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, February 17, 2011

The kinda surgery I like...

Mmm...okay, that's not entirely correct. More like the kind of "notice" I like about an upcoming surgery. So, we were off to Dr dT (orthopaed) today for a general follow-up and to see what's cutting with that little foot of Sam's. He gave Sam a thorough examination first, as usual, and Smurf was just all smiles and charm (which was quite surprising as, up till then, he'd had a sleepless day and managed to fall asleep literally five minutes before we arrived at the hospital). Neck, back and kneecaps all look great with absolutely NO sign of kneecap dislocation (common in our RTS sweeties) and, which he feels, would have started presenting problems now already if Sam was going to suffer with issues relating to his knees. He had a look at Sam's thumbs and feels that, as Dr C has already mentioned, Sam will definitely need another op to further rectify those angulated thumbs. We are seeing Dr C (orthopaed - hands) within the next few days and he will more than likely concur.

Anyway, onto the foot...Dr dT says that Sam has a Hallux Varus on the left foot which does present in a percentage of the RTS kids. He does not feel that the foot itself is deformed and that, should the foot not be so turned inwards, the "bump" on the outside would not be apparent. The Hallux Varus is usually rectified by a surgical procedure called an Osteotomy (not dissimilar to the Delta Phallynx surgeries Sam had on his thumbs). The procedure, however, is usually only done at 3 years of that's an awesome fifteen month's notice!! (BTW - Sam was 21 months on Tuesday). Sure, I'll probably be a little less enthusiastic closer to the time but after the TSC surgery, I feel we can tackle anything. Okay....maybe except for vomiting. In addition to Sam's rather scary-looking hyperextensible elbow joints, he also has a degree of Ligamentous Laxity which Dr dT says can sometimes cause elbow dislocations but gave Sam's a good feel and said they appear fine at this point. He also watched Sam walk a bit and says that he's using his foot just fine and, if anything, the foot might cause the slightest delay with walking but he doesn't foresee it effecting Sam's walking at all. We see Dr dT again in July for more x-rays of his feet and hips (Sam's, not Dr dT's).

On to physio, Sam had an *awesome* physio session yesterday. There were no tears, no screams and (monstrous YAY!) no throwing up. Sam and I have religiously being doing his stretches at least once or twice every day and Heidi said it showed. Sam spent a great deal of time on his knees and Heidi went through the exercise of standing up from a kneeling position...that was just yesterday. This morning I had him on his knees in the same position and very next thing, in the blink of an eye, he had pulled himself up into a standing position!!! I put him back onto his knees and next thing he was standing again...I even tried to take a pic, but he's so quick to get up that I missed every time. Then later this afternoon, he was sitting on the floor with his back up against the couch (sofa) and calmly turned around to pull himself up into a standing position...Oh My, where has my baby gone? So much progress in such a little time, it almost makes me afraid that, after so much bliss, we're going to be dealt a whopper of a blow to bring us back to earth. Well, might as well enjoy it while it lasts then... :)

One issue that is going nowhere fast is, of course, the throwing up. We had a completely vomit-free day yesterday, but made up for by two today. And, yes, I am still doing battle with the whole Pediasure/Nestargel saga. I keep deciding to give up and just revert back to the S26 as I have weighed Sam every day for the past couple of days and he's just stagnating at 9.0kg. But, Smurf having the sweet-tooth that he has, do you think he's prepared to drink the plain ol' S26 after delicious chocolate and vanilla flavoured Pediasure? No way! I tried to weigh him again this morning but I think our scale is on the blink for sure because, after approximately twenty-something attempts, Sam weighed anything between 8.9 - 10.5Kg's (such a small variance, you know). And trying to get Sam to stand still for the 4 seconds it takes to display the weight is another task altogether but eventually about fifteen of the twenty attempts settled on 9.3kg's, so I am going with this one for now. Which then also means that the Pediasure is probably making a bit of a difference which in turn meant I had to give it another go. So tonight I first let the Nestargel cool (which I don't usually do because it starts forming a "film" on the top as soon as it cools down) before adding the Pediasure. I literally just finished mixing it two minutes ago and it looks like it might be the solution. Here's holding thumbs!

Here's an interesting fact : To date I have so far spent approximately 21,600 hours making Nestargel & Formula! Phew! I suddenly feel exhausted....but first, some pics :)

 Brampies is convinced that Sam is going to either start crawling or walking any day now and so spends a decent amount of time each day doing therapy-type play with Sam. Gotta love him!

 This is that precious moment that I missed snapping, but it was from this position that Sam managed to stand up. I'm on a mission to capture the whole thing!

And a random shot of my most scrumptious cutie pie!


  1. Amazing news....all good and the fact that he is pulling himself up shows improved upper body it will be either crawling or walking soon. Well done Sam and yes have to just love Grandpa too he is truly great. Just imagine what you could have done with all those hours like laze around the pool or get your hair done or maybe relaxed in a bubble bath. Well done to you, you are truly an inspiration!

  2. Aww so sweet. What a great Grandpa.. Great job Sam..