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)

Tuesday, July 3, 2012

The Inaugural World RTS Day

 Tuesday, 3rd July 2012, sees the very first World RTS Day…an initiative orchestrated by an Australian dad in the hope of not only raising awareness of Rubinstein-Taybi Syndrome (RTS), but also the possibility of bringing more RTS families together across the world.


Rubinstein-Taybi Syndrome was first diagnosed 49 years ago by Drs Jack Rubinstein and Hooshang Taybi and there have been more than 750 recorded cases of RTS since then with an approximate statistic that 1 in every 100 000 - 300 000 babies are born with the syndrome. RTS at a glance is characterised by a specific set of physical features, being broad and/or angulated thumbs and/or first toes, short stature, downward slanting eyes, highly-arched palate, red flat birthmark on forehead, hyperextensible joints, excessive hairiness and, almost always, undescended testes in males. Some of the related medical conditions are feeding difficulties, eye abnormalities, chronic reflux, chronic constipation, heart and kidney anomalies, respiratory problems, seizures, a tethered spinal cord, dislocating kneecaps and/or elbows, vertebral and orthopaedic abnormalities, susceptibility to tumours and developmental/neurological disabilities effecting, amongst others, speech and mobility. As there are no blood tests available in South Africa to confirm RTS, a clinical diagnosis is made based upon these features/conditions.

Our son, Samuel, was born two month’s prematurely on 15th May 2009. Apart from being in severe respiratory distress, Sam had several unrecognised “abnormalities”. Amidst the daunting task of stabilising Sam, our paediatrician immediately sought advice from a genetics professor who, less than twenty-four hours later, diagnosed Sam with Rubinstein-Taybi Syndrome. At the time we never realised how fortunate we were to have had such an early diagnosis as many children born with RTS are often misdiagnosed or not diagnosed at all and having a confirmed diagnosis so soon meant that Sam’s paediatrician could immediately start checking for the conditions related to the syndrome, eg. heart and kidney defects, etc. Unfortunately though, Sam’s medical team had no actual experience with the syndrome, having just heard of it for the first time, so their information regarding RTS was derived purely from the details provided by the genetics professor and medical papers published on RTS which information largely corresponded with what we ourselves sourced off the internet which basically declared that our Samuel would be mentally retarded to the point of being uneducable, would more than likely never speak and achieve milestones like walking and potty-training several years later than his peers, not to mention the related medical conditions mentioned above. We spent the nine weeks that Sam remained in NICU preparing for the worst but hoping for the best while continuing to devour every bit of information we could on RTS. Somewhere along our cyber travels we happened upon a global RTS group who corresponded daily through a listserv, to which we instantly subscribed, and just weeks later were contacted by another RTS family living in Cape Town. The joy of finding someone who could share information and advice with a mere phone call or sms was invaluable and a few weeks after Sam was released from NICU we went along to meet Sam’s RTS sibling, Matt (who was just about to turn 3yrs old), for the first time. You can imagine our delight when we came face-to-face with a precious little boy who could walk, interact and already had an extensive sign language vocabulary.

Of course by this time we’d been spending ample time on the RTS listserv and had been in regular contact with Matt’s parents, Jacqui and Lloyd, so we already knew that while there were certainly many challenges facing children born with RTS, it was not quite the doom-and-gloom outcome one anticipated when sourcing all your information from the internet and medical papers. With RTS development and medical conditions can vary considerably from child-to-child and even though, at 3yrs old, Sam is nowhere near to being able to walk nor communicate verbally, his ability to grasp concepts we thought he might only achieve much later regularly leaves us awestruck. By the age of two Sam not only recognised all numbers from 1 to 10, he could actually select a set of numbers in the correct order and is now well on his way to mastering numbers 11-20, knows a number of shapes already and is a pro iPadder. Sam’s receptive language is brilliant, he understands everything you say and can follow instructions and even though he cannot yet express himself verbally, Sam knows at least 20 hand signs already and tries desperately to communicate them to the best of his ability. Sam is preciously loving and affectionate, has a charming sense of humour and, like all children with RTS, smiles with his whole being…not just his uniquely sculptured little face, capturing your heart at a glance…possibly why they’re endearingly referred to by their extended family as “RTS Sweeties’.

To date, apart from Matt’s family, we have only ever met one other RTS family (also from Cape Town), although are aware of approximately another five or six families in South Africa. It will be an immense celebration and success if, with only this one day dedicated to raising awareness of the syndrome, we are able to welcome just one more family to our little RTS group in South Africa or be instrumental in providing just one newly diagnosed RTS family with the reassurance and comfort that comes with having a doctor who, instead of starting your caregiving relationship with “Well, I haven’t really heard of RTS, but…”, says “Ah yes, Rubinstein-Taybi Syndrome! Well here is our plan of action with regards to what we need to watch out for and, most importantly, what we have to look forward to along this path….!” You can read more about Rubinstein-Taybi Syndrome on the global RTS website http://www.rubinstein-taybi.org/ or the SA website http://rts-southafrica.weebly.com/  and more about the very first Word RTS Day on http://www.worldrtsday.org/







1 comment:

  1. Melissa Meusel turns 30 on the 17th August 2012. You can read about her on the RTS official site. She lives in a communal home, walks to work at the Drostdy Workshop for the disabled every day, comes home Sundays and every second weekend. Speaks extremely well. Is very independent but has all the typical features, obessesive behaviours etc., that go with the syndrome. There is so much love in her, and she has proved all the doom and gloom prophets wrong. We live in Port Elizabeth South Africa, and have never had the opportunity to meet any other RTS parents or children, but have communicated with them.,

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