Sam. Conqueror. Overcomer.

On the 15th May 2009, Samuel Christian made his way into this world...two month's premature and in severe respiratory distress. Within hours, Sam was diagnosed with Rubinstein-Taybi Syndrome - a very rare congenital disorder, of which little was known. The diagnosis together with the immediate challenges Sam faced to thrive became our core focus and it was with joy and thankfulness that we eventually brought Sam home, after nine weeks in the NICU.

As time pressed on, it became obvious that Sam's development was falling behind that of his RTS peers. Shortly before his 5th birthday Sam underwent a brain scan and it was confirmed by a paediatric neurologist that in addition to Rubinstein-Taybi Syndrome, Sam also has Cerebral Palsy related to his premature birth, as well as Autism.

This blog chronicles our journey through these challenges...
Our world has crashed, been blown apart.
This can't be happening....why us? Why now?
Your fragile life shaken before it could barely start,
How do we get through this...please, Lord, tell us how?

Drowning in our sorrow, waiting for answers that just don't come.
Our baby "special needs"? It simply can't be true!
The heartache overwhelms us, we're left feeling cold and numb.
The diagnosis tells us little - these children are so few.

But then we finallyget to touch you, to see your precious face
And all the heartache and questions fade, replaced with love and pride.
It's obvious from the very start you're showered in God's grace,
And with His love and guidance, we'll take this challenge in stride.

When once we couldn't pronounce it, Rubinstein-Taybi's become our norm.
When once the future seemed dark, we now welcome the journey as having an RTS angel brings lessons in unexpected form.

Our world has crashed, been blown apart!
This IS us.....right now!
We've been blessed with a gift, so precious from the very start. How do we get through this? Here's how.....
By believing in a God, so merciful and great,
By trusting that He's right beside us as we journey through the narrow gate.
By believing His love for us is not determined by a human frame,
By trusting that we draw Him near by merely calling His name. This precious baby we asked God for,
Prayed he'd be perfect and complete.
And, as Samuel means "God hears", He's laid His answer at our feet.

(Nicky de Beer : 27/05/2010)

Saturday, December 3, 2016


Woo Hoo! A blog post! This is like, sixth one for the year! Really quite pitiful, if I do say so myself, especially as there are so very many things going on in the Lil Flappy Dude's life that I could probably easily blog every day. 

Where should we start....let's start with some of the not-so-fabulous stuff and, as always, end off with the good stuff. 

Teeth! Teeth? Yes, really...teeth. Of all the issues we'd prepared to deal with when Sam was diagnosed with Rubinstein-Taybi Syndrome I not once expected TEETH to be such an issue.  What the doc should have said when giving us the low-down on RTS was "Child will have walking issues, feeding issues, breathing issues, sensory issues, spinal cord issues, testicle issues, speech issues, orthopaedic issues, digestive issues BUT out of ALL OF THOSE issues....the one which will challenge you the most is TEETH!!" Okay, I'm being a little melodramatic...which is completely out of character...but still.  So we were nearing the end of the three months we had to wait to see what that little talon cusp was going to do and were thankful that the area around the talon cusp had seemed to settle (after lots of infection and inflammation) when a couple of weeks ago Sam started refusing to eat and drink again.  I thought it was just another round of irritation so had a look inside Sam's mouth and was not too happy to see another talon cusp coming through.  Another three-month wait here we come.  With (I think) most of the Rubinstein-Taybi kiddos having developed talon cusps, the issue itself is not anywhere close to being considered medically "serious" or anything like that, but it's all the spin-offs from this "small" issue which are really quite frustrating. 

As always, Sam's first line of defence is to throw some hectic oral sensory aversion at me and refuse to eat or drink...a little annoying but, oh, we've done our time with this stunt and it eventually comes right.  The more worrying problem is that he steps his teeth-grinding up a level or ten.  We've already had to cut the remains of one ground-down tooth out of his gum which caused the subsequent adult tooth to come out sort of in the front of the gum as opposed to out the bottom of the gum because it could not break through the area which had been stitched closed after the procedure.  Now, with there being more irritation in his mouth, Sam has managed to completely grind down yet another tooth into the gum and has another two, mere days away from going the same way.  I get that Sam's REALLY into doing things a little different (because after all DIFFERENT IS COOL!) and I'm really into embracing all that funky difference. But every now and again maybe doing one or two things in the normal just having your teeth come through the right spot in the gum...would be quite fab. 

Funny story though...when we were done with our most recent sensory-instigated fast, the lil dude decided that he was done with pureed foods. Yay!! Of course, we've been here before, but this time it really is looking promising.  We last had pureed food a little more than a week ago ("we"?...because I make a habit of eating pureed food?) and have done really great with sliced beef and chicken, just the minced meat remains a very expressive no-no.  So the meat might have been cut up really small. Like REALLY to about what I'd imagine an ant's portion would be. But still, progress is progress so it most definitely counts.  Only time will tell how long we will be doing ant portions of food though because Sam's sensory issues and digestive issues are not usually keen on parallel progress...but here's hoping!

Random funny story...Sam watches a bit of tv in the morning when he wakes up so that I can try get all the morning tasks seen to.  If Sam has not woken up by a certain time, I usually put a movie on (always Teletubbies Bedtime where Alex sings "Wake up sleepy head"...pretty cute hey?) quite loudly, but on the odd occasion that Sam wakes up before that, he sticks his hands out from under the blanket and before even opening his eyes will sign whichever movie he wants to watch...and it's never Teletubbies Bedtime. You sort of have to see it to appreciate it, but basically he'll be lying dead still (which generally only happens from about 5am onwards) and all of a sudden two little hands will frantically pop up and sign the desired dvd in an exaggerated and very cheeky way...which is so odd, because our lil flappy dude is NEVER cheeky (*exaggerated eyeroll).

Seeing as we're currently into all things -free (puree-free...sleep-free) we decided to have another shot at nappy-free...or as close to that as we can get.  WARNING : POTTY-TALK TO FOLLOW! Previous attempts have been a bit tricky.  While you can get Sam to pee on demand, he doesn't quite seem to grasp the concept of telling you when he has the need to go (there had been a degree of damage to his bladder prior to the spinal cord surgery but there was almost a remarkable improvement after the surgery which in my layman's mind would say that Sam should recognise the "urge" to pee, but specialists' opinions seem unclear).  This might not seem terribly problematic but when attempting to potty train the last time, we found ourselves in a situation where Sam would only urinate when I took him to the toilet, he just refused to pee in a nappy.  The challenge with this is that he freaks out when sitting on the toilet, so he needs to stand...which would ordinarily not be an issue...except that the lil dude obviously cannot stand unassisted.  So I land up supporting him, which leaves those little funky hands free to roam the toilet. Eeeeek! At home this is thankfully a little less of an Eeeeek! but this method of peeing means that Sam using a public toilet is not an option.  The tricky part comes in when you're doing a four-hour trip to Stilbaai and the dude won't pee in his nappy and cannot use a public toilet. You see? Tricky indeed.  Luckily I spotted this nifty little item on Facebook recently...

...and we're giving it a go...and a rather successful go at that.  We've gone days where Sam has only used one nappy the entire day and he seems to have gotten over the idea that he cannot alternate between nappy and toilet (even though it was actually pretty awesome that that was his mindset).  The only minor obstacle here is that I haven't quite yet figured out how I'm going to go about sticking little green, froggy urinals in every public bathroom we might ever need to visit in the greater Cape Town area.  It's a little all over the place for now but it's a start (again) awfully tricky start...but a start nevertheless.

And we're almost on to the really good stuff (nay...awesome stuff).  Last bit of trickiness comes in with those funky little feet.  After acquiring some rather entertaining physical issues (a hip which keeps clicking out...a knobbly-thingy protruding from my neck...and and) I thought it might be best to stop carrying our 25kg's of smurfiness around.  Understandably the lil dude was not too excited about having to abandon his go-to mode of transport, being mom's hip, but now seems quite keen to walk into school (assisted of course) in the mornings...unless we are late (which, ahem, almost NEVER happens) then hip it remains.  So, lil dude is keen to 'walk' and mom is keen to have something vaguely resembling an aligned body back at some stage - it all sounds pretty peachy.  Which it is.  Except for these uniquely-designed little feet :

While it's pretty awesome to see how steadily more confident Sam is becoming on his feet, it's a little worrying that these little feet seem to get more funky by the day.  Sam is not very keen on walking with his AFO's on, but walking without them seems to be worsening both the Hallux Varus in the left foot and the over-pronation in the right foot. So, the problem - Sam needs to walk.  Sam does not want to walk with AFO's. Sam's feet are thus becoming more funky.  The solution? I am clueless. For now. 

And on that terribly constructive's the AWESOME!

My precious little, triple-diagnosed, previously deemed "ineducable" and only worthy of "a place to put him so I could go on with my life" flappy dude took part in his FIRST EVER school concert.  This mama's heart near exploded with pride and awe as I watched him...what an incredible kid! What an incredible inspiration! What an incredible school for being able to recognise the potential which lay hidden in the non-verbal, sensory-dominated labyrinth in which Sam waited to be discovered.  Thankfully though, before I could embarrass myself by turning into a blobbering mushy mess, my not-so-little-anymore very flappy and terribly cheeky dude decided to throw a Sam-spin on things...see for yourself xxx

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