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, September 28, 2011

Camp-say-whosey-whatsit?

Yesterday morning we had our much anticipated follow-up appointment with Sam's hand surgeon to a) check that the bones in his thumbs are still growing straight after last year's procedure and b) to have a look at why those little smurfy fingers are growing in a bit of a funky curve. The entire appointment took two hours...which ordinarily would be a little frustrating but throw in a blessed outcome and it becomes less frustrating and so much more worth the trouble.

Firstly - Sam's thumbs, although not completely "normal", continue to grow in as straight a manner as possible, ie. no regression to growing skew again. We will still have to look at repeating the operation when Sam is five but should Sam seem to have a relative amount of functionality at that time, I am not too certain we would go ahead with the surgery.

Secondly, Sam has a condition called Camptodactyly in three of his fingers on the left hand and two fingers on the right hand. I was certain the remedy would involve a surgery in the near future, but amazinly Dr C feels nighttime splinting might be aggressive enough to correct the fingers. So, most of yesterday's two hours was first spent trying to get remotely accurate x-rays of the thumbs and then a good sitting at the occupational therapist to fashion a splint for Sam. The only problematic issue is that take one little smurf + some serious sensory issues = not great success with handling of hands/fingers....as the poor OT discovered yesterday while trying to mould the splint on a squirming, screaming Sam. I decided that I would wait for Sam to fall asleep last night before putting the splint on but eventually didn't go through with it because for the first time in a long time Sam fell asleep relatively easily and seemed quite peaceful. Taking into consideration the difficulty we've had over the past few weeks to first get Sam to sleep at night and then to keep him asleep, I decided not to rock the boat on the one night it was all going well. Tonight though, regardless of all of this, I am definitely going to put the splint on - "Oh Happy Days"

It looks like Spring has finally sprung here and Sam and I have celebrated with an occasional morning walk, although Sam looks more like he's going on safari in the North Pole (if there is such a thing) instead of a quick stroll around the block.



Spring or no Spring, the morning air is still quite nippy and we are (touch wood) off to Stilbaai for the weekend so can't have our little man getting ill now.

Sam seems to be getting back into the OT swing of things  (pardon the pun) and gave Pippa a much easier go of it on Monday morning, although I think it is much more Pippa's "special" way with Sam as opposed to Sam putting in a whole lot of effort. Tsk Tsk....if it was easy, it just wouldn't be Sam!

I have to rush off as my spirited little boy, amongst all his new-found abilities, has learned how to throw a "fake" tantrum by forcing out a really exaggerated type of cry/grunt/shriek...all because I refused to let him sit on my lap and press on the pc keyboard while I am trying to update his blog :)

Monday, September 26, 2011

You *have* to see it to believe it.....

For some time now, when Sam watches his Brainy Baby Numbers dvd, he will hold up which ever foam number they are speaking about at that moment. I have taken a video of this too, a while ago, but my near-hysterical exclamations of joy completely overpower the video so, in an attempt to preserve some element of self-respect, I decided not to post the video.

This afternoon while watching Sam carefully select his numbers I couldn't quite understand why, when he's done it correctly so many times before, he kept selecting the incorrect numbers. My first reaction was to try and correct him but it was only after the second "take" that I realised he was selecting his foam numbers, in the correct order of course, in advance before they actually appeared on the screen. My silence thereafter is a clear indication of how stunned I was.....it's a bit of a long video even though I did stop at number 5 (be sure to turn the volume up so you can hear which number is being counted on the dvd) :


To say that my little smurf blew me away today would be the understatement of the year...Brampies and I barely managed to control the tears when we began to fully comprehend the amazing blessing we'd experienced. How awesome is our God!!!!

Wednesday, September 21, 2011

A One-Smurf Band

I am becoming more and more concerned about our little man's absolute LOVE for tv, especially as he has taught himself how to turn the volume up using the buttons on the tv. Just this morning we had a war-of-the-fingers as I stood behind him with the remote and for every notch I turned the volume down, so he turned it up.The only, very slight, consolation is that he is only interested in watching singing/music or anything to do with numbers and counting. He has no interest in anything remotely cartooney anymore, not even Mickey Mouse Clubhouse which used to be his favourite.

One other not-too-bad aspect is that he has picked up a decent amount of knowledge from his music/number shows, coupled with our daily "lessons" on numbers, counting, colours, etc. (although he does seem to pay more attention to the tv lately and when I am sitting in front of him with whatever activity we are busy with at that moment, he will quite often look passed me and point to the tv - maybe I should make myself a cardboard frame to wear with some background music from a hidden iPod). Anyway, Sam quite often imitates what he sees on the tv especially on his Brainy Baby : Music dvd (as I've mentioned before, all the characters on the Brainy Baby dvd's are children which I think is actually what the attraction is for Sam). So, when the children are learning about musical instruments Sam is keen to participate....







Sam can find a rhythm in *anything* even something simple as running bathwater and, of course, anything remotely rhythmic calls for a serious amount of hand-flapping and head-shaking. He is awfully sweet, this little boy.

We finally got back into our OT routine yesterday and it felt good...well for me anyway. Whenever we are therapy-deprived I feel unsettled and anxious, like we are losing valuable time. I know, doesn't make sense, not even to me :) So it was great to see Nita and Pippa again yesterday, although with the latest surgery and sensory regression, even Pippa noted how defensive Sam is at the moment. It'll probably just take one or two more sessions before Sam's back to his old self again. Next week we've ST and a trip to the hand surgeon to add to our schedule as well and an utterly thrilling trip to the dentist for me, appointment no. 2 in yet another root canal process. I am keen to get Sam to a dentist soon too, although I don't see any obvious cavities or problems and he's quite okay with teeth brushing at the moment (surprisingly), has even taken to sticking his tongue out so I can brush that too. I guess with hair brushing, sensory brushing and teeth brushing he just figures ALL of him needs some type of brushing. I have noticed that his one little front tooth seems to be discolouring a little at the back so am thinking of having it checked out, but will wait until we've our orthopaedic appointment behind us before I subject Sam to any unnecessary trauma by adding another doc to our entourage.

We have had quite a long stretch as well since our last PT, but Sam and I still have our own PT session almost every day. He has gotten awfully cute with his PT exercises and when stretching his hams he does the leg exercises on his own and has even started lifting his own bum now...Heidi would *love* this, she tried at every session to get him to do this, but I am almost certain that if I had to try and coax him to do it during an actual PT session, Sam would just lie there like a ragdoll.

In the middle of typing this blog, I slipped out for my very first EVER Sam-less breakie with Aunty M, while Brampies stayed with Sam.....A-L-O-N-E! And, how do you know our Sam, he had to of course give Brampies a dirty nappy (Brampies' first EVER poo nappy...LOL). It was awesome to just sit back and indulge in some girly chatter while drinking a warm cappucino and munching on a muffin...thanks M xxx. And I got home to a perfectly calm little smurf and equally calm Brampies, with the only "oops" being that Sam has somehow managed to change our tv to black and white and I can't figure out how to fix it.

A short update on Sam's eating and sleeping (short because I am scared to jinx the good stuff) : Sam's appetite seems to have returned and/or his sudden aversion to pureed food has disappeared, whichever was the culprit. Sleeping is still a struggle with some really trying moments, like last night when it took two hours of trying to get him to sleep before eventually caving in and just going to lie with him in our bed. Oh, but at least he is eating again....thank the Lord!

Sunday, September 18, 2011

Luvin' Reflux

We possibly just attended our shortest church service *ever*! Why,you may ask...because our v-wording smurf, just as our minister's daughter began giving her first ever testimony, refluxed up not only the bottle he'd just been drinking, but both his porridge and morning bottle as well.

Luvin' reflux right now *sigh* (especially as this was the first time in almost 2 months that Sam seemed healthy enough to attend!)

Friday, September 16, 2011

Ride for Rubinstein-Taybi Syndrome

Well, it's confirmed...Chris and I have entered to ride in the Cape Argus Pick 'n Pay Cycle Tour being held on 11 March 2012. We would desperately love to be able to ride as a Charity Bond for RTS, which would mean we'd be featured on the official website and be able to purchase a stand at the Expo at a special rate, all in the hope of raising a greater awareness of Rubinstein-Taybi Syndrome in South Africa.

The only slight drawback is that to enter as part of a Charity Bond you pay a R500.00 registration fee, as opposed to the normal R300.00 but there are a number of advantages of riding in the Bond, well worth the extra R200.00 in my opinion, being :

  • A start time of no later than 08:45am (great news for "new riders" and especially for me as a first-time rider, as the latest starting time is 10:00am)
  • A "special" goody bag
  • A special area at registration for collection of race packs
  •  The opportunity to support a good cause
In order to be able to ride as a Bond, we need to have confirmed a minimum of ten riders by 30th September 2011 and (at R500.00 per rider) be able to pay the R5,000.00 by that time as well. Thereafter, we have until 15 January 2012 to add riders to our Bond.

Yes, the thought of cycling 110km's is pretty daunting for some (or just plain scary for me), but the modus operandi from my side is to simply have heaps of fun, to get caught up in the excitement and anticipation of "getting ready" before the time...enough to actually make the 110km's within the allocated time...and of course doing all this while knowing I am doing something for my precious little smurf. So you need not be a veteran or even half-serious cyclist to join us. And to give you an idea of how challenging this is going to be for me....it took me half an hour to cycle 5km's on Wed! Yikes! Oh please let me finish in less than eleven hours :)

So come on, folks, we need to find just eight riders in fourteen days (Gee, that sounded a lot simpler in my head). For further details, email me at nicky.debeer@telkomsa.net

Monday, September 12, 2011

Hurry! Hurry!

As I frantically switch the computer on, grabbing a bowl of cereal while it starts up (yes, it IS 11:38am already but it's the first chance I've had to have breakfast) I am already mentally typing my post in order to waste no time. You see, it has just taken forty minutes to get Protesting Smurf to sleep and I guarantee he will stay asleep for less than half of that.

So, a quick review of the past week....on Friday, as mentioned, we headed off to the paed with a temp, a cough and a snotty nose. Paed confirmed that Sam has croup...yet again. Started the oral cortisone and whammed him with a mighty dose of Pulmicort through the neb...



And when I say "mighty" it's no exaggeration, it took over forty-five minutes to completely neb the 8mls. We had to take a five minute break in between but, although he fought like crazy when we first started (as usual), eventually Sam settled down and just sat it through.

We've been having a really rough time getting Sam to eat. He was tolerating absolutely NO pureed food last week, not even porridge. In fact, there were two days where he ate practically nothing - thank goodness for Pedisure, which at least gives you peace of mind that he is getting some fragment of nutrition in. By Monday I was totally convinced there had to be a physical/medical reason for Sam's refusing to eat because at times he would open his mouth for a spoonful of food, but just not swallow it. He kept one mouthful in his mouth for over twenty MINUTES! He doesn't quite know how to spit the food out but eventually the food was reduced to nothing more than an orangey-slimey-glob and just sort of poured out of his mouth while he was crawling. So off we went to the GP on Monday, almost certain we were dealing with tonsilitis at the very least. The diagnosis? No tonsilitis, no weird obstructions in his throat preventing swallowing, no sores in his mouth...not even remotely red and/or swollen teething gums. Nothing except for a fairly mild ear infection and the persistent low-grade temp. (Did you gasp when you read "ear infection" and wonder to yourself why, if Sam has had continuous problems with his ears for the last four months, was under anaesthetic for another ENT procedure AND all the equipment to insert grommets/tubes had been rushed to the theatre moments before Sam's op because Dr S was so certain Sam would need gromments - why they weren't put in? I, along with several other doctors, have found ourselves wondering the exact same thing!)

So off we went on Monday afternoon, with another antibiotic but still completely baffled as to why Sam was not eating. Over the past couple of months I have slowly being introducing small amounts of "normal" food into Sam's diet, largely because I could see he was quickly becoming bored with purity especially because he is so incredibly fussy and eats only a tiny variety. So on Tuesday I thought that this HAS to be the problem...Sam wants to eat "normal" food all the time. I made him a bowl of instant noodles (cooked to almost a pulp, of course) and he ate it. I thought "Yay! Problem solved. My little smurf is just growing up!" 


As if it could possibly be that easy!

On Tuesday we decided to make a last minute reservation for Goudini Spa. Sam's croup seemed to be gone, he had been in better spirits on Tuesday morning and after our lunchtime success we were all feeling a little more positive. Meghan left on Wednesday morning for her very first school camp, it was a very stressful couple of weeks leading up to Wednesday as she is very much a "homely" little girl and not always comfortable spending time away from home. It would be first time she would be sleeping out of the house in a good couple of years. After a rather teary farewell (on both her's and my part) on Wednesday, we packed up and headed off for Goudini. Although Sam's eating victory was short-lived and we were back to almost force-feeding him by Thursday, the rest of our little "vacation" was awesome. The resort was a little busier than we expected, just enough to feel like we weren't alone but peaceful enough to just do what we wanted, when we wanted.

Of course we went prepared and packed Sam's dvd player in so that he didn't have to miss out on three day's of number counting!



The outside rock pool (exclusive to our little circle of bungalows) was literally a stone's throw away from our patio. On Wednesday afternoon it was warm enough outside just to make do with this pool, but by Thursday morning strong winds had set in and after some afternoon drizzling, we resorted to the undercover pool.


Sam *LOVED* the warmwater pools (there's a little video of him at the end of the post)!

Just taking it easy on Saturday......

And so, for our next really REALLY big news....Sam has an iPad! The topic of Sam's communication capabilities, or lack thereof, has been one of the main topics in our home lately. Although at one point Sam seemed to show some aptitude towards signing, we have stagnated and he makes very little effort now with this at all. He can, to an extent, communicate certain things to us by either gesturing with his hand or actually physically taking our hand and, say, putting it on a book he wants us to read. Also, as with many of Sam's RTS brothers and sisters, Sam's receptive language is excellent. He almost daily takes us by surprise by understanding things we say to him, or even to each other. There was a time when Sam did do some baby-babbling, but he hasn't done that in months and now most of his verbal language consists of grunts or a really lovely kind of sing-songing! Of course our heart's desire is that Sam will talk one day, but we need to be realistic as well and make all possible resources available to him which might make it possible for him to communicate with us. Speech has also been a regular topic on the RTS listserve recently, which couldn't have come at a better time, and one comment I read which stays in my mind and was a definining moment for me was this one (hope you don't mind Kristi) :

"Even though it's not Noah's actual voice on his I pad it is still his thoughts. So to me it IS his voice."

So Chris and I chatted...and chatted....and chatted some more. We decided that Sam will undoubtedly benefit from the the iPad, even if he is not able to fully utilise it from the beginning, and the knowledge that a large number of Sam's RTS brothers and sisters rely very much on their iPads for communication pretty much had us convinced this is the way we want to go. Our only concern and obstacle was the price of the iPad. And that's round about when Sam's precious Aunty Anthea stepped in. As a mom of two special needs girls and being extremely passionate about giving non-verbal children a voice, Aunty Anthea was desperate for Sam to have the iPad and so contributed a large portion of the cost thereof as an awesome, totally unexpected, hugely appreciated gift to our Sam! How amazing is that? We can never thank you enough, Aunty Anthea, or fully express how grateful we are to you for making this possible for us and for Sam of course xxx



So, we are slowly introducing iPadding Smurf to this lovely new device. We have looked at a couple of communication applications so far as well as some fun apps for Sam. I am hoping to make an appointment with the ST before the end of the week so that we can also have a professional input as well...but it is soooooooooooo exciting!





In closing, a videa of Sam in the warm pool at Goudini. Just before I picked up the camera, he was acting like a crazy loon...squealing and so on, but decided "less is more" by the time I pressed "record".


P.S. Sam has now been asleep for 1hr57mins.....that's the longest sleep in over a week....WHOOP! WHOOP!

Friday, September 2, 2011

Bit of an unfair trade :(

We have had to trade our much anticipated three day's of hot pool swimming, relaxing and just having a much-needed break next week for a visit with Sam's paed at 12:00 today instead, thanks to increased coughing, gagging, a blocked nose and now a temp as well. 

Is there a more descriptive, expressive word for *FRUSTRATED*?

If there is.....that's how I'm feeling!

Oh Happy Days! (Wish I could get that song out of my head...especially as those are the only three words I know! I just might have finally lost "it", folks). Oh Happy Days!

Thursday, September 1, 2011

Tuesday's post........now Wednesday's post......Oh please let's manage Thursday

You know what they say, third time lucky - so here's hoping my third attempt at publishing this post actually makes it. On Tuesday I downloaded the pics and started adding my comments but our little smurf, even more niggly than usual thanks to the onset of something viral or pneumonial...or both....was not having any of it. Tried again on Wednesday morning, no luck. Decided by Wednesday afternoon to at least just post the pics under the heading "Wordless Wednesday" but the second I settled down at the desk, two desperately-pleading blue eyes planted themselves at my feet, completely irresistable of course. So I picked our little man up and sat him on my lap, thinking I could surely manage to open the blog, go to edit posts and press "publish post", right? Wrong (again)! Ten little fingers reached instantly for the keyboard, so I pushed it as far away as what my short arms would allow only to find two little hands trying mightily to remove dad's speakers from the hard drive. Aborted Project Posting-with-Smurf-on-lap!

So I am determined to post something today so if I find myself having to stop mid-sentence, please understand :) 

We have regressed to where we were several months ago with trying to get Sam to sleep, now both during the day and the evenings. Walking/shushing him only lasts as long as he's in my arms, the second I lay him down he's instantly awake. This morning was no different, walked up and down with him for over 20 mins, laid him down and there it was. So, after an exhausting couple of weeks now, this morning I decided just to leave him in his cot to sob a little before picking him up. It's not that easy a task because of the ever-present threat of him v-wording if he cries too much and also because his wheezing and coughing does have me a little worried. Nevertheless, I settled him down, covered him with his blanket again (which he promptly kicked off) and left the room. Twenty-five minutes later, after much protesting, kicking and crying, he fell asleep and I thought WOO HOO! And now, sixteen minutes after THAT (in other words - as I sit here typing this), I can hear him moaning in his cot. Was it worth it? Absolutely NOT! My goodness....what am I going to do :(

Well up until Sam's getting sick a couple of days ago, he was doing heaps better with regards to recovering from his surgery and (as seen in the pics below) was even settling down into his usual playful and joyful self, so much so that Chris and I have been contemplating a little three-day trip next week. Meg is scheduled to go on a her first ever school camp on Wednesday so we thought, just in case, we would book into a nearby resort and enjoy the, hopefully, mid-week peacefulness there while ensuring we are closeby to Meg should she not last the entire three days away. However, with Sam being sick now we will more than likely have to cancel our plans as being in and out of the warmwater pools will probably just leave us spending three days in hospital as well. It was kinda exciting entertaining the thought of taking a break :)

In closing, some comment-less pics, whilst I go attend to Wide-Awake Smurf...
*sigh*