On a good day, parenting will test the integrity of your character. On a bad day, parenting will test your will to live. Parenting children with trauma histories will cause you to test the integrity of everything and everyone you thought you knew, for the rest of your life.
~J. Skrobisz

Wednesday, January 19, 2011


Today was take-AB-to-appointments day. Next Tuesday is Sissy's day. I've discovered that it's just easier to get a bunch done all in one day. It's a long, stressful day, but it can be fun too.

All teacher-ish of me, I made sure AB had the essential school work he would be missing. We took the girls to school and then went straight home. He asked to have one of his birthday snick.ers bars and I astutely said, "sure ... after you get all this school work done!" He was finished in ONE HOUR!

The candy bar was gone in one bite. lol

Then it was, "mom can we build my lego game now?" He had gotten a L.egos H.ogwarts game for his birthday. You assemble it and then you play! Fun.

a very proud and happy AB working on his project
seriously, he looks so stoic but he was GIDDY!

the box of pieces yet to be assembled

the nearly finished product

The whole time, "mom when are we going? are we going to be late? what time is it, mom? the appointment I mean. mom."

Of course I gave him a precise departure time, ETA and a brief synopsis of the events to occur. Of course, he had to hear those details 10 times.

We finished the project early and he said, "wait. what about lunch?" This from my voracious son that of late, can not be kept full.

"if we hurry and get in the van RIGHT.NOW we'll have time for Mc.Donald's" I'd gotten a little check the day before for being a Melaleuca[1] representative so it paid for lunch, a plan I'd had yesterday when I saw it in the mail. But you can't tell AB something more than 24 hours in advance because what if those plans change? and then BLAMMO, you've got meltdown hell.

"YAY!" he hopped. Skipping off, he was in the van. Correction. Pacing outside the van asking over and over and over as he rocked, "is it locked? is it locked? is it locked?" and of course, I was still getting on my shoes IN.THE.HOUSE. and had no idea he was waiting until he asked the empty driveway 16 times already so that he was HOLLERING at me by the time half of my left hand was visible as I walked through the front door. He was just trying not to set off the van alarm [2].

At "the brace place" as he calls it, we made some minor adjustments to his AFOs for the second time this fitting. This is his sixth pair and the first time we've had this much trouble. That's a pretty good track record for this company but still, I don't like my son to have blistered feet.

Some days we wait F.O.R.E.V.E.R. at the brace place so we came prepared with my backpack full of things to do. When we walked in, it was empty. SCORE! We were done in 30 minutes with four new AFO socks in hand. (The error with the AFOs had caused all of the socks to get holes. NOT COOL as they cost $10 a pair. OYE!)

Skip. Skip. Skip.
Finally, "AB. i don't know. Get in the van."
"YAY!" and he was skipping, then pacing and "is it locked, is it locked, is it locked" then another "YAY!" when I mashed the key fob and the flashing lights indicated it was unlocked which was followed by "wherearewegoingnowmom?" before I was even 10 feet to the van so by the time I opened the driver side door he was hollering at me for not answering his question immediately because DUH. He had me all to himself, why wasn't I listening? 10 feet and a closed van door between us notwithstanding for crying out loud!

geez. you'd think I'd learn by now.

I didn't tell him where we were going. We had time to kill before the geneticist. So I took him to the riverwalk (which in our city doubles as the levee).  But we parked outside an old church that has really old gravestones.  AB found one with a death year of 1755.  AB likes ghosts and such.  So there was ALOT of questions about the dead people and a lot of me sighing and saying, "i don't know, AB" and LOTS of me trying not to let him see me giggling at his questions and when we went to leave?  We waved good bye and wished all the dead people well but not before ...

AB asked the dead people if they wanted his granola bar!

Which isn't the funny part. The funny part was he answered his own question by saying out loud, "oh yeah, right. They're dead a long time. They might not know what a granola bar is." so he called out to them, "It's like a candy bar only it's not!"

I'm not kidding. REALLY hard to not roll on the ground ON.TOP.OF.GRAVES. laughing my a$$ off. There's a new acronym: ROTOGLMAO

Riverwalk photo montage
yeah, only lucky for you, you get the silent version. I'm not kidding, this boy didn't stop talking all.darn.day

You see how far away he is?  Still talking to me.

 talking ...

 STILL talking...


 Yes, yes. talking, talking, talking ... dear God help me, still talking

 My turn to talk - The Dad washes windows way, way up there on the 16th floor
I try not to think about it

We made our way back to the van, back to ANOTHER parking deck and ANOTHER hospital annex building and took an elevator down and one back up and then walked OVER to the building (sigh) and finally made it to the geneticist's office who was running VERY far behind but praise the Lord, they had a movie playing.

I could have kissed someone.

45 minutes after our scheduled appointment time, we got called in for height, weight, skull measurements, etc. Height and weight require that we REMOVE the confounded newly repaired AFOs all while AB talked and touched and wiggled and asked questions because DUH, we were in the doctor's office and they have cool stuff that is strange.

Then carry the AFO's, shoes, socks, backpack and grabbing the boy with the extra appendage I've grown out my a$$ my pinky finger and nudging him with my hip I directed him and all our crap to exam room 45. And I prepared for another LOOOOOOONNNNNNGGGGGGGGG wait because that's how it usually goes only this time the Doctor was talking to us before we even got into room 45.

"F-G" he says.

"really? For REAL this time?" because we've tossed around this diagnosis for a long time but he's never been prepared to put it in the records.

"Yes. I'm putting it in his charts TODAY. You can have whomever needs to, contact this office and get that diagnosis in writing."

He went on to explain his rationale. First of all, if you've done any genetics stuff, you know it takes YEARS to gather enough clinical data to prove something, particularly if the patient is AHEAD of medical science.

Last year AB's microarray came back with THESE results which was awesome in and of itself because he's the first patient in our country EVER to turn up that particular duplication.

But the geneticist said he wasn't as concerned with those duplications as he was about that fact that our current medical science has only ONE lab test for only ONE of the five FG genes. AB was negative for that test.

However, he went on to say, in the last six months, researchers have identified the other four genes. Now we wait the six months to a year for researchers to develop the lab tests to identify those genes in patients and we test AB again to prove the Dx.

Finally, the geneticist says no clinical proof is necessary. The lack of change in AB's developmental delay, the chronic issues he has with IBS and toe walking, all of his facial features in addition to his mannerisms are enough for it to be in his charts.

YIPPEE!!! I thought i would jump up and kiss the doctor! AB was just glad there were no shots today.

Now we hook up with the FG support alliance, dig up resources, assistance, etc. and contact the ONE.AND.ONLY. research lab in our ENTIRE.COUNTRY that is doing FG research (the lab that is an HOUR from here, SQUEEE!!!!) and ask, nay BEG them to let AB be in their research for the four other FG genes.

Once AB gets a positive test for one of the other FG genes (about another two years or so) we test the girls to see if they are carriers. VOILA! Genetics at it's finest.

I drove home happy, picked up pizza for the crew and gluten free pizza fixin's for me and...

Sissy raged for the fourth night in a row.

[1]what? I never told you i was a melaleuca rep? well I am. So ask me about it so I can get Bigger checks so you can learn all about healthier living through chemical free products

[2] you might think that was annoying. NOT SO! What was annoying was that he attempted to get into the van while the alarm was set SO.MANY.TIMES that he actually broke the lock on the sliding door. I got irritated one too many times about this issue which in turn irritated him right back. (oh, it's been a really RIPPING good time, this van door issue he has.)

Now he refuses to get in the van until he has seen the flashing lights that indicate I've turned off the alarm with the key fob. It's gotten so that from 25 feet in an empty parking lot, with my arm raised as high as it will go, I can turn off the alarm so he can skip to the van and get in because did I mention? AB has to be first. The sun will go supernova if we don't let him be first. I shit you not. SUPERNOVA. His meltdowns are that bad.


FosterAbba said...

I am glad you finally have a diagnosis. I hope it will point you in the right direction for appropriate help and interventions for your son.

Robin said...

Awesome! A diagnosis! :) What is FB? Also, I am sure AB has one of these, but does a visual timer help him to not ask so many times if "its time yet? Lol, you're a great mom!!!

Integrity Singer said...

@ robin - there's a link in the post for FG syndrome, it's an x linked chromosomal deficiency first identified in 1974. The man Dustin Hoffman studied so he could be "rain main" had FG syndrome.

AB can't tell time - has no concept of time. a timer is useless beyond "when the timer goes off your Wii time is up" and then when the timer goes off, he either hollers that it wasn't enough time or he gets off the Wii. It's 50/50

if I told him he couldn't ask questions until the timer went off he'd say, "what? huh? that doesnt' make sense" because to him, talking and playing Wii are not in the same category.

cinch said...

Good deal...Hope all works out and things move quickly to get him the services he needs...love that boy!!!!!

Angela :-) said...

It was tough for me to get through your post because I have 2 talkers, one of whom sounds almost on par with AB. No realization that I'm not hearing him, in the middle of another conversation, not near him, etc. Talking.Talking.Talking.Talk.ing. Oh my. He also is hyperanxious about being on time for some things.

Angela :-)

Miz Kizzle said...

Congratulations on AB finally getting his diagnosis. I read a brief description about F-G and it sounds daunting. Does he have a lot of other health issues? How does he do socially? He seems gregarious; are any friends in the picture?
I'm not familiar with your family's story. Are your children biological siblings? Genetics can really throw a monkey wrench into kids' lives (and moms' too.)

Toyin O. said...

Wishing you all the best with your son;nice pictures:)