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...
SAMUEL - COMPLETE IN GOD
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 happening....to 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, August 25, 2011

Pondering.....................

Sam had his two week post-op appointment yesterday afternoon. We sat in the waiting room for almost three times the length of time our actual consultation took. Fear not though...the consultation took less than ten minutes so the thirty minutes spent waiting was nowhere near catastrophic (we've endured almost twice as long sometimes), however it was the rather hostile ambience in the waiting room that made it slightly unpleasant. We were met with a rather dismissive nod of the head and a barely audible something-resembling-a-greeting/acknowledgement of presence. (Just a quick ponder - when one decides to take on a position as a medical practitioner's receptionist, you do surely take into account that said position will entail considerable interaction with people, right?).

With an already anxious knot in my stomach over Sam's questionable behaviour, especially in public, I was relieved to find the waiting room empty. However, literally before I had a chance to sit down an additional six people came in - a mom with three kiddies in tow and another mom with just the one little boy. The kids all promptly grabbed themselves a book from the bookcase and settled down, with the exception of one little girl who after throwing a rather entertaining tantrum when mom refused to surrender her mag in order to read her little girl a story, came and sat down next to us in a bit of a sulk. By this time I had already read through the only two books I had managed to grab out of the car on the way in, but which books Sam was already throwing down on the floor from frustration and boredom. Sam started squirming and throwing himself back and I prepared myself for the almost inevitable smack in the face. In an effort to distract him, I grabbed my cellphone and quickly started the video of Meg singing "Wheels on the Bus" to Sam. Just as I did this, an elderly lady came out of the consultation room and, as we sat right up against the reception's desk, came and stood right next to us. She glanced at me, holding my phone in front of Sam...at the little girl next to me, also "bookless" (obviously presuming that she belonged to me as her mom sat across the room with her siblings) and then at the other children who were all sitting reading quietly. She looked back at me and with a smug-type chuckle said "I never thought I'd see the day when you could entertain a child with a cellphone" and then to the little girl next to me "There's lots of books on the shelf for you to read" whereafter she shared a brief roll of the eyes with the mom of the one little boy, before leaving. (The mom of three kept her eyes glued to the Kate & Will article she was apparently completely engrossed in). (Just a quick ponder - at what point does any individual feel that they are *that* perfect a human being and just *that* perceptive that they should have no qualms about commenting on complete strangers' children...whether it be regarding behaviour, appearance, development, etc?).  Here's building the bridge and moving on to the actual consultation which was relatively unremarkable.

Unremarkable is anything but what my own ENT appointment was this morning. It turns out that there's fairly good reason for the constant throbbing and general stuffiness of my left nasal passage...that reason being that our "Rocky Balboa wannabe" has managed to cause some serious internal swelling to my nose, as well as appearing to have dislodged my newly-septoplastied cartilage. How awesome is that? I know Sam and I are close and all but did he really feel it necessary for us both to have repetitive surgeries! Hopefully though the current swelling will go down enough for us to find at my next follow-up that things aren't as gloomy as they seemed today, possibly avoiding a retake.

Over the past couple of days I have read several posts/FB chats about a number of RTS sweeties who have taken a liking to hair pulling and/or biting and the general feel seems to be that a frustration at not being able to communicate properly is largely responsible.  Apart from the discussions reminding us that many RTS families are going/have gone through similar challenges, it also got us thinking about whether lack of communication could be contributing to Sam's behaviour as well. So we are seriously contemplating buying Sam an iPad. Yes, we know that he might appear to be too young to use it, but let us take into account that he not only knows that the remote control manipulates the PVR, but can also stop and start video's on my cellphone. We are not completely decided yet, especially as an iPad is a fairly pricey little device (well for us at least) but if there's even the slightest chance that it might aid Sam's communication I think it most certainly deserves a really good think.

(Just a quick ponder - if our friendly waiting-room-consultant was so horribly taken aback at Sam's operating my cellphone, imagine her utter disapproval had it been an iPad.

Friday, August 19, 2011

Happy Days :)

Perhaps "Happy Days" is a tad too extreme in the midst of Sam's slow recovery and the ever increasing SID (which resulted in Sam's much anticipated "first" bath in seven days being reduced to little more than a clingy, whiney, petrified ten minutes). Still, the Happy Dance is most certainly what I felt like doing when leaving the hospital yesterday morning after our urology consultation.

The first ten minutes started off a little shakey when Sam started crying as the dressings were being taken off (can hardly blame him though, the skin under the dressings had turned a rather angry red) and for a split-second it looked like we'd be doing some v-word cleaning up right there and then. But my super-brave little smurf pulled it together and before you could say "vomit be gone" it was all over. Even though it was already the second time I've seen the wounds, the length of each still startled me initially and of course the right side, having been subjected to a far more aggressive surgery, is still relatively swollen and bulgey.

So, the good news...is that we can wait up to as long as eighteen months to two years before we need to open up the right side to go remedy the halfway-relocated testicle. And it gets even better yet - as the left testicle is securely embedded where it's meant to be and as only one testicle is really necessary to ensure adequate hormone production when Sam hits puberty, Dr J advised that it would be quite okay for us to simply remove the right testicle when the time comes as opposed to having to put Sam through this entire ordeal again. I was *SO* relieved to hear that, that I could have skywritten "YAY" with my immensely long sigh of relief  :)

We have an appointment with Sam's hand surgeon next month to make sure that his thumbs have not started angulating again and also to figure out what's going on with five of the remaining eight fingers which fingers are currently unable to be straightened/flattened. At this point it appears as though it might be a problem with his tendons being too taut, but we'll confirm this then as well as to what intervention is required. Should surgical intervention be the only option (which is how it looks right now) I am most definitely going to request that we prolong it as much as possible but trying to avoid permanent damage to the fingers is obviously also vital. It would be so amazing if it turns out that we could get away with the next twelve to eighteen months (at the very least) being completely surgery-free, after which we could perhaps consider doing the fingers and remaining teste together. After yesterday's surprisingly optimistic appointment though I can just see us leaving Dr C's rooms next month with a completely surgery-free remedy for Sam's little fingers. Here's praying :)

The only slightly downside to yesterday's events was that Sam's basic allergy tests came back negative for food products and external allergens but with raised igE levels (immunoglobulin E). For this specific purpose, a more detailed blood test was requested but unfortunately not enough blood was drawn during surgery to carry out the further tests so once Sam is feeling a little less traumatised, we will have to see about drawing some more blood. Sounds fairly simple, right? Well, if you'd been in that ward on Friday watching the pathologists desperately trying to find one of Sam's extremely elusive veins you would understand how much of a challenge this could turn out to be :)  For now, we're just putting this thought out of our minds and taking it day-by-day...in between trying to sidestep Sam's still ongoing target practice, with my face being the bull's eye! *Oh Happy Days....Oh Happy Days*

Wednesday, August 17, 2011

A little too familiar......

Okay, so we are on post-op Day no. 5 and already the all too familiar signs of the sensory trauma Sam experienced with his TSC surgery are here. The only difference? They've showed up so much sooner and with equal, if not elevating, intensity. Which effectively means we have had to accept back into our lives the relentless startling/Moro when moving or basically handling Sam or just putting him down to sit on the floor, the struggle to get him to eat and...joy of joys....the waking up crying every night. I am also struggling to control his pain effectively as suppositories are officially a no-no as from last night, due to the obvious discomfort he experiences when putting it in and the alternative option prescribed, being Myprodol suspension, makes him cough, gag and ultimately v-word so we are relying solely on 3-hourly, alternating doses of Ponstan and Panado for total pain relief - certainly not the most optimal solution. Yesterday definitely seems to have been Sam's worst day so far. In addition to his slightly-off wellbeing at the moment he seems to be holding me personally responsible for his whole ordeal. Quite a hectic statement to make, for sure...but what other assumption can I make taking his sudden obsession with smacking me in the face, more often than not square on my barely five-week-old post-surgery nose. I mean, I can certainly relate to his wanting to see more of my ENT...she really is THAT lovely a person...but there has to be another way to go about it :-D
I am trying really hard not to keep replaying the events of Friday over in my mind, but it's quite difficult when I think of all the "small" changes that could have been made which in turn would have resulted in HUGE improvements in the way everything played out. But a lesson or two has been harshly learnt in that I have had to realise I am nowhere near as assertive as I thought I was when it comes to advocating for Sam's care and that both Chris and I are sometimes so afraid of upsetting others, that it obscures our vision of ALWAYS ensuring that we act in Samuel's best interest first, regardless of whatever bad feelings might need to be dealt with as a consequence.

But, thank the Lord, tomorrow is a new day! I am going to write the remainder of this day off due to the already immense amount of time wasted on dwelling on my "what if's" and "should have's" and the potential number of "what if's" and "should have's" I am bound to dredge up before the end of the day (Oh...indulge me a little!). I am anxious to get to our follow-up appointment with the urologist tomorrow at 10:00am to find out for sure what, if any, other alternatives there are to having to put Sam through this again in Feb. I have read that there's a medication that could be used to bring the remaining teste down (although not sure if this is an option here in SA) or really kinda loved Aunty A's suggestion that we rely on faith to bring it down..but alas, I forgot that Dr J mentioned that in order to avoid the right teste from moving back up again before continuing the process, as the left one did, they have secured it to a blood vessel which I am sure would also prevent it from moving down.

In closing, some pics of our little conquering smurf....

On Saturday morning we were still under the silly disillusion that keeping Sam in bed the ENTIRE day might be an actual possibility. And Sam, being the ever compliant little babe that he his (?) decided to play along with some "fake" sleeping.


By Sunday Sam was determined to be more mobile and, as we were still doing suppositories then and had already been told by his urologist that a little crawling won't do any damage, we decided to give him some freedom. He did look frightfully "out of it' though...
...and just seemed to wander around in a bit of a daze at first.

It was't long before Sam found his favourite First Baby Words Book and wasted no time in finding one of his favourite pictures - the kitty. And talking about kittie's...our two are quite baffled, but certainly not ungrateful, for the few day's grace they've had from our tail-pulling little smurf.

Anyway, it wasn't long before simply paging through his book became too dreary and was quickly turned into some smurfskiing.....

On Monday it was Miley's turn to go for a spin!

Sam is fascinated with any picture of a person's face (particularly if it happens to be a female face)


"May the God of hope fill you with all joy and peace as you trust in Him, so that you may overflow with hope."
Romans 15:13


Saturday, August 13, 2011

And surgery No. 4 already on countdown..

It's a little over twenty-four hours since Sam came out of theatre after having his adenoids removed and, more importantly, his undescended testes brought down...or should I say, partially brought down. My source of reassurance over the past couple of weeks building up to yesterday's surgery was that if we could get through Sam's TSC surgery, we could pretty much get through anything, right?

Wrong! The day started off badly with us misjudging the morning traffic into town so we arrived almost 40 mins late, then instead of the original one-and-a-half hours guestimated surgery time, Sam was under for an extra hour and eventually came out of theatre just before 11am, after going in at 7:45. And obviously there had to be a reason for the extra time, which reason could only be a complication. The complication - Sam's right testicle was sitting too high up for them to bring it all the way down in one go without damaging the blood vessel which would in turn cause the testicle to shrivel up and die. So instead the teste has been brought partially down and attached to a blood vessel to kind of hold it in place for six month's, when the urologist will have to go in again to try and finish the process. As if that wasn't devastating enough, for the first time Sam really battled to come out of the anaesthetic and the nursing staff were less than attentive (even though we were in high care) and at one stage left Sam screaming for 45 mins and only came to check on us after he'd thrown up. Sam seems to have been more traumatised this time than with the TSC surgery. He is in full sensory overload at the moment, we can hardly touch or move him without him startling or crying, even tho he's on the same painmeds as the last time, which pain meds had him doing all kinds of acrobatics regardless of the long cut in his back. Disappointment and anxiety are setting the mood at the moment, having to accept that Sam has to go through this all again so soon :(

There is one thing though that does lift the spirits and that is once again the number of messages, well wishes we've received and genuine concern shown from good friends and family, among others from Monique, Henriette, Sara, Laura, Ina, Rone, Aunty Bernie, Elaine and especially Aunty Mandie, Aunty Cammy, Granny, Brampies and Aunty Anthea and precious cousin Amy...thank you so much for keeping us and, more importantly, little smurf in your thoughts...xxx

"Family isn't always blood. It's the people in your life who want you
in theirs. The ones who accept you for who you are. The ones who
would do anything to see you smile, and who love you no matter what."

Saturday, August 6, 2011

But Mom...I just LUV her!

Mom [wondering why Sam is so quiet] : What you doing, Sammy?

Sam [smiling innocently] : Nah, nothing Ma...you know, just hanging around and stuff!

As soon as Mom turns her head (or so Sam thinks), he focuses again on the object of his attention, with a grin so mischievous it's even apparent from behind...while humming softly to himself "A hunting we will go....."

Okay...so first we try lift up this leg... 

Or maybe it's THIS leg... 

No! No! It MUST be this leg then... 

Oh..COME ON! I am soooooo close.

And what, may we ask little smurf, might have you so determined to climb up on the chair?


Why, the kitty, of course! Oh please, Mom, don't just sit there giggling while I struggle so. I PROMISE not to grab her by the tail as I *ALWAYS* do. I just LUV my kitty so much. Please? 

Seriously? You're just gonna sit there?  
Well, who can say "No" to such a desperate little face? So, I lifted Sam up onto the chair and guided his hand to softly touch our Belle Kitty, but the second I let go of his hand, what do you think he did?
Promptly grabbed her by the tail and tried to lift her up, as always. Anyone have any great ideas/suggestions for somehow showing a predominantly non-communicative smurf how to gently deal with animals? Sigh.

Trying to climb up on chairs is not the only thing our busy little boy has been up to. In keeping with his obsession with knocking and banging, he has found the closing of Oupa's newly made safety gate to be extremely entertaining. And will go to any lengths, literally, to slam it...again...and again...and again! And, if we refuse to indulge him, he'll jolly well try and do it himself. 




What a busy little boy....a gloriously and thankfully busy little boy!

So.......6 sleeps till Sam's surgeries! Let the nerves begin. *Double Sigh!*