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, April 27, 2014

After a wonderful long Easter weekend in Stilbaai (although less than wonderful journey there compliments of the frightening number of reckless drivers on the road Thursday evening and a very grumpy smurfy dude who was not dealing well with the traffic delays) we started our week with Sam's MRI on Tuesday. I was a little tense about Sam being only third on the list and managing till 10:00 am without his morning bottle but with the exception of a few iffy moments where he seemed on the brink of a major wobble, he actually surprised me by managing even longer as the MRI department only sent for Sam at 10:40am. The entire scan took about an hour and forty minutes. The anaesthetist initially planned on trying to make do with a Laryngeal Mask as opposed to going with the compulsory intubation as per the RTS Medical Guidelines, seeing as there was no real procedure taking place. Sam having had seven previous anaesthetics, all with intubation from the onset, I was curious as to how his airway would react but the anaesthetist reported that Sam's airways collapsed almost immediately and so she had to intubate after all. At least now we know for sure that it's completely necessary and most definitely compulsory. 
Also as a precaution, an IV was placed... in Sam's right hand. The right hand of the same kid who almost always spews his stomach contents at the slightest contact from anything remotely resembling a plaster. Once again we couldn't even secure his hospital Id tag around his wrist upon admission. So an IV? Simply asking for trouble, despite there being no stomach contents to spew. Before even opening his eyes properly Sam started trying to bang the plasters off his hand, stopping only to alternate with frantically trying to pull it off himself. Before we could be discharged Sam had to have had something to drink/eat and passed urine. After a while the nurse eventually agreed that as long as the IV stayed in Sam's hand there would be no drinking or eating happening. Once it had been removed the starving little dude, now 17 hours since his last Pediasure intake, polished off a bottle, a bowl of jelly and custard and a yoghurt to follow when he repeatedly signed more. Sort of explains his sporting a healthy 16.9kg's on that no-so-smurfy-anymore frame. After waiting patiently for a wet nappy which would normally okay a patient for discharge, I shared with the nurse that Sam can go anything from six to sixteen hours without urinating especially when there are constipation issues at play (inevitable with anaesthesia) and so we left the hospital shortly thereafter...minus a wet nappy and the MRI results. 

Feeling a little sorry for himself

But still managing a smile

It was a little disappointing leaving without the results, particularly because with the last MRI they were sent to the ward almost immediately. The radiologist though had requested the previous scans images and reports which didn't quite make sense to me as I felt that having a completely 'fresh' review could hardly be a bad thing but nevertheless rushed the package along to the hospital early Wed morning, with a more than usual wheezy Sam in tow. By lunchtime on Thursday, after still no feedback, I called the neuro's office and was assured that he had received the results but was still going over them. Concern started creeping in at an alarming rate. 

Eventually on Friday afternoon the neuro guy called. Pheeeeeeeeeew!

He said that Sam's spinal cord was a little more low-lying than normal but a definite  improvement at L2 as opposed to L4 pre TSC surgery. He also shared that sometimes with a tethered spinal cord, the stretching of the cord can result in a Syrinx (or several) in the cord which is effectively little holes which form but was happy to advise that Sam's spinal cord is looking very healthy. And then he shared a rather profound bit of information regarding Sam's brain scan! 

Brain scan? Didn't know Sam was having a brain scan, did you? Nope? Me neither! For like forever I've whined about how intriguing it would be for Sam to have a brain scan to confirm whether he has the Agenisis/partial Agenisis of the Corpus Callosum often associated with Rubinstein-Taybi Syndrome. Not because it would cause an earth-shattering change to life as we know it but in the hope that the knowledge, if confirmed, together with more relevant and deeper research might lead way to my being able to sort of more effectively focus on the areas of development which Sam seems to struggle with the most. I guess a better way to describe it would be an incessant fear that I am missing something, that there is a wasted opportunity to help Sam reach his utmost potential simply because of ignorance or lack of knowledge. Watching as many of Sam's RTS siblings achieve milestones Sam has yet to conquer, often at less than half his age, has for sure left me wondering sometimes. Not jealous. Not bitter. Just really puzzled. So with Sam seemingly determined to even do different differently I would expect nothing short of a puzzling brain scan. And puzzling it was. Sam's scan showed a *normal* brain. 

Hysterically happy dancing? Absobloominglutely!

I waited in silence after the doc delivered his news for the "But..." only to hear the neurosurgeon admitting with amusement that he too had been a little surprised, so much so that he had phoned the radiologist to double check that there had been no mistake. The radiologist reassured him that Sam's Corpus Callosum is completely intact and very much present. The doc explained further that apart from tiny bubble-like cavities surrounding the blood vessels, most often associated with IUGR (which I confirmed being diagnosed with at 24weeks), referred to as luposomethingcephaly (my brain was struggling at this point with the wave of thoughts bombarding it - sorry) Sam's brain appeared as that of a typically developing child. How incredibly fascinating. The next step now is perhaps a little less jovial - a referral to a   developmental paediatrician to rule out any additional issues at play in that awesome little mind. We know there's the Sensory Processing Disorder which I've often complained seems more of a challenge to Sam than anything else. Who knows. I'm not even going to try and entertain my own assumptions at this point xxx

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