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)

Saturday, December 3, 2016


Woo Hoo! A blog post! This is like, sixth one for the year! Really quite pitiful, if I do say so myself, especially as there are so very many things going on in the Lil Flappy Dude's life that I could probably easily blog every day. 

Where should we start....let's start with some of the not-so-fabulous stuff and, as always, end off with the good stuff. 

Teeth! Teeth? Yes, really...teeth. Of all the issues we'd prepared to deal with when Sam was diagnosed with Rubinstein-Taybi Syndrome I not once expected TEETH to be such an issue.  What the doc should have said when giving us the low-down on RTS was "Child will have walking issues, feeding issues, breathing issues, sensory issues, spinal cord issues, testicle issues, speech issues, orthopaedic issues, digestive issues BUT out of ALL OF THOSE issues....the one which will challenge you the most is TEETH!!" Okay, I'm being a little melodramatic...which is completely out of character...but still.  So we were nearing the end of the three months we had to wait to see what that little talon cusp was going to do and were thankful that the area around the talon cusp had seemed to settle (after lots of infection and inflammation) when a couple of weeks ago Sam started refusing to eat and drink again.  I thought it was just another round of irritation so had a look inside Sam's mouth and was not too happy to see another talon cusp coming through.  Another three-month wait here we come.  With (I think) most of the Rubinstein-Taybi kiddos having developed talon cusps, the issue itself is not anywhere close to being considered medically "serious" or anything like that, but it's all the spin-offs from this "small" issue which are really quite frustrating. 

As always, Sam's first line of defence is to throw some hectic oral sensory aversion at me and refuse to eat or drink...a little annoying but, oh, we've done our time with this stunt and it eventually comes right.  The more worrying problem is that he steps his teeth-grinding up a level or ten.  We've already had to cut the remains of one ground-down tooth out of his gum which caused the subsequent adult tooth to come out sort of in the front of the gum as opposed to out the bottom of the gum because it could not break through the area which had been stitched closed after the procedure.  Now, with there being more irritation in his mouth, Sam has managed to completely grind down yet another tooth into the gum and has another two, mere days away from going the same way.  I get that Sam's REALLY into doing things a little different (because after all DIFFERENT IS COOL!) and I'm really into embracing all that funky difference. But every now and again maybe doing one or two things in the normal just having your teeth come through the right spot in the gum...would be quite fab. 

Funny story though...when we were done with our most recent sensory-instigated fast, the lil dude decided that he was done with pureed foods. Yay!! Of course, we've been here before, but this time it really is looking promising.  We last had pureed food a little more than a week ago ("we"?...because I make a habit of eating pureed food?) and have done really great with sliced beef and chicken, just the minced meat remains a very expressive no-no.  So the meat might have been cut up really small. Like REALLY to about what I'd imagine an ant's portion would be. But still, progress is progress so it most definitely counts.  Only time will tell how long we will be doing ant portions of food though because Sam's sensory issues and digestive issues are not usually keen on parallel progress...but here's hoping!

Random funny story...Sam watches a bit of tv in the morning when he wakes up so that I can try get all the morning tasks seen to.  If Sam has not woken up by a certain time, I usually put a movie on (always Teletubbies Bedtime where Alex sings "Wake up sleepy head"...pretty cute hey?) quite loudly, but on the odd occasion that Sam wakes up before that, he sticks his hands out from under the blanket and before even opening his eyes will sign whichever movie he wants to watch...and it's never Teletubbies Bedtime. You sort of have to see it to appreciate it, but basically he'll be lying dead still (which generally only happens from about 5am onwards) and all of a sudden two little hands will frantically pop up and sign the desired dvd in an exaggerated and very cheeky way...which is so odd, because our lil flappy dude is NEVER cheeky (*exaggerated eyeroll).

Seeing as we're currently into all things -free (puree-free...sleep-free) we decided to have another shot at nappy-free...or as close to that as we can get.  WARNING : POTTY-TALK TO FOLLOW! Previous attempts have been a bit tricky.  While you can get Sam to pee on demand, he doesn't quite seem to grasp the concept of telling you when he has the need to go (there had been a degree of damage to his bladder prior to the spinal cord surgery but there was almost a remarkable improvement after the surgery which in my layman's mind would say that Sam should recognise the "urge" to pee, but specialists' opinions seem unclear).  This might not seem terribly problematic but when attempting to potty train the last time, we found ourselves in a situation where Sam would only urinate when I took him to the toilet, he just refused to pee in a nappy.  The challenge with this is that he freaks out when sitting on the toilet, so he needs to stand...which would ordinarily not be an issue...except that the lil dude obviously cannot stand unassisted.  So I land up supporting him, which leaves those little funky hands free to roam the toilet. Eeeeek! At home this is thankfully a little less of an Eeeeek! but this method of peeing means that Sam using a public toilet is not an option.  The tricky part comes in when you're doing a four-hour trip to Stilbaai and the dude won't pee in his nappy and cannot use a public toilet. You see? Tricky indeed.  Luckily I spotted this nifty little item on Facebook recently...

...and we're giving it a go...and a rather successful go at that.  We've gone days where Sam has only used one nappy the entire day and he seems to have gotten over the idea that he cannot alternate between nappy and toilet (even though it was actually pretty awesome that that was his mindset).  The only minor obstacle here is that I haven't quite yet figured out how I'm going to go about sticking little green, froggy urinals in every public bathroom we might ever need to visit in the greater Cape Town area.  It's a little all over the place for now but it's a start (again) awfully tricky start...but a start nevertheless.

And we're almost on to the really good stuff (nay...awesome stuff).  Last bit of trickiness comes in with those funky little feet.  After acquiring some rather entertaining physical issues (a hip which keeps clicking out...a knobbly-thingy protruding from my neck...and and) I thought it might be best to stop carrying our 25kg's of smurfiness around.  Understandably the lil dude was not too excited about having to abandon his go-to mode of transport, being mom's hip, but now seems quite keen to walk into school (assisted of course) in the mornings...unless we are late (which, ahem, almost NEVER happens) then hip it remains.  So, lil dude is keen to 'walk' and mom is keen to have something vaguely resembling an aligned body back at some stage - it all sounds pretty peachy.  Which it is.  Except for these uniquely-designed little feet :

While it's pretty awesome to see how steadily more confident Sam is becoming on his feet, it's a little worrying that these little feet seem to get more funky by the day.  Sam is not very keen on walking with his AFO's on, but walking without them seems to be worsening both the Hallux Varus in the left foot and the over-pronation in the right foot. So, the problem - Sam needs to walk.  Sam does not want to walk with AFO's. Sam's feet are thus becoming more funky.  The solution? I am clueless. For now. 

And on that terribly constructive's the AWESOME!

My precious little, triple-diagnosed, previously deemed "ineducable" and only worthy of "a place to put him so I could go on with my life" flappy dude took part in his FIRST EVER school concert.  This mama's heart near exploded with pride and awe as I watched him...what an incredible kid! What an incredible inspiration! What an incredible school for being able to recognise the potential which lay hidden in the non-verbal, sensory-dominated labyrinth in which Sam waited to be discovered.  Thankfully though, before I could embarrass myself by turning into a blobbering mushy mess, my not-so-little-anymore very flappy and terribly cheeky dude decided to throw a Sam-spin on things...see for yourself xxx

Sunday, October 30, 2016

An abundance of FIRSTS!

Sam's very first school term (semester) has come and gone..hard to believe that it's been more than three months since I sent Sam's tutor dismal messages about not being able to find the 'right' carer for Sam, which would prevent him from starting the term with every one else just five days later.  Yet here we are several classwork activities, one progress report and a very-first parent/teacher meeting later. I still find myself occasionally bordering on disbelief at the unexpectedly painless transition from homeschooled to classroom for Sam...if I've said it once, I've said it a million times...this is just not how I expected things to go. But, have no doubt, there are no complaints about avoiding the resistance I anticipated.

It was incredibly emotional opening Sam's bag up at the end of the term to his report and classwork books, sent home for review.  Sam thoroughly enjoyed going through his school books with me and pointing out the activities which were obvious favourites :

As was expected I guess, Sam's immune system did take a bit of a knock and we had a bit more of a troublesome Winter this time round (bar our fab run in with Rotovirus last year).  Thankfully we've stuck mainly to URTI's and a coupla bouts of croup (although pretty resistant bouts) which is hardly anything to really complain about.  

There have been some other unrelated 'bumps' as far as health goes...a few petit mal seizures (which were accompanied by an uncharacteristically sleepy Sam), the hallux varus in Sam's left foot seems to be worsening at an alarming rate and, just to make sure we're covering as many areas as possible, Sam has two fabulous talon cusps sprouting in that already-funky little jaw of his.

The petit mal seizures seemed to have righted themselves and the.most.painless.blood tests.EVER confirmed that Sam's Epilum levels are spot on. And yes, I can say that Sam having his blood drawn was painless on his behalf because we went into the pathologists late one evening (which should only have made the process more traumatic with Sam not liking his evening routine disrupted), wrapped Sam up tight in a blanket to help get a grip on his (usually) pretty powerful struggling and mentally prepared ourselves for the auditory onslaught which would undoubtedly be assaulting our ears.  And yet, although the lil flappy dude was shaking with fear, the needle went in with ease (after a few iffy attempts at locating a vein which is almost always impossible and something we seldom do without anaesthesia) and almost instantly the blood flowed into the tube. And that was that...not a peep, not a tear.  The sleepiness largely seems to have righted itself as well, with the exception of one or two random incidents last week.  Sam's iron levels came back a little high (just over double what they should be) which was a little unexpected for a kid whose diet consists mainly of gluten-free pasta and he seems to be struggling to regulate his body temperature more than ever before, particularly at night and in the mornings despite usually having on a least one extra layer of clothing than what everyone else has. We eagerly await the new 'medical' year so that we can run a few tests to make sure that there is nothing ominous going on with Sam's pituitary gland.

With 'firsts' being the order of the day...month for that matter...there have been a few more surprises. After struggling to get Sam to tolerate any other liquid other than warm Pediasure, Sam now manages about 100ml of juice from a squeeze bottle when at school! (And, yes, he of course refuses it at home).  About a week ago while sitting on the couch reading with him one afternoon, Sam asked me to put his specs on. Sam ASKED to have his specs on!! The very same specs which over the last 7/8 months get flung violently across the room the second they come within arm's reach. So last week I sent the specs to school with Sam's carer, Leeanne, and asked her to just try and put them on for short periods of Friday not only had Sam asked for them again, but had kept them on practically the whole day.  While I am a little worried that Sam's eyesight possibly deteriorating may be the cause of his sudden eagerness to wear the specs, on a positive note (other than the obvious YAY for wearing them) it makes me think that Sam is so keen to soak up as much as what he can from his activities at school that he's prepared to do the necessary in order to learn more, which in turn means that he was able to quite effectively REASON through the situation. Not too shabby for an ineducable lil flappy dude hey? 

Amongst an overwhelming number of things to be thankful for during this unexpected, yet very welcome, twist to Sam's journey comes one 'tiny' regression and that being that Sam has effectively decided that life from here on forward shall consist solely of home and school!  There shall be zero tolerance for any deviation from the, now, extremely limited scope of accepted social activities. There was a short, one-week school break a few weeks ago and already on the Saturday after school closed (on the Friday) Sam was signing "school". By the Thursday I was about ready to go deposit him outside the school gate in anticipation of the Monday's return to 'normal'.  The fact that we live 3 minutes away and drive passed the school regularly, does not help at all...LOL! So yeah, the lil flappy dude is not currently in the running for social butterfly of the year but it's an extremely small price to pay for the peace of mind that comes with knowing that he's exactly where he's meant to be.

One of Sam's Spring class activities

And a fabulous looking snowman indeed

Another 'first'...yes, that's shaving cream!

Thursday, September 1, 2016

Are We There Yet?

Okay....are we okay yet?
The first five years are the most challenging...after that, everything seems to settle and you'll be of the most regularly-shared reassurances we were offered during those first years.  Gosh...Year 5 became my desperately sought-after utopia, if only we could make it to that benchmark, then we'd be OKAY!
Except...we didn't get okay! Instead we got Belgium and Belgium was pretty sucky as it came in the form of an additional diagnosis, Cerebral Palsy. That is just so not how it was supposed to go.  Initial diagnosis at birth - Rubinstein-Taybi Syndrome. Great, got speaking, feeding issues, ineducable...blah blah blah. Or so according to Sam's (then) paediatrician.  So, shatter all dreams for your littlie and try and just get through each day at a time...and literally at that stage because the little dude wasn't quite sure he wanted to do this whole ventilation-less breathing thing or leave his entertaining game of musical incubators in the NICU so for the first few weeks, each time entering the NICU was accompanied by crushing waves of nausea and fear about whether Sam had managed to make it through the night without slipping back to High Care.  But then we linked up with other parents of RTS kiddos...parents who were a more accurate and encouraging source of information and support than any medical journal and/or individual divulging said information...and we discovered okay, where children with RTS DID in fact thrive and learn and communicate (perhaps not verbally) and went to school and were so very educable.  So...kept the eyes focused on that five year mark and bulldozed ahead through therapies and surgeries and doctors' appointments and regressions and illness and and and...because at the end of all those draining challenges was our okay.  Except, literally days before our five year mark, our okay got ever-so-slightly crushed with the results of an MRI which explained why Sam was not yet quite achieving milestones other RTS peers had by his age. 
I think I kind of gave up on okay.  I certainly was not going to go setting new benchmarks because the tricky combination of Sam's diagnoses (Yeah, we got to officially throw Autism in there as well) meant we no longer had a clear guide as to what to expect when, with no similarly effected children to draw measure from.  So, benchmarks are just not our thing it seems.  I felt kind of lost.  Actually, I felt very lost.  There was no longer a plan with a somewhat defined goal.  We were goal-less.  Goal-less is not great I tell you, it can suck the motivation and spirit to keep going right out of you.  So we threw goals out the window and just went with whatever was working for Sam at that moment.  And, at that stage, it was one-on-one tutoring with as little social interaction or change of routine as possible.  And that worked really well, for a while. 
But by mid-way through last year things changed.  With no experience in teaching and/or educational guidance whatsoever, I ran out of stimulating things to challenge Sam with...and he became extremely bored with the work I was doing with him.  Aggravating the situation more was the disruption of our every day routine after I joined the Danniel and Friends Fund and while I was revelling in having something so exciting to throw myself into, Sam was doing just the opposite.  Still, there were no schools which I felt were adequately able to withdraw the immense potential lurking beneath the lil flappy dude's packaging and so homeschooling it stayed. 
And then 2016 happened :
Where Sam finally overcame his fear of sitting on unfamiliar objects
and ventured onto a (for all intents and purposes) "Mickey Mouse"
one Sunday morning...granted after much coaxing from Dad.

And the newfound courage to try new things lingered a little longer.
And we added a member to our family - Chipolata aka "Chippy"
who first caused incredible disruption in our home as Sam battled
with the idea of having his place of comfort so vigorously invaded
by this not-so-welcome addition.  But before long, the two had bonded
and now every day upon arriving home from school, Sam first spends
a few mins with Chippy (who, if he was human, would most definitely
be just as flappy a dude as Sam) offering his hand to Chippy for some
crazy-affectionate licking and nibbling.  
Um...did you spot it...THAT!
At the beginning of the year Sam and I started attending one-on-tutoring sessions at a newly opened school closeby, Edu-Play.  The sessions went extremely well. Sam completely soaked up what was being shared with him as the activities were being tailored specifically to Sam's style of learning and the patient, accepting and genuinely caring atmosphere of the facility made Sam feel comfortable and safe.  At the end of the second term, Sam's tutor, Carlyn, suggested finding a carer/facilitator for Sam and enrolling Sam in fulltime classes.  Neither my mind nor my heart could work my way around the idea.  I'd given up on the idea that Sam would ever do something as "normal" as go to school, especially here in South Africa where not only are schools for differently-abled children limited, but schools which can cater for as unique a combination of diagnoses as Sam's are very nearly non-existent. Even as I started the process of trying to find the right carer for Sam, I don't think I ever really considered it becoming a reality.  And it almost didn't.  Finding a carer for Sam proved more tricky than I'd anticipated and it was literally two school days before Sam was meant to start that Leeanne happened upon our little flappy dude. 
So, on the 18th July 2016 I drove Sam and Leeanne to school for the very first time.  To be able to indulge in an activity so normal and taken for granted by so many others, is without words.  Sam's unexpectedly comfortable transition into his new routine still has me a little surprised, but reassured that he is happy.  As Sam nears the end of his seventh week in school, the novelty of each trip to and from school remains.  Over the passed couple of weeks Sam has been trying desperately to communicate more, becoming extremely frustrated when I am not able to fathom the signs he has resigned to making up himself when I do not grasp what he is trying to say.  It is a frustrating process, but also an encouraging one which I am sure can be built on to try and shape a way forward for some form of effective communication medium for Sam.  Being the only child in the school who is not able to walk, Sam has also started taking one or two steps on his own, although he is still extremely fearful and cautious.  On several occasions now he has stood completely independently to be able to use both hands to sign to me.  There was a nasty fall that happened a few weeks ago with one such incident, but the anticipated regression which would usually come with such a fall was short-lived and seemingly quickly forgotten.  The extent of Sam's progress over the last month-and-a-half is something I would simply not have imagined and without a doubt I know that Sam is where he is supposed to be right now, tapping into yet-to-be-discovered potential.  It makes my mama heart burst with pride.  And as I read the daily reports about what Sam has done at school, look at pictures of his daily activities and still occasionally glance over Sam's very first Playball report, unpack his lunchbox and prep his schoolbag for the next day I sigh and dare for a moment to entertain the idea that I think we have finally made it to okay.  



Saturday, April 9, 2016

Shame, Superheroes and Acceptance

Wow! Just over two months since I last blogged! Hangs head in shame.
What's been happening here in Smurfville? I think I would need to be able to make some sort of sense of it all myself to be able to communicate it in a way that would in turn have it make sense to someone else. But I don't. So I can't.
Again, no major life-threatening matters clouding our skies nor anything which most would consider detrimental to one's quality of life, but yet they are issues which are just that...
Sam's eating issues are still erratic and perplexing, yet thankfully there has been some improvement this week.  For a long while he became so resistant to food that not only would he refuse eating it himself but would act out against anyone who was eating near him. This week, for the first time in months he asked for what used to be one of his favourite snacks - mini Marie biscuits. He did throw the bowl, contents and all, after two biscuits but it was a start. The next day Sam ate almost half of my toasted sarmie and seems to be back on track with eating again, which would've been great if we hadn't simply traded eating issues with drinking issues.
As those who know Sam personally are aware, he has a major sensory aversion to moving liquid of any kind...a water-hose running, water moving/splashing behind him in the bath and, always most entertaining, liquid in a bottle. Yes, at almost 7 years of age, Sam still drinks from a bottle...for two reasons :
Firstly, his oral defensiveness is so severe that trying to manoeuvre anything else besides his Avent teat passed his lips is a no-go. Also, he never closes his mouth around anything besides the it a straw, pump bottle, cup...whatever.
Secondly, Sam never had and still doesn't seem seem to have a natural swallow reflex, so even if you did manage to get him to close his mouth around a spout or whatever, he would more than likely choke on whatever liquid I'd managed to get into his mouth. Even after 6+ years on a bottle, he still sometimes chokes or somehow manages to get the milk up his nose, especially when I've tried to thin the Pediasure a little to try dilute some of those calories.
So warm Pediasure from a bottle has been his only form of hydration for many years. And still, Sam has never been 100% comfortable with even the bottle. A minimum of 5 bottles a day, every day, for the last almost-three years (because it took him 4 years to conquer enough sensory issues to simply touch the bottle) was met with the same process...the bottle would be handed to Sam (always at the precise temperature) and Sam would hold the bottle to his mouth and mentally prepare himself for having the liquid in his mouth. You think I'm exaggerating...being a little melodramatic perhaps? Close friends and family know the process well and have even joked good-naturedly that it looks as if Sam is first praying for his milk.
Despite there being some regression with the whole drinking thing, it has brought with it an unexpected benefit. While I can live with the refusal to eat, with Pediasure providing more than ample nutrition for it not to be anything more than a little disappointment at another step back, not drinking as well had me worried to the point of desperation. When pouring Pediasure into the lil dude's mouth from a cup/bottle lid resulted in such bad chokes that the milk would eventually spew from his nose, not to mention the amount of Pediasure which was being wasted as it poured from his never-closing mouth, it was time for some tough the way of a Winnie The Pooh squeeze bottle. Granted there is no contact between lil dude lips and the bottle, but squeezing the milk in sure is a whole lot less messy and after a nasty choke or two, Sam seems to accept the squeeze bottle as a means of drinking and even seems less fussy about the temperature of the milk so big YEAH for not having to carry flasks of boiling water and a jug everywhere with us.
As it turns out, Sam's teeth seem to have been the problem with the drinking issue. His adult teeth push through before the baby ones fall out so in two separate places there were two teeth in one socket and I could actually hear the teeth grinding against each other when he drank, causing (I'm sure) the most horrific sensory repulsion. Since the one tooth has now fallen out (and escaped into the Bermuda Triangle that be the lil dude's digestive system...pretty much like every other tooth he's lost naturally) and the second loose tooth is slanting at an odd angle, drinking over the last 24hrs has been almost back to normal except that Sam will not place the bottle in his mouth himself...almost as if he doesn't trust himself to do it without creating that awful grinding again.
A re-visited challenge we're finding probably the most difficult is travelling. Sam has always been terrified of being in a car, but was least anxious when in my car with the most challenging part having been getting him into the car. Often there were frantic handfuls of hair grasped...little nails tearing at arms and neck when the 2 second manoeuvre to settle him into his carseat would require an ever-so-slight backwards tilting. But once strapped in, he would settle down quickly and that was the end of the panic. Recently though, when we've needed to travel as a group to a meeting or the like, I've had to put his carseat into a friend's car...which of course would not only result in the most aggressive car transitioning but a lil dude so panicked that his white-knuckled hands would not let go of the arms of his carseat, back arched in super-defensive extension and breathing happening in short, shaky gasps...even though I was sitting next to him providing deep-pressure comfort across his torso. Obviously I did this once too often because gone is the comfort he found only in my car and instead each and every trip we've made over the last couple of weeks has been reacted to as if in a strange car. It's fairly exhausting and any effort in the way of tidy hairdo's is destroyed within seconds of trying to get Sam into my car, replaced instead with what leaves me looking like I've been involved in the most heated of cat fights, with random loops of hair gone astray from my once-tidy ponytail and scrawly scratches for extra affect. Of course there's an upside...I've often joked that even if I won the lottery and could afford the most extravagant of vehicles, my little red tjok-tjorrie would still have to make do...but hey, now that the comfort once associated with that little red tjok-tjorrie is gone, there could be no more perfect time for an extravagant vehicle. Now to see about that lottery ticket....LOL!
It's too easy to become frustrated, impatient and despondent when facing some of Sam's challenges.  But can you imagine spending 90% of your life captive to one fear or another? Simply trying to create an idea of what it might be like lends me the confidence to say that I would not have managed to overcome many of the issues Sam whether we're screeching like a loon in the middle of a shop,  nearly suffocating ourselves with the fear that goes with being in a car lately or diving face-first into a bath full of water because a ripple of water moved behind us...Sam remains my SUPERHERO!
April is Autism Awareness month and while Autism is just one of Sam's three diagnoses (together with Rubinstein-Taybi Syndrome and Cerebral Palsy-Periventricular Leukomalacia) it has, for some time, been the condition we struggle with the most as it is predominantly responsible for creating the challenges we battle when dealing with what should otherwise be simple day-to-day tasks...and so we are as passionate about raising awareness for Autism, as for the other two conditions.  Having said that, Sam's t-shirt sort of sums it up...

Sunday, February 7, 2016


Gone, thankfully, are the days of hauling out cryptic map books when searching for never-been-there-before locations. Nowadays we jam on our GPS of choice or, if you're like me, Google Map every place before the time, preferably with a streetview, so that you can memorise all surrounding street names (just in case) and even a "landmark" or two. While I've not yet needed to purchase a GPS of the conventional kind, I am privileged to be accompanied on each trip by a location-finder of sorts anyway. Fabulously impressed that my particular GPS is spared the usual mechanical, insufferably-monotoned verbal directions, opting instead for charming grunts, excited gestures and warning screeches when necessary, the only snag is the rather limited choice of destinations (exactly two in total) and just as limited routes thereto. The you're-heading-in-the-incorrect-direction alarm could also benefit from a volume button or, even better, simply a MUTE button, particularly when attempting to make which is nothing more than a 200 metre detour in order to take care of the concerning petrol light results in such extreme protesting that you look worriedly passed the light, take a breath and hope that there are sufficient fumes to carry you and said screeching GPS home.

This little dude...always an enigma with his odd Sammerisms. Almost as enigmatic is his exceptionally accurate knack for remembering the makes of cars and who drives what. Every car trip, even while ensuring we are travelling his preferred route, is spent scanning the roads and pointing out every make of car he recognises. Different colours don't confuse him, so its the model of the car Sam's actualling taking note of and then excitedly gesturing whether it's Daddy's car, Nina or Lisa's car, etc. With mind-boggling perception Sam will notice a car whisk briefly across the road, even from a surprising distance. It's really quite intriguing.

Unfortunately we received some not-so intriguing news on Monday regarding Sam's vision. With Juvenile Glaucoma being linked to Rubinstein-Taybi Syndrome, for the first few years of life Sam underwent six-monthly Glaucoma examinations under anaesthetic, as the Opthalmologist we were seeing felt that Sam tolerating the examination simply in his consulting rooms was highly unlikely. Luckily (?) as Sam was having surgeries almost every six months at that stage, finding theatre time to couple the examination with was never a problem as having Sam undergo anaesthetic simply for a 5 minute exam was also not ideal.  However, the only surgery Sam has had over the last two-and-a-half years was done with less than 24-hrs notice which was just not enough time to bring an Opthalmologist on board.

Concern growing with each passed examination-less month and Sam seeming to have lost interest in reading flashcards and books like he used to and even becoming a little agitated when I tried, I decided to make an appointment with a local Opthalmologist to discuss going ahead with the examination in theatre, even if it had to be a 'wasted' anaesthetic. When we arrived at the rooms, the receptionist asked what we were needing to be done and when I replied that I was wanting to make arrangements for the Glaucoma examination, she walked over with some eyedrops to dilate Sam's pupils. I laughed and told her not to worry as there was no way Sam was going to sit calmly through it. She suggested we try some drops just in case...and what a worthwhile suggestion it was. Sam did awesome through the examination, scan of the optic nerve and the tonometer. The great news is that there are no signs of glaucoma. The not-so-great news is that Sam is considerably visually impaired and should have been wearing specs years ago already to make the most of the limited time during which your eyesight develops. With vision teaching optimum development around 8/9 years of age, Sam's been robbed of some much-needed time. So specs have been fitted and once the apparently fairly thick lenses have been fitted, we'll dash down to collect so that not a second more is wasted.

Besides helping with his vision, Sam's physiotherapist is hopeful that being able to see better will increase Sam's potential to walk unassisted as he'll be able to more accurately judge the distance between himself and, for example, furniture.

A sneak preview...Sam quite happily tolerated the specs but there's quite a difference between keeping them on for 10 minutes compared to 10 hours.

Wednesday, January 6, 2016

Celebrations Re-visited

Six days into 2016 already! Wow! I so planned an end-of-year, this-is-where-we're-at post. Guess we're doing a beginning-of-new-year, this-is-where-we're-at post instead.

Festive-Season plans were kept on the subdued side this year as Sam was scheduled for a Tonsillectomy on the 15th and the ENT doc had told us to prepare for a pretty hellish two weeks of recovery. And what would Christmas be without a surgery/illness anyway, right? Christmas 2010 we did Spinal Cord surgery on the 20th December and since then some-or-other bug each and every year.

On the 14th December (having finally made peace that removing Sam's tonsils was the only way to go and keen to just get it over and done with) we had a consult with Doc ENT, who had last seen Sam in October, to a) run through the final details for the following day's surgery and b) check that Sam was good to go for theatre and, more importantly, anaesthesia. After an extremely thorough examination Doc ENT concluded that he could not be certain that Sam's tonsils were the cause of us not having had a decent night's sleep in the last six week. Yes, he reasoned, the tonsils are enlarged but not barely close to what is referred to as "kissing tonsils" which is when the tonsils are so large that they actually touch (can you imagine?). Sam's greatest breathing issues come from having an extremely deviated septum in the right nostril which is almost completely obstructed (so much so that when I spray Sam's nose he has to lie on his back to allow the little pool of liquid to slowly drip passed the septum) and the common RTS floppy airway. Doc ENT advised that there are usually only two reasons why tonsils should be removed...significant airway obstruction and repeated tonsillitis (more than twice in a twelve month period). Already confident that removing the tonsils was not going to make a worthy difference to Sam's quality of sleep (which was our main objective) and with Sam last having had tonsillitis about 4 years ago, he was not 100% comfortable with going ahead with the Tonsillectomy and presented it in a pretty convincing argument, saying that should there be any complications and he was to land up in a Court with questionable motivation for having performed the procedure, there would not be sufficient medical background to substantiate his decision. scrapped for now!

Doc ENT did refer me to a dietician as he feels we are not managing Sam's reflux as efficiently as possible and this is in fact what is causing the constant irritation in Sam's throat. He suggested trying to get Sam off pureed foods completely and as quickly as possible as the absence of chewing (which stimulates the production of digestive enzymes) aggravates reflux and also suggested a completely dairy-free diet. Yikes! A tall order for a kid with extreme sensory challenges whose diet consists purely of pureed meat and veg, cheese, yoghurt and the occasional mushy mac and cheese. Oh well...what were we to do but give it a go. Doc ENT feels that with an adequate lifestyle-change regarding Sam's eating habits, his reflux should be so efficiently managed that medication should no longer be necessary.

For 13 consecutive days (starting immediately on the 14th)  the Lil Smurfy Dude ate all things un-pureed...WHOOP! WHOOP! Chicken and even beef finely cut up and mixed with veggies and couscous was a HUGE thumbs-up. And then? He stopped as quickly as he'd started and we were back to pureed foods. Well, actually at this point, we're back to NO food as its been almost a week of him refusing to eat anything at all! Talk about from one extreme to the next...special needs parenting is most certainly just that...EXTREME!

Sam's adult front tooth (the baby one which he ground down into the gum which then had to be cut out in theatre) has been struggling to come through for some time now, you can see it sitting there in all its toothy glory just under the gum. It just can't seem to break through the gum, possibly because that section of gum was sutured up as opposed to having a "gap" where ordinarily the baby tooth would have fallen out. So that could quite possibly be the cause of his not wanting to eat. Sam does also have a bit of a crampy tummy-thing going on so perhaps even a bug in the brew...who knows? But even if it is a bug, the 6th of January is most definitely not considered "Christmas-time" still (just smile and nod, okay) so...YEAH!!! for our first illness/surgery-free Christmas in five years. Ah, as they say, celebrate the small things!

Aaaaand...another hidden blessing of special needs parenting...some time in the future we are going to get to celebrate Sam tolerating un-pureed food again (this was like the third time already LOL!) Just like we are going to get to celebrate him taking one or two unassisted steps again. What could be sweeter than living those precious moments more than once? And each time is as awesome as the first :)

Ooooooh...talking about celebrating...we have finally managed one other liquid other than warm Pediasure out of a bottle (right through the sweltering heat of Summer usually) and it be litchi juice out of a juice box! Fair enough Sam isn't so much sucking on the straw (or even closing his mouth on it) as what I am squeeezing the juice into his mouth, but's juice...out of something other than a counts ( and nod).

Happy New Year everyone...may it be a Blessed and prosperous one for us all xxx