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)

Thursday, June 19, 2014

So about that further comment upon completion of processing...

...we received the official report from the neuro-paed this morning. Sam's newly adjusted diagnosis now reads Rubinstein-Taybi Syndrome, Cerebral Palsy and secondary Autism.

I knew it was coming. I attended a lecture a couple of months ago given by JP Maes on the Maes concept for physiotherapy in kids with CP or similar neurological disorders. I was tagging along as the very minor contribution to the "similar neurological disorders" group. Within minutes into the lecture both the information being shared by JP as well as the little boy being focused on in the  documentary, had me sitting up straight. There were just too many similarities between this little boy and Sam at that age. That, the information I Googled on periventricular leucomalacia and Dr neuro-paed's comments during last week's examination on lesions caused by brain bleeds in utero, abnormal reflexes, etc had me comment to Chris on the way home already that she was thinking CP.

The report also advised that Sam was aggressive and seemingly frustrated...and that he certainly has been for the last 2-3 weeks. So much so that we had to make like a hermit for pretty much most of that time. And yesterday we found out why at Sam's dentist appointment. He has three teeth which have decayed all the way down to the nerve and, according to the dentist, he must be in severe pain.

Aaaahhh...the joy of verbal limitations.

About two years ago Sam chipped his front tooth on some sushi (plastic Nemo in the bathtub). It was noticeable but not too problematic. A few months later the tooth was further chipped during an intubation. Over the passed few months Sam has progressively ground that tooth right down to the gum with his bottom tooth and about a week ago it started turning brown. Hence the dentist appointment which, thankfully, lead us to the two 'brown' molars at the back which haven't even properly broken through yet. So on the 2nd July we'll be doing our second and hopefully last anaesthetic for the year. A bit of a wait and not so wonderful theatre time at 11:30am, but what can you do  *shrug    

Sam's current infatuations are carousels and flags. (Thanks Mr Tumbles) The flags are an easy enough hit, a short drive just through town usually has Sam exclaiming in excitement. Carousels? Little bit of a more challenging find they are. Luckily there is a small 3-horse carousel in the same centre as the dentist. Walking passed it was an absolute squeal (literally) for Sam on Monday, which was a public holiday and ensured that the carousel was constantly being ridden by other kids, to Sam's delight. As with most of Sam's infatuations, he prefers viewing them from a distance and shudders in fear if you get too close.

Sam was so well-behaved at his dentist appointment yesterday and allowed a thorough examination of his teeth, albeit through some harsh sounding but luckily unproductive gagging. Seeing as he'd frantically started signing carousel the moment we entered the parking lot, I promised him a stroll plastit after our appointment. What a bummer!  Mid-week morning meant no carousel-riding kiddies for Sam to watch :(

My makeshift homemade 'safer' Sam-friendly variation on a flag...he seems happy enough!


1 comment:

  1. Wow Nicky! I haven't been keeping up with blogs (hardly my own either) so I am just seeing this news and amazed! I didn't realize there was any question about his spine, and I can imagine your incredulity at not being aware, what with you being the parent and all. Hugs and prayers to you Nicky. I'm sure so many things make more sense, but it doesn't make it any easier.