Rubenstein Taybi Syndrome (RTS) is the label doctors have given to our child; a disorder neither my wife nor I have ever come across and why would we? No-one we know has had this genetic abnormality and blood tests showed neither of us are carriers. After being given this diagnosis my sole purpose in life was to understand as much as possible about this condition.
The syndrome is named after 2 doctors – Jack Herbert Rubinstein and Hooshang Tabi who were investigating a number of children with similar distinctive features. These included learning difficulties, short stature, broad thumbs and toes. Initially this was called “Broad Thumb Syndrome”, however after further research it was named after the two doctors who identified it.
RTS is estimated to affect 1 in 125,000 babies. There is no preference in race or gender, although as it is becoming easier to identify more and more people are known. In terms of the genes. Aara has a deletion of CREBPP gene which is essential for normal development and is the cause of her developmental delays. On a side note, RTS can also be diagnosed with the deletion/mutation of the EP300 gene, although those cases tend to be less severe……but after the hours and hours of reading up on this, the one sentence that negates all the problems we may have was “Every child is different and not all these symptoms will be prevalent in every child”. I must have read this sentence a hundred times but only at the time of writing this post can I say I understand it.
This “RTS label” should not define Aara, the upbringing my wife and I are able to provide will define my child! As the books say, “Every child is different” regardless of whether or not they have been given a label (whatever it may be) be it RTS, Downs Syndrome or if they are perceived to be “normal”……Yes the road ahead may be long, hard and tough but can you really achieve success without struggling first? What I do know is every day I want to see my little girl laugh, be happy and work towards her goals. I know my dad cannot wait for the day Aara joins him marshalling the local park run where he volunteers and I cannot wait for the day Aara joins me to support the Mighty Spurs. But as a friend said to me, ‘with any child you can’t project your dreams on to them, you need to let them make their own dreams’…although if Aara is dreaming of supporting any team other than Spurs it is simply not an option!
The main documentation the hospital provided us with was a 64 page PDF detailing RTS with specific case studies of children. This was created by the UK RTS support group this was the first organisation we reached out to, the team was very welcoming in the early email exchanges that we had with them and advised us to attend their annual conference held in Birmingham on 11 June 2018. This was a huge eye-opening experience for us, we met a number of families with children going through a variety of difficulties. The day was filled with presentations from doctors and specialists with detailed discussions about genes, new advancements in genetics and help with EHCP (Eduction and Health Care Plans). If I am totally honest the presentations kind of went over my head and I spent the day looking at the children and how this syndrome affects their ability to perform everyday tasks. The major thing that stood out for us was how happy the children were, but also the majority of children had a difficulty with speech. My wife and I managed to meet a number of families and to discuss what struggles they face and drew comparisons with Aara’s situation. I remember driving home discussing the event with Zohra and her breaking down at the realisation that Aara may not walk or talk and the complete unknown of what the future may hold.
I just felt so helpless and any words of comfort I was trying to give just fell on deaf ears. But as we have read and been told numerous times “every child is different” and at least we are in this together as a family and we are going to have to work with Aara to make sure she can be as independent as possible. I mean, how can this little one not put a smile on your face no matter what label the doctors give her.