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)

Monday, September 20, 2010

What's Brewing?

We are not quite certain what's up with our little Smurf at the moment but, for the greater part, he appears to be in some kind of discomfort or possibly even pain...or at the very least seems really unsettled, almost all of the time. It's been going on for quite some time now and there are so many possible causes from the rather aggressive way he is teething to him still suffering some kind of post-hospitalisation trauma from his recent kidney infection and pneumonia, which I shouldn't completely rule out as per Sam's NDT. His always-ready joyful laugh is becoming quite a rare occasion now and slowly being replaced by his regular crying and the way he violently whips himself back. In fact, the way he throws himself back is probably at the worst point its ever been...where it sometimes becomes almost impossible to handle him, as the action becomes more and more forceful. We had an incident last week where I actually almost dropped him because as I leaned over to place him in his then-swing-now-feeding chair with one hand at the back of his neck and the other supporting his behind, he arched that little back of his with such power that his bum slipped out of my hand and if it wasn't for me managing to grasp one little ankle, he would have landed up on the floor. It is so frustrating, not only because it makes some of our days pretty challenging but it's also affecting Sam's development as well because trying to get him into a sitting position now is almost impossible and even attempting a crawling position is an absolute no-no! Most importantly though, it breaks my heart to think that there might be something causing him such discomfort without me being able to determine what the source is and making it better for him.

The kidney infection gave me quite a scare because it was most probably caused by an untreated bladder infection which is really quite horrible because, as someone who has suffered countless bladder infections and related problems, the idea that Sammy had to endure this kind of pain for so long is unbearable. Even more scary, if he hadn't landed up in hospital with the kidney infection we wouldn't have known he had the pneumonia which didn't present itself when his docs listenend to Sam's chest. I decided to buy my own urine test kit and check Sam's urine every couple of days and even the most recent test, being today, showed no indication of an infection so I am truly stumped.

Thankfully Sam's MRI to rule out a tethered spinal cord has been re-scheduled for this coming Wednesday at 09:00am so, although I am still trying to figure out how we are going to manage the nil per mouth instruction when normally by that time every day Sam's already had two bottles AND a large bowl of porridge, I am quite keen to get it over with if a TSC could possibly be the cause of his misery.

Sam has also begun seeing a speech therapist again as of last Wednesday, this time for actual communication and not feeding purposes although the fact that swallowing is still not a reflex that comes naturally to him is still quite bewildering sometimes. Sam has showed some encouraging signs in that he recognises several words like "kitty, Max, fan (he still LOVES ceiling fans), Bot" (the robot which has been passed down from Luke to Meg and now Sam) and even differentiates between "baba" and "babies" - we have a collage of photo's on one wall with pictures of Meg and Luke as babies which we refer to as "the babies" and then on another wall a single pic of Meg as a baby which we refer to as "baba Meghan" and whichever one you say to him, he points with that gorgeous little finger to the correct one. BTW, there used to be a "baba Luke" as well until, with Brampa's help, baba Sam yanked it off the wall leaving it smashed into pieces on the floor! Also the fact that he points that little finger as a means of communicating what he wants or where he wants to go is also quite a big positive. So we were scheduled for another session this coming Wednesday, but obviously the MRI takes preference so will have to postpone till next week sometime.

The only thing that remains a no-fail remedy for getting Smurf's spirits up is being outside...he absolutely ADORES it, light-sensitivity and all. The second you start making the slightest move towards any door which leads outside, he becomes almost hysterical with excitement. We tentatively planned to take the kids out for the day on Sunday as, according to the always-accurate weather predictions, we were to have a fairly lovely weekend. For some reason I suggested to Chris on the spur of the moment that we do it on Saturday instead, which turned out to be an unanticipated "save" as Sunday's weather turned out thoroughly miserable with rain, gusty winds and the works. We decided to take the girls to Bugzworld which is fairly close to home as this was going to be Sam's very first proper outing to somewhere other than a doctor's room or therapy session of some sort or increasingly-occasional shop and we were quite nervous of the potentially disastrous turn the outing could take. However, we needn't have worried for even a milli-second as Sammy enjoyed every minute of the afternoon and was quite content to be walked around on my arm just taking in all the different sounds and scenes, as there wasn't really many activities for him, and even managed to fall asleep mid-swing on my lap for a fairly decent (for Sam) twenty-minute nap. It was literally only as we were walking towards the gate to leave that he started whinging a bit, so well done Sam for making it such a pleasant afternoon!

These last two pics were actually taken a few weeks ago already of Sam enjoying his very first ice-cream....or rather, enjoying MY ice-cream (chocolate of course). The oddest thing about him having the ice-cream, other than the incredibly cute choco-mouth it gave Sam, was that after each and every mouthful he neatly closed his little mouth and swallowed whereas when eating normal food he can sit there for a full 60 seconds with the food literally falling out the mouth while I try frantically to stimulate his chin to get him to close his mouth and swallow.


  1. Love the pictures.....he sure loves the outdoors Little Smurf...and how about peter pointer....that is great news that he can at least show you what he wants. If only he could let you know whats bothering him this is the hardest part, the not knowing its very frustrating. The girls seem to have had a good time too. Lovely family day outdoors....

  2. One of my biggest fears with Alex is something being wrong and him not being able to tell us. Last June he had strep, no fever, was eating, no rash, just an occasional throw up, which wasnt comletely abnormal. I finally took him to the doctor because I could tell something was just off, and he had strep, and probably had it for almost a week. Poor guy. I HATE that they cant tell us when something is wrong. It is frightening to say the least. THinking of you and your smurf!

  3. Sounds like he's telling you to use ice cream more for therapy!

    Have his eyes been checked for high pressure (glaucoma)? I didn't realize, but that can cause a headache...Jessica Armstrong mentioned it, because both Rachel and Natalie are being followed for high pressure in their eyes. I'm so sorry you don't have an idea...the other thing I would rule out would be an ear infection.

  4. Yes...more sweets! We are so not the sweet kind of family for our young ones, but we were told to use suckers and small amounts of sugary things to help with feeding. It has something to do with where the taste buds are which causes them to close their mouths.

    Also, have you had an upper GI to see if his intestines could possibly be malrotated? This can cause severe pain from time to time (especially when food tries to move through) and would need correction if it was malrotated. I know several little RTS sweeties lately that have had this (including Nathan).

    My best to you as you keep traveling this journey of unknowns.

    I adore your little smurf's makes me smile EVERY time!