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, March 16, 2014

H'so Samuelson

Only eight more sleeps till I lose my not-so-airy Aircast *happydance Honestly, I really thought the 'air' in Aircast implied that the boot was super lightweight. It isn't. I was beyond despair the first couple of days thinking the injury was so much more devastating than I'd thought if instead the boot seemed downright chunky and heavy, anything but airy. Was I ever amused to finally discover the little dial and round knob-type thing actually pump air into the cast. Aaaaahhhh...air! I am at least thankful that the boot enables me to move around without crutches and I've even been able to carry Sam a little. Any time off those knees is a huge relief but he seems more and more reluctant to walk with us. So we've created a really complex (not really) little game which involves whoever is willing to walk in front of Sam chanting "Left. Left. Right. Lift" and on cue the lil smurfy dude will lift his right leg, but only his right leg. If the chant stops on the wrong leg he takes great pains to switch over.

Somewhere out there there's a village with a karate kid-deprived parking pillion with your name on it my boy! 

To say there's an element of cabin fever in Smurfville would be an understatement of note so we thought it would be a good idea to go watch the last hour of Meg's evening marathon at school last Friday night. We drove the exact same route we've driven at least once every school day over the last seven years so a vomit episode triggered by encountering unfamiliar surroundings would not be called for, right? Wrong! No.1 it was dark and No.2 we turned through a different gate. Seconds later the little dude was hurling his dinner out.  Just a coincidence,  you might think...a case of bad timing perhaps? On Saturday morning we popped down to the local traffic department to collect my renewed driver's licence (you know, in case I get pulled over while going nowhere). Pull into the parking lot, I open my door and there the flood erupts. Nevermind the Terminator... The Vominator is back, in full force. Obviously with Sam and I effectively being homebound and him not needing to deal with the usual stress he faces with any sort of social encounters, we're going to find ourselves back at square one when I can eventually drive again. Something to look forward to.

On Monday Sam had an appointment with a new Prof Paed. We were a little anxious that upon entering the rooms Sam would instantly start throwing up. Luckily there were too many distractions. New Prof Paed suggested a new reflux med for Sam which is wonderful. I've wondered for some time whether Sam's sleep issues aren't related to his reflux but honestly didn't know there's an alternative to Losec. Because there's no chance that Sam would simply swallow half a Losec mup, I dissolve it in a drop of water and add it to his food (it doesn't go through the teat of a bottle) but if the Losec is not ingested with 10-15 minutes it basically becomes ineffective and Sam seldom finishes a meal in less than 30 mins nevermind 15. So the new med, Nexium, which is still Omeprazole, is simply mixed with a little water to form a completely flavourless syrup and given just once a day. Works like a dream so I think we've got the reflux sorted. Prof Paed shared the opinion of a good friend(who also happens to be a fab paediatrician) that Sam's urinary retention issues are almost certainly related to bouts of constipation Sam's had trouble with. A quick look in Sam's ears confirmed that the right grommet has already fallen out which is a bit of a bummer. The right ear is the problem ear and tends to react the moment the grommet falls out which is why the ENT  apparently used a different tube in the hope it would stay in place for at least 18 months. It's been only 9 months since the current set was inserted :(

Sam weighed pretty much what he has for the last six months, round 15.6kg's and stands just over 95cm's tall. That's just 58cm's shorter than his mom. Prof Paed asked if he could discuss Sam's sleeping issues with a colleague which had me impressed with both his caution and humility at not suggesting an immediate remedy. On Wednesday he called to say they'd come up with a possible option called Stilnox but that he would want to admit Sam overnight should we decide to give it a try as he is wary of Sam's reaction. That had me a little anxious but again grateful for his caution. At the end of the conversation we decided to wait it out a little longer before trying the Stilnox. 

Tracey from Iris House was spending the morning with Sam so I was able to have an attentive conversation with Prof. Shortly after the call I sat with Sam and Tracey and noticed Sam slipping into a sort of 'blank episode' which he's done before but not for quite some time. I've known for a while that many of Sam's RTS siblings suffer with absent seizures but have never been quite certain whether Sam's blank episodes were the same. Tracey confirmed instantly with one look at her that it was in fact an absent seizure and then confirmed it verbally too. At least now I know what to watch out for but there have thankfully been no more. 

Meg has been off on a school camp for five days, arriving home on Friday accompanied by a snotty nose, sore throat and coughing. Not great on its own but made more worrying by the fact that we leave for her hockey tour on Thursday. We've already joked about what kind of 6-7 hour trip we're in for if Sam's going to vomit with every unfamiliar parking lot we pull into. Yikes! 

Friday, March 7, 2014

To emigrate or not to emigrate...that is the question

It has recently come to my attention that my sleep pattern is no longer compatible with the South African time zone. I am generally wide awake from 12 am onwards so the only reasonable solution, at this insane hour, seems to be emigration. Perhaps spreading three kids out over sixteen years was not such a good each child eventually outgrew the early childhood sleep and health issues (asthma with Luke; croup, sinus and ears infections and eczema with Meg...and now Sam - nuff said) I went and had another baby. So after 20 years of motherhood assault my sleeping mechanisms have thrown up their hands and said 'you're on your own you crazy woman! '

Or it's the fact that at the ripe age of almost 40 I have a strict bedtime of 7:30pm thanks to Sam not being able to sleep on his own and refusing to go down with anyone else so, only ever having needed 4/5 hours sleep at night, I am bright-eyed and bushy-tailed by 1am (not so much by 2:00pm-ish tho). And this horrid cast and the subsequent rash it's caused on my shin doesn't help. Neither does the fact that Sam has upped his game from mere bodybashing to Tazmanian Devil style body-whipping. Why, you might ask. Because I have no faith in my own judgement, that's why. Chatted to Doc Paed last week about Sam's urine retention problem arising again (Did I blog about that yet? Sam went a record breaking 17 hours without a drop of wee) and mentioned that the lil smurfy dude is still not sleeping. Doc Paed asked if we should try Phenergan. With having a maximum two/three night success rate with Aterax and Valergan resulting in nothing less than an impromptu circus, the mind screamed DON'T.DO.IT!

The voice said...sure!

First couple of nights there was sleep but nothing fabulous. Last night the Tazmanian Devil arrived, literally whipping himself up the sides of the bed, pulling hair and trying to shred pillows with his bare teeth. So when preparing to get Sam into bed last night, Chris asked 'Phenergan?' (a legit question). The mind screamed DON'T.DO.IT!

The voice said...sure!

I've acknowledged I've been a long time sufferer of FIM Syndrome (Foot-in-Mouth) and my brain and mouth seldom seem connected but this is just ridiculous.

Just 1hr and 23min till my alarm goes off and 23 mins till the end of this particular loadshedding block, which never happened Woo hoo! Now I can get up and go to the loo. Didn't want to chance it during the scheduled times in case they decided to cut the power just as I'd stumbled up onto my crutches. My foot keeps going numb, especially at night, which is a little worrying as my cast is definitely not too tight. Even more worrying is Sam's lack of exercise since I fell. Before, he and I would walk around the house a good few times every day but he refuses to do it with anyone else and while I stretch his legs during the day, it's just not the same. I can already feel his tendons stiffening but what can I do? I can't even keep my own balance without crutches at the moment so don't feel comfortable trying to hold Sam up just yet. He's probably going to need more intense physio rehab than me :(

Sam's only happy place at the moment :

Tuesday, March 4, 2014

Twerking and ending the word

I wouldn't consider myself a term-o-phobe...unless it's a word meant in a derogatory way of course (I have no actual clue whether that's even a word so don't quote me. Would jump up and grab a dictionary quickly but with a 3ton contraption dangling from my ankle, there's not a lot of quick happening round here). It did not phase me at all to have Sam proudly featured on a Rare Disease Day banner recently...occasionally I have a little faith in my fellow human beings and their ability to consider 'disease' in this case in the correct context. And let's be honest, Sam is not the healthiest lil dude smurfing around and with things like autoimmune issues and the rest of it, illness quite often rears it's head along our journey with Rubinstein-Taybi Syndrome. Most things in life have an ambiguous connotation, sometimes you just gotta focus on what's real for you and not sweat the small stuff.  So,while I did twerk my post to read Rare Disease / Syndrome / Condition Day (Twerk? Really? I have images of Miley Cyrus assaulting my brain. TWEAK folks! I meant to say TWEAK!) I really enjoyed the spirit of unity and support displayed all over the social media and felt even more blessed when finding out that all seven of Sam's 'school friends' and their moms had donned jeans for genes. Too precious ♥

(Pics below as I am still figuring out this whole Android blogging app)

Yesterday was the official 'Spread the Word to end the Word' Day. People using the r-word as a means of insult in a derogatory way... that I do have a problem with. If it's a doctor referring to Sam's growth or development...sure, 'retarded' is an acceptable term. I can't say I agree with ANYONE referring to Sam's cognitive or academic abilities as retarded...yesterday, after several requests on my part, the kid correctly identified a  parallelogram out of four possible shapes... and not the boring basic shapes he's known for years, but more  challenging shapes like ovals and pentagrams. That's no mickey mouse achievement for a 4yr old. People referring to people/movies/situations/objects as retarded is nothing short of a neanderthal mentality. Really. Move on o' ye uninformed cavemen. People with intellectual/cognitive challenges are taking the world by storm...they have to work ten times harder to achieve what comes naturally to you, have to constantly prove that they are worthy of respect and makes them more diligent, more passionate and relentlessly determined. The only person whose intelligence requires questioning is the one whose vocabulary is so lacking that they are unable to produce a more appropriate word than the r-word. As I said,  occasionally...very occasionally...I have faith in my fellow human beings. 

So other than raising awareness and slamming ignorance, there's not much excitement going on in Smurfville. There could be what with night marathons,  crown birthdays, school camps, Iris House Easter egg hunts and hockey tours all happening within the next 3 weeks, I should be swept off my feet with anticipation. Well I'm swept off my feet alright, just for the wrong reason. Uugghh! So frustrated with this whole ankle story. But I can tell you one thing, it has given me a fresh perspective on the challenges people, and especially parents, with physical disabilities face. We most certainly take our bodies for granted.

In closing, I recently followed a thread where several moms debated whether SensoryProcessing Disorder and even a degree of Autism are both a part of RTS. While I absolutely agree that most RTS kiddies along with very many other conditions/syndromes afflicting children, are prone to sensory issues I can assure you that it is a whole different scenario to a child who has a completely separate and additional SPD or Autism diagnosis. To simplify, if you took the RTS out of some of our children would they still have those sensory issues? More than likely not. If you took the RTS out of Sam would it remove from his life  his inability to determine whether he is 1cm or 1metre from the floor, the confusing co-ordination which prevents him from being able to touch his nose when prompted, the debilitating fear with which he lives through each and every day of his life which prevents him from taking his first step, delighting in a slide at the park, enjoying his bath without cowering at the glimpse of a solitary water bubble floating behind him. Take the RTS out of Sam and we'd be doing a crazy loon dance at not having to deal with all these medical problems, but would the kid be in a different place  developmentally? Absolutely not!

Just wanted to put that out there. Reactions on some of the support groups have been a little fragile lately, feel safer here ;)

Sam's art class friends showing their support. Love.