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...
SAMUEL - COMPLETE IN GOD
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 happening....to 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)

Wednesday, July 18, 2012

Hallo World :)

Smurville has been somewhat busy over the last couple of weeks.  We took a short trip to Pearly Beach to spend a few days with Granny...


M & C - totally fed up with being couped up in the car...although their being couped up was largely due to the number of bags they dragged along filled with toys and Build-a-Bear clothes. 


Greeted by Pearly Beach with an awesomely warm and sunny afternoon...


...which means we were barely unpacked before we had to take a walk to the beach. Sam has developed an issue with having socks on his feet. Yes! In the middle of Winter.  So he kept M & C busy by randomly and sneakily throwing both his socks and shoes out the back of the pram.


Such a treat in Winter. And apparently the water was not THAT cold. Barely tolerating the cold sea water in the Summer, I simply took the girls' word for it.


Sam so not impressed with having to tolerate both sand and cold. Bet you he was regretting shedding those socks and shoes!


Day 2 unfortunately stayed overcast and rainy - but that wasn't enough to keep the girls from the beach.


Sam snug and safe behind his wind shield, listening to the iPod which was obviously playing Two Dickie Birds


Shortly after returning we, half uncertainly, signed a mandate to put our house on the market and then enjoyed the last few days of the school holidays with a lovely visit from Sam's RTS brother Matt and his family, a couple of playdates for Meg and just some at-home time....


...which Sam adored as having Meg at home all day meant fun games like Hoola-Hooping with his big sis :)


...lazy morning lie-ins with Dad just chilling and watching tv...


...and a new haircut!


Silly Giggley Smurf

Monday morning's back-to-school was a bit tough for Sam as he'd had three glorious weeks of sleeping in till after 8am most mornings but he's sure to get back into the normal early morning routine soon...just not so sure I will...LOL! 

On Tuesday Sam's orthopaed advised that, after deliberating with his colleagues, it has been decided that Sam no longer needs to have surgery on his left foot.  Apparently there is one type of epiphyseal bracket which can rectify itself with time and it appears as though that's the type Sam has. We celebrated (again) like a bunch of crazy loons.  It's almost hard to believe when I think back to what that little foot looked like when Sam was born. It was so severely turned upwards and inwards that I could barely imagine him ever being able to walk on it.  Now there are times when Sam is weightbearing when it's almost impossible to see that there's something different with that little foot....without the help of any strapping, plastering or even orthotic boots. 

Earlier this evening we accepted an offer on our home, rendering it (pending mortgage approval for the buyer) effectively sold.  We're a little shocked that it happened so quickly.  We're a little sad at the thought of saying goodbye to the place we've called home for so long. But it is what it is.  A new challenge.  We can't have life getting all boring and predictable on us, now can we?

We had a bit of a heartsore moment last week when Sam and I had been sitting on the couch sharing (as Sam insists with anything he can see me eating) my bread-and-butter pudding. Once the bowl was almost empty, Sam gingerly took the spoon and looked as if he was about to lift it to his mouth.  Brampies and I jumped up and down with excitement. Sam does NOT touch his food or bottle or anything remotely digestible.  But instead of lifting the spoon to his mouth, Sam's hand went completely over his head and dumped the contents of the spoon down his back. The second attempt delivered a squelchey dollop of pudding in his neck.  At first we laughed. Then the realisation that this precious little boy, try as he might, could not navigate the spoon to his mouth hit me like a punch in the face and I remembered a particularly awful joke many of the boys delighted in telling when I was still in school.  It was not a good moment.  I discussed the incident with Sam's OT at yesterday morning's session as well as Sam not being able to articulate signs that effect his face. It seems as if Sam's spatial perception is just completely out of whack and we need to work more aggressively on developing that fine motor planning. 

That's the last two weeks in a nutshell.  As far as other sensory issues go :  hairdryers are back in - as long as they're not being used on Sam, vacuum's are tolerable again - as long as I am not the one doing the vacuuming, the handheld food pureer is back in - a huge Yay! for our wallets but what a massive loss to Woollies.  The sound of the cat meowing on the Zoo iPad app is out, Lala singing "Rabbit. Rabbit" on the Teletubby nightime dvd is a MASSIVE out and crawling over mini-obstacles in physio (which Sam could do without a blink of an eye up until last week) is now a definite out! And when I say "out" I mean that it makes Sam bawl as if he's quite possibly in pain. Like I said...no boring or predictable...
 

Tuesday, July 3, 2012

The Inaugural World RTS Day

 Tuesday, 3rd July 2012, sees the very first World RTS Day…an initiative orchestrated by an Australian dad in the hope of not only raising awareness of Rubinstein-Taybi Syndrome (RTS), but also the possibility of bringing more RTS families together across the world.


Rubinstein-Taybi Syndrome was first diagnosed 49 years ago by Drs Jack Rubinstein and Hooshang Taybi and there have been more than 750 recorded cases of RTS since then with an approximate statistic that 1 in every 100 000 - 300 000 babies are born with the syndrome. RTS at a glance is characterised by a specific set of physical features, being broad and/or angulated thumbs and/or first toes, short stature, downward slanting eyes, highly-arched palate, red flat birthmark on forehead, hyperextensible joints, excessive hairiness and, almost always, undescended testes in males. Some of the related medical conditions are feeding difficulties, eye abnormalities, chronic reflux, chronic constipation, heart and kidney anomalies, respiratory problems, seizures, a tethered spinal cord, dislocating kneecaps and/or elbows, vertebral and orthopaedic abnormalities, susceptibility to tumours and developmental/neurological disabilities effecting, amongst others, speech and mobility. As there are no blood tests available in South Africa to confirm RTS, a clinical diagnosis is made based upon these features/conditions.

Our son, Samuel, was born two month’s prematurely on 15th May 2009. Apart from being in severe respiratory distress, Sam had several unrecognised “abnormalities”. Amidst the daunting task of stabilising Sam, our paediatrician immediately sought advice from a genetics professor who, less than twenty-four hours later, diagnosed Sam with Rubinstein-Taybi Syndrome. At the time we never realised how fortunate we were to have had such an early diagnosis as many children born with RTS are often misdiagnosed or not diagnosed at all and having a confirmed diagnosis so soon meant that Sam’s paediatrician could immediately start checking for the conditions related to the syndrome, eg. heart and kidney defects, etc. Unfortunately though, Sam’s medical team had no actual experience with the syndrome, having just heard of it for the first time, so their information regarding RTS was derived purely from the details provided by the genetics professor and medical papers published on RTS which information largely corresponded with what we ourselves sourced off the internet which basically declared that our Samuel would be mentally retarded to the point of being uneducable, would more than likely never speak and achieve milestones like walking and potty-training several years later than his peers, not to mention the related medical conditions mentioned above. We spent the nine weeks that Sam remained in NICU preparing for the worst but hoping for the best while continuing to devour every bit of information we could on RTS. Somewhere along our cyber travels we happened upon a global RTS group who corresponded daily through a listserv, to which we instantly subscribed, and just weeks later were contacted by another RTS family living in Cape Town. The joy of finding someone who could share information and advice with a mere phone call or sms was invaluable and a few weeks after Sam was released from NICU we went along to meet Sam’s RTS sibling, Matt (who was just about to turn 3yrs old), for the first time. You can imagine our delight when we came face-to-face with a precious little boy who could walk, interact and already had an extensive sign language vocabulary.

Of course by this time we’d been spending ample time on the RTS listserv and had been in regular contact with Matt’s parents, Jacqui and Lloyd, so we already knew that while there were certainly many challenges facing children born with RTS, it was not quite the doom-and-gloom outcome one anticipated when sourcing all your information from the internet and medical papers. With RTS development and medical conditions can vary considerably from child-to-child and even though, at 3yrs old, Sam is nowhere near to being able to walk nor communicate verbally, his ability to grasp concepts we thought he might only achieve much later regularly leaves us awestruck. By the age of two Sam not only recognised all numbers from 1 to 10, he could actually select a set of numbers in the correct order and is now well on his way to mastering numbers 11-20, knows a number of shapes already and is a pro iPadder. Sam’s receptive language is brilliant, he understands everything you say and can follow instructions and even though he cannot yet express himself verbally, Sam knows at least 20 hand signs already and tries desperately to communicate them to the best of his ability. Sam is preciously loving and affectionate, has a charming sense of humour and, like all children with RTS, smiles with his whole being…not just his uniquely sculptured little face, capturing your heart at a glance…possibly why they’re endearingly referred to by their extended family as “RTS Sweeties’.

To date, apart from Matt’s family, we have only ever met one other RTS family (also from Cape Town), although are aware of approximately another five or six families in South Africa. It will be an immense celebration and success if, with only this one day dedicated to raising awareness of the syndrome, we are able to welcome just one more family to our little RTS group in South Africa or be instrumental in providing just one newly diagnosed RTS family with the reassurance and comfort that comes with having a doctor who, instead of starting your caregiving relationship with “Well, I haven’t really heard of RTS, but…”, says “Ah yes, Rubinstein-Taybi Syndrome! Well here is our plan of action with regards to what we need to watch out for and, most importantly, what we have to look forward to along this path….!” You can read more about Rubinstein-Taybi Syndrome on the global RTS website http://www.rubinstein-taybi.org/ or the SA website http://rts-southafrica.weebly.com/  and more about the very first Word RTS Day on http://www.worldrtsday.org/







Monday, July 2, 2012

Same Old Same Old

The past week or so has been a bit all over the place in Smurfville...sometimes diving into anxious waters and then suddenly soaring high...then diving again.  Basically the same old same old.

At Sam's orthopaedic appointment two Thursdays ago, Sam's OS tentatively scheduled Sam's foot surgery for the 26th July to be confirmed once he'd seen the x-rays we were to have after the consultation, as well as further confirmation from the other surgeon involved.  Not the best  news for our little smurf, who I'd so hoped would be able to go at least six months or so before another surgery.  Still, the consultation ended on a high when Dr dT advised us that there would be no charge for the consult as, technically, he no longer saw private patients but that there are one or two children who he can just not get out of his heart...Sam being one of them.  Aside from the obvious financial relief, Dr dT's statement brought tears to my eyes...having a doctor or any other medical practitioner share with you that they too are emotionally invested in your child (especially when there's no financial benefit to themselves) is something quite wonderful. 

This particular high unfortunately received a slight blow shortfly afterwards when the doctor we'd hoped to bring in for Sam's anaesthetic, advised that he would be overseas over that period.  Then, last week Thursday, Dr dT sent me an email saying that Sam's x-rays had shown an improvement on the angulation of that big toe and that, although he was still in the process of obtaining additional input from his colleagues, there was a good chance the foot could be treated non-surgically.  The worst case scenario, being that Sam still needs surgery, we would reschedule to accommodate our anaesthetist as the other surgeon involved could in any case not make 26 July. I replied to Dr dT's email with a very mature "Woo Hooooooo", literally bounced into Grampa's room (rudely interrupting his time with Angus Buchan) to announce the good news, then did an almost hysterical dancing-handclapping jiggy round the lounge with Sam (almost on the verge of tears by now with all the commotion), put Sam down and went in search of some anti-inflammatories for the muscles I'd most certainly pulled!

Our high got a bit shakey again by Saturday when Sam started wheezing and going all croupy on us.  On Wednesday night he started throwing up as well and I dismally saw our little trip to Pearly Beach slowly slipping away. 

But alas, here we are....three sleeps from Pearly Beach with a congested, slightly whingey little smurf but (thank goodness) nothing more serious than that as yet and literally just HOURS away from the Inaugural World RTS Day tomorrow (don't forget to wear your purple and yellow).  Disappointingly, even though I managed to send out a few more articles to various local publications, none of them seem to have been published. I might have had a bit more success if I'd had the time to push them a little harder but unfortunately Sam's been a bit too clingy for me to achieve much of anything over the past few days.  So at least I have the World RTS FB Event to look forward to - although I don't have the foggiest clue how to actually "attend".

Have I mentioned Sam's chair fetish before? If not - Sam is absolutely obsessed with chairs...plastic chairs, wooden chairs, his feeding chair, upholstered chairs, small chairs, huge chairs, tiny dollhouse chairs...and especially blue and brown chairs. Ballet recitals, school concerts and even doctor's waiting rooms are an absolute delight for chair-gazing for Sam.  A few weeks ago Sam added slides to his fetish and now excitedly points out any slides he manages to catch a glimpse of...even if its for a split second in the background of some random tv show or book and even when its not actually even a slide, like the little ramps on the toy car garages, the ramp in his PT's room, etc.  For the first time in his, almost, 3 years in this house Sam's noticed that we have a great big slide in our very own backyard so whenever its warm enough he loves going outside to "slide" (which entails someone holding him and shimmying him down the slide with very controlled movement and then quickly picking him up before he assumes the ever-so-frightening sitting position). 

These pics were taken a couple of weeks ago.....






Now I just have to master the art of drawing slides on the iPad :)