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, March 9, 2015

Celebrate Rare Disease Day? Yes please.

Oooooohhhh...that word again! And I don't mean the "r" word, which has recently also had its annual "Spread-the-word-to-end-the-word" Awareness Day. Nope, my views on the r-word are so sophisticated and insightful that I dare not share it here. Oh, what the heck. Here it is...
If you use the r-word in an even-remotely derogatory manner - you are a jackass!
Yip, that's about it really. I mean seriously, it's been ages since I've even heard a doctor use the word retard/retarded in a medical context.
I am actually referring to the word "Disease" which accompanies the annual awareness day for rare diseases. To be completely honest, I don't personally view Rubinstein-Taybi Syndrome as a disease or my child, who is effected by RTS, as being sickly. But firstly, many of the conditions related to RTS could well be classified as a disease and secondly, and most importantly, the occasion is not actually focussed on "disease" but rather on "rare". Had I been the one to take the initiative, to do the ground work to make the 28th of February an official awareness day, to spend days...weeks...months prior to the 28th February marketing and sharing the importance of having such an awareness day then sure, I might certainly have called it Rare Condition Day or something similar. But it was not me doing all the effort from behind the scenes, so instead of criticising a mere discrepancy with regards to terminology, I choose instead to ride on the wave of awareness to enlighten others about the syndrome which effects my son. 
Just as a bit of useless info though...the definition of disease :
"A disorder of structure or function in a human, animal or plant, especially one that produces specific symptoms or that affects a specific location and is not simply a direct result of physical injury"
To learn more about Rubinstein-Taybi Syndrome, please visit the official Rubinstein-Taybi Syndrome Website
To celebrate Rare Disease Day this year, we joined the Daniel and Friends Fund for a super, fun-filled morning...

No comments:

Post a Comment