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)

Saturday, March 12, 2011

Desperate for Relief!

This last week started out a bit shaky as, as mentioned in a previous post (I think), Sam has been having very restless nights, waking up several times each night. I put it down to teething as he is, along with his four molars, now cutting an additional two teeth - his incissors. So there were moments of misery and irritability but nothing yet unbearable and we still enjoyed a visit with Aunty Cammy and Uncle Damien on Sunday afternoon, where Sam tried out some new fashion shades :

And then on Sunday evening Chris' excitement got the better of him as he had been ITCHING to give Meg her birthday present which we'd bought and hidden a week before that. So, a week in advance, Meg was presented with her new pressie and, also caught up in the excitement, she could not wait until the next day to try it out so braving the cool evening air and darkness in her summery pj's, she went for a test drive :

It has always been difficult to know when Sam is brewing a fever as his "normal" body core temp hovers around 37.4ºC (98.6ºF) but on Tuesday afternoon his temp had started hitting the 38's and by Tuesday evening was resting on a worrying 39.7ºC (103.4ºF). After a trip to the doc we found out that he has tonsilities and an upper respiratory tract infection, so our GP prescribed some antibiotics (Augmentyn ES-600). I gave Sam his first dose on  Tuesday evening and, with the help of some pain meds for his sore throat, he slept slightly restlessly but nothing more than usual. However by Wednesday morning things took a turn for the worst - Sam's temp stayed in the high 39's, even with the medication, and he also started vomitting up EVERYTHING I gave him whether it was milk or food or medicine, without fail everything passed his lips twice...once going in, once coming out, and then also developed a bad case of diarrohea. I have always thought that Sam's throwing up had reached the "ultimate" level of potential - I was wrong. By Wednesday evening he'd had practically nothing to eat or drink the whole day and just lay on my lap moaning or whimpering. I used a suppository in an attempt to get his temp down but the excessive diarrohea must have made his little behind fairly raw and he screamed in absolute pain for about twenty minutes afterwards, so even suppositories became a useless course of action. We noticed a faint red rash on his neck but as Sam has an extremely reactive skin were not sure if it was as a result of the fever or a mosquito bite or anything really. Eventually after several bouts of vomitting Sam "settled" down for the night. Thursday morning the rash was still there, but not quite as angry. I continued trying to get the antibiotics, prebiotics and pain meds in...and Sam continued with the throwing up and diarrohea. I changed the dosage method of the antibiotic as I know Augmentyn is known for wreaking havoc on little kiddies' systems, so split the daily dose into three portions instead of the originally prescribed two. Thankfully, after a near-visit to the ER on Thursday evening at 12:30am when Sam woke up screaming in pain which was then followed by more throwing up and more runs, Chris rushed off to our 24hr pharmacy who gave him some Cera-Lyte (a rice based replacement drink) which he drank without much fuss - I am certain that without the Cera-Lyte he would have landed up being admitted due to dehydration. I was desperate not to have Sam end up in hospital as it is Meg's birthday on Sunday and in lieu of celebration, she'd invited two of her "BFF's" (as she calls them) home from school on Friday afternoon, where the three of them were going to have a mini-party. Luckily Chris managed to get a day's leave to help me with Sam which also meant that Meg did not have to cancel her playdate.

Sam trying to charm his way into bunking with Meghan. Anything to avoid his own bedtime.

Friday morning started out with more bad news as, after just dropping Meghan off from school, I received a phone call from the neighbourhood police station of the college Luke attends, telling me that Luke had been robbed, allegedly at gunpoint, on his way to school. We rushed off to Luke's college, me dressed in whatever dregs of clothes I had left in my cupboard, which had not yet been vomit or poo soiled (Gross, I know, but our reality - I simply cannot keep up with the washing of the three/four outfits Sam and I each go through every single day, not to mention the number of towels we use each time in our feeble attempt to save what's left of our carpets). Having Chris with was an absolute blessing as I could "hide out" in the car while he went in to fetch Luke, who was badly shaken and very emotional, but luckily unharmed otherwise. Aside from the obvious trauma of the actual incident, along with it comes a problem I thought we had solved - a way of getting Luke to college in the morning. He is understandably too scared now to go by train. Anyway, I prepared myself for another day like the previous three which also included one vomit incident in the car while waiting for Meg on Tuesday and (horror of horrors) one diarrohea incident while waiting at the school on Thursday, both of which left me covered from neck to knee's in the respective offending fluid. To my surprise, Friday went by pretty uneventfully and by 6:30pm we'd been vomit/poo free! Sam was in his element with all the girls, he certainly does love female attention.

Kaylee, Meg & Jenna

Kaylee, Sam & Meg

Just when I started thinking "Phew! Finally things seem to be getting better." I was again proven wrong. I gave Sam his meds followed by a bottle, but the second he saw the bottle he started gagging - long before the bottle was anywhere near his mouth. And of course he threw up all the meds. Waited a bit, tried again...up came everything. And so it carried on until Sam was vomiting up bile as his stomach was so empty and he eventually cried himself to sleep. He just does not want to eat or drink anything and somehow intantly brings on gagging when he knows I am going to try and put something in his mouth. Even just putting him in his feeding chair causes taboo...

This morning Sam's rash was much worse so off we went to the doc again (after having to cancel a much needed hair appointment for myself). She has little doubt that Samuel is allergic to penicillen and the penicillen "family". He has previously had a reaction to Orelox as well (which is a cephalosporin) and a cross-reaction between that and the amoxicillen in Augmentyn usually indicates an allergy. So now, on top of everything else, behold "Spotty Smurf"...

The one good thing about the Augmentyn being such a potent antibiotic is that Sam's tonsillitis and URT has cleared up, so Dr dB advised us to stop the antibiotic straight away, to treat Sam with some Aterax for the rash and to continue doing what we can with regards to his feeding/drinking as she is satisfied that he is not dehydrated. Again, today seemed to go much better...but alas, come 6pm we had the same performance as last night...three bouts of throwing up and Sam eventually crying himself to sleep. It's like life keeps taunting us with the longed for promise of relief and improvement...and then, just as we start relaxing and breathing that huge sigh of relief.....WHAMMY! We're thrown back down.

I read an email on the RTS listserv a few days ago from one of our RTS mom's and in it she wrote "some days I just hate the word RTS" - couldn't have said it better myself!!


  1. Time brings relief friend.....It is so hard to wait.....

  2. Oh Nicky. What a week. So much to persevere through!!!! Poor Luke as well - v traumatic. And little SMURF- give him a hug from us. Strength to you!

  3. Ouch poor Sam am still the brother sister love between him and Meg it is precious. Thinking about Luke every day that he has to venture into this scary place. Shame hope meg enjoyed her birthday after all you have had to endure last week. Love and hugs