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, September 23, 2010

Mission MRI loooooooong last

It really was a case of "third time lucky" for us, after unsuccessfully attempting two previous MRI's (all Sam's doing I'm afraid...or rather, that of the germs which insistently invade his little body), Sam was finally scanned yesterday afternoon just before 4:00pm. It was touch and go for a few hours as our time slot first changed from 08:00am to 09:00am and then from 09:00am to 3:00pm as the MRI unit battled with a staff shortage but we eventually made it in at about 3:45pm, although at one stage it looked like they were going to move us again. We are truly blessed though to have a wonderful friend, Adele, who also happens to work at the MRI unit and who went out of her way to make sure Sam was done. Sam did really well considering by that time he had been without milk or food since 8:45am and really only started complaining round about 2:00pm. Thankfully the anaesthetist we had especially requested come out from Red Cross Childrens' Hospital to do Sam's anaesthetic was so accommodating and understanding and even though it meant a great deal of his afternoon was wasted, he stayed until the MRI unit were ready for us.

The actual scanning and anaesthetics went really well and its an awesome relief to know that Sam does not, at this point, seem to have any sensitivities to anaesthetic as, considering the MRI results, there's the possibility of another surgery in the near future - Sam's scan came back "highly suggestive of a tethered cord due to the abnormally low-lying conus at the level of L3 inferior endplate" (huh?). The second I heard "low-lying" instead of something implying, undoubtedly, that Sam has a tethered spinal cord my mind went into overdrive and I excitedly explained to Dr B that there had recently been loads of e-mails on the RTS listserv about MRI's and TSC and that, if I remember correctly, the crunch of it was that a low-lying cord is not necessarily a tethered one. Well, apparently (Surprise! Surprise!), I had NOT remembered correctly because as soon as we got our exhausted, yet-again-traumatised, dehydrated and starving child settled enough to fall asleep last night I went through all my saved mails as well as the RTS Blue Book's info and what the majority of the correspondence actually says is that in children with RTS, a low-lying cord is usually indicative of a TSC and treated so, ie. surgery.

So, our plan of action is to meet with at least two neurosurgeons so that we can make a completely informed decision about whether we opt for surgery or choose to wait it out a little while longer, whichever one of those decisions is in Samuel's best interest. I must say that I was really quite surprised at how unsettled he was yesterday in the ward. I mean, let's not pretend, Sam has a definite aversion to any person whose title begins with "Dr" or "Sr" or any place where these folk can be found...but poor Sister Marleen (she's the one in whose mouth Sam was merrily mining away when he was last in for kidney & chest infection) couldn't even put his nameband on his wrist - he became totally hysterical. So, I cannot imagine how well another hospital stay is going to go down with our young Smurf, especially if it involves something as horribly invasive as neuro-surgery. For now, until we have met with the neurosurgeons, we just pray...and pray...and pray. For what? That the MRI report was, somehow, incorrect? That the cord rectifies itself? No, although any or both of those would be wonderful, just that we can somehow avoid surgery for now without it having any kind of nasty repercussion for Sam in the way of pain/discomfort or further neurological delays.

Want to hear something quite funny though? I can't say I really gave the actual MRI result much thought through this whole process - my main source of anxiety was more the anaesthetic than the actual reason for Sam NEEDING the's like I never accepted the possibility that a TSC could be the case, or more profoundly, that Sam could have such an unquestionable "sign" that he has RTS. It's not the first time its happened and the first incident is just WAY more amusing. A few weeks ago, actually shortly after the RTS conference at the end of July, I was reading through some of the listserv's mail and it turned out many of our RTS sweeties have an indentation-type mark on their ears which many of us parents thought were unique to our own children until one person mentioned it (I think at the actual conference...I was just about to say If I remember correctly, but will rather not go there) and we all excitedly remarked how our sweeties also had it! Just after sending my "Sam has it too" e-mail I kind of slumped back in my chair and thought...well now it's unquestionable....Sam DEFINITELY has RTS! It wasn't the respiratory problems, particular facial features, feeding problems, high palate, huge red birthmark on his forehead, neurological delays or tiny wasn't the loads of hair, bowel problems, strabismus, severe reflux or extraordinarily angulated thumbs that convinced me...IT WAS THOSE DARN EAR INDENTATIONS! At least now I have a more "acceptable" account of the defining moment of our journey wherein I completely and undeniably accepted that I have a "differently abled" smurf!

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