We heart Xmas

By some misfortunate fluke of scheduling, Hope's annual heart examinations always seem to fall near Christmas. And nothing pauses the Holly Jolly quite like anxiety over aortas.

True to form, Hope's annual checkup was Thursday. We switched doctors this year, transferring from the lovely cardiologist in the suburbs to a doctor at Children's Hospital of Detroit, which performs surgeries should they ever be necessary.

It was a long checkup, 2-hours plus, all told, and Hope performed like a champ, giggling at the EKG leads and fiddling with the echocardiogram as the docs checked out her ticker.

The good news, and it's great, is that Hope's issues are status quo. She has a bicuspid aortic valve, which means the valve that regulates blood flow from the heart into the aorta has two leaflets rather than three. She also has a slight jog in the curve of her aorta, which could be suggestive of a very mild coarctation or narrowing. That could present an issue down the road with blood getting to where it should, and worse case, one day lead to a stint to open it and keep things moving.

Or maybe not. So far, neither present a problem. Her blood pressure's great, the blood is flowing like a trucker on 5-hour energy drinks. As it was last year, these are just things we have to wait and watch as they develop. We see them again in a year.

Until then, it's back to the holly jolly stuff.

Hot to trot

Classic good news/bad news this week. Since everyone loves the good news, that's where we start: Hope had a whiz-bang, woowie-kazowie, tip-your-waiters-and-waitresses 50 percent Super Bowl, and not just because she won two squares and $10 in the pool.

It was after halftime. The commercials were blah as ever. We had bellies full of pig-in-a-blanket mini weenies and were looking for kicks. So was Hope. Literally. Laying on her back on a blanket, Hope began her windup: She flapped her warms, shook, shimmied, twisted, grunted and melodically kicked her leg four times on the blanket like she was cajoling a reluctant motorcycle.

Hope got the rhythm. The momentum followed. Like an uncorked, windup dervish, she heaved. Umph. One leg over. Hunka-hunka-oomph. Two legs over and presto! She was on her belly. We cheered like we cared who won the game. We returned her to her back, watched as she began her signature windup: Kicking her right foot four times, allowing the mojo to flow and -- thwump -- rolled over again.

She did it three times that night. Each time, the cheers grew louder. After 15 months and creeping ever-so-close, Hope had finally -- consciously -- rolled from her stomach to her back. We add the caveat because she's been rolling over in her sleep for weeks. But we figure that doesn't count for the Guinness Book unless she really wants it.

We're thrilled, of course, so much so that the bad news seems minor.

Our wood-paneled-dwelling, septuagenarian optometrist, Dr. Speakupsonny, reminded Mo that Hope will need glasses in the next six months or so. Since Hope already wears hearing aids, he thinks she should wear something durable. Something unobtrusive. Something plastic and multicolored.

They are known as the Mira Flex. They are billed as "flexible and safe." Here are beautiful models wearing the glasses whose instructions include tips such as "warm and shape according to need, compensate by overfolding. Make sure the temple is cool before placing on child's face."

Mo is mortified, insulted and practically speechless. One week later, she's still steamed.

"There's no way ... and I mean no way ... I'm putting our baby in Mr. Potato Head glasses."

Upon further review, I'm not sure she's that far off.











(Note: Dad is a dum-dum. An earlier version of this post said Hope had rolled from belly to back, which she's done for month for months. It was the back to the belly that made our zoom-zoom go boomity-boom)

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.

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.

Covering the bases

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."

Mystery solved?

We like to think we're clever people. I almost solved a Suduko once. Mo kicks some serious patootey at Scrabble. We're both self-aware enough to know that few things can make you feel so dumb, so fast as child-rearing.

We've been in fits over Hope's mystery ailment. She has a bad cough. She's running a low-grade fever. Her diaper rash looks like the surface of Mars. She drools like Marmaduke eying the mailman.

Last week, we took Hope to the pediatrician. The diagnosis: Who knows? Maybe she has an ear infection. The treatment: 10 days of bubble-gum flavored antibiotics.

The drool, two-pack-a-day cough, diaper rash and boogies persisted.

Next came Internet research. Is it allergies? Do we need to find a good home for Lulu or -- horrors -- actually start cleaning the house?

We were onto the rock 'n' roll pneumonia and the croup before Mo put it all together.

Bad rashes. Coughing. Drooling. Irritability. Mo stuck her hand in Hope's mouth.

Son of a gun, we think our girl is teething.

One of the dangers, I think, of having a child with a fairly exotic genetic condition is that sometimes we skip over the simple causes for her discomfort.

But it's sometimes complicated stuff: We got the tests back from Hope's endoscopy a few weeks back to measure her reflux and determine why she spat up blood. Once again, the inscrutable Dr. Spitenup threw us for a loop. The results showed mild inflammation of the area near where the stomach and esophagus meet.

Translation: A bit abnormal but not the horror show we expected. So, once again, we've dodged our worst fears. And for that, we're happy.

Mojo interrupted

We should have seen this coming from Mars. We broke every difficultly learned lesson. We messed with mojo, scorned superstition and jinxed our juju.

Never, never, never tempt the Fates so brazenly as to post a video online to the tune of "Happy Baby."

Since it's been up, she's been anything but. Like a moldie oldie, all her Greatest Hits are back: Inconsolable tears, fussiness, whining and reflux.

For the first day or so, we thought it was cyclic. Then, we worried about a cold or allergies. When she spat up what appeared to be old blood yesterday, we knew it was time to call upon our old friend, the gastroenterologist, Dr. Spitenup.

He shined a special light today on the evidence -- a dirty bib -- and confirmed our fears. It's blood. She's not just depressed about the cancellation of "Gilmore Girls." There's a serious rum-tum-tum in her tummy and throat. So it's time to take a look and get serious, once again, about her nemesis, reflux.

She's scheduled for an out-patient endoscopy next Wednesday at our home away from home, the Pediatric Intensive Care Unit at Beaumont Hospital. She will be sedated. Spitenup will snake a scope down her scope and assess damage to her esophagus. If it's isolated, we'll likely stay the course of twice-daily treatments of Prevacid. If it's not, we'll have to get more aggressive and perhaps try more medicine.

Quick lesson about reflux: It's the bane of kids with CdLS. The stomach shoots liquid up the throat. Sometimes, it is spat out the nose or mouth. More often. it is swallowed. It's heartburn and majorly annoying. Aside from surgery, it isn't solved but managed with medicines like Prevacid that neutralize acids and prevent corrosion of the esophagus and mouth.

We have come to respect Spitenup and his mysterious ways, but his conservative, stay-the-course approach sometimes rankles. We're bummed to return to the hospital -- even for just an afternoon -- for the third time in as many months. We're sadder still that the baby who was so happy a week ago is so miserable. But we're glad that Spitenup finally seems to be taking us seriously. For too long, we've stuck with wait-and-see. It's time to act.

And this time, we've absolutely, positively, cross-our-heart, rub-a-rabbits-foot, find-a-four-leaf-clover learned our lesson. No more sweeping declarations announcing the glorious state of Hope to the world.

From now on, it's strictly facts ... unless of course, the reverse-reverse-mojo rules apply and the mere act of stating that she's miserable leads to a dramatic turn in her temperament.

Simple procedure

Neither Mo nor I want to verbalize it, for fear of hexes, but this could be a huge week for Hope. We got the long-awaited call late last week: The surgery for ear tubes is Friday, followed by a BAER test to determine if they did the trick.

If they do, my oh my, she can hear.

Supposedly, it's a routine, short outpatient operation. She goes in early Friday, is sedated so her head remains perfectly still, undergoes a 15-30 minute procedure to implant the tubes, has the hearing test and should go home that afternoon.

Our pediatric ear-nose-and-throat specialist, Dr. Frosty, has a good track record. This is his bread-and-butter. He's only failed to implant one patient and he got them in on the second try a few months later. But No. 2 is inevitable at some point, and he cautions that Hope's ear canals are tiny.


Like a lot with Hope, we don't want to get ahead of ourselves. We need to temper our nerves, excitement and wide-eyed eagerness with sober realism. There's a chance it won't work, so we'll have to proceed to hearing aids, wait until Hope gets bigger and try again. There's a chance it will work, the tubes might not make a difference and she'll need the aids anyway.


Either way, the odds of improving Hope's hearing are good. She has conductive hearing loss, which means the inner workings of the ear are fine but there's a blockage that prevents sound from reaching them. The tiny canals may be the culprit, but so could wax buildup, fluid or a missing bone.

We're convinced that Hope's hearing has slowly improved since the first BAER test, which revealed she could detect sounds at high pitches or extreme volumes. She startles sometimes. Every once in a while, we'll call her name and she'll turn to us. Then again, one of our smoke detectors is perilously close to our oven. It squawks nearly nightly. Hope doesn't seem to mind.

So we've proceeded as though hearing is an inevitability. We read to her. We sing her songs. We babble about our day and carry on conversations that she likely can't hear. But she sees us moving our lips and pays rapt attention. Hopefully, when those wagging lips begin to produce sounds she can comprehend, she'll put it together and life will be good.

But you never know. Dr. Frosty assures us that kids are resilient and "do fine" after successful surgeries. Still, we wonder about the adjustment. All of a sudden, if things work the way we want, Hope's world will expand exponentially. In addition to sights, smells, touch and taste, she'll have this whole sensation to figure out. Will it be melodious or cacophony? Will it expand her burgeoning sense of wonder or simply overwhelm? Will "Running Away from Mom" sound nearly as cool if she can hear my singing?


Nor are tubes a cure-all. Sometimes, I've deluded myself into believing that our path will suddenly become easier once tubes are implanted. The skies will open. God will rain M&Ms from the sky and remove the brown ones. And I will suddenly have a full head of hair. Big Mo brings me back to Earth, pointing out that hearing is just one part of the puzzle toward communication, which is always a challenge with Cornelia de Lange kids.


Still, we're excited. The benefits are hundreds of times better than any niggling concerns and it's such a relief to finally be doing something after what seemed like months of limbo. So we do what's beginning to come naturally: Take whatever comes as a gift and roll with it.

Stupid intuition

Every once in a while, intuition kicks in and whispers in your ear: “Life is about to turn to Hell, buddy. Pay close attention.”

So I did. There's Mo, holding Hope's finger as she's wrapped in an iron blanket and led between two massive industrial cameras. "Ain't Too Proud to Beg" is on the radio and that nice technician who seemed so chatty five minutes ago becomes very quiet as the test concludes.

Intuition is practically screaming now: "The technician knows how bad it is. That's why she's not saying anything. Hope is in rough shape. She needs surgery."

Stupid intuition. You blew it again. Hope is fine. As is her wont, she once again exceeded our worst fears and continues to confound her perplexed parents.

Hope's utter unpredictability -- great one week, terrible the next, acing tests we think she'll fail and vice versa -- may be maddening. But it's also quite endearing. Like many great artists, Hope is inscrutable. The minute she thinks you have her pegged -- boom -- she'll zing you for having the audacity of presuming she's that easy to figure out.

The latest moment came amid tests during 50-hour hospital stay that was alternately stressful and peaceful, exhausting and restful, interesting and dull and worthwhile and worthless.

We arrived home late Saturday afternoon with the exact same plan we had before setting foot in the hospital: Hope is now on eensy amounts of supplemental oxygen piped into her nose through a cannula while she sleeps. It's supposed to help her apnea, and so far, so good.

But getting there was interesting. The carefully mapped plan for the hospital of weaning her to increasingly smaller flows of oxygen and testing whether it makes her lazy quickly faded. She slept on oxygen Thursday night. The next morning, the attending physician walked in and said, "Well, she didn't have any episodes. I guess it works. What do you want to do? Wanna leave?"

The plan in tatters, we opted for another night of observation. Since we had the time, we also had Hope undergo a gastric emptying test -- a two-day affair scheduled to start Wednesday -- to measure how much food she spits up and whether some spills into her lungs.

That test, in the bowels of Beaumont Hospital, consisted of feeding Hope milk laced with a small amount of harmless radioactive material. Similar to a stress test, she was then wheeled under two cameras that took photos of the material every 60 seconds for an hour. It traced how long it took Hope to digest her food, how much was refluxing back up her esophagus and whether any of it was getting into her lungs or aspirating.

The results were a big deal. If she was aspirating, she would have to undergo a surgery to shut off her esophagus. A feeding tube would be installed at the same time. But if the test went well, it's full-steam ahead to put tubes in her ears and trim some of her larynx.

Despite the nagging, ominous warnings of my intuition, the results were tame: Hope has some reflux that comes back about a third of the way up her esophagus; half the contents of her stomach empties in about an hour; and milk doesn't get into her lungs.

Translation: Normal.

Prepared for the worst, we hadn't even considered the possibility. A day later, it's still confusing. For three months, we've based her care on the knowledge she has severe reflux. Some days, she would spit up 4 times if we didn't hold her perfectly upright. Heck, further evidence this morning forced me to change my shirt -- and that doesn't happen often.

"That little girl is becoming pretty good at making liars out of us," Mo said after the test.

If she is, she's making us happy liars. The Inscrutable Kid rides again.

Lancelot's larynx

As if we needed a reminder of how unusual life has become, the moment came last night. A nurse spent an hour measuring Hope's head, marked it with red dots from a wax pencil, affixed a dozen electrodes and leads and finished with the piece de resistance -- wrapping her entire head and neck in a gauze mask to keep the wires from crossing.

It was tough to watch. Her little head was covered in wires. The gauze left her face exposed but covered her head and neck. My mind raced: This is freaking wrong, you shouldn't be 3 1/2 months and have a head full of electrodes to measure brain activity. She looked pathetic, but I couldn't decide if she looked more like a Depression-era football player or an onion.

Mo settled the debate.

"Hello my little Lancelot. Have you found your place at the Round Table?"


That was the one moment of levity in an otherwise long night during Hope's long-awaited sleep study. We don't get the results for a week, but we doubt they'll be good.

The study, which kept her in a surreally spooky clinic overnight, used electrodes, belts and other gizmos to measure the quality of Hope's sleep, especially her breathing and apnea. Those are the brief interludes when she stops breathing, catches herself and thinks "Hey! I'm not breathing!"

The fear is Hope's acid reflux is causing a blockage in her throat. Or perhaps her floppy airway, or laryngomalacia, closes during deep sleeps and suspends her breathing. Either way, we need to figure it out. Surgery is in her near future for ear tubes to help her hear, and her apnea could be cured by a surgical tweak during the same operation.

The study was about a mile from Beaumont Hospital in a non-descript office building that appeared otherwise vacant. It was all so strange. We got there about 7:30 p.m., had wait for 10 minutes to be buzzed in, then were led into a basement. We were ushered into a room that sort of looked like a hotel, except one with a camera that moved when you did and a loudspeaker from which unseen nurses and a neurologist could bark commands.

Big Brother was watching.

The study videotaped eight hours of sleeping, as well as brain activity, breaths through Hope's nose and the elevation of her chest and stomach as she inhaled and exhaled. A doctor will evaluate the results and make recommendations.

They might not be pretty. Hospital rules only allowed one parent in the room through the night. I stuck around 90 minutes, then hightailed it home. The ladies returned about 6:30 a.m. It was an especially bad night. Hope woke up about six times, was given supplemental oxygen through her nose because she wasn't breathing well and threw up all her milk about 4 a.m. Mo didn't get any sleep.

We're tempted to make excuses. The place was weird. The heating system was loud. How would you sleep if you were covered in wires and belts and videotaped? It was just one night. Swell questions, we know. But they're not going to change the results.

We have a lot of fears about what's next. We worry the cure may involve more complicated surgery or supplemental oxygen at night. But the sight of Hope covered in a spaghetti-strand tangle of wires reminds us yet again that we're way past the point of fear. We need to buck up and do what's best for her.

Guinea pigs

(Hope, meet Gavin. Five and a half pound baby, meet nine pound baby. Slobbering ensues.)

We're becoming guinea pigs. It's nothing to aspire to. If you think about it too hard, it's glum reminder of what rare, freaky straits we find ourselves in. But it could do a lot of good.

Even though Hope was diagnosed a few weeks ago with Cornelia de Lange Syndrome, we are proceeding with blood tests to confirm it -- a process that could pinpoint the specific gene that went awry to give the syndrome to Hope and Will.

We're enlisting in a study by Children's Hospital of Philadelphia of families with multiple CdLS children. Hope's blood first will be analyzed in hopes of finding the gene. If it is, they will follow with blood from Will that we banked when he died.

We've had chats about entering the study. On the surface, it seems redundant. We instinctively want to protect Hope. Drawing her blood to map her genomes and sharing those results with the medical world seems like the ultimate intrusion.

But the potential benefits outweigh those qualms. Foremost, it could further understanding of a condition we wish didn't exist. It also could assist us if we roll the dice with future pregnancies.

Research is moving swiftly, but it's still mostly a small-scale operation run largely from Children's Hospital of Philadelphia. There's simply not that many kids out there; it's thought to affect 1 in 10,000-100,000 live births.

And there are far fewer families with more than one CdLS child. Supposedly, 1-2 percent have multiple children with the syndrome. But it's a bit like lightning striking twice. Caused by one gene mutating and not forming correctly during conception, CdLS is a dominant condition. That means if you have the gene, you have CdLS. Neither Mo nor I do.

There's a complicated explanation for why this would happen twice called germline mosaicism that involves a problem during meiosos, the process of cell division in sexual reproduction.

That's a tough concept to wrap your head around. Mo summed it up best when she said, "One of us is kicking out some messed up sperms or eggs."

The tests to find the gene are being run by Dr. Ian Krantz of Children's Hospital. He is one of two scientists in the past few years to isolate the cause of CdLS to three genes among the 30,000 or so we all have. One or the other is all it takes to cause CdLS: All are located on the fifth chromosome of the 46 that form life.

The test is hardly a sure thing. Common syndromes like Down Syndrome are easy to confirm at a microscopic level because they involve an entire missing or extra chromosome. Kids with CdLS have the correct number of chromosomes, but one bad gene within one of the 46.

The difference is like looking at a house from a satellite. Finding Down is like noticing it's missing a wall. Finding CdLS is like peering through the window, going around a wall, opening a door and noticing the missing sock under the bed.

And the results may not give us much comfort. The tests are able to find the gene only about half the time. When they do, they usually find a gene linked to classic CdLS, a more severe variety associated with greater retardation. There's a small chance of finding a gene that causes the milder strain.

Failure to find the gene means nothing. Hope still has CdLS.

But the payoff could be great. We'd like to have another child. Everything we've read or heard leads us to believe that children with CdLS do far better with siblings they can mimic and learn from. And it would help us too. We still crave those rich, mundane passages like soccer practice, spelling bees and junior proms that we may not get to experience with Hope.

Finding the gene could help our odds. Our crash course in genetics has taught us that, no matter how bad the condition, the worst odds of recurrence are 50/50. Ours are presumably more than 2 percent and less than 50.