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?