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, 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 ♡

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