Confirmation, Maybe?

A while after we got the official diagnosis for Henry's FXS, and we had to explain not just his behaviors, but delays in progress to the layperson, I started harboring thoughts in the back of my mind that I sometimes wished that Henry would just be officially diagnosed with autism, just so I could stop having to explain what FXS is, how it works, and what it means.

We had a consultation with a neurologist to look into Henry's sleep patterns, and while I won't get into the utterly ridiculous suggestions this doctor had to "resolve" Henry's sleep issues, part of the paperwork involved exactly what I wrote above in the first paragraph.

A review/examination to determine if Henry is on the ASD spectrum.

I think it's a foregone conclusion, actually.  Since ASD is such a broad-ranging condition, no one person with ASD can be effectively compared to anyone else with ASD and expect to see similar results.  Henry doesn't necessarily exhibit the "typical" characteristics of an autistic person, but that's because there's really nothing "typical" about autism.

What a lot of people may think when they hear "autistic" is Dustin Hoffman's Rainman.  That's not a typical representation.  Not every person with autism looks forward to fish sticks and Judge Wapner.

We hear qualifiers like "high functioning."  That's pretty much a rationalization to say that a person with autism isn't nearly as Rainman-like, which may make those who are unfamiliar with this world a bit uncomfortable.  It's a way to reason a degree of "normal" when such "normal" is not an option.  It's how to determine how close to "normal" the person with autism is, so that it's not as uncomfortable to deal with.

To note: this is not meant as a criticism; I understand that the world of special-needs kids and adults can be rather scary to the general public, because it's a world of unfamiliarity.  As a parallel illustration, while Lori has familiarity with Japanese culture, it was a complete world-turner when we all went to Japan a few years ago and experienced the train station at rush hour.  Even going to the Outback Steakhouse that was down the street from our hotel and sitting at the bar to have a few beers was just slightly different than what we would experience here in the US.

Nevertheless, there is a recommendation to determine officially if Henry is on the spectrum.  This, to me, is a mere formality and confirmation that Henry is indeed autistic.  Of course, that also means that I have to work out how to describe it -- is he autistic, as a characteristic in the vein of being tall or half-Asian?  Does he have autism, akin to having brown hair?

At the end of the day, I think that's something I'll have to work out later.  But for now, it's just one step closer to pretty much having that one word to describe him without having to spend any additional sigh-filled effort in explaining the ins and outs of FXS.

While I do explain FXS whenever I can and at every opportunity, I read my audience and most times, I see that glazing of eyes when the attention is slipping and I'm about to lose them.  Those are the times when I'd wished I could just say "he has autism," and be done with it, because despite the controversies surrounding Autism Speaks, it has at least put autism closer to the forefront of the social consciousness such that people understand that even if they don't know what it means to be autistic, it's at least something they've heard of to understand that when we say our child has autism, or that they see that we're sporting that colored-puzzle-piece merchandise, they understand that we have a long and hard road ahead of us, even if they don't know what it'll be like.

(and that was a hell of a run-on sentence, if I do say so myself)

Point is this: people have heard of autism and as such, can display more sensitivity and tolerance toward our children's behavior.  I don't have to explain what it is, which can get exhausting (and thus making me feel like a terrible FXS advocate as a feedback loop).  I had wished for a DX of autism just so I could stop explaining all that Henry is.

It appears I may be getting this wish.

Of course, just because it's on paper doesn't mean that my son is any different.  The diagnosis doesn't change who he is or what he does.  He's still that same goof who wants to be tickled until he collapses; who tries to walk from the car whenever we got to the store, but starts to get nervous when we enter the store until he feels secure in a cart; who loves Aldi's veggie sticks; who has incredible hand-eye coordination to be able to track a rolling ball no matter how big or small it is.

What it would do, though, is give us an out.  Which was what I'd wished for earlier.  And now that it's becoming a likely reality, I'm having second thoughts.  Doubts.  I don't think I want to let the explanation go with just "he's autistic."

I think he and the FXS community deserve more than just me blowing it off because it's inconvenient for me.

Street Smarts

A short one.

Henry was taken to see a neurologist a while ago in the hopes of figuring out why he's so awful at sleeping, whether it's in going to sleep or staying asleep.  Right now, we dose him with melatonin so that he'll fall asleep within a half-hour; before the melatonin, it was a nightly battle of 1½ to 2 hours to get him settled down enough to fall asleep.

Every.  Night.

The reason: he was just hyper and could not calm down.  We got a suggestion from our FX support group members that a common manifestation for kids with FXS is a non-stop production of cortisol, which puts them physically in a constant fight-or-flight mode.  To combat that, we were given the suggestion of giving him melatonin supplements to counteract the overproduction of cortisol.

The first night we gave it to him was a miracle.  He went to sleep within a half hour, and we haven't looked back since.  A bottle of melatonin liquid is a staple now, and we've come dangerously close to running out a few times.  That meant dropping everything and going to buy more, because, like beer, we shall not run out!

The neurologist was unable to examine him because, well, as anyone who knows Henry knows, he is not comfortable around strangers.  And it's magnified when he's in a medical facility, because as far as he's concerned, only Bad Things have happened at medical facilities.  The neurologist recommended we submit him to a sleep study through Children's Hospital.

Okay, fine.

Tonight was his appointment, and tonight was the night when the inner beast was unleashed.

Since I had class tonight, Lori was to take him in just before bedtime and spend the night in the observation lab.  Henry apparently went Incredible Hulk.  Because what the neurologist failed to tell us was that the study required all kinds of sensors and wires to be stuck on, around, and even in him (up his nose).

Just hearing that, I could tell you that it was not going to happen.  He reacts to hair cuts like we're killing him.  It took all of my strength and dexterity to restrain him for a mere hair cut.  And yes, I had to restrain him.

Unfortunately, Lori took the brunt of Henry's explosion.  Scratches, bites, punches, and even a fistful of hair ripped out.  Lori said that she had never seen an expression of contorted terror on Henry's face like that before, or the kind of back arching and physical contortions he was in to try to get away.

Then the tech offered to try again.

Needless to say, they came home.  I knew something was wrong when I saw Lori's car in the garage when I pulled into the driveway coming home from class.  She had just gotten Henry to sleep -- calmly and in his own bed -- when I came in the house.

So the moral of this story is this.

To all of my friends who are in the medical field and those studying to go into the medical field, please remember your street smarts on top of the book smarts.  Don't treat kids with special needs like a by-the-book numbers game, because unfortunately, we've run into more doctors and nurses ill-equipped to handle special-needs kids than we could have reasonably expected.

I mean, isn't it a thing in one of their classes or something?  If not, shouldn't it be?  Even if it's just a 10-minute Powerpoint titled "Don't Treat Parents of Special Needs Kids Like Morons Who Don't Know What They're Talking About, They Know Their Kid Better Than We Will?"

Slide 1: should you treat your special-needs patient's parents like uneducated fools?
Slide 2: no.

End of presentation

The neurologist was so entrenched in book knowledge that she apparently had no ability to extrapolate or think beyond the procedure.  I get that there are liability issues, but come on.  If the kid wasn't going to let you near him, let alone touch him, why would you think that hooking him up to what amounted to a transmission flush machine would be successful?

In the past, when Henry got another ear infection, we went to an urgent care clinic and I told the attending physician what his Dx was to be, and what needed to be prescribed.  With the way I presented the information to him, he asked if I was a doctor.

No, I'm a parent who is also a troubleshooter by profession so I know how to present the data of a problem in order to seek resolution.  Whether it's a computer or a human body, the technique is the same.  Ask the right questions, think analytically, think critically.

On top of the ENT doctor who got annoyed that Henry was terrified of him, the med-student kids who asked inane and irrelevant questions of us while Henry was coming down with bronchial pneumonia, and the pediatric surgeon who decided to hold class for his med student kids in our room while Henry was trying to sleep, please, please, please remember that your patients are people, not chapters in a book.

And just because you may have seen countless similar cases in the 20, 30, 40 years you've done this, not all cases will have the same outcomes.  Don't get lazy.

Paper Cuts and Lemon Juice

An interesting write-up, how The Princess Bride can equate to parenting a child with developmental disorders such as ASD or, in our case, Fragile X.

I especially have to be mindful of #8:

There’s not a lot of money in revenge

- Inigo Montoya

Don’t spend your life feeling bitter, blaming yourself, hating autism or resenting parents of typically developing kids. It’s a fruitless and costly waste of energy that can be directed into more productive things.

Admittedly, it's difficult to rein in the snap reaction when well-meaning parents of typically developing kids offer us advice.  They can't possibly have any idea of what this is like, or how much it hurts to hear that our kid is actually that far behind, developmentally, because he hasn't achieved the same milestones as his typical peers.

That's what's going through my head, silently hidden behind the plastic smile with gritted teeth, deliberate eye contact, and strenuously controlled rhythmic breathing.

"Yes, I'm sure he will start talking incessantly soon," I say.

"HOW THE HELL WOULD YOU KNOW THAT HE'S JUST ON THE VERGE OF TALKING WHEN HIS SPEECH PATTERNS ARE THAT OF AN 8-MONTH OLD??!!?" screams my brain.

"He's 20 months?  Oh, it's gotta be tiring trying to chase after him, huh?" says the grocery clerk, sweetly.  "He's a handful!" I say cheerfully but vaguely.

"NO IT REALLY ISN'T THAT TIRING BECAUSE HIS BODY IS BETRAYING HIM BY NOT DEVELOPING THE MUSCULATURE HE NEEDS TO BE ABLE TO SURVIVE ON HIS OWN," my spirit cries.

"Oh, he'll be okay soon!  Hahaha," say my conversation partners who are growing uncomfortable because I'm starting to scratch beneath the superficial and meaningless, and want to change the subject quickly.

"WHAT THE HELL IS 'SOON?'  WE CAN'T EVEN BEGIN TOILET TRAINING BECAUSE HE'S NEITHER WALKING NOR COMMUNICATING COHERENTLY.  DON'T TELL ME HE'LL BE 'OKAY.'  YOU.  DON'T.  KNOW," my desperation scolds.

But again, these are the hair-trigger knee-jerk reactions.  Nobody deserves that.  Not the people with whom I'm speaking, not myself, and definitely not the kids.  The kids don't deserve me giving up like this or giving in to the Dark Side of the Force.

Yes, I'll be frustrated a lot, and I may get frustrated because I'm feeling like I'm being shown my own inadequacies by the parents of typically developing kids who proudly and smugly seem to proclaim that they're all Normal.  Or that it does get exhausting trying to read the tone of the conversation and determine that those who are listening are not prepared enough to deal with everything I want to say, but have to keep bottled up.

But unless someone comes as straight-forward as to call my boy a "retard" directly, then they don't deserve my fury.  They're not doing this out of malice or superiority -- that's my own head filling in these gaps and attempting to rationalize a question that I can't answer.

It's unfair.  It's unproductive.  And ultimately, it's a waste of time.  This is not Ultimate Suffering.  This is not the Fire Swamp.  I can't be in the revenge business for so long that I no longer know what to do with my life.

My kids need a father, my wife needs a husband.  Not Batman (well....maybe that's not entirely a bad thing...).

Post-script:  Then I look at these faces and all becomes right with the world:

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.

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.

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.

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.