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, April 29, 2013

A muchness of nothingness

Woo Hoo! A post! It's as much of a surprise to me as it is to you, believe me, what with the little smurf still recovering and all. Nope, not from his ENT procedure but from still being ill. Still? Yes! Still! I can't even remember how long it's been now since we last experienced the increasingly elusive state of (relative) good health. I think we're floating somewhere round five or six weeks already. I know Sam and I did a straight few weeks of not leaving the house once...not at all...not for a minute...not for a second. NADA. It was...uuhhh...interesting, for lack of a more blog-acceptable word.

We're still all snotty...and coughy...and tonsilly. "We" being Sam, although the fact that it effects our lives as much (although not in the same way) as Sam's, makes it a definite "We". I can tell you one thing we are NOT! And that is vomity! Want to know what makes that even more surprising? We are currently on Day 4 of an antibiotic. (Yes, another one).  Want to know how much of that antibiotic has been v-worded out? Not a drop...not a mil...not once....not at all. NADA. Why? Because for the first time in almost four years someone (who is always in-tune with Sam's sensory and v-word issues and generally goes by the name of Dr Paed) had the sense and expertise to prescripe an antibiotic for our little dude that comes in the form of a solutab. It dissolves instantly and has very little taste. At first, just to be safe, I camouflaged it in some yoghurt but yesterday simply mixed it in with his normal food and Sam polished it off without hesitation. Absolutely brilliant. #touchingwoodfrantically

And that's where we're at...which is nowhere at all really.  Dr Paed is uncertain whether, even though they're being a little troublesome lately, removing Sam's tonsils is a good idea at all.  Sam's really been struggling at night with this whole "floppy airway"' issue which many of his RTS siblings experience problems with.  Dr Paed is concerned that the tonsils are at least providing some sort of support at the moment, as warped a support as that may be, preventing the airways collapsing completely at night.  We've considered the option of doing a sleep study with painful care, but there is absolutely no way Sam will tolerate a sleep study right now. He barely tolerates me touching his face. CPAP's and the like are even less of an option.  So for now we trudge along, hoping that there might be some relief, in the way of no illness/germs, making its way to us some time in the near future.

Tuesday, April 2, 2013

Doing time...

...over the passed three weeks with a super feisty tummy virus x 2, a skew little foot x 1, skew septums x 2, consistently swollen set of tonsils x 1 and two very smurf-attached grommets has left considerably little time for blogging.

Well what do you know! If you lay it out all mathematical-like it almost makes all the recent blood, sweat and tears (and I do mean that literally) a little over-the-top. 

So first we had a rather gingerly visit from the tummy bug for a couple of days. Messed around fairly lightly with me but then moved on to a far more satisfying victim. Sam.  Wreaked a little havoc with Sam for a few days but then got bored so thought to its cruel self...hey, let's throw a little washed-out-mom-action in too. And, boy, did it floor me...for almost a day-and-a-half. And that's saying something for someone who was up washing bottles and cleaning house, adorned with gorgeously attractive nasal splints, less than twenty-four hours after my sinus surgery a while back. Then the darn thing eased off for a day or two from both Sam and I but then came back in with a vengeance for a second assault on little Sam's system as well. After a few days of even-more-than-usual throwing up and not eating, I took Sam off to the doc just to make sure there was no additional problems at play as well.  Turns out there was. He told me that Sam's ears were not looking too great and that his tonsils were very enlarged but, thankfully, not infected. I didn't worry too much about the tonsils because they are just "normally" enlarged but made an appointment with the ENT, especially as Sam has now taken to regularly bashing his ears with his fists.

Dr ENT confirmed that the grommet (tube) in Sam's left ear was pretty much free from the eardrum but was still sitting in the ear canal (where it still remains) and all he said about the right ear was "this is just not working at all".  He also said that Sam's right nasal passage is completely blocked due to a severely deviated septum (as a result of both genes and syndrome) and that his tonsils, although not infected, needed to come out because of their size.  Dr ENT was keen to do the surgery ASAP but because of an upcoming church camp this weekend, which we've been looking forward to for some time, we asked if we could hold off till round the 11th April.  However, the fact that Sam is extremely uncomfortable at the moment and only gets a relative amount of rest with the help of some Ibuprofen (which is so good for his tummy) we've decided to give the doc a call in the morning to chat about possibly doing it earlier, if still an option. 

From ears, throat and nose to some troubling little toes...which appear to have a mind of their own and are determined to keep that little left foot of Sam's a challenge.  We were hugely relieved last year when Dr Orthopaed advised that Sam would not be having his foot surgery mid-year after all as the foot seemed to be doing a considerable about of "straightening" all on its gorgeous little ownsome.  So we've been encouraging Sam to walk as much as possible (with his little walker of course) in the hope that lots of walking = more weight-bearing pressure = straighter foot. 

Because events over the passed (almost) four years have always run so smoothly and according-to-plan that a relatively normal outcome of this nature could be expected???

Instead of using the whole foot to balance, Sam is using just the front part (specifically the angulated big toe) to anchor and balance himself and in doing so is straining the inside foot muscles and completely neglecting the outside foot/leg muscles resulting in the foot returning to its orginal inward position.  Heidi suggested strapping the foot and leg for a few weeks with Kinesio Tape  which, at the time, sounded like a promising plan of action. We decided that a little Veet might be in order first as Sam has his fair share of hairy surfaces and decided to start applying the tape at the next physio session. On the way home from PT though I had vivid flashbacks of Sam sharing his entire stomach's contents with the pathology office at Vincent Pallotti last year after Doc Sinclair simply placed a tiny plaster over an equally tiny puncture wound after drawing some blood.  So contacted Dr Orthopaed instead to enquire whether an orthopaedic shoe/boot would not be an option instead. We have an appointment with him on 16 May for a re-evaluation of Sam's foot and to further discuss the way forward.  A little disappointing to be honest as I thought we'd pretty much conquered the foot issue :( and, be it a little different or not, it is such an adorable little foot.