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)

Thursday, June 26, 2014

Little Mr Smarty Pants

There is a song...about balloons... and colours...on Youtube. It is called... wait for it..."The Balloon Song (for learning colours)". Go have a listen. I did try download the link so I could share this delightful song with all of you but it automatically starts playing this song of delight and as the lil dude is lying sleeping next to me I can think of nothing more irritating right now than having him wake-up and demand to hear The Balloon Song. 

And demand he will because Sam listens to The Balloon Song on average (and no, 
this is no exaggeration) about 50 times. Each and every day. And while I don't deny the role The Balloon Song has had in Sam learning his colours, it does not take away from the fact that it is the most stuck-in-your-brain-like-no-other-song-in-the-history-of-all-songs kinda song. And yes, at random intervals throughout the day we will all find ourselves, to our horror, singing The Balloon Song.

And yet still, none of us have quite memorised the correct pattern of the song as Sam has. On Thursday evening Sam and I were enjoying our usual bathtime singalong and started on our first rendition of TBS. I sang 'red balloon', Sam signed 'red balloon'. I sang  'blue balloon', Sam signed 'blue balloon'. I sang 'green balloon', Sam signed 'white balloon'???

Uh no Sam... it's green after white. Started over but the same thing happened. And again. Eventually I asked Meg to bring me the iPad so I could help Sam right. The song started (feel free to sing along folks)

'Red red balloon, floating in the sky.

Blue blue balloon, floating up so high. 

(See? The lyrics are riveting!) 

White white balloon.....'

Say what? What happened to green? Oh pish posh. Green? White? What's the big diff anyway? Lol! 

Only after did I think about the dangerous can of worms I might have opened by bringing the iPad into the bathroom but thankfully there was no request of this kind from Sam the following night. And nevermind twinning (a fascinating quirk RTS peeps have which requires that they be, for instance, watching the same movie on their iPad and the tele at the same time) Sam has now acquired Tripling... with TBS on tv, on his iPad and homemade balloon flashcards for that extra tactile effect!

We've had a bit of a disappointing setback with Sam's teeth. Sam was meant to undergo a dental procedure this coming Wed to (finally) remove that little chipped front tooth (little as in milktooth and the minimal amount of actual tooth left after being ground right into the gum by the bottom tooth). However the dentist's office phoned on Friday morning to say that there's been some or other misunderstanding and Sam's procedure has been rescheduled for the 23rd July. What??? I'm having to keep the kid on 4-hourly doses of painmeds to limit the amount of mouth-bashing and obvious pain and discomfort he's in. Just waiting till the 2nd was gonna be a long stretch, how will he manage till the 23rd. Very distressing indeed. We all know how awful a toothache can be. So we're trying to get another anaesthetist on board who might be able to fit Sam in on the 11th July... please hold thumbs that this works out and he doesn't have to endure another 25 days with this wretched tooth :( 

Thursday, June 19, 2014

So about that further comment upon completion of processing...

...we received the official report from the neuro-paed this morning. Sam's newly adjusted diagnosis now reads Rubinstein-Taybi Syndrome, Cerebral Palsy and secondary Autism.

I knew it was coming. I attended a lecture a couple of months ago given by JP Maes on the Maes concept for physiotherapy in kids with CP or similar neurological disorders. I was tagging along as the very minor contribution to the "similar neurological disorders" group. Within minutes into the lecture both the information being shared by JP as well as the little boy being focused on in the  documentary, had me sitting up straight. There were just too many similarities between this little boy and Sam at that age. That, the information I Googled on periventricular leucomalacia and Dr neuro-paed's comments during last week's examination on lesions caused by brain bleeds in utero, abnormal reflexes, etc had me comment to Chris on the way home already that she was thinking CP.

The report also advised that Sam was aggressive and seemingly frustrated...and that he certainly has been for the last 2-3 weeks. So much so that we had to make like a hermit for pretty much most of that time. And yesterday we found out why at Sam's dentist appointment. He has three teeth which have decayed all the way down to the nerve and, according to the dentist, he must be in severe pain.

Aaaahhh...the joy of verbal limitations.

About two years ago Sam chipped his front tooth on some sushi (plastic Nemo in the bathtub). It was noticeable but not too problematic. A few months later the tooth was further chipped during an intubation. Over the passed few months Sam has progressively ground that tooth right down to the gum with his bottom tooth and about a week ago it started turning brown. Hence the dentist appointment which, thankfully, lead us to the two 'brown' molars at the back which haven't even properly broken through yet. So on the 2nd July we'll be doing our second and hopefully last anaesthetic for the year. A bit of a wait and not so wonderful theatre time at 11:30am, but what can you do  *shrug    

Sam's current infatuations are carousels and flags. (Thanks Mr Tumbles) The flags are an easy enough hit, a short drive just through town usually has Sam exclaiming in excitement. Carousels? Little bit of a more challenging find they are. Luckily there is a small 3-horse carousel in the same centre as the dentist. Walking passed it was an absolute squeal (literally) for Sam on Monday, which was a public holiday and ensured that the carousel was constantly being ridden by other kids, to Sam's delight. As with most of Sam's infatuations, he prefers viewing them from a distance and shudders in fear if you get too close.

Sam was so well-behaved at his dentist appointment yesterday and allowed a thorough examination of his teeth, albeit through some harsh sounding but luckily unproductive gagging. Seeing as he'd frantically started signing carousel the moment we entered the parking lot, I promised him a stroll plastit after our appointment. What a bummer!  Mid-week morning meant no carousel-riding kiddies for Sam to watch :(

My makeshift homemade 'safer' Sam-friendly variation on a flag...he seems happy enough!


Tuesday, June 17, 2014

Eating Matters

One thing about sensory challenges, life is never boring or predictable. And today's no-no's become tomorrow's acceptables at the drop of a spoon...and vice versa.  
Up until a couple of weeks ago Sam was sporting a ferocious Cipla Actin-induced appetite which was satisfied by nought and which almost always overpowered his sensory aversion to his usual no-no foods. One night, having just finished dishing up our supper, Sam spotted my plate of chicken and whatnots while I quickly pureed up his own food so that we could eat together. Sam kept pointing at my plate and signing "eat" and eventually, in the hope of trying to finish his dins off in peace, I obliged and gave him a mouthful and waited for the gagging.  A minute or two later his mouth was empty! I was like "What? Really"? I'm standing here mushing up meat and veggies while you just smoothly chewed your way through CHICKEN!"
Keen to make the most of this sudden new accomplishment I offered Sam another bite and yet another and then eventually we all settled down to eat. My eyes caught a glimpse of something brownish-yellowish on the wall. And then another such blob on Sam's play mirror and yet another on the floor. I asked Meghan to see what it was, but she just shrugged that she couldn't make it out. Closer investigation revealed the unknown matter....chewed up chicken! What a laugh we had. And a few days later when Sam insisted on some unpureed cottage pie from my plate we saw exactly how the chicken had landed up plastered all over the place...he would chew it to the point of no recognition and then frantically brush it off his tongue and just fling it. Funny little boy :)
I have since removed the Cipla Actin from Sam's meds as I think it was largely contributing to his misery by making him almost insatiably hungry but still offer him new textures all the time. This afternoon Meg and I had egg and mayo sarmies for lunch and Sam quite likes egg so I made him his own half a sarmie.  Sam still shudders with displeasure if you make him hold and bite his own food. If you break up a cookie and give it to him in a bowl he will easily enough eat it as it requires a limited amount of handling before it is safely in his mouth. But as yet he doesn't seem able to tolerate the sensation of having to bite off pieces of food...and his egg and mayo sarmie was no different. Every time the filling touched his mouth he shuddered. So this is how egg and mayo sarmies are eaten in Smurfville...
So at last week's neuropaed appointment, Sam was prescribed some Risperdal to try and manage his, currently, very high sensory and anxiety issues. I was really worried about having to try yet a new med but NNP assured me that Risperdal is very often successfully used in children with Autism. We are on Day 6 so far and although we were told that we could only expect to see a real difference in about 3 - 4 weeks, I do have to admit that there is already some improvement with being able to cope with issues which would usually send Sam over the top. The previous Sunday we had attempted a short trip to a local shopping lasted all of about 30 seconds and ten steps into the mall before Sam just freaked out and he and I spent the remainder of the trip in the car singing "What's your favourite colour?" This passed long weekend we managed not one but TWO shopping trips with very little difficulty. In addition, as hoped for by NNP, the Risperdal seems to be having an effect on Sam's sleeping too and we've had only two really disruptive nights out of the six. Here's hoping this is that much-needed light at the end of this particular tunnel :) Tomorrow's dentist appointment is going to be the real test (Eeeek).

And when life becomes too challenging, we swing...... 
...and swing some more xxx 

Thursday, June 12, 2014

This just in....

...just had a call from NNP who, after our consultation on Tues, thought it best to go over Sam's brain scan images with a radiologist.

She confirmed the presence of the periventricular leucomalacia, advised that the previous radiologist had mistakenly advised us that Sam's Corpus Callosum is in tact as, on the contrary, a third of it is absent...and kindly referred me to someone who could help both me and Sam with coping mechanisms for Autism.

*further comment to be uploaded upon completion of processing  :)

Tuesday, June 10, 2014

Hey! I was happy in Holland :(

There must be very few special needs parents who have not, at some point,  read through the piece by Emily Perl Kingsley...
I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland.""Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."But there's been a change in the flight plan. They've landed in Holland and there you must stay.The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland."
And the thing is, I was doing quite okay in Holland...tulips and windmills have become my 'thing' and I have become very passionate about the lovely things in Holland that those in Ireland miss out on. 
But now, after five years in Holland we're being pushed along to Belgium.and I'm like NO! That's not fair, we've laid our hearts in Holland. Why weren't we at least given the choice, seeing as we were bumped from Ireland, of whether we would prefer Holland or Belgium. I mean really! It's.just.not.fair! Okay sure, it's not like we're off to Egypt which would be a more radical change but there's only so much vacationing a person can handle. And if we absolutely HAVE to go to Belgium couldn't somebody have told us that in the beginning? Like hey guys, instead of going to Ireland you guys are going to Holland AND Belgium...some times you'll spend a fair amount of time in one before needing to cross over to the other but there will be times when you'll have one foot in Holland and another in Belgium. 
Yeah, that would definitely have made for a much smoother transition. Smooth is just not how this ride has being going lately...
The amazing news that Sam does not have the Agenisis/partial Agenisis of the Corpus Callosum more often associated with Rubinstein-Taybi Syndrome and that there has been no retethering of the spinal cord, had us all in a jovial mood and so we planned Sam's first ever birthday party. 
I suppose I can be 100% honest and say I truly believed that Sam would be walking by his 5th birthday. Heck, I thought he'd be walking by his 4th birthday. I read an article round about the time of Sam's birthday about 'living loss' or recurring grief which effectively is repeatedly dealing with the loss of the child you thought you were going to be bringing into this world. While I completely relate to the concept of the recurring grief (which can be brought on by occasions like birthdays) I do believe that, in spite of his RTS and more recent additional 'issues', the little personality inside from which shines his sense of humor, his affection and his smurfiness, is the very essence of Sam which would be the same regardless of the 'packaging' it came in. For me it's not so much a case of mourning the loss of the child I never had but more mourning the struggles the child I do have, has had to battle through and more heartbreakingly, those still to be encountered. 
The Monday before Sam's party I was asked to forward the MRI report to the new neuro-paed we were scheduling an appointment with. Only then did I realise I'd never seen the report so requested a copy from the radiologist and forwarded it on, only taking the time to read it myself a couple of days later seeing as I already knew what was in it. Or so I thought. 
And there it stood in black on white that the Corpus Callosum is in tact and that no syrinxes have formed on the spinal cord as a result of the original tethering. It said that the conus now lies on the L3 vertebrae which I can't say I was fabulously impressed with but because no post surgery MRI was done we don't know if this is the original post-op result.   
The report also contained the following :
"Multiple periventricular low T1 cysts are demonstrated likely consistent with Periventricular Leucomalacia sustained during perinatal life.
A lumbar segmental anomaly is identified with sacralisation  of a lumbar-type vertebra....Contiguous disc bulges are identified at the L3/4, L4/5 and L5/S1 levels.
Spina Bifida from the L5 to S2 levels.
Supratentorial, periventricular leucomalacia is identified."
Turned to the front page to make sure this was definitely Sam's report. It was :(
Well Hallo Belgium!
After reading through more of the report and with a little help from Prof Google it seems that the correct term for the lower vertebrae condition would be Spina Bifida Occulta . And the rest of the stuff? Who knows. Thankfully though our appointment with NNP (new neuro-paed) was bumped up from 22 August until, well, this almost exactly two hours to be precise. That type of being bumped I can handle.
But despite feeling a little blindsided by all the new info and more than a little battle-weary, we partied :)
Jumping Castles are one of Sam's current Aunty Cammy insisted on providing him with one for his birthday.
Fad or not, Sam was a little unsure at first but soon got into the spirit of things
Teletubbies meet Buzz Lightyear...Telebuzz's? Buzztubbies?
Another, rather trying fad, books! books! books! Sam goes nowhere without a book, he bodybashes himself to sleep holding a book and more often than not falls asleep on top of it, he swings with a book, eats with a book, has a nappy change with a book. So can you imagine how much fun bathtime is? And yes, we've tried the waterproof baby bath books...they just don't provide the same quality of sensory input that flipping through pages and biting covers does. Until we find a suitable alternative or until (oh yes please) this fad passes, bathtime every evening will be accompanied with hysterical help-I'm-being-murdered-screeching blaring from our home.