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)

Thursday, July 24, 2014

Five things a special needs mom won't tell you

I saw this link flying by my FB newsfeed a coupla days ago Five Things A Special Needs Mom Won't Tell You and thought Oh no! Not another thousand page handbook on how to 'handle' the parent of a child with different abilities...you know, like don't blink when engaging in conversation because it could be misconstrued as blinding pity for the mother and/or child...don't lick your lips when talking as it's a derogatory action implying you think children with different abilities are lesser human beings...and all those other not-so-helpful articles which prevent, through creating a distorted idea that engaging in any interaction with the parent/s of a kiddo with DA's is bound to be super high maintenance, the one common desire we all ache for...to just be treated like N.O.R.M.A.L.

Bleh. Normal. But there I said it.

I'm still sort of contemplating the term 'special needs mom'. A couple of years ago I never would've considered myself one of the more politically correct types on this journey...hearing people use the r-word sure irked me, but not enough that I would grab the nearest piece of cardboard and go start a protest. Now?  I really could kinda see myself doing just that. In all fairness, I have used the term special needs mom/parent myself but mostly because it's probably the most 'recognised' term socially. I've experienced a few 'huh?' moments when referring to Sam as differently-abled as opposed to disabled. You can't land smack bang in the middle of England and instantly expect everyone there to communicate fluently in Afrikaans without having had any prior exposure to it, right? But a little enlightenment here and there will soon bring us all onto the same page.

So...special needs mom, hey?...certainly there are a few needs I have which might not fit 100% into the usual 'needs' box...being able to take my morning shower in a closed shower (especially now in winter...bbbrrrrrr) without rushing to beat my allocated three repeats of the balloon song (all the while keeping an eye on Sam) before he gets agitated...the need to not have to carry empty margarine/yoghurt tubs around with me...the need to successfully find accessories and equipment which can still accommodate a five year old who has not yet mastered certain skills generally acquired much younger (like potty training)...but I am not sure these needs could be considered special.

Could it be that the 'special needs' refers to the child? Hmmmm. An interesting concept and really quite possible. But still, does Sam have special needs? Or does he have the same needs as Meghan but just requires more thereof...more patience...more guidance...more care with his health...more creativity with his learning. Special implies extraordinary...being bathed in honey...carried around in style like an Egyption emperor...fed chocolate truffles at hourly intervals...all of which I can see Sam tolerating quite well. But if not special then what - Five Things More Needs Moms Won't Tell You? Doesn't quite have the same effect, does it?

I suspect a little further contemplation is required.

And what, you might ask, does any of this random gabbering have to do with the article. Absolutely nothing. It's not a bad article, go ahead and give it a read. The End xxx

Wednesday, July 23, 2014

Apologies for soiling your charmed life m' lady

Have I mentioned that the little dude now weighs 18kg's? That's the average weight of a 'normal' five year old kid. So the slow weight gain associated with RTS has been conquered...awesome! Well...um...mostly awesome. Just the 153cm's of mom carrying those 18kg's of awesomeness around is taking a little strain. And while most of Sam's body grows sturdy and strong, those little lower legs seem to be fading just as quickly. So walk the smurfy lil dude must.

Sam is having to re-master his walker. When he first got it, he used it the wrong way round as his fears and anxieties kicked into overdrive when encountering life so far off the ground, without any form of protective shield in front of him. To start with I was just so thrilled to have him straying from his knee-walking at least a little that I didn't consider the repercussions. But seeing that Sam was adopting more of a 'pushing' stance made me realise that he was in no way strengthening his core muscles which he needs to do if walking unassisted is ever going to be an option and also, he was in actual fact being given a false sense of security...much as a baby's walking ring would. No wasted moments though, he simply would just not have used the walker at all otherwise. Baby steps, see :)

Having grown more confident using the walker correctly around the house and at therapies, I decided it was time to hit the big, bad world! Off we went to our local Spar, the same place we tried out the 'incorrect' method. Determined to avoid all things 'normal' the first place Sam heads is....the fruit and vegetables aisle! He has a fascination with, mostly, bananas and pineapples and it is very seldom we leave a store without bananas so if ever you run out, you know where to go.

It would be fair to say that using the walker this way, which makes his dragging right foot a little more pronounced, certainly makes for an awkward-looking gait but hey, my general all round clumsiness and tendency to trip over non-existent obstacles makes me look a little awkward too. His smurfy swagger usually brings a smile from others, occasionally a pretending-not-to-stare stare and sometimes...a little more often than it should...a very purposeful look of disapproval.

Disapproval? Why so?

Because I have dared to expose our 'tragedy' to those who know nought of such things, who resent you for imprinting even just briefly upon their minds the fact that such 'imperfections' even exist.

Sound like an oversensitive mommy rant to you? Tis not! And here's why I know...as the deliverer of this disapproving look squeezed passed our awkwardness, my 13yr old daughter...usually preoccupied with watching herself doing various renditions of 50 Epic Dance Moves in the shop windows or reassuring me that she would not have jayboarded straight into that oncoming car had I not literally grabbed her by the collar...paused mid-Meghaness to note how Sam and I were both being scowled at. Like, wow, really???

Now it's fairly easy to understand why, although I see plenty fellow-journeying moms at therapies or out in force at get-togethers, I very seldom run into them in random places. It's really quite sad, don't you think? Iris House Children's Hospice gifted us all with these wonderful little 'ice breaker' cards for our kiddies...I'm going to ask them to add to Sam's, in big bold print, NOT FOR SENSITIVE VIEWERS! 

Nah...just kidding :D

Thankfully, our little 'really?' moment is completely overshadowed by more heartwarming incidents like when a friend, at the same store, has already packed herself, her family and her parcels into her car and is about to drive away when she spots your smurfy entourage across the parking lot and leaps out to hurry over and say hallo!!! A small happening to some, a meaningful heartfelt gesture to others xxx

Saturday, July 19, 2014

And here's why...

...(for those who might ever have wondered) it is not a fab idea to have your overwhelmingly anxious child's dentist located in a shopping mall you frequent. Beeeeeecause...surprisingly...when three consecutive trips to said mall are purely for dental consults (the last of which ended in Meg and I discreetly trying to dispose of a margarine tub full of puke) certain smurfy lil dudes presume that every visit thereafter will involve more of the same. So it was with a touch of our own anxiety that we went off to run a few errands recently. When merely walking towards the entrance (on the completely opposite side of the mall) Sam transformed into a teeth-chattering, uncontrollably-shaking little bundle of nerves so Meg and I agreed to make it a super fast dash through the necessities, avoiding that side of the mall at all costs. How entertaining to, literally moments later, bump into.....guess who....Sam's dentist. Eeeeeeekk! After a quick exchange of niceties and firm reassurances that Sam was not, in fact, succumbing to hyperthermia we rushed through the centre like a couple of crazy loons and came out on the other end triumphant! I mean really, every puke-deprived outing is something to celebrate, right?
 
After spinal cord surgery, 2 x testicle surgeries, thumb surgery and a few ENT procedures here and there who would have imagined a dental procedure could be anywhere near as traumatic. After having our original theatre date bumped further along thanks to a doctor and his ego (not even gonna go there) which resulted in an unnecessary additional consultation (which would be the one that involved that dodgy marg tub disposal) we eventually made our way to the day hospital last week Tuesday. On the agenda was the removal of one tooth on the side which the dentist suspected might have had an abscess on it for some time, filling what ever else required it, applying sealant and then the removal of that little front, chipped tooth which was the one we were most concerned about as, having ground the tooth literally down into the gum, Sam had left nothing left to be gripped which meant the tooth literally had to be cut out of the gum. Sam was relatively calm until the moment we entered the theatre. Whether it was the absence of a pre-med, the presence of the dentist or the fact that the gas was administered at a much slower rate than usual...or a combination of all three...Sam freaked out. And by freaked out I mean he kicked, body slammed, smacked and pulled anything and everything he could make contact with. It was by far the most traumatic anaesthetic out of eight, we've ever experienced and left me feeling extremely unsettled and disorientated as I made my way back to the ward. Once the almost two-hour long procedure was over the dentist came in to advise that all had gone well. There certainly had been a nasty abscess on that one tooth which had drained once she pulled the tooth. She advised that both sets of stitches would dissolve in about 8 - 10 days and shortly after that we were on our way home. Over the next couple of days I kept a careful watch on Sam's wounds, focusing mainly on the front one where the tooth had required cutting out as it looked a little more "brutal" than I'd anticipated. On Tuesday morning I noticed that the gum where the abscess had been was very red and inflamed. I took a pic and e-mailed it to the dentist :
 
 
She felt that Sam might be having an allergic reaction to the suture and suggested I try removing the stitch. Um...sure...why not? After trying for almost an hour on Tuesday evening, I could not get Sam to stop flapping and head-rolling long enough to get hold of the stitch although he'd quite alarmingly allowed me to fiddle around in this mouth without much protesting. On Wed I took Sam off to the GP to see if she couldn't perhaps remove the stitch but once again Sam's flapping got in the way and so we made our way home with both the stitch and a prescription for an antibiotic to at least try and clear up the infection. On Wednesday evening, desperate to just put all this toothy business behind us, I lay on the bed with Sam and every couple of minutes would snip lightly at the knot and low-and-behold the darn thing came loose after a couple of tugs. Wooo Hooo! Hopefully the antibiotic successfully does it's thing and we don't have to even think about a dentist (nothing personal of course) for another six months.
 
Other than all things tooth-related, life has been low-key with the exception of a particularly exciting walk around our local pond all thanks to a psycho, stalker bee who mistook me in my violet fleece top to be a giant helping of something pollen filled and despite hysterical screeches and bee-deterring dances (much to the delight of fellow pond-visitors) lay in waiting as we completed our stroll to launch yet another farewell attack. Thankfully the random stroller parts which were hurled at it and frantic swiping and side-stepping eventually allowed us to escape. From now on, only black or grey garb shall be worn on sunny winter days when trying to remedy a bit of cabin fever with a leisurely walk. Pfffft.


One of Sam's current fads...umbrellas! We are so passed the whole "opening an umbrella indoors is bad luck" scenario :D
 

And for sure the only kid who is more fascinated by the scrolling numbers on the dvd player than the actual dvd playing.
 
It was several kinds of wonderful to get out of the house on Friday and spend some time with fellow journeying moms, made that much more appreciated by being treated to lunch by the Daniel and Friends Fund ladies, as well as each being sent home with a pack of nappies and tin of Pediasure. It being a different mall to that mall Sam was pretty chilled, despite it being over a busy lunchtime, and absolutely adored all the attention he got and precious new friends he and mom made...a truly blessed afternoon it was...

 
 
Many thanks to Marilyn, Kate and Lianie xxx

 

Thursday, July 3, 2014

World RTS Day ♡ Why awareness is essential

Today, all around the world, hundreds of families are celebrating challenges overcome, journeys embraced and the incredible bond which exists between us,  all brought into being through a shared diagnosis of Rubinstein-Taybi Syndrome. A common sentiment rings loud across many...Rubinstein-Taybi Syndrome (or any other condition for that matter) does not define who our children are. 

I do still feel quite strongly about a particular element of our World RTS Day.  RAISING AWARENESS. And here's why...

Sam was delivered through an emergency c-section, two months prem, in severe distress. There was no cuddling on the delivery table, no pics snapped through happy tears by dad. In it's place a blue, lifeless body... barely 3 apples high... (aaahhh...smurf?) was whisked briefly over me to an awaiting incubator amidst mutterings of "abnormal" and equally devastating words.

Before I'd even had the chance to meet my little smurf, the paediatrician delivered the diagnosis. Rubinstein-Taybi Syndrome. 

The prognosis? 

Sam will never walk. Sam will never talk. A high risk of cancer can be expected, as can an average IQ of 30. A feeding tube was on the table as too was a look into a 'home'. No cruel intent on the part of the paediatrician,  he was sharing what he knew of RTS...which, having never heard of it before, was precious little. Hours later I made my way to the NICU filled with mind-numbing fear of what RTS was going to look like, feel like. But lying in that incubator, attached to an oscillator and way too many other tubes and needles, was a now purpley-blue little form...still barely 3 apples high with an oversized white hat. For me the diagnosis and subsequent prognosis fell into a deep, black hole to be revisited some other time...there was just too much loving and bonding and nurturing happening to care. 

But what if I wasn't me? 

Considered a high-risk pregnancy because of my age, my gynae asked early on into my pregnancy of I would be opting for an amnio. My answer was no, regardless of the result of any test termination would never be an option for me. Not at all a judgement, merely a fact. But what if I was perhaps a very young woman, unmarried, at the start of a promising career or even without any hope of financial comfort and not particularly swaying to either abortion or pro-life with any substantial conviction. What if, early enough into my pregnancy, RTS was suspected and I was delivered the exact same information? My choice, sadly inadequately informed, might well lead me to a decision which deprives the world of one more RTS sweetie. 

Raising awareness of Rubinstein-Taybi Syndrome, and other rare and unknown conditions, is vital. It will ultimately lead to doctors who are better equipped to prepare parents for the journey ahead by immediately creating a trusting affirmation that he/she knows what they're talking about and not merely rushing frantically to the nearest search engine to consume the exact same medical entries we as parents can. Sharing details or posts of fellow RTS families could help diagnose those who through lack of limited resources have slipped through the system. A perfect example for our avid Mr Tumble fans - little Lauren! Family and friends instantly recognise her as a sweetie with RTS. Had they not known Sam, she might not have stood out from all the other crazy-adorable kids in those videos. I never miss out on an opportunity to educate, waiting eagerly for the slightest indication in any interaction with a stranger to do so...sometimes they have me at 'hallo'!

So what if our young, unmarried mother with the fabulous career and life awaiting her was told the following instead:

Your child might not walk...unassisted. But will move around like a pro with the assistance of a walker, however most children with RTS do actually walk unassisted and even participate in sports like soccer and baseball and so much more. 

Your child might not talk...the same way you do. However they are more than adequately able to express themselves through sign language and AAC's, sometimes with delightful quirks of good humour. 

An average IQ cannot be predetermined as all folks with RTS, while sharing many similar traits, are also unique in their development and abilities. However knowing all the numbers up to twenty by the age of 2 can be expected,  as too can colours, shapes and the alphabet by age 4 and 50+ hand signs. 

Your child might be prone to tumours and cancer due to the gene which is effected, being the gene which produces the body's binding protein and is responsible for suppressing tumors. But with the ever-increasing number of people falling prey to cancer, can any one person be excluded from this possibility. 

In addition to the above, your child might have to face many medical challenges like seizures, a tethered spinal cord, immune issues, feeding issues, reflux and a few more. But a home filled with humming, twinning, happy-flapping, joy, admiration, determination and unconditional love is most definitely on the table. 

Creates a different picture, doesn't it? Education, information,  raising awareness. Vital.

If you had to ask this awesome bundle of smurfiness if, even for just one second, he'd ever felt his life was not worth living- what do you think he'd say?


If you had to ask this mom if, even for just one second, this child was not worth loving - what do you think she'd say?

A Rubinstein-Taybi Syndrome diagnosis should not be the end of a journey,  but the start of one ♡