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.