample strip. Moderation was key. Wielding a metaphor like few can, our gastroenterologist, Dr. Spitenup, warned, "Just a little will do. Don't put it on there like a prostitute putting on makeup."

Oh, Dr. Spitenup, how we've missed you.

Like Chuck Berry, zoologists or those guys in "Jurassic Park," we're collecting poop this week. Even the package is creepy: We wipe the poop on a piece of cardboard with three little pockets for each days' sample. Each package is labeled, "Hemoccult, The World Leader in Occult Blood Testing."

Insert joke here about "Rosemary's Baby." But if you're going to test occult blood, it's nice to have the world leader.

Anyway, the hope is to get to the bottom of Hope's sporadic old-blood belching episodes. They were weekly occurrences in early summer and have since tapered, but haven't completely gone away.

Spitenup's hunch remains that as Hope inches closer to sitting up -- she is getting there but has a ways to go -- she is using more of her stomach muscles and irritating her hiatal hernia. She is scheduled for another endoscopy Tuesday. That's a terrible out-patient procedure she underwent in spring that requires sedation and snakes a scope down her throat with an attached camera. It throws her for a loop for about three days.

If there's no blood in the poop, we can probably avoid the prospect and keep monitoring the situation. Dr. Spitenup doesn't like to be rushed.

We find out Friday. Mo is dropping off the specimens on her way to -- ahem, ahem -- work.

That's right. She made the monumental decision to return two days a week, starting today. It hasn't been easy or without its share of Spitenup-worthy gut wrenching. Mo went on bed rest several weeks before Hope was born, so it's been nearly 11 months since she worked. She worries about getting back into the grind. We're anxious about leaving Hope in the hands of others.

Ultimately, we think it's the right decision for her and for us. The nice thing about working two days is that, no matter the stress, tomorrow is always Friday or the weekend.

We found a nanny nearby to watch Hopesy on Thursday. She has experience watching a child with a similar syndrome, so that is comforting. Fridays, Hope is whooping it up with super-nanny, Granny Clem. I'm not sure who is looking forward to it more.





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Wednesday, August 27, 2008

Photo fatigue



Alright already. We get it. We are bad bloggers. After 10 months of draining our hard drive with gigabyte after gigabyte of snapshots and videos, we're photo fatigued.

I'm not sure when it struck, but it couldn't have come at a worse time: High summer, the peak of the social season. Last weekend, we should have snapping away at the social event o' the year -- Hope's star turn as the flower girl at her Aunt Annie's wedding in a northern Michigan winery. Somehow, we blew it again.

So take our word for it: Hope knocked 'em dead again, strolling down the aisle with her Dad, a nifty wreath of miniature roses in her hair.


These photos are from my Mom, who flew in for the big event for babysitting duties.



Much more soon. We promise.

Saturday, August 16, 2008

Covering the bases

video
In journalism, this is called burying the lead. In comedy, it's called a delayed punchline. Either way, it goes something like this:

Mo: You really should post a blog update saying Hope is feeling better.

Me: Uh, OK. (Thinking to myself: "Damn, every time we announce Hope is doing well, something bad happens.")

We're not sure this qualifies as good, bad or neither, but two hours after posting about Hope's triumph over Roseola, an envelope arrived from Beaumont Hospital's Genetics Department. Inside was the long-awaited results of her genetics testing.

The short answer: Hope has a mutated gene typically associated with classic Cornelia de Lange Syndrome.

That is the more severe variant of the syndrome that poses more challenges.

Using microarray analysis, a high-tech look at microscopic spots of DNA, researchers at the University of Chicago analyzed one gene. It's called NIPBL. The test essentially checks to see if the sequencing and building blocks of the gene are as they should be.

Attached to the letter were the laboratory results in big bold, upper-case letters is a word we've seen too often and still hurts to see: ABNORMAL.

It's complicated stuff, but the Cliff's Notes version is that genes are recipes for making proteins that, in the formation of life, tell the gooey blob that becomes a person how many amino acids to string together. At first blush, it seems cruel and capricious that one gene among 20,000-40,000 could have such a profound effect: everything from small stature and arched eyebrows to retardation and limb abnormalities.

If she had to have a mutated gene, why couldn't it be the one that makes cilantro taste spicy?

It's not that simple. NIPBL is an important gene. It's something of a regulator that tells other genes how many amino acids to produce. It's not a perfect analogy, but it's almost like a bad Christmas tree light: One blown fuse can dim the entire line.

The other gene associated with CdLS is called SMC1A. Those who have that mutation tend to have a milder form of CdLS and fewer challenges. It's sometimes so mild that parents may not suspect something is wrong until their child is 3 or 4 or older.

We always knew that wasn't Hope. We've debated the severity of her condition -- and still do -- but knew she isn't mild. Geneticists have a checklist for CdLS. Hope has at least a dozen of the indicators.

So we suspected the news was coming, but there's still comfort in uncertainty and a maybe, just maybe sliver of buoyancy that our hunches could be wrong.

They weren't, but the letter brought some relief as well. Our game plan all along to undergoing the test was two-fold: To help the understanding of recurrence of CdLS by participating in a Children's Hospital of Philadelphia study of parents with multiply affected children; and to help ourselves with future pregnancies to maximize our chances of a child without the syndrome.

That could means more tests, perhaps of Will's banked blood and perhaps ours as well. The hope is that by isolating the gene, a fertilized egg could be tested for that gene's mutation before implantation. It's an oddly sterile and slightly creepy concept, but such are the hands we're dealt.

And they're not bad hands at all.

I was sad when I read the letter. We have a better sense of Hope's future than we did yesterday, and it can be scary in its totality. But microarray analysis is a crap shoot: In the best cases with CdLS, they're only able to discover a mutated gene 50 percent of the time. And failure to isolate the mutation changes nothing. It doesn't mean children aren't classic or mild. It simply means they couldn't find the mutation.

In that sense, we're relieved.

I was worried about Mo's reaction. She sighed, whispered "that sucks," and then came home and held our baby.

Hope laughed and smiled. We don't know what the future portends. There's still a range of abilities in classic CdLS. After a few months of stridently checking the development chart, we're now focused on what she can do, not what she can't. And Hope is doing so much and making us so happy that it's impossible not to be optimistic. We named her Hope for a reason.

Mo re-read the letter. It was from one of our favorite doctors. We like him so much because he gives us such great material. Straight from Central Casting as the intrepid, nerdy scientist, he's big on footnotes and thoroughness.

Delivering the news we wish we didn't have to hear, he closed a letter dated Aug. 13 with "With my very best wishes for the Holidays and New Year."

"Well," Mo said, folding the letter. "I'm glad he made sure to cover that base."

Arrivederci Roseola

Sound the fuglehorns and cue the choir: Our girl is back. Some 10 days after a nasty bout of Roseola, Hope seems to have finally licked the mighty bug. She's been rebounding all week, but seemed to finally return to her own Friday, playing with toys and smiling her patented billboard-sized grins.

Hope's also mastering a nifty new trick: Grabbing her oatmeal spoon and jamming it into her mouth with roughly the same vigor and grace as her Mom attacking a box of Cheez-Its. It's great to see.

We're not completely out of the woods. Are we ever? After a month sabbatical, she spat up more old blood overnight, a sticky, thick glob that at first blush could pass for motor oil. Our old friend, the mercurial Dr. Spitenup, wants another endoscopy in early September to see what's what. He's been pestering us about it for about a month, when she was spitting up old blood with greater frequency. We were reluctant because it's requires her to go under and throws her off kilter for about three days. But it's probably a good idea.

A gazillion apologies for being such a lackluster blogger of late. It's summertime and we seem to be in a perpetual state of frenzy. Mo's busy preparing for her sister's wedding next weekend and lining up a nanny to watch Hopesy one day a week when she returns to work part-time in a few weeks. I've been entrenched in the newspaper's coverage of the never-ending train wreck/soap opera/police blotter/political intrigue/funny pages that is Detroit City Hall.

Hopefully, things will return soon to some state of normal. Until then, it's great to see our girl smiling again.

Saturday, August 9, 2008

Sluggish return


Form held true this week. So much for the perfect homecoming.

Hope and Mo arrived Tuesday. There were kisses, Welcome Home signs and lots of sleep. Initially, that seemed understandable. Their trek home from Maine began at 4 a.m. and spanned two flights.

When Hope slept all day Wednesday as well, we worried. When her temperature reached 102, we knew something was wrong. She was listless. She didn't make eye contact. She would sort of wake up for a half-hour, gulp some food, and then fall asleep halfway through.

We phoned the doctor on Thursday and went in on Friday. He seems to think she has a viral and respiratory infection. He didn't seem altogether concerned -- it's the summer sick season -- and prescribed Albuterol to relax airway muscles and increase air flow into her lungs.

Her fever broke today, but it was replaced by a splotchy rash that began on her neck and spread to her back. It may be the virus expunging itself, but it also seems consistent with Roseola, a fairly common and quite contagious virus. Our doctor downplayed the possibility she caught it on the planes, but it seems like a good bet. She's a bit better today, but still pretty sleepy. We go back to the doctor on Monday.

She's had a few bouts of colds, but we've never seen her so completely listless and uninterested. It's tough to see your little one so out of it. She was a super trouper in Maine, in great spirits and charming strangers. I had a hunch she would have a tough time adjusting to home after almost 20 days away, but this was a bit scary.

Hope seems to be turning the corner a bit. She was eating like a champ today and making a run at grabbing the glasses from Mo's face.

We're happy she's home. We'll be happier when she's all the way back.


(thanks for pix, pop)

Monday, August 4, 2008

Homecoming

video

Like all robust failures, the Great Bachelor Experiment of '08 is about to come to its atrophied, pathetic end. The girls return to Michigan on Tuesday, thus concluding 10 days of dynamic loser-dom the likes of which are impossible to achieve without a home weather station, membership to the Mickey Rooney Fan Club and a soldering iron.


The highlights: Riding the bicycle with Lulu; watching Beverly Hillbillies re-runs; poorly executing home-improvement projects; botching Hamburger Helper twice and discovering "Hurl," a game show that combines competitive eating, amusement park rides and puking.


I'm excited to have them back. Thanks to my folks for taking such good care of Mo and Hope and showing them Maine, but 10 days is too long to be away from the ones you love so much.


Here's a video from one of my Heart of Dorkness moments.