Sitting Up

Henry achieved his milestone of getting into sitting position from his stomach.

One of the features of Fragile X is low muscle tone.  This isn't the "muscle tone" of the fitness marketing industry that actually means "low body fat percentage achieved by wasting time lifting 5 lb. dumbbells."  The term "muscle tone" is derived from the word tonus, which is a state of contraction for the muscle.

FXS's neurological component means that Henry's muscular strength lags behind children the same age as him who aren't affected.  The nervous system has as much to do with strength as the physical size of the muscle.

Henry lacks upper body strength, which is why you see him crawling on the floor using his arms instead of on hands and knees.  But through the last few weeks of physical therapy, we've been slowly building his upper body strength, and the result is the above video.

I first noticed him do this last week when after a long crying bout in bed, I went to check in on him and found him actually sitting up in his crib.  This was significant because the typical milestones have this tabbed at around 6-9 months of age.  Earlier this week, when I saw him drag himself over to where I was feeding Evie then saw him sitting, I nearly cried.

The PT has clearly been helping.  He's getting an intense workout that we normally wouldn't have known about.  And as further aggravation with our pediatrician's office, it's a workout that he wouldn't have gotten through them, either -- they seem to be more content to cycle through well-baby visits and the occasional colds.

They're not equipped to handle special cases that fall outside the norm.

In fact, when we stopped by there this morning after Henry's PT session to ask them for a prescription for orthotics for his feet, they seemed ill-equipped to process the fact that we went to the county's early intervention program of our own volition rather than getting the prescription (because again, we wouldn't have gotten one because the doctors there don't seem to be on the ball about special needs).

So anyway, Henry has about a year's worth of physical development to catch up on, and then to keep up with the expected development for kids typical of his age.

But with moments like the video above and also this morning when he pulled himself onto his knees then onto his feet are the significant rewards.  I'm simultaneously overjoyed to witness these milestones as well as aggravated that we have to make such an effort, that we couldn't have had just a typical run of things with the kids.

All Too Easy

Although there's no official diagnosis, it's clear that Evie has torticollis, just like Henry did.  We noticed that her head tilts toward her left shoulder and she prefers turning her head over her right, which is a significant indication.

For Henry, it took an early intervention specialist at his daycare last year to notice it and to make the suggestion that we bring it up with our pediatrician (who never noticed).  We did so, and our pediatrician subsequently wrote a prescription for a referral to a physical therapist.  The therapy lasted about two and a half months, going from three times a week to eventually once a week as Henry's neck got stronger and more straight.

Since we're familiar with the symptoms of torticollis, we noticed it in Evie right away.  Which means we're going to have to do the same exercises with her that we had to do with Henry last year.

Because things have been so simple and easy so far that we just needed something else to worry about.

On a more serious note, here's the difference.  The left picture shows Henry's torticollis before therapy, and the right picture is after several weeks (though only soon after therapy ended and before he gained even more strength and flexibility in his neck to even out his head position).

Note not just the tilt of his head, but the shape of his jawline.  The tilt of the head flattened his face on the left side, and got to the point where even the shape of his eye was affected.  You can still see remnants of that misshapenness in the "after" photo, where his left eye seems narrower.

Today, his face is much more rounded, but if you look very closely, you can see that his left eye is still narrower than his right.

This is an awesome photo of him after he just woke up.  He wasn't very thrilled with me.

So we'll have to do a bunch of manipulation with Evie's head and neck now.  Whether we need to go to a physical therapist for her for this, I don't know.  But the 3-a-week is probably going to have to start, because we didn't have enough to worry about already.

Things I Took for Granted Before Kids

Finishing a whole cup of hot coffee.

"Hey, you wanna go get a drink?  I know we have some beer in fridge but....aw, let's just go!"

"It's 10 o'clock.  I think I'll get out of bed."

Evie's Here

Little Evelyn was born yesterday around 8:00am.  Her birth went much more smoothly than Henry's -- I think the records that the hospital had from Henry's birth (and what they did wrong) stood out so the staff took a little more care and caution this time.

But this beautiful little girl is currently napping across my stomach as I type on the laptop.  And I have to admit that, knowing she has the full mutation of FXS, I've caught myself looking for telltale signs since yesterday morning.

I also feel it's horribly unfair to her, but I can't seem to help it.  I look at her palate when she cries or yawns, I look at her ears. Her ears aren't as prominent as Henry's, and neither of them have the elongated face that's characteristic of FXS.

But when I do realize what I'm doing, I stop.  I can't condemn this little girl into a predetermined path just because I know too much for my own good.  Just as I can't predict how Henry's life will turn out, I can't shoehorn Evie into an overly cautious path just because of the medical information that floats through my head.

Just as I'm quick to criticize medical professionals for relying on statistics too much to determine a course of action or inaction, I admonish myself for doing the same to this little girl who's barely two days old.

I then remember to hang back and put away the technical manual on babies.  I give her a smile and just enjoy the presence of this little squeaky thing with the cutest cry that sounds like a baby panda.

Another Chapter in "Fragile What?"

Yesterday was Henry's surgery to get tubes in his ears.  One of the many nurses came up for her turn to ask the same questions -- his name?  his DOB?  do you know why we're here?  are you his parents? is he on any medication? -- and got to the part where she had to confirm any other issues or conditions not covered in the "normal" range of questions.  As such, she was ready to blow past the question and move on to the next step.

The question was "any other issues?  No developmental delays, he's walking and crawling....."

*sudden screech of tires*

Us: "Uh, actually, yes.  He has Fragile X Syndrome, so he's got some developmental delays."

*pause*

The nurse was clearly not expecting anyone to actually answer this question in the positive, so her reflexive routine and memorized script were thrown off.

Her: "Oh, is that the one where his bones can break easily.....?"

*brief stunned silence -- tide goes in, tide goes out, you can't explain that *

What we said:
"No, it's a genetic condition that's related to autism, though he's not yet been diagnosed as autistic...." (and then continued with the usual litany of FXS characteristics)

What I thought in my head:
"No, sweetheart, that's osteogenesis imperfecta; just because the word 'fragile' is involved doesn't make a leap to a conclusion appropriate."

My private thought was rather sarcastic, so I was glad that I was looking down and playing with Henry instead while Lori handled the explanation.

It's getting to the point where we're encountering so many medical professionals who don't know what Fragile X is or have heard of it that I'm tempted to carry a box of pamphlets with me so that the people who are being tasked (and paid) to provide care for my children get educated in what to expect and how to deal with it.

I also don't know if my attitude is a result of looking to pick a fight, of expecting to have to explain FXS to people who, one would think, should know more than I do.  But so far, the percentages are not in favor of the medical professionals.

FXAM

Yesterday, we went to our first meeting with the Fragile X Association of Michigan.  I didn't know what to expect, really, because it was my first time attending any kind of a support-group type of meeting.  And calling it a "support group" is simultaneously accurate and inaccurate.

It's a support group in that everyone there is a parent of a child with Fragile X Syndrome, so they get it.  Even though every child is different, there are and will be aspects that set the kids apart from the track of typical kids, or kids who trundle along the average development path.

But at the same time, it's also not quite a support group in that stereotypical image of a 12-step program or "Anything Anonymous" type of group.  We're not there to say that it's been two weeks since our last sensory-overload public meltdown and yay, congratulations to us for achieving that milestone.

No, things like that don't exist.

Nevertheless, Lori and I immediately felt like we belonged there.  It was a small group that night, and the president of the association figured it was because of the Michigan-MSU game, but it was beneficial to us because it allowed us to experience the group meeting without feeling overwhelmed by the sheer number of people.

It allowed us to get comfortable with the group and what others are dealing with and that we aren't alone in this.  There are other families out there who are struggling with acceptance and acknowledgement, fighting with doctors and educational institutions to take our children's needs more seriously, just as we are.

The very things I was frustrated with, when doctors are confronted with a child's condition and development schedule that don't fit neatly inside prescribed compartments of How Things Should Be.  That came as a huge relief, to actually meet people in real life who truly understand what we're going through and what is in store for us in the future.

The group won't meet again until February, so we'll still be the New Family then.  But by getting our feet wet, I think we'll be a bit more comfortable next time now that we know where the meetings are, how to get inside, and what to expect.

It was nice to be able to talk and listen to people who understand where we are without having to hear "fragile what?" or others making presumptions that "oh, he'll get there!  In the meantime, you should do this, that, and this, too!!!  My kids LOOOOOOVE it...."

(yeah, your kids don't have FXS or any other genetic disorder that'll affect them for the rest of their lives)

It was nice not to have to run that parenthetical sentence in my head from behind a plastic smile and nod.

The Home Stretch

We're at 36 weeks now.  If she needed to come now, Evie would likely be fairly okay.

I don't know if we would be, but physically, Little Miss E should be fine with some extra medical care.

We submitted our cancellation notice to daycare to end Henry's time there.  It's a bit bittersweet because we'd gotten used to the routine, and Henry gets a lot of socialization time there.  Plus, with the daycare facility being a part of my employer's organization, I had the option of just dropping in to see him on occasion, especially if I had work to do in that building.

There's a mom-to-mom sale at Gibraltar Trade Center this weekend, so we're thinking of hitting that to look for some supplies and equipment for Evie, particularly a bassinet for her to sleep in.  We have Henry's old rocker-sleeper as well as a small cradle-like thing that came with the playpen that can be used in a pinch, but both of them are pretty low to the ground.  They'd be more appropriate for afternoon naps rather than middle-of-the-night when we're trying to sleep.

I think we'll be okay.  To say I'm not nervous would be a lie, though.

Correlation Leads to Consternation

A seemingly common theme purported by medical experts is that there is no scientifically proven correlation between teething and the collective symptoms of runny noses, fevers, and general crankiness.

This is the problem when one's conclusions are based on statistical analysis rather than a fussy baby that one sees every day.

While there may be a whole mean/median thing to it, I believe there is a correlation.  Especially when the coinciding occurrences of fevers, runny noses, and the vomiting that comes from not feeling good and possible nasal drainage going into the stomach curiously seem to accompany new teeth.

Each.  Time.

So based on such statistical evidence, my son has been catching a cold and then getting a new tooth as a result every few months for over a year.  Got it.

In other news that seems unrelated but will eventually converge back into the central point, we had an appointment with an otolaryngologist.  Henry will be scheduled for tubes in his ears because he's been getting ear infections pretty much non-stop since February/March.  It's been so frequent that we know how to store amoxicillin and cefdinir (amoxi in the fridge, cef at room temp) now without the pharmacy tech having to explain it to us.

While the procedure won't eliminate ear infections, it will reduce the frequency, and that alone is a vast improvement.

How this relates to the central theme of selective reliance on medical professionals' opinions and scientific evidence is this.  We have thus far experienced more encounters with medical professionals who don't seem to be as qualified or prepared to deal with children who fall outside the "Normal" spectrum.

And by "normal," I mean kids who fall around the 50th percentile in everything and reach the vast majority of developmental milestones on time or even earlier.

I understand that doctors see a lot of patients every day, so there's little time to dedicate to special cases.  I get it.  In my line of work, I have little to no time to deal with the Linux operating system because the majority of my work centers around the Windows world, and to a smaller extent, Macs.  So if someone comes to me with a Linux problem, I have to refer them to a Linux expert.

But that comes back to the whole irritation that I've had lately with medical professionals.  So my kid doesn't fall into neat and tidy statistical norms.  I get that.  But at least take our concerns a bit more seriously than floundering around in the shoals of Not Knowing How to Deal With This.

I appreciated that the otolaryngologist at least looked up what Fragile X Syndrome is and its effects and symptoms minutes before coming into the exam room to talk to me, but I couldn't help feeling a bit put off by that.  This was apparently the first time he'd ever heard of it or had to look seriously into it because voila, here's a patient in his facility who has this mythical condition.

I appreciate that research studies have carefully analyzed results to determine that there is not strong enough evidence to support a correlation between teething and fever/runny nose/lethargy/nausea.  Yet, despite the lack of statistical evidence, there is anecdotal evidence that it's a possibility or else, would it really be that popular an Internet search?

I'm a fan of statistics, logic, and evidence.  But sometimes, there will be enough observations that fall outside the normal distribution, outside of the n samples, and well into the alpha range (sorry; getting all stats-happy here).  The point is that the numbers on the sheet of paper that studied maybe 300-1000 children don't always adequately explain the one kid sitting and crying in front of you, who has shown an actual observable linked pattern.

I don't expect scientists to be watching Henry every day for the last 15-16 months to develop their hypotheses (and I'd be a little creeped out if they did).  All I ask is for medical professionals to maybe take me slightly more seriously, even if they're constantly deluged by hyperactive hysterical hypochondriac parents more frequently than they see me.

Maybe even let me finish a sentence.  That'd be nice.

I'd like a medical professional to be able to get to know us just a little bit more to understand that we're trying not to be Those Parents.

I try to research problems with my child before approaching the doctor so that I know what information they need.  I troubleshoot professionally, and while perhaps a bit cold to consider it in these terms, I am essentially troubleshooting my boy.

One night in urgent care, I gave the attending physician the level of detail and observations on Henry to where he asked if I was a doctor.  No, I've just answered the same questions from doctors enough times to where I know what questions are going to come next.  I also questioned the nurse's skills in weighing the boy when she declared him to be about 6 lbs. heavier than what I knew him to be.

It was from that moment that I resolved not to be so damn passive.

I have the utmost respect for medical professionals, but it became clear that they're also very prone to making mistakes and that rolling over when I know they've made a mistake just because I'm intimidated by their educational credentials and professional prestige is a bad way to go.  So there's the constant course correction I'm having to make, that consternation.

Balancing their medical expertise with the expertise I have in my son.  How much do I listen to, and how much do I ignore.  Which battles are worth fighting and for how long.

Catching Up and Cutting Loose

Parents everywhere -- not just those of special needs kids -- get caught up in the day-to-day affairs of their children, and it's very easy to lose sight and lose perspective of the world at large.  This is, of course, a significant contributing factor to the adversarial confrontations between childless couples and those who are parents, or stay-at-home mothers versus working mothers.

Perspective is lost, and both sides demand acknowledgement and attention.

Nonetheless, when we do get lost and caught up in the daily affairs of Henry and of Lori's pregnancy, we forget that the rest of the world is still merrily chugging along.  And in a way, we do miss it.  We look upon certain aspects of the past wistfully.

So when we receive the occasional buzz from friends who want to schedule time for us to enjoy adult company with advance notice, we're reminded that we do need the adult contact.  And it's greatly appreciated that they remember to fish us out of the proverbial lake of daily child care, because we certainly didn't.  And it didn't cross our minds to give them a buzz when we have some down-time.

And really, we do actually have down time.  All that talk of parents not being able to relax for the next 18-20 or more years is exaggeration.  After all, Henry's napping right now and what am I doing?  I'm writing a blog post!  I could be out running.  I could be playing the guitar.  I could be lifting some weights.  I could be drinking a beer.  I could be doing some more homework.

Down time exists, although perhaps not all at once or in a single large chunk.

But I digress.

Hanging out with other parents outside of the presence of our children has its benefits in that we are kindred spirits of sorts.  Even more so if the other parents have children close to the same age as ours, so we're all growing and learning as parents together, rather than being made to feel like we're behind the curve when conversing with parents of older children who've already grown past these stages and their contributions to the conversation are nothing more than jaded warnings, rather than celebration the wonders and discovery.

(as an aside, why do parents who have older children feel the need to do this?  It's vaguely insulting at best and outright rude at worst, as if what we're experiencing now as parents of a toddler is meaningless or insignificant compared to the haaaaarrrd worrrrk and trraaaagedeeeee of raising a teenager, or that we have NOOOOO idea....  Just because it's been several years past already doesn't give these parents the right to take away the joys and wonders that we're experiencing for the first time, and would like the chance to relish, as they already did.  It's condescending, and almost seems like a selfish need to turn the attention back onto themselves)

But it's also refreshing to spend time with other adults in a purely adult setting.  No talk of kids, schools, or pediatrics.  F-bombs are dropped with impunity.  Topics of running off for a weekender on a whim are rehashed.

This is also why I enjoy the company of teachers during the summer or even after the school day when the kids have gone home.  It's refreshing to be able to see my colleagues as regular, hard working adults.  Few things are as heart-warming as seeing the young, bubbly, blonde third grade teacher drop her shoulders, lose the plastic smile, and start swearing like a truck driver.

We all need some kind of balance and outlet.  It's very easy to forget when caught up in the day to day grind, whether kids are involved or not.

Trapped

What does one do when one is trapped in a prison from which there is no escape?   When that prison is one's own body?  And what does one do when observing from the outside, seeing one's own child as that prisoner, with a body that won't cooperate?

What I've been seeing with Henry is a mind that wants so very badly to explore his world and do things.  But that mind is inside a body that is increasing in strength and coordination so agonizingly slowly.  It's frustrating for me because I want him to experience the freedom of jumping, running, and exploring on his own and it must be frustrating for him because he sees what he wants just out of reach and it's hard to get there.

With what I know of the concept of low muscle tone with regard to childhood development as well as the principles of strength from my own weight-lifting endeavors, muscular strength and coordination isn't just about physical force.  The central nervous system plays a very large role in the effect of physical strength; sending the right signals to the muscles has as much of a role in strength as the mass of the muscle itself, if not more.

This is why I may not be a large, muscular person, but can lift heavy objects that might otherwise seem out of the boundaries for an average guy my size.  Why I can out-lift some of the guys at the gym who are physically larger than me.  My nervous system fires more efficiently, and I also use leverage to my advantage.  It's why I can lift a 250 pound friend off of the ground, as long as I use leverage and center of gravity in combination with brute strength.

Henry's lack of physical strength obviously isn't because he's not benching enough or doing enough deadlifts.  It's part of the effects of delayed neurological development.  But we can see that he desperately wants to stand, walk, crawl, and climb.  He had wanted to crawl from about the same time as "normal" kids begin crawling.  His form was that of "swimming" on a solid surface -- he instinctively knew what to do, but lacked the strength to actually place his limbs underneath himself to push himself along.

Months later, with consistent practice and placing him in that position, he's effectively army-crawling everywhere now.  And he's beginning to show signs of spatial relationships, figuring out that if the things he wants are up high, he need to reach up to a nearby surface and haul himself up higher to reach them.

And that takes strength and balance that he doesn't have yet.

He's also beginning to show signs of trying to climb up onto the couch, but hasn't quite figured out how to get a foothold on the space between the couch and the cushions.  He's slowly getting there, though, although it's tough to reconcile some feelings of envy on occasion when seeing other kids his age who are already flying all over the place on their own power and have been for months.

I know it's not fair to anyone to compare, and also inappropriate to do so.  Special-needs kids are even more individual and unique because nobody can predict what their needs actually are, and how to provide them.  It's all an improvisational game that needs constant course corrections outside of the "standard rules of engagement."

So while I continue to coach and train the boy on his own merits, and celebrate his accomplishments with as much pomp and circumstance as I have in me, I do have occasion to look wistfully at times at other parents and kids who aren't seemingly experiencing delays and difficulties.  At least, not apparently on the surface anyway.  Those moments are fleeting, though, because a brief little babble or giggle or a look of abject fascination crosses that kid's face and snaps me out of that "what if" world and back into his.

And I remember that this isn't a trap.  It's a maze.  We just need to figure out the path.

Road Rage Bubbling

I'm traditionally an aggressive driver.  I like to get to where I'm going efficiently and expediently.  I get very annoyed when other drivers who don't remember the rules of the road impede my progress.

(as an aside, why is it that drivers who are older and therefore have been driving longer than I typically seem to be the ones who've forgotten the rules?)

In contrast, I will also acknowledge etiquette on the road.  If a driver signals to be let in to a lane, I will back off.  All I ask is the traditional hand-wave in return.

With that being said, there were two instances this week where -- had Henry not been in the car with me -- I may have proverbially dropped the gloves and engaged in some road wars.  The first was in a lane merge, and the other was a lane change on the highway.

In the first, the right lane ends.  Everyone who drives that stretch during rush hour traffic knows that.  And by the body language of the Chevy truck that I passed, he knew it, too.  He just didn't care.  He was going to get in front of everyone.  I skipped past him and closed the space between the car in front of me and myself, while he sped up to keep pace with me.

The body language indicated that he as going to merge right then or run me off the road (by that, I mean "into the lane to my left, other cars be damned").  As everyone in the lane was playing the same game, Red Truck With the Metal Toolbox was boxed out and left about two car lengths behind me, but not before he had opportunity to angrily slam on his horn and flash his highbeams at me.

As we all went about our chosen lanes, I pulled into the right-turn lane and saw him aggressively zoom up behind me and slam his brakes, an angry Chevy logo looming in my rear-view mirror.  I turned and got into the subsequent left-turn lane.  I saw him cut across traffic, turn left into a parking lot to bypass the traffic signal and a defiant middle finger flashed in my direction.  I watched him speed down a residential street, fuming.

The second was nearing a highway junction.  I saw my opening and merged.  The Dodge Ram thought I cut it too close, and expressed his displeasure with highbeams.  Fine.  So I screwed that up.  However, there was a large construction flatbed truck so I pulled back into the lane to the left....just as Dodge Ram was doing the same thing, and therefore cutting him off a second time.  Again, more highbeams.

Now he was mad.  After all, I should have read his mind despite the lack of his turn signals, and the presence of mine.

When I got back into my lane after passing the flatbed truck, I saw out of my peripheral the Ram approach on my left.  He was also edging very close to my door, which meant that he was planning to cut me off.

I think he watches too much NASCAR.

Thus, body language prepared me for his next move, which was indeed to cut me off at what appeared to be a hair's breadth between his back bumper and my left fender.  He tapped his brakes as a fear/intimidation attempt but I was also ready for that and already slowed to increase distance (and I was getting off of M-59 and onto I-75 at that point anyway).  Hillbilly Ram Boy was continuing on M-59, probably swearing to himself.

Had I not had Henry in the car, I may have given in to the self-righteousness and engaged.  Or at the very least, given it some more serious thought.  But that constant presence of a happily babbling kid in the seat behind me kept me in check and kept my perspective.

In that respect, I won.

I Have But Two Faces

"One for the world,
One for God, save me.
I cannot cry for the shoulder cries more..."

(and I cut the lyrics off there because the context falls off the cliff at that point)

These are part of the chorus of "The Poet and the Pendulum" by Finnish symphonic metal band Nightwish. The song itself doesn't really apply to this entry, but I wanted to shoehorn this specific snippet into this post, how we put forth two appearances, depending on the situation.

And how one of those appearances just gets exhausting after a time to maintain, but we must.

Henry is, of course, over a year old at this point.  As such, there are certain expectations for a kid of that age, in terms of physical, social, emotional, and mental development.  But with Fragile X or autism or any other developmental disability, the so-called "regular time-tables" have to be thrown out, and improvisation becomes the name of the game.

And with that said, it sometimes becomes difficult to put up the plastic smiles in response to the myriad of "is he crawling?  Is he walking?  Is he talking?"  A few months ago, it might have been "typical" to say "no," and expect that it's just a delay of "each kid is different."  But at some point, certain milestones come and go, and with no visible progress, others grow concerned.

Well, this is something that we already know.  We know that Henry's delayed, and as such, we've already taken steps to get the help that both he and we will need.  But to explain that to others who aren't as intimately familiar with the situation can get tiring.

On the one hand, we want to explain why Henry isn't quite at expected milestones but on the other, we also know that it might be a bit much information to digest at any given time if one isn't prepared for it.  And in a casual, social situation, one is not quite at a sitting-down-on-the-couch-with-a-look-of-genuine-concern moment.

So we play off those questions with a "yeah, he's doing fine" or "yep, not yet, but he'll get there," all the while wondering when our resolve will crack and the facade crumbles.

We know to celebrate and encourage every milestone he does achieve, no matter how seemingly insignificant.  For example, his crawling is starting to get more defined now, as he's gradually alternating his legs rather than exclusively scooting across the floor like a baby sea turtle struggling to reach the ocean.  But his upper body strength isn't quite up to the task yet.

It's hard to avoid comparing to his classmates, who are already walking and have been for months now, by this point in their development.

So we have these two faces.  One to show the world that everything is peachy-keen and totally under control, and the other we hold for ourselves when we have the luxury of letting loose our frustrations and confusion, processes that I know intellectually are natural and necessary....but still hard to reconcile nonetheless.

Portent of the Future

RiptApparel.com is on my daily Web site tour, to see what goofy/cool t-shirts they may have on any particular day.  They sell the images on multiple products in addition to t-shirts and provide templates of models to see what the designs look like on real people.  I inadvertently scrolled over the toddler size and saw this:

I just about fell over in my chair.

More Milestones

Today marked another set of triumphs.  However brief, however tiny in a universal sense, they are monumental in our case.

As I sat on the couch, watching Henry play on the floor, I saw him patting his cheek while playing with his Leapfrog activity table.  Nothing new; he absently does that often whether to himself or to my face or hands.

But this time was different.  Allow me to preface one thing, however.

Henry and I have a little game of sorts.  It started early but whenever he is vocalizing with his mouth open, I'll pat his mouth with my hand to make that stereotype-Indian "ababababababa" sound.  At first, when he was really young and had no idea what anything was, he was confused and displeased by what I was doing.  But it was a funny noise so I kept doing it for my own amusement.

But as he gained more awareness of the world, and he grew amused by sounds, he started enjoying it because of the funny noise.  It has gotten to the point where he'll either draw my hand to his mouth himself so he can make the noise, or if I just start patting his lips, he'll vocalize:

Back to present day.

He started patting his own mouth.  I immediately started doing the same thing, patting my mouth and making the noise so that I was making the "abababababa" sound in the hopes of encouraging him to do it again and to correlate the hand-on-mouth-while-making-a-noise = funny noise.

He repeated it!

Three times!  This wasn't coincidence.  This was deliberate.

The other accomplishment is that he's slowly gaining strength and coordination to pull himself up on his own.  I had him standing while my arms encircled him but not making contact, to ensure that he'd stand on his own power while still having the safety net of not landing face first on the carpet.

He lost his balance and tumbled onto my lap and over my arm, but then he made the effort to right himself back up vertically.  It wasn't pretty, and he wasn't 100% successful, but he made the effort to stand by grabbing my hands and my arms and giving it everything he had to haul himself up.

This tells me that his mind is acknowledging what needs to be done, but his body hasn't quite caught up to his brain yet.

This is a good sign, and something we need to keep practicing.

The Epiphany

I'm going to leave my Facebook cover photo up for a little bit longer, even after today, because while a bunch of you know what's going on, I know that many, many others don't (and no fault being placed; it's a matter of who we've chosen to tell and such).

Both of our kids are diagnosed as having full-mutation Fragile X Syndrome.  Little Girl, the unborn one, we found out first.  I just got verbal confirmation today for Henry, although we already knew in the back of our minds.

While correlation does not always equal causation and vice-versa, the simplest way to explain it is that FXS is the leading GENETIC cause of autism-like characteristics or autism itself (and of course, not all autism has a genetic root).  And like with autism being a spectrum disorder, there is no way to predict where on the FXS spectrum the kids will be -- both Henry and Little Girl could exhibit little to no signs of disability or could require a lot of assistance or somewhere in between.  We just don't know and can't predict.

The point is that we and the kids are going to have a tough road ahead of us.  We will get through it, because I'm going to fight like hell for these kids.  This is why I'm also leaving my profile pic from Warrior Dash up to go along with the cover photo.

I am too metal to let this go down without a fight.

But I'm writing all of this not to beg for sympathy or other social media sanctimonious melodrama, but as edification.  By speaking it out loud, I acknowledge its existence, determine a preliminary plan of action, and prevent myself from hiding in denial.

It's out there now.  I can't pretend that it doesn't exist, which would ultimately do the kids a disservice.

And if Henry is this cute now and I am utterly disarmed by the boy, then I can't imagine how my spirit will melt once Little Girl and I make eye contact.

And then the both of them in alliance against me....oh, take the lighter, the blowtorch, the saws-all, and the car keys now.  You win.  No, in fact, I'll just GO to Home Depot and BUY a saws-all since we don't already have one.  I lose.  I get it.

No, I write this for myself.  I can't backtrack now.  I owe the kids this much if not more.

Confirmation

It's been suspected, of course, because Henry's development and all the surrounding aspects couldn't indicate anything else.  But I just got off the phone with the genetic counselor we spoke with a few weeks ago, and she confirmed for us that Henry has FXS.

I'm not entirely certain how I feel about this.  On the one hand, we knew that he's got Fragile X.  But on the other, it didn't stop that initial feeling in my sternum, a bit of a burning sensation, when I heard the confirmation first-hand.  I guess it put more reality into the situation even if I already knew it.

I Can Haz Closure?

It's been over 4 weeks now since Henry got his blood drawn to test conclusively for Fragile X and we still haven't heard anything, despite the "10-14 days."  It's rather irritating and exhausting having to fight with reluctant health systems to get any answers or reasonable appointment dates.

Crawling!

Since one of the symptoms of Fragile X kids is delayed development, one of the common observations I've noticed among other parents is the joy in celebrating the achievement of those milestones when they finally do come, even if those achievements are months to years behind their peers.

When Henry sailed past the "typical" milestone of crawling by a certain age without any sign of interest or ability, we became concerned, and the reassurances of "kids develop at their own pace" became more and more hollow.  This was exacerbated by watching the other kids in Henry's daycare class, kids who are nearly the same age as him and seeing how they're moving around on their own power.

One is two months older and by the time the school year ended, he was nearly walking.  Another is one month older, and she's hauling herself up onto her feet, though her walking was still shaky and unsteady.  Before the 4th of July week break, Henry was still content to lay on the floor.

But over this past week, he started showing some physical ability and cognition in the mechanics of crawling.  His usual routine was, when on his stomach, he would flail all of his limbs, as if in a swimming motion.  I suspect that this was his attempt at crawling, but he lacked the strength and mechanics to put his limbs underneath him for locomotion.  Within the last few days, however, he began shifting his hips and using whatever he could of his legs and feet to push himself forward.

He still seems to lack the strength and coordination in his arms, but I can see that it's coming along slowly.  He's holding himself up off the floor with his arms extended occasionally now instead of leaning on his elbows.  I know his core is strong based on how he's able to "fly" when I hold him up horizontally.

Strength is more than just the physical mass of muscle tissue.  Strength also comes from a neurological source, in how the brain sends signals to the muscles to contract.  This is among the reasons why a smaller, skinnier person may seem to be as strong or stronger than a large bodybuilder or athlete (and are typically called "wiry").  The more efficiently the brain can communicate with the muscle fibers, the more they can do, in a very simplistic illustration.

This concerned me when discovering the neurological effects of Fragile X and how it relates to low muscle tone.  If it's not just a matter of physical underdevelopment but a neurological issue, then developing strength becomes more difficult.  It's not just as simple as increased weight-lifting or other strength-training exercises.  It becomes a mental exercise...and how does one train a person in mental exercises when that person is not yet consciously communicating?

But to see Henry lifting his butt and scooting over as best as he could to his toys on the floor was a joy to witness.

Little Milestones

While we await the official test results from Henry's blood test from about a week and a half ago, I noted with extreme joy yesterday and today when Henry seemed to accomplish something that comes normally to "average" kids much earlier.

Yesterday, when I stopped by my office to pick up the Asus Nexus 7 tablet that work had ordered for me (and was delivered late, late, late Friday so I missed the UPS guy), Henry exhibited the first instance of stranger anxiety, when one of my coworkers came up to say "hi."  It wasn't a coincidence because about 5 minutes later when we were out front by the secretary's desk, Henry started whining again when he saw the same coworker.  Although I quickly distracted him by flipping him upside down a few times, I noted the significance of this, despite feeling bad for my coworker who made my son cry.

The second thing occurred this morning.  While I sat next to his crib as he quietly played, he rolled onto his front and reached up with one hand to the top of the rail.  I saw his arm tense, as if he was just trying to figure out how to pull himself up.  It only lasted a millisecond and he went back to what he was doing before that, but that was another significant moment in development that I was overjoyed to see.

UPDATE: Forgot to add that, this morning, while I was rubbing his back, he was drawing up his legs into a frog-like position and then kicking back, as if trying to propel himself forward. He hasn't crawled yet, so if this was an indicator, it was nice to see as well.  Most of the time, he lays flat on his stomach and thrashes his limbs around like he's swimming. I've surmised that this is his attempt to crawl, but his low muscle tone means that his nerves aren't firing his muscles the way they need to coordinate that movement.

1st Birthday

On a lighter note, we celebrated Henry's 1st birthday this weekend.  Nothing over the top -- he's only 1, for crying out loud! -- but a nice day nonetheless.  After his afternoon nap and the torrential downpour that came through, we filled up his kiddie pool to let him splash around for a while.

I took a few pictures with my fancy camera, but the focus was a bit off.  Going from a cool, air-conditioned house to hot-and-humid outside made the lenses fog up.  And since I'd just woken from a nap myself, my eyes were still a bit foggy since I fell asleep wearing my contact lenses.  But I got a few cute shots of Henry in the pool, this one being my favorite:

We took him inside and gave him a bath (so more splashing, but this time with warm water) and got him dressed for cake (and in hindsight, I shouldn't have chosen a long-sleeved t-shirt).

 

 

 He got a second bath that night.

Waiting

Last Wednesday, we took Henry in to meet with a geneticist to discuss his development, progress, and evaluate the necessity for a blood test.  They attempted to draw blood from him, but his veins weren't cooperating so they ended up sticking him twice to no avail, all while he's screaming and looking up at Lori with that look of "why can't you make this stop?"

It was heartbreaking.

The nurse came back with an order to make an appointment for the next day or two to try again.  We got him calmed down and packed up, and headed back to the front desk.  That was when the fun of misaligned communication & training in the medical administration field reared its face.

I handed the draw order to the person at the desk, assuming that she would be able to read the order and understand that we need an appointment to come back.  We were immediately met with a "we don't make appointments here.  You have to call this number and they'll schedule it."

I politely argued that the nurse in the back personally stated that we were to come back up front to make arrangements for "The Nurse" to do the blood draw.  The woman with whom I was speaking even turned to her colleague to ask what she should do, and her colleague even confirmed that I needed to possibly go downtown for additional procedures, and that because the doctor had gone to lunch, they couldn't confirm the order right away.

I nearly snapped, and Lori saw the tension in me reach stratospheric levels.  I again reiterated that the nurse who tried to draw Henry's blood specifically said we needed to make this appointment that day so that I could come back to that facility.  The woman said she would go talk to her.

5 minutes later, she returned and wordlessly began typing at her terminal.  We got an appointment for the next day at 3:20pm.  I curtly thanked them and we left.

That was when Lori mentioned that my tolerance limit for miscommunications was at an end, despite my traditionally superhuman levels of patience.

I returned the next day with Henry, determined to put the previous day behind me and be more pleasant.  This experience went much more smoothly as the pediatric nurse was able to draw Henry's blood much more easily.  Sure, he screamed, but it subsided rather quickly after we were done.

So his samples are off to testing, and we wait another week or so to confirm that he has Fragile X.  At this rate, I can't realistically or logically believe it's anything else, especially after speaking with the geneticist and the genetic counselor.

One Step Closer

We met with the assessment folks at the county's intermediate school district for an evaluation on Henry.  After two hours of assessment, evaluation, questions, and observations, the result was that Henry -- at 12 months old chronologically -- is at about a 9-month level for motor skills and 2-4 months for social/behavioral.

This essentially means that my one-year-old son is approximately at the same developmental level as a 2-4 month old infant, which explains why he's calmed down more readily by cradling and rocking as well as a lack of mimicry, self-initiated communication, and reciprocal play.

That's a hard pill to swallow.

But we were concerned enough as parents to get him checked out.  It wasn't good news, but it's better than just hanging back in denial and hoping that he "gets better" on his own, and letting this persist for more time.  Time that could be better spent getting him the help that we all need to get him up to speed.

Sanctimonious Rage Parent

Ever since we discovered we were pregnant, we made a pact not to become those sanctimonious "the world should bend for our precious" type of parents.  They're annoying, and we wanted to be anything but annoying.

If our kids have a meltdown in a restaurant, that's our fault, not the restaurant's and the other patrons shouldn't have to suffer because we're either too oblivious to our kids' screaming, or we haughtily expect everyone else to bask in the glory of our children.

But despite that, I had a Sanctimonious Rage Parent moment this weekend.  I recognized it right after it happened, and I felt a little bad, although I at least restrained myself not to have a meltdown myself.

Since Henry's surgery on Wednesday, he hasn't been able to burn off his usual excess energy by jumping and bouncing, so he's been rather anxious and antsy.  Also, weekends tend to be pretty bad for me, food-wise, because the distractions at home render it difficult to get my usual 5-7 meals in.  So on Sunday, my first meal was around 10:00am and that was a BLT.

(on normal days, I'd have already had two meals by that time and looking for my third)

So we went to a local outdoor mall, both to get Henry some distraction and fresh air, and a small snack for me.  After wandering the loop twice, we headed to California Pizza Kitchen, which had patio seating.  Maybe a small pizza and a beer would be good and not too filling so I can still have dinner.

This CPK has a revolving door, which is of course terrible for anyone who isn't bipedal.  The sign on the regular door read "Please Use Revolving Door."  I ignored it and just opened the stupid door to push Henry's stroller through.  We asked if we could sit outside, and the host boy said that we could leave the stroller behind the host stand.  Given that Henry had been tending to get bored and anxious when sitting in a restaurant highchair lately, we asked that we keep him in his stroller for sake of familiarity for him.

Then the kid said that they don't allow strollers onto the patio.

Lori picked up on my flash of rage, although I kept calm on the exterior.  Disappointed, I said "oh.  Okay, never mind then," and we turned around and left.

As we were walking out to the car, that was when I came to this realization that I had just had my first Sanctimonious Rage Parent moment.  I get that it's not the host kid's fault, and I get that it's probably a safety issue not to allow strollers into the main restaurant.  But that intellectual approach didn't stop my kneejerk reaction of being offended.

And I knew I had no right to be offended; again, safety issues and the world does not revolve around Henry or us.

How Do You Say "Fragile X" in Japanese?

Or any foreign language, for that matter?

I am 100% Japanese by heritage.  My parents immigrated to the US in the '70s and then I came along almost immediately thereafter.  They tried very hard to speak only Japanese to me as I grew up so I actually knew no English on my first day of school.  In fact, my cousins in Japan who learned English in school knew more English than I did, the kid who lived in America and was born there.

Last fall, we moved my mother in with us after she had retired and her house started falling apart.  That turned out to be a boon for the family because not only did I feel better know that my technically-senior-citizen mother wasn't living alone 45 minutes away, but she now gets unfettered access to her grandson and occasionally, we get a de facto babysitter.

It also means that I got to rebuild my Japanese vocabulary, which had gotten rusty over the years.  But that also means that medical terms that affect the kids -- her grandchildren -- have to be either translated or at the very least explained in a different language.

Now, my mother isn't completely helpless with the English language.  Before she retired, she worked for well over 25 years for an international commodity brokerage firm, so her English -- while heavily accented and somewhat broken -- is perfectly serviceable.  But medical or scientific concepts were certainly not part of her usual lexicon, and while she understands medical terminology if they're presented in Japanese, the disconnect occurs when medical terms are stated in English without knowing what the Japanese equivalent is.

She understands what "autism" is, even when said in English.  But rarer or less popular conditions like Fragile X is a bit more of a mindnumber.

Since she's a part of the family, since these are her grandkids that we're talking about, since she lives in our home, my mom has been paying close attention to what we'd need to expect with the kids and also digging for more information.  I love my mother -- she takes charge just enough to contribute to the child-rearing without interfering, acknowledging that despite her own years of experiencing raising me and my sister, Lori and I are still Henry's parents and the parents of our new baby to come.  I suspect that this level of deference isn't common, especially among multi-generational households.

Nonetheless, when we went for the tests, we had to tell my mom something, so I tried my best to explain what was going on, despite not knowing the exact terms.  And as we were talking tonight in the living room, we talked about what Fragile X is, and the fact that statistically, there's no way that Fragile X is a new thing (newly discovered, perhaps, but there's no way that it hasn't been around for decades before its discovery).

So I started searching for Fragile X in Japanese, and while I couldn't find any direct translation, I did stumble across some abstracts of scholarly articles written about studies on Fragile X conducted by Japanese universities.....from the late '80s.

That makes me wonder, therefore, a few things.  First, was 1991 really the first year of discovery of FMR1?  And second, if Japanese researchers knew about FX, what does that mean for the usual homogeneous society of Japan, where congenital disabilities of any kind tend to be culturally shunned, and the kids who do have Fragile X, Down Syndrome, or other hereditary conditions?

Since I'm unable -- yet -- to find a neat and tidy term that translates Fragile X from English to Japanese, that got me to wondering how medical conditions are translated into other languages.

On Wednesday, when we were at the hospital for Henry's surgical procedure, there was a Latino family, who was apparently getting some either bad or potentially bad news from the surgeon, who was explaining everything in Spanish.  I understand just enough Spanish to get by, but not at conversational speeds, and certainly not in a situation where I'd have to rudely eavesdrop.  Nonetheless, we surmised that it was unhappy news, because after the doctor left the waiting room, the mother started sobbing.  Lori even went over to give her the box of tissues.  It was heartbreaking because regardless of language or culture, no parent wants to get bad news from the surgeon regarding their baby's procedure.

Medical conditions are universal, but speaking between languages about uncommon concepts is tough.  So now, with my mother wanting to know what's going with her grandkids so that she can help out in appropriate ways, we have to figure out how to translate the needs of the kids from English to Japanese and vice versa.

Thus, I wonder how medical concepts do get translated from one language to another.  Are there Fragile X support groups and societies in Japan?  French Canada?  Belgium?  Italy?  And what is it called there?

A Non-FX-related Day

In the on-going saga of Nothing About These Pregnancies Went Right Theater, we took Henry in for his circumcision procedure today.  The procedure itself went well, and he's now upstairs in his crib, falling slowly asleep while playing with his stuffed monkey and watching his "TV" -- an electronic mobile of fish.

So why now, at 11 months old?  Again, another chapter in the "Nothing Went Right" novel.

When he was born, the delivering OB was leery to the point of adamant refusal to perform the circumcision because she noticed that he had an odd twist to his equipment.  A day or two later, the resident urologist came to check him out and noted that Henry had chordee but that it wasn't a severe case and that they could have done the circ.

Unfortunately, in this age of hypersensitive liability fear and medical malpractice suits, nobody wanted to touch the boy.  And since we were past the window of opportunity, by the time anyone was able to confidently state that Henry was not a mutant, we had to wait until he was 6 months old to perform the circ, because by then, they'd have had to put him under general anesthesia.

So from December to now, it has become nothing but a tragedy of errors.  After our initial consult with a non-terrified urologist, we scheduled his procedure for early March.  Then Henry got sick a week before, so we had to reschedule to April.

Then, three weeks before the rescheduled procedure, we got a call from the urology office that they needed to schedule a new consultation because the doctor who was going to perform the operation decided that he was going to leave the practice and move to Florida.

So then we had to meet with a new doctor and go through the same evaluation again (and pay for it again).  This time, the procedure was scheduled for early May.

And Henry got sick again a week before the operation date.  Reschedule for the third time.

Finally, this week arrived.  And wouldn't you know it, he started getting the sniffles last night.  I was about at the end of my rope.

We toughed it out overnight and at this point, I decided that if the doctor and the hospital wanted to reject us because Henry was sniffling, I'd make it their responsibility.  I'm not canceling anymore.  Luckily, Henry's sinuses cleared up enough after he woke up this morning to go through with it all. 

Six hours later, we got home.  He's whacked out on the out-of-order schedule plus the sensory WTFing, so an hour and a half before his normal bedtime, he's in his crib with eyes heavy despite playing with his monkey.

One headache down and done.

The First Meeting

Yesterday, we went downtown after a comedy of errors that took us to the suburban location of the hospital system.  We met with the genetic counselor and the prenatal diagnosis doctor to talk about the results of Little Girl's test results, as I'd mentioned in yesterday's post.

For more details, the results did confirm that she is >200 in CGG repeats.  We had to sit through the genetic counselor's introductory lecture on reproductive genetics and what amounted to basic high school Punnet Square lessons.  As a genetic counselor, she's trained to be very nice, soft-spoken, and supportive, so I had to at least give her the benefit of the doubt as I'm sure she encounters many families who don't remember their high school biology (and I'm sure younger than I).

(I do remember quite vividly that cytosine and guanine pair, and adenine and thymine pair; the mnemonic device I used to remember that is in the shape of the letters.  C and G are round, A and T have straight lines)

But the basic lessons were a bit insulting, I have to admit.  As was the review of the effects of Fragile X, as if Lori and I hadn't been spending nearly all of our waking hours for the past 3 weeks poring over every Fragile X resource we can find to learn all we can about this condition.

I wanted to know whether the specific number of repeats correlated to the observed severity of symptoms in a child.  That resulted in a two-part question: is the test that was performed after the CVS capable of detecting the actual number of repeats or does it just stop after the 200 threshold is reached?  And second, does the correlation exist between frequency of repeats and the severity of impairments?

The counselor was unable to answer those questions directly, though she did try her best with a bunch of industry double-speak and vagueries.  The short version of her answer, though, was "the Southern Blot test can pinpoint the specific frequency of CGG repeats," and "nobody knows."

In my programmer/analyst mind, I can accept a vague answer.  Not every problem can have a clearly defined solution, especially not right away.  And considering that Fragile X was essentially only discovered just over 20 years ago, it's still comparatively a new "disease" or condition.

Although I hate to call it a "disease" because that would imply that Fragile X can be "caught," like an infection.

But as a parent, that uncertainty displeases me.  I know we're in for a long road, but not knowing what any of that looks like just doesn't sit well.  And double that with helplessly watching my wife being crushed by her own sense of guilt and despair and not know what to do for her -- my heart & soul -- and it's a wonder that I can write any of this with clarity and forethought.

If I let my emotions take over, I suppose this post would look more like "SAUO'WZS9USV-0Ue-0u
aeyr-u2[[efvA9BP'A;BABRY9;094UYBA90!!!!!!!!"

(this is probably why CTRL+ALT+DEL is a very specific key combination)

Finally, the counselor also had to bring up "managing the pregnancy," a gentle little euphemism for abortion.  She brought it up as a legal requirement since 24 weeks is the limit.  For us, that's not an option.  The inability of the medical establishment to clearly define whether Little Girl is going to be a helpless vegetable with nary a brain stem and heart or a perfectly fine baby with maybe some difficulties comprehending math in a linear fashion is not enough to justify or warrant termination.

My stomach just churns at the thought.

We're a pro-choice family, but lest I inadvertently turn this into a political affair, my support of choice does not mean that I automatically choose to terminate.  We are merely exercising our freedom of choice and choosing to have this baby.  We know it's going to be hard, and the uncertainty of the future is scary.  But I believe we're strong enough, even if Lori doesn't feel that she is.

For all I know, the universe may have chosen us to have one or maybe two kids with FX because we can potentially be more advocates for the condition, like some of our friends who have autistic children.

What the Hell Just Happened?

Although it had been in the back of our minds, my wife and I didn't think nearly as much about the possibility of our children being afflicted with Fragile X Syndrome as just having kids at all. Through various trials and tribulations, we finally got pregnant in late 2011 with our son, Henry.

He was born in June of 2012 and has been a whirlwind of awesomeness since then. Given our age, we realized that if we were going to have any more children, we needed to get on it soon, and so in early 2013, we found that we were pregnant with our daughter-to-be.

Great! A matched set! The first ultrasound gave us devastation, however: a 4mm-thick nuchal translucency.  That was a heavy indication for Down Syndrome. Over the following weeks, we saw specialists after specialists, mid-day appointments after early morning appoints, before evening appointments.

In the end, the nuchal translucency had actually disappeared and the blood tests for Trisomy 13, 18, and 21 all came back negative.  But we weren't out of the woods yet, of course.  We needed to test for Fragile X because of my wife's family history, and because Henry, at this point now about 10 months old, was exhibiting some significantly observable developmental delays that could correlate to Fragile X symptoms.

The test for my wife came back with pre-mutation positive.  The test for the new baby came back full-mutation positive (my test for FX carrier status came back normal).  More tears and despair.

But given the awesomeness that is Henry, we just have to buckle down and be strong.  There's always a chance that she may not be affected, and even if she is, who knows what life has in store?