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/