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.