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)

Sunday, April 27, 2014

After a wonderful long Easter weekend in Stilbaai (although less than wonderful journey there compliments of the frightening number of reckless drivers on the road Thursday evening and a very grumpy smurfy dude who was not dealing well with the traffic delays) we started our week with Sam's MRI on Tuesday. I was a little tense about Sam being only third on the list and managing till 10:00 am without his morning bottle but with the exception of a few iffy moments where he seemed on the brink of a major wobble, he actually surprised me by managing even longer as the MRI department only sent for Sam at 10:40am. The entire scan took about an hour and forty minutes. The anaesthetist initially planned on trying to make do with a Laryngeal Mask as opposed to going with the compulsory intubation as per the RTS Medical Guidelines, seeing as there was no real procedure taking place. Sam having had seven previous anaesthetics, all with intubation from the onset, I was curious as to how his airway would react but the anaesthetist reported that Sam's airways collapsed almost immediately and so she had to intubate after all. At least now we know for sure that it's completely necessary and most definitely compulsory. 
Also as a precaution, an IV was placed... in Sam's right hand. The right hand of the same kid who almost always spews his stomach contents at the slightest contact from anything remotely resembling a plaster. Once again we couldn't even secure his hospital Id tag around his wrist upon admission. So an IV? Simply asking for trouble, despite there being no stomach contents to spew. Before even opening his eyes properly Sam started trying to bang the plasters off his hand, stopping only to alternate with frantically trying to pull it off himself. Before we could be discharged Sam had to have had something to drink/eat and passed urine. After a while the nurse eventually agreed that as long as the IV stayed in Sam's hand there would be no drinking or eating happening. Once it had been removed the starving little dude, now 17 hours since his last Pediasure intake, polished off a bottle, a bowl of jelly and custard and a yoghurt to follow when he repeatedly signed more. Sort of explains his sporting a healthy 16.9kg's on that no-so-smurfy-anymore frame. After waiting patiently for a wet nappy which would normally okay a patient for discharge, I shared with the nurse that Sam can go anything from six to sixteen hours without urinating especially when there are constipation issues at play (inevitable with anaesthesia) and so we left the hospital shortly thereafter...minus a wet nappy and the MRI results. 

Feeling a little sorry for himself

But still managing a smile

It was a little disappointing leaving without the results, particularly because with the last MRI they were sent to the ward almost immediately. The radiologist though had requested the previous scans images and reports which didn't quite make sense to me as I felt that having a completely 'fresh' review could hardly be a bad thing but nevertheless rushed the package along to the hospital early Wed morning, with a more than usual wheezy Sam in tow. By lunchtime on Thursday, after still no feedback, I called the neuro's office and was assured that he had received the results but was still going over them. Concern started creeping in at an alarming rate. 

Eventually on Friday afternoon the neuro guy called. Pheeeeeeeeeew!

He said that Sam's spinal cord was a little more low-lying than normal but a definite  improvement at L2 as opposed to L4 pre TSC surgery. He also shared that sometimes with a tethered spinal cord, the stretching of the cord can result in a Syrinx (or several) in the cord which is effectively little holes which form but was happy to advise that Sam's spinal cord is looking very healthy. And then he shared a rather profound bit of information regarding Sam's brain scan! 

Brain scan? Didn't know Sam was having a brain scan, did you? Nope? Me neither! For like forever I've whined about how intriguing it would be for Sam to have a brain scan to confirm whether he has the Agenisis/partial Agenisis of the Corpus Callosum often associated with Rubinstein-Taybi Syndrome. Not because it would cause an earth-shattering change to life as we know it but in the hope that the knowledge, if confirmed, together with more relevant and deeper research might lead way to my being able to sort of more effectively focus on the areas of development which Sam seems to struggle with the most. I guess a better way to describe it would be an incessant fear that I am missing something, that there is a wasted opportunity to help Sam reach his utmost potential simply because of ignorance or lack of knowledge. Watching as many of Sam's RTS siblings achieve milestones Sam has yet to conquer, often at less than half his age, has for sure left me wondering sometimes. Not jealous. Not bitter. Just really puzzled. So with Sam seemingly determined to even do different differently I would expect nothing short of a puzzling brain scan. And puzzling it was. Sam's scan showed a *normal* brain. 

Hysterically happy dancing? Absobloominglutely!

I waited in silence after the doc delivered his news for the "But..." only to hear the neurosurgeon admitting with amusement that he too had been a little surprised, so much so that he had phoned the radiologist to double check that there had been no mistake. The radiologist reassured him that Sam's Corpus Callosum is completely intact and very much present. The doc explained further that apart from tiny bubble-like cavities surrounding the blood vessels, most often associated with IUGR (which I confirmed being diagnosed with at 24weeks), referred to as luposomethingcephaly (my brain was struggling at this point with the wave of thoughts bombarding it - sorry) Sam's brain appeared as that of a typically developing child. How incredibly fascinating. The next step now is perhaps a little less jovial - a referral to a   developmental paediatrician to rule out any additional issues at play in that awesome little mind. We know there's the Sensory Processing Disorder which I've often complained seems more of a challenge to Sam than anything else. Who knows. I'm not even going to try and entertain my own assumptions at this point xxx

Wednesday, April 16, 2014

Shake it up baby now....

...twist and shout!

I have no conscious recollection of Sam ever having heard that song but somehow it must be playing over and over in his head because the second his pushchair rolls through the door of any shopping mall that's precisely what happens. We make sure that every shopping trip is accompanied by the ipod competing with the usual mall-raucous to belt out Heads & Shoulders and other equally delightful kiddies songs, which tunes are accompanied by a little dude whose entire body shakes, flaps, twists and occasionally squeals...not always response to the music. And when I say entire body I mean it in every essence of the word....head,neck, arms, fingers, wrists, legs, feet and even the palm-tree-like tufts of hair on his head each go off at their very own rhythm. It inevitably creates a reaction. More often than not it's a friendly smile or lighthearted utterance about him being happy, etc. But sometimes it's a plain and undisguised stare, the kind where the deliverer of said stare glances out of the corner of their eye, quickly looks straight ahead with obvious feigned indifference and then just as you're about to pass from their view they do a sudden Ace Ventura-style headwhipping to take a better look at the blur of movement being barely restrained by the straps of his stroller. It's a fascinating scenario. I've only ever met two other kiddo's with RTS and although we've never strolled through a shopping mall together, I don't believe they are quite as twisty-flappy as Sam which makes me wonder if there are any other RTS kiddo's who do it and how their folks deal with the attention. Some days I just ignore it, some days I play a little private game where I try turn my head at the precise moment I think the Ace Ventura-style headwhipping will take place. Some days, like today, I'm just not up to it. So when we headed down to the mall this evening  left the ipod at home. And? There was twisty-flapping galore. It ain't the music on the ipod he's flapping to so it's gotta be the music in Sam's head :)

So on Monday we had our  appointment with new Neuro guy. It was an interesting process just getting to the hospital. Sam's bowels had been a bit sluggish so I'd increased his Movicol for a day or two which means, in turn, that there'd be a day or two of 'cleansing' when the Movicol kicked in. Would it be our life if that day of cleansing did not happen on Monday? Absolutely not. Sam had two relatively large nappies early in the morning so I felt we'd be free from the chaos always caused by Sam needing to be lied down for a nappy change any place other than my bed. We left the house en route to Aunty Justine's, a total journey of about 8 mins, in which time Sam delivered the ultimate cleanout I thought we'd already conquered. Rushed inside and worked through a tense but manageable nappy change saved only by the fact that it was being done on a bed at least. Then in the following eleven/twelve minutes max it took to the hospital, yet another cleanout was delivered! Seriously? Granted not as explosive as the previous one but without the safety of a bed to clean it on. So I drove to the very end of the parking lot, completely isolated from any other car where hopefully Sam's freaking out would not be heard by anyone. Arrived just just on time for appointment, ridiculously flustered. Luckily the 37 mins we waited gave me some time to catch my breath and cool down. New neuro guy is really nice so 37 min wait was quickly forgiven. He gave Sam the best possible examination you can perform on a squirming protesting little dude, we chatted about scheduling another MRI and then he asked me to please bring in the original post op MRI disc for comparison, which posed a very slight problem in that there never was a post op MRI. Seriously? Well better late than never right? Even though it's approximately 3yrs late. #eyeroll

So leave docs office and make my way through the door only to come to a grinding halt. The sunshine we'd arrived with had been replaced with a strong wind and drizzle. Firstly, I very VERY seldom wear skirts. I had a skirt on. And not just any A-line and particularly flairy skirt (I so wished I'd done the ironing on Sunday night like I'd originally planned). And secondly, I'd parked as absolutely far away from the door as I could. I awkwardly maneuvered myself and Sam to the paypoint, trying to maintain my decency, shield Sam's summer-clad little body from the elements and pay my parking card at the same time. Grabbed the coins from the change drawer and dashed to the car, unlocking it and unfastening Sam's straps while looking in my bag for my paid ticket. The ticket. Nowhere to be found. S.E.R.I.O.U.S.L.Y!

I hadn't taken it from the machine.

Refasten Sam, relock car and dash back to the paypoint like a, now,frizzy-haired loon. Of course the ticket wasn't there, that would be too easy. Luckily the security guard remembered me being there just moments before and scooted around the entrance, thankfully finding my ticket caught in some plants where it had blown. Amidst mouthfuls of wayward hair, uttered my eternal gratitude and offered a repeat display of comedy departure. Yes...seriously.

The hospital phoned today to say that Sam's booked in on Tuesday already which is a little short notice and only at 10am which brings with it it's own set of challenges trying to calm a starving little Smurf who doesn't understand why he's being deprived of his morning bottle an porridge. Let's just pray that it's all made worthwhile by an MRI which clearly shows that there has not been a retethering of Sam's spinal cord.

And sleep? Well those glorious 14 nights we were spoilt with a couple of weeks ago don't seem to be making a comeback any time soon. We're back to 4-6 hours of thrashing around at night, mostly caused by an impossibly congested nose despite Sterimar and Iliadin sprays, eucalyptus misting and Karvol drops on the linen. Last night though Sam seemed to have an intense, unbearable itch all over his body. And tonight were doing continuous apnoea's.

I tried to sneak some time on the computer to have a go at pimping Sam's blog a little but as you can see, it did not go well - just as I started Sam woke up. So please excuse the rather random design for now.

On Sunday we were invited to an Easter egg hunt by Iris House where Sam had such a good time and no matter how excitedly he flapped and 'danced' the only looks he got were those of love...

Wednesday, April 9, 2014

All a mom wants :)

I was absolutely determined to hold out posting until I got an opportunity to do so from my pc...well that worked out well, so here we are :/

Iris House Childrens Hospice contacted me last week to say they're coming to do a respite care sit yesterday morning so I had mentally prepared a jampacked four hours of ironing, taking up the hems of the several pants hung over my chair that I can't wear (would be hysterically happy to one day buy a pair of pants that don't need shortening) and then of course had at least a two hour blogging session in mind. However, the IH ladies arrived and Sam seemed so completely relaxed and 'okay' and there were a few errands I needed to run yesterday which were going to be a bit tricky with Sam, like needing to have a few docs certified at the local police station for Meg's high school application (Eek). Which local police station has only 2 very steep, very short steps at the ramp in sight...very disabled friendly. I also then needed to go deliver the application which would entail having to strap Sam into his pushchair to walk up a sloped driveway with my dodgy, braced ankle just to literally hand the envelope over and leave again. Unfortunately, while the idea of a nicely laid out post with neatly, appropriately detailed pictures was attractive, the thought of ironing and sewing compared to an hour to myself was not. And so Sam had his very first 'solo' respite sit! And it went really well. He refused to drink his Pediasure which was sort of expected but I was only gone for just under an hour-and-a-half so that wasn't a huge trainsmash.

And the dodgy ankle brace means that I can finally drive again. Big whoop whoop! Which means that Sam could return to his therapies for the first time in  almost 8 weeks. I anticipated a really resistance-filled physio session on Friday but Sam surprised both Heidi and myself. Of course there was some moaning, but there always is. I actually think it would be fair to say it was one of Sam's most fruitful sessions yet and with him having four-and-a-half years of therapy under the belt, that's no careless statement! With my ankle taking so long to heal I've had to push Sam to see walking as the first choice of movement and not so much mom's hip. So wherever we've needed to go, whether it's the short distance to the bathroom or the much longer distance from the car to the door, I've insisted Sam walks it with me holding him steady on his waist. Realistically, he's still not going to walk any time soon (even though his 5th birthday looms barely a month away) but he's definitely becoming less afraid and fear is ultimately what's holding him back right now. Last week I needed to pop into our local Spar and decided to take Sam's walker along. It was the most entertaining trip we've ever had to such a basic store. Of course Sam loved that he was navigating his own way and gestured wildly while exclaiming with delight, in an especially sing-songy voice, at things he recognised like bananas. At the end of the trip the five items we purchased took us more than 45 mins but it was well worth it. 

We're still battling to secure an appointment with the neurosurgeon who operated on Sam's tethered spinal cord which is becoming increasingly frustrating for a host of valid reasons, not least of which would be that as he performed the surgery he is obviously the person you'd most like to do the follow-ups and also, we really liked him and his caring and compassionate nature, which is probably the reason why he's chosen to discontinue private practice and focus only on his work at the state hospital, where we are not welcome. Thankfully, by way of kindness, we've been referred to a new neurosurgeon. The orthopaedic surgeon taking care of my ankle insisted on giving Sam an impromptu and free examination at my last follow-up. He completely agreed with the need to have Sam undergo a follow-up MRI of his spinal cord and immediately requested his assistant schedule an appointment for us with the neurosurgeon just down the passage, who he highly recommends. So we see the neuro this coming Monday...finally!

I do tend to become emotionally attached to Sam's specialists. It takes me a long while to establish trust, so to have to keep rebuilding relationships can be a bit exhausting, not to mention the nagging guilt. But I do have to admit that I now absolutely advocate the need for very occasionally acquiring a new perspective. For eighteen months we have battled, unsuccessfully, to try and resolve Sam's sleep problems and find out once and for all what prevents him from resting peacefully and drives him to such extreme frustration that he resorts to hours of harmful body bashing, despite us having tried almost every medication available. As I mentioned in my last post (I think?) the prof paed we saw on 10th March changed Sam's reflux meds from Losec to Nexium. Sounds kinda insignificant, right? Well for fourteen consecutive nights Sam slept through most of every night. There would be an occasional 30 seconds bashing here and there but nothing even as remotely distressing as before. He's now unfortunately got a bit of a snotty nose so we're back to disrupted sleep again, but still very manageable. He's even been taking afternoon naps again, the shortest one being today of just over an hour while the others have lasted up to two/two-and-a-half hours. And a kid who's finally getting some decent sleep makes for a much more relaxed little dude all round... whether it's at therapy, in shops or spending five hours next to a hockey field each day for Meg's recent hockey tour.

Sam also seemed to be in a bit of a eating slump at the time we saw Prof paed so he suggested putting Sam back on Cipla-Actin and what a barrel of laughs that has been, he's now constantly starving. And where we had found ourselves back at that place where I was pureeing things like cooked-to-the-point-of-being-mush oats and even shop bought baby food (Yes, really), all of a sudden Sam was eating pieces of apple, jelly tots and even chocstix (chocolate covered pretzels). And anyone eating in his presence without his own mouth chewing is a no-no. We were at a braai (BBQ) one night, Sam having had his dins much earlier, and I was just about to bite into my rib when a little hand reached over and slowly guided the meat to his own mouth. If it wasn't for the chilli spice on it I might have let him take a nibble just to see his reaction. 

Sleeping and eating.... what more could a mother want for her child? Okay... maybe pooping. Oh...and talking...and walking would be nice too :)

Ending off with pics ♡

For a kid with such major sensory issues,  Sam is very tactile and usually needs to be holding onto someone whether it's Meg's hand in the car, Mom's hand while he iPads or Mom's arm while he sleeps. I adore this part of Sam ♡  

  Another cute habit Sam has is what's commonly referred to by our RTS community as 'twinning'. Twinning is basically when, for instance, our kiddos want to watch the same thing on tv and their ipad at the same time. It can be quite tricky successfully timing both devices perfectly but I have to say we've quite near mastered it.  

   It's such a 'smally' for some but the fact that the lil smurfy dude can transition into a sitting position independently again still makes me so happy. No achievement is sweeter than when accomplished despite challenges, lost through trauma and then mastered again ♡

    Sam getting some much-missed flapping in next to the hockey field

     Making himself at home at Overmeer Guesthouse    

      Dad kinda loved the kingsize bed... less chance of being whacked by a stray,  thrashing arm  

       The only time Sam slept during the six hours there and the six hours back - and this snooze lasted all of about 15 mins. 

        Meg on the other hand slept almost the whole way... not unusual for her
Sam's early birthday pressie from Bramps