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, February 23, 2014

Dunkin' Smurf

Sam has acquired a new bathtime habit...dunking his Tintin-style 'kuif'. The funny thing is that normally he doesn't like water in his face, but when it's dripping off his own fringe it's apparently less troubling. Today was the first time he managed a few smiles and giggles. This whole mom-out-of-action thing is really taking its toll on him and he's even started lashing out at Gramps, often smacking him or trying to pull his almost non-existent locks when Gramps has to take him from me for a nappy change or similar task.

This whole foot injury is one of the most frustrating things I've ever had to deal with for sure. And seeing new bruises and swelling popping up almost every day is really starting to eat away at my little fantasy that after a quick examination on Friday morning,  the orthopaed is going to tell me the foot is okay to start walking on. This is going to be the longest week ever :(

Possibly also adding to Sam's irritability is the fact that despite having polished off his last dose of antibiotic this morning, he was still sporting a low grade fever this afternoon...can only hope that it's not indicative of a more persistent throat infection :(

Thursday, February 20, 2014

Nocturnal Smurf

Crocodile Samdee :)

Nocturnal Smurf was my original heading for this post after Sam pulled another all-nighter amidst several evenings of his usual sleep-challenged nights. Sam's only second ever art class was to be held at our house on Friday. It seemed like a good idea at the time but when Friday morning dawned and Sam had very few hours of sleep to brag about I started feeling a little anxious about Sam's ability to peacefully allow his friends to explore his territory. While Sam did not really participate in the art activities himself, he was unexpectedly okay with having the group in our small house and actually enjoyed quite a few delightful moments watching the others playing and putting on a show for him. Yes, there were one or two narrowly-escaped hair pulling and toy throwing incidents but at the end of the class I felt
the art class had been a successfully interacted experience for Sam, minus the actual art of course. 

Sam was fairly exhausted by evening and fell asleep quickly... and awoke just as quickly somewhere before midnight, not shutting his eyes again till 8:36am on Saturday morning for a two hour nap. 
There was bodybashing, crying, frustration, desperation... but no sleep. Oh... and there was fever... and vomit. Saturday and Sunday both flew passed in a haze of exhaustion and more of the above while trying to attend to necessary tasks, like laundry, in the 40ºc heat. Somewhere round 6pm on Sunday I remembered I'd done a load of washing and forgotten it. With the heat still stifling at that time I chose to quickly hang it out and it was in my haste that I trod incorrectly on an uneven piece of ground and popped my ankle. 

Off we rushed to the local trauma unit where after 4 hours of waiting and 6 x-rays the on call doctor determined it was just a bad sprain and after applying a bandage, sent me on my way with instruction to keep off the foot for a week. I was a little uncertain of her diagnosis but anxious to get home to my sick little man. 

With Sam being really miserable and clingy it was a little difficult to keep my leg elevated and while I didn't stand on the foot,  I most certainly had to resort to a little weight beating. 

By Tuesday morning Sam's temp was still hovering around 38ºc despite meds so I made a doc appointment for him. Chris' phone rang several times during the consultation from a somewhat familiar number but we did not want to be rude and answer it. Upon returning the call we were advised that my x-rays had gone to the resident orthopaedic surgeon who had found a fracture. 

Pretty handy info to have had 36 or so hours earlier, or what?
Next step (or rather clumsy crutch-clutched lurch) was the fitting of an aircast and the countdown to a follow up        consult on the 28th. Over and above the pain and discomfort of this bulky apparatus in the middle of summer is the rather heartbreaking issue of not being able to take care of my lil smurfy dude... especially when he is ill :(

Monday, February 10, 2014

Take a bow my anti-special friends

I have noted, often with amusement, the very many different reactions that one little word can ignite amongst those who too are navigating life with a differently-abled child/children.


An almost irrational anger expressed by some when a post is shared repeatedly on Facebook declaring that moms of kiwida's (my new term for kids with different abilities) are special. The awkwardness when someone gushes at what a special job you're doing raising your kiwida's but then the immediate pride when another kiwida mom tells you the same thing.

Before encountering life with kiwida's the word 'special' generally stood for all things good and was a special occasion, I'm wearing my special outfit, you have a special place in my heart...and so on. And then an unexpected diagnosis is thrown at you and suddenly special just ain't so special anymore.

One of the first things I felt when Sam was born (besides mind-numbing, stomach-churning fear) was loneliness, which I'm sure many have experienced too. Not due to lack of companionship but simply because we'd landed in Holland instead of Italy with everyone else. There are so many of us who just want to be one of the crowd, to belong, to be accepted...and 'special' almost certainly hinders that.

But then I encountered another fascinating phenomenon.

Over the passed few months I've encountered many new faces, all smiling through the often heartbreaking challenges of nurturing children with conditions like Aicardi-Goutieres Syndrome, Muscular Spinal Atrophy, Rett Syndrome, Metabolic Syndrome CDG1c, Leigh Syndrome and a few others I can't even pretend to spell, and have noticed that while parents of kiwida's generously compliment other parents of kiwida's on their courage, dogged advocacy and unfaultering love for their children, they themselves struggle to accept the same sentiments.  Perhaps that is why 'special' creates such an uncomfortable feeling within us...we don't see ourselves as better or wonderful, we don't see our children's needs as better or wonderful. Simply because we're/they're not.

I have often responded to such well-meaning gestures by saying "you'd do the same" because I truly believe it. Parents of kiwida's discover courage they never knew existed within them, are filled with a passion that sometimes frightens even themselves and strive for conquests that many take for granted...because they have to. And while few would embrace such challenges in any other way, it does not take away from those who already have.

Daily I am inspired by parents of differently-abled children who have taken these uniquely-acquired life lessons and drawn from them the courage and motivation to provide much needed support groups, advocate equal privileges, raise awareness, heck even challenge a legislation or two all while attending to the specific needs of their families. Special? Maybe not. But certainly worthy of a well-deserved bow and applause.

Saturday, February 8, 2014

Cloudy with a chance of vomit

Wow! Am I glad to see the back of this passed week - heck yeah! That brilliant night's sleep Sam had on Monday night? It was not a taste of more good things to come...rather a kind of cruel antagonising of what we're missing. So needless to say there was no sleep on Tuesday night, not many wet nappies but a whole lot of wet everything else as Sam indulged us in some fantastic displays of projectile vomiting.

Wednesday...I get tired all over again thinking about it. More of the same except with the added variety of an evening trip to the ER after Sam decided to partake in a little light acrobatics off the bed. Yip, screams of hysterical panic could be heard for miles...even Sam was crying. Once Sam had received a once-over by the on-call doc and bestowed generous amounts of his poorly digested dinner throughout the ER, he at least managed a degree of decent sleep.

I was thrilled to wake up to a wet nappy on Thursday morning and even though Thursday brought with it another bump on the head when Sam backflipped off his little push-bike, his bladder seems to have returned to it's usual 2-3 hour routine. And so too have we returned to a rather challenging 3hr average of sleep at night. While I'm sure grateful the lil dude's bladder seems healed, it definitely was not the contributing factor preventing him from sleep. A little disappointing...but we press on, a little baggy-eyed and cloudy-minded...but on nevertheless.


Tuesday, February 4, 2014

We're having a wee problem

And by "wee" I don't mean small because it's certainly not a small problem at all.
With Sam still sleeping poorly and still going way too many hours without passing any urine, we popped off to see his paed yesterday. Sam's bladder was somewhat distended and very full so Doc Paed marched us off to radiology for some vomiting (inevitable)and a scan. The scan showed about 50mls of  'sludge' in Sam's bladder and a slightly enlarged right kidney. Doc Paed's thoughts on the 'sludge' is that it might be some debris from one or more of Sam's current meds. So the plan of action for the next five days is to hold up on the Faverin (anxiety) and Motillium and start Sam on some Cardugen, which should relax the muscles in the bladder and hopefully bless us with more frequent wet nappies. An added bonus Doc Paed mentioned is that the Cardugen might help relax Sam overall and make for some much-needed sleep.
And that it did for sure. Sam slept a solid 11 hours last night, hardly moving at all...

But Sam's nappy stayed dry for another 14.5hrs despite the Cardugen apparently taking only 2 hours to start having an effect. Doc Paed advised that going 6 hours without passing urine is reason for worry so 14.5hrs plus plenty fluids and a dose of the relaxant is a little stressful. This morning he decided to add an antibiotic too in case there's an infection lurking somewhere that we can't pinpoint.  Being Motillium-free is also going to be rather entertaining as the Motillium prevents vomiting and helps the stomach empty a little quicker so, with Sam's tummy emptying at about the same pace as a snail doing the Comrades, we're surely up for some v-wording.

On a good note (well kinda) my body was so relieved and grateful for a decent night's sleep last night that it blessed me with a truly wonderful dream. I dreamt we were sitting at the diningroom table and all of a sudden Sam WALKED passed and I was like WOW! I so get Jessica's (Sam's RTS brother Alex's mom) post from almost five years ago when she blogged one day about sitting on the sofa and all of a sudden seeing Alex's head bob passed and how seeing him walking was quite surreal. I woke up all dream-happy and even slightly excited at merely just the thought of Sam walking someday. Truly can't wait.

But first, there's gotta be pee!

Saturday, February 1, 2014

Daniel and Friends Fund

A friend and I were chatting recently about the almost instant camaraderie when parents of differently-abled children meet for the first time.  Sometimes it's almost as if there's a sixth sense present which tells you the other person has insight into your journey before you've even exchanged's the sensitive way in which they enquire, it's the "knowing" way in which they listen, it's the empathetic yet free-from-pity way in which they offer support. It can be a technician during a routine mammogram, an occupational therapist whose compassion is channelled from somewhere deeper than just her patients, a friendly fireman delighting a homeschooling group at the local fire department.
Nobody knows your fears more personally, shares your joy at small achievements more fervently and understands your disquiet about the future quite like someone who too has felt those very emotions. Having the support of your family and friends is vital when navigating the less-travelled path...but having the support of fellow travellers can be nothing short of a lifeline. And a passionate and very determined trio of moms has taken this sentiment just that little bit further and formed an organisation which focuses specifically on providing this very support. They, together with their children's paediatrician, are the founders of the
Daniel, who would have celebrated his 4th birthday today, lost his battle with Leigh Syndrome on the 23rd of August 2013. Exactly a week before that Daniel's little friend, Mariele, passed away due to complications related to Aicardi-Goutieres Syndrome, which Mariele's younger sister Liza also suffers from. (I have mentioned Liza before, perhaps not by name, as she is the little sweetheart who is solely responsible for every ounce of Sam's attention flying out the nearest window when her and mom, Kate, arrive for their OT session straight after ours). Daniel and Mariele's moms, dedicated to keeping their childrens' spirits alive by using their passing as the driving force behind their passion to help other families with differently-abled children, have joined forces with the mom of Johan and Sanel, both diagnosed with Metabolic Syndrome CDG1c, to be able to offer not only financial assistance when needed, but also assistance in the way of emotional support, training and education  related to caring for the child, raising awareness by means of community and educational programs and mass media campaigns...the first of which began with the very successful (and emotional too I might add, even for those who never had the delight of personally knowing Daniel and Mariele) launch of the Daniel and Friends Fund last Thursday evening.  

A brochure offered at the launch, together with business cards and a complimentary chocolate, all detailing the professionalism with which the Fund is being approached.
The monthly costs involved when caring for a child/children with different needs can range anything from R5,000 to R35,000 so it goes without saying that monetary contributions are much needed.  But for those who are not in a position to assist in this way, the Fund gladly welcomes donations in the way of no-longer-needed equipment/accessories like prams, carseats, feeding chairs, rocking chairs, apnoea monitors, nebulisers, etc; daily care supplies like nappies, wipes, barrier creams; clothes; volunteers willing to be trained as carers, etc.
But right this moment, the most effective way you could help would simply be to click on the link below and assist in raising awareness by Liking the Daniel and Friends FB page and, of course, share...share...share!!!
There's the well-known saying :
"Some people wait for the storm to pass. Others learn to dance in the rain"
Well, boy, can these Mama's dance!