SAM...MORE THAN A CONQUEROR: Celebrate Rare Disease Day? Yes please.

Sam. Conqueror. Overcomer.

"IN ALL THINGS WE ARE MORE THAN CONQUERORS THROUGH HIM WHO LOVES US : Samuel was born on 15th May 2009, two months early and in respiratory distress. After an initial Apgar score of 1, he was taken to the NICU and placed on a ventilator, together with an undeterminable amount of tubes, IV’s and monitors which made it almost impossible to see the little Smurfie character lying within…slightly blue and only three apples high. Sam was diagnosed within 24 hours with Rubinstein-Taybi Syndrome, a scarce medical advantage as, due to the rare occurrence of the Syndrome and the limited medical literature on it, many individuals are only diagnosed well into adulthood and some never at all. The page-long list of medical/health issues related to the syndrome, while vital in providing a prognosis and compiling a care plan, took a backseat, however, as Sam’s struggle to breathe and swallow became the primary focus of our concerns and prayers, deepened only by the heartache of not being allowed to hold and comfort him for the first ten days of his already traumatic life. After seven weeks Sam was successfully weaned from the oxygen but was still dependent on a nasal gastric tube for feeding, with which he was eventually discharged. Once home, what should have been a precious time to recover from the stress of the NICU and enjoy a relaxed and cherished time together, instead became a seemingly-endless timeline of specialist appointments, therapies, illnesses and surgeries as that page-long list of medical complexities came into play, affecting every part of Sam…physically, neurologically, medically and emotionally. Yet, despite these challenges and an “ineducable” future being predicted when his prognosis was delivered, Sam showed a delightful potential and eagerness for learning. Unfortunately though, this learning potential seemed limited to his cognitive abilities as, physically, Sam’s development lagged significantly behind that of his RTS peers. A week before his 5th birthday a brain MRI confirmed that, in addition to the RTS, Sam also has Periventricular Leukomalacia and Static Leukoencephalopathy (included under the umbrella diagnosis of Cerebral Palsy), which would more than likely have occurred as a result of the oxygen deprivation experienced leading up to and/or during his birth. Thirteen years later and with a number of surgeries and medical procedures which appear to be in fierce competition for their own “page-long list” (which surgeries and their subsequent recoveries have left Sam to face his day-to-day life with a residue of unshakeable anxieties and phobias), the boy you meet face-to-face…with his cheeky sense of humour, unfathomable joy and fierce warrior spirit…make it almost impossible to believe that that disheartening brain MRI and poor medical prognosis are of the same kid. As we begin to navigate this journey with a newly aged differently-abled teenager, leaving behind the little smurf whose fears and discomforts could so easily be remedied with a cuddle on mom’s lap, the anxiety of more surgeries and medical challenges now compounded by the universal fear of every differently-abled child’s parent/s (who will take care of their child once their own time here is gone) threatens to become overwhelming. But then the excitement of a horseriding lesson, the sheer delight of spotting a balloon (especially a hot air balloon) or a super silly giggle caused by simply hearing someone sneeze provides a beautiful reminder of the profound joy and courage these children radiate, despite their overwhelming challenges, and it provides the perfect encouragement and inspiration for facing your own. #samtheconqueror

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)

Monday, March 9, 2015

Celebrate Rare Disease Day? Yes please.

Oooooohhhh...that word again! And I don't mean the "r" word, which has recently also had its annual "Spread-the-word-to-end-the-word" Awareness Day. Nope, my views on the r-word are so sophisticated and insightful that I dare not share it here. Oh, what the heck. Here it is...

If you use the r-word in an even-remotely derogatory manner - you are a jackass!

Yip, that's about it really. I mean seriously, it's been ages since I've even heard a doctor use the word retard/retarded in a medical context.

I am actually referring to the word "Disease" which accompanies the annual awareness day for rare diseases. To be completely honest, I don't personally view Rubinstein-Taybi Syndrome as a disease or my child, who is effected by RTS, as being sickly. But firstly, many of the conditions related to RTS could well be classified as a disease and secondly, and most importantly, the occasion is not actually focussed on "disease" but rather on "rare". Had I been the one to take the initiative, to do the ground work to make the 28th of February an official awareness day, to spend days...weeks...months prior to the 28th February marketing and sharing the importance of having such an awareness day then sure, I might certainly have called it Rare Condition Day or something similar. But it was not me doing all the effort from behind the scenes, so instead of criticising a mere discrepancy with regards to terminology, I choose instead to ride on the wave of awareness to enlighten others about the syndrome which effects my son.

Just as a bit of useless info though...the definition of disease :

"A disorder of structure or function in a human, animal or plant, especially one that produces specific symptoms or that affects a specific location and is not simply a direct result of physical injury"

To learn more about Rubinstein-Taybi Syndrome, please visit the official Rubinstein-Taybi Syndrome Website

To celebrate Rare Disease Day this year, we joined the Daniel and Friends Fund for a super, fun-filled morning...