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)

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 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 between trying to sidestep Sam's still ongoing target practice, with my face being the bull's eye! *Oh Happy Days....Oh Happy Days*


  1. You are doing an amazing job with Sam, he has the best mother in the world. Thank you xox

  2. Now that is what you call one very wonderful husband and yes I agree Sam is a lucky little chap to have such an amazing Mum