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)

Sunday, October 10, 2010

A very busy squirmey wormey.......!

Wow - so I wasn't even sure I was going to lay eyes...or hands...on this pc again before it came time to announce that Sam just turned 21! Our little boy has become extremely busy and just wants to be on the go all the time, which is great....if you're doing the "going" on your own. But when it's Mom (mostly) that's having to be the "vehicle" upon which you do your going then it becomes a little more taxing (pardon the pun). Over the past week and a bit Sam has progressively become more and more that "little boy" that we so often see lurking behind that mischievous smile of his....and oh boy, do I see heaps of mischief ahead of us. Firstly, it seems even the mere mention of a possible surgery seems to have jolted Sam into action as all of a sudden his sitting and "crawling" has improved remarkably. He can now sit unsupported for a good ten minutes. Although he cannot fully bring himself up into the sitting position, if he's lying on a bit of a slant he can actually pull himself up into a sitting position - those little tummy muscles are working overtime and although when he begins leaning a little to one side he still neglects to put an arm out to support himself, he just strains those little abs and somehow manages to bring himself upright's quite adorable watching him and I don't doubt he's going to have a sixpack that Dad would die for! He can also, when sitting between our legs, move from a sitting position into the crawling position, supporting his tummy on our thighs and can move back again from there into the sitting position. He still ADORES jumping and is developing quite the little calf muscles to prove it and loves "walking", which is basically Sam positioned in front of me holding onto my hands and "walking". I say "walking" because unfortunately that little turned-in left foot of his quite severely hinders his stepping at the moment, making it more of a step...crab-like drag....step motion. We are scheduled to meet with his orthopaed in January again and although I considered moving it forward in case his little Sam "swagger" becomes quite habit forming, we are just concentrating on the tethered spinal cord situation for now and will first see that through before we move onto the next issue. Still, swagger or no swagger, Sam is extremely sturdy on his little legs and sometimes even gets irritated with me holding his hands and tries to shake them away. Of course, him being the incredibly tall little 16 month old that he is, his standing position puts his hands at almost the exact same level as Belle aka Kitty which, combined with Sam's still-worrying love for pulling hair, makes for many entertaining moments....for Sam that is, not so much "Kitty".

There's more....there's more....he's making so many new sounds and you can just see that desire for communication simply bursting out of him and, as I think I've mentioned before, he even has different "voices" reserved for different activities like animal conversations, keyboard playing, hair pulling, "throwing" toys, etc. And one final new "development"...Sam has gone from absolutely LOATHING being on his stomach to loving it so much that trying to change him or dress him has become so tricky that I sometimes just leave him "as is" until he's gotten his "crawling" over and done with and then try again later (unless it's a nappy change that is...unfortunately we then have to persevere). But this flip (literally) in behaviour is so so welcoming that it's hard to complain.

Sam has had seven teeth come through since mid-June and his mouth really seems to be driving him pretty crazy as a result. He will chew on anything...ANYTHING! I was standing by the window with him earlier today and next thing he had grabbed the curtains and was chewing on that! 

On to the last resort chewable items, which is his clothes. We have to try keep a bib on him lately, not to help manage the dribbling, but to prevent him from chewing on his actual sweater and sleeves.

 Now, here we have Sam's version of crawling and let me tell you, it's really quite an exhausting exercise and really rather odd as he insists on his arms and hands being under his stomach while he's doing his squirmey wormey exercise. So it first takes some time to get those hands to the side....
 Then he has to lift his bum to get them securely underneath.....

And then he pushes with his legs, squishing that little face solidly down while the little bum stays in the air...presumably for navigational purposes? Who knows!
And so the whole process begins again...and believe it or not, he manages to cover a considerable amount of "ground" this way. For obvious reasons, we've had to restrict his crawling to mainly the bed in order to avoid carpet burns on his face!!
As weird as what the whole process is for us....Sam absolutely loves that he is now a little more mobile and is always quite pleased with himself after doing a few laps of the bed!

A random adoring smile just for Dad!

So, it's been a physically exhausting and busy week, but for all the right reasons, not the usual cause being back-to-back specialist appointments or hospital stays, but filled with the most encouraging, heart-warming, beautiful moments of watching our Sam telling us in now uncertain terms that although his conquests sometimes seem few and far is sometimes many and all at once!

In addition to all the above excitement, Luke celebrated his 17th birthday on Thursday. Yikes! Maybe my physial exhaustion is not completely detached from the psychological disbelief that I now have a seventeen year old son! Moving swiftly along......

We are seeing a professor of paediatric neurosurgery tomorrow morning at 11am so, hopefully, by this time tomorrow we will also know where we stand with Sam's tethered spinal cord story.


  1. Hi Nicky,
    Now that is so amazing all this progress in such a short time. Great news especially the mobility that seems to have gone in leaps and out there is no stopping him now. Always thought you would be in for a tough time once he became mobile. I love the photos how on earth did you manage to get them in exact sequence with squirmy wormey? Such a happy little chap yet that naughty smile is not there for nothing.....Well done to you the hard work is now all the more worth it.....lots of love Anthea

  2. Go Sam Go! I'm so glad you've made good progress recently to encourage your mum to keep pushing you. And your communication is great! Keep it up!