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)

Wednesday, March 31, 2010


Sam absolutely hates his Bambino seat, but we persevere
and try for a short while every day as it's the closest we
can get to him sitting
Of course he requires a shower cap - have you seen that mop
of hair? JUST KIDDING!

No, we are not trying to make a fashion statement with the
one sock - Sam had an ingrown toenail on his little "big toe" and
kept kicking and knocking it, so - this is damage control!

Having a laugh at yet another attempted feed on my part - as
you can see the majority of the food landed up on his clothes and, yes,
he actually did have a bib on!

He's developed this really...uuuhhmmm interesting (I guess) habit
of playing his tongue like this and has Meghan and Luke fascinated
at the angle and curves he manages to twist his tongue into.

In the throws of another "jumping" session - I've yet to try and
catch the actual "jump" on camera but this is the look he gets
when he knows he's about to spring another one on us (pardon
the pun)

Tuesday, March 30, 2010

What comes after Grumpy?

Grumpy with a capital GRUMP? Grumpier Smurf? No, just doesn't sound right. Well, whatever the next "upsize" is to Grumpy Smurf - that's what Sam is! I guess, in his defense, the fact that he has another hectic viral infection means we can't really lay ALL the blame on him....JUST KIDDING! Of course we don't blame him. The poor little guy....what with throwing up all over the place (and I literally mean ALL OVER the place), tummy cramps caused by his runny tummy, fever, coughing and a rash for good measure, he hasn't had to put much effort into living up to his nickname. Actually, to be fair, even though he's been ill again he still finds time to smile and laugh and....SING! Yes, sing! Well at least that's what it sounds like he's trying to do...not 100% sure to be honest, but it's not baby babble and it's not crying or really kinda sounds like he's trying to sing.

I have to say that, when he's a little more healthy, he actually isn't nearly as grumpy as what he used to be. He definitely laughs and smiles more and his laughing and smiling doesn't need nearly as much instigating as it used to. In actual fact, there's a fair list of things he finds quite amusing like Dad's "bird" impressions, Meghan dancing around like a cheerleader on a HUGE sugar-high (baby rattles in hand for pom-poms), wind chimes (all rearranged for Sam's convenience and easy reach), our nightly bath-time routine which starts off with Sam's exposed bums being chased by Dad, Luke's dancing robot commonly known as "Bot" (a must have for effortless entertainment), calling the cats or Max the chow, whistling, singing "The Wheels of the Bus" (which gets sung at EVERY feeding time in order to distract Sam enough for him not to realise I am shovelling food in his mouth), heaps and heaps of hand-clapping....or even just giving him a smile is instantly rewarded with his toothless, own precious smile. So, as time goes slowly by, Grumpy Smurf's personality seems to transforming into a rather charming, entertaining and giggle-loving little boy who you can actually interact with now and really PLAY with...which is so very VERY awesome!

AND....he loves to jump....REALLY! No, he cannot sit yet and is nowhere near to crawling but stand him up on those two little legs and of he goes. Now of course, it's his own unique version of jumping, which in this case means he spends at least a minute trying to remember what he has to do to initiate this whole first the one little leg will shake and buckle a little and then he stops and thinks "No, that's not it"...then the other little leg goes through the same Elvis-type process....then all of a sudden his bum shoots out backwards and he stops again and thinks "No, that's not it either" and then all of a sudden those two little legs disappear under him as he pulls them both up (which is his version of course) and his face is instantly filled with excitement as (while you are trying to keep him from landing flat on his face at he's weight-bearing suddenly disappearing) he realises....YAHOO...I REMEMBERED!!! You gotta love him!

We have also over the past couple of weeks found that Sam is starting to outgrow his clothes at a hectic pace, in actual fact, in the space of about one week I had to pack away at least six or seven items of clothing which no longer fit him. So, what is Sammy's new size? 3 - 6 MONTHS! He has finally outgrown 0 - 3 months which, considering he's 11 months on 15 April, is looooooong overdue. And of course Meghan is ecstatic because her Baby Born doll has loads of new clothes.

So, it's a little frustrating that Sammy's ill again....we thought we were having a good run with no really serious health-issues since he's being hospitalised in December. In fact, just over a week ago we had all his usual follow-up appointments with the ENT, Orthopaed, Opthalmologist, etc and it was all looking great and then exactly a week later (and also a week after his most recent vaccinations) he started off with a fever and then within hours the vomiting, runny tummy, etc started.

Well, at least we had those two and a bit months of smooth-sailing, which is something to really be thankful for :-)

Sunday, March 21, 2010

AND.......WE'RE BACK!!!!

Now it would be awesome to tell you that the reason we have been M.I.A. for the last month or so was that early one bright and sunny morning we were woken up by a guy with a bullhorn shouting “GOOD MORNING DE BEER FAMILY” and who promptly sent us off on a four week vacation (seven days would just not cut it with our house) to Disney World and the Seychelles and whatever other wonderful holiday destinations there are…but alas, this was no doing of old Tye and his Extreme Makeover team. Rather – our dear old PC gave his last 123EX4756504650456XXX Error message and passed peacefully away. He is definitely in a better place, it was a long and drawn out demise with every day bringing with it a new and unimaginable error message. Not to mention the frustration for dear ol’ Mom who would spend like an hour or so typing up a new blog entry – which usually means type one sentence, put on nestargel, type another sentence, take off nestargel, type one sentence, add formula and so on and so on. No wonder my blogs very seldom seem to “flow” from one paragraph to the next – and then, just before publishing the post the pc would inevitably crash and burn and there would go my entry. Or I would start downloading my 150+ emails and on email 149 it would just restart itself and there we would delightfully begin at email no. 1 again!!!!

Says Mom : Aaarrrrrggghhhh

And then dear Chris (sorry Love, have to tell this story) first tried to resuscitate old PC with the donation of another hard drive (thanks Ed and Uncle Joe) but in the process managed to delete not only ALL my saved emails and email addy’s but (horror of horrors) every single picture we have of Sammy from like 3 months old to date!!!

Says Mom : Aaaarrrrrgggggghhhhh

But…OH HAPPY DAYS….the arrival of a brand new pc has brought with it the hope of once again having my lifeline to the outside world being connected. I have missed reading all the blogs of our wonderful RTS family and gathering as much info as I can from the RTS email list.

So, back to the reason we are ultimately here, our little bundle of joy….Grumpy Smurf. Actually, Grumpy Smurf is not doing too shabby lately. The past few days have been a little cooler which makes HEAPS of difference to his mood. He is still not loving solids but tolerating it and has managed to bring his weight up to 6.3 kgs which is HUGE for Sam….and even measured 63cm on Friday (hey, that’s only 90cm shorter than me and I have a thirty-five year headstart on him). He had another appointment with the ENT and orthopaed surgeon on Thursday and all is looking really well. But most importantly, he is really becoming his own precious little person. He doesn’t sit completely on his own yet, but balances nicely on your knee and “speaks” non-stop now (yip, even right through church service on a Sunday which means I am still bound to patrolling the foyer most of the time). He is grasping things more confidently now and doing some weight-bearing on those tiny little legs and even does, what in his mind, is a little jump (which means he all of a sudden just bring his little legs up) and shrieks with joy. He is just so incredibly alert and alive…every day with him is just such an incredible experience…yes, even the more challenging days J