Physically, Maria is going to need a lifelong program of continual monitoring for well known symptoms associated with RTS. This list of potential symptoms is quite long.
Now I know from personal experience that when you make lists of things then it can make things look much worse than they really are. If I were to draw up a list of all the ailments I might potentially get from then it'd be pretty long and bleak. Fortunately, in the case of RTS then it's a list of quite well defined symptoms, so all I need to do is to be vigilant in recognising the symptoms when they occur and to take make sure Maria gets regular checkups in all the risk areas.
When examining the list of symptoms, it's helpful to know what percentage of the RTS population actually develop any given symptom. Ideally, this should be compared to the risk associated with a "normal" population. It's also useful to know when the risk is greatest, so you can be better prepared to spot the first signs.
For example, a "talon cusp" is a potential symptom of RTS but it doesn't normally appear until the child's permanent teeth start at the age of six onwards, so don't expect to see one in the early years (as I did).
The two best sources of medical advice on RTS symptoms and their timeline are:
1. the RTS Medical Guidelines by Wiley (2003)
2. the RTS Management Guidelines by Hennekam 2010)
Keep these papers to hand; re-read them from time to time and ask all the doctors who treat your child if they've read both these papers. Maria's orthodontist implied that he knew all about RTS because he'd treated six RTS children over the past twenty years. He wanted to discharge Maria after seeing her at the age of 4 years and 9 months but I argued that this was contrary to the advice given in one of the two papers. It turned out he'd never heard of these papers, so I emailed him the details when I got home.
Knowledge is empowering and if you know more about RTS than your doctors (and you probably will) then you can help protect your child by making them aware of RTS-specific issues. For example, if Maria ever needed to go under a general anaesthetic then I know - thanks to these papers - that I need to warn the anaesthetist that because of Maria's RTS condition, she might have a collapsible windpipe and that special measures may be needed to bring her in and out of consciousness (details are given in one of these papers). Just imagine what could happen if you weren't there to forewarn them.
For example, I'm worried about how we're going to teach Maria to read. Well, there aren't any books on the market that cover reading for RTS children, so instead I've had to look at books like 'Teaching Reading to Children with Down Syndrome' by Patricia Logan Oelwein. You just have to use the best material you can get your hands on. One complication is that Down Syndrome is associated with short-term memory deficit whereas Rubinstein-Taybi Syndrome is associated with long-term memory problems, so I can't be sure the books approach will work for Maria. The Special School that Maria attends think they have a solution through their policy of continual reinforcement, meaning that if they keep reminding children then both long and short-term memory needs are covered.
There's one final thing you should know about RTS. How will you and your partner cope with the news that your child has RTS? In case you think your doctor has the answer then let me tell you that this issue isn't even on their radar. Joan and I weren't offered any kind of counselling to address the issue; we were left to deal with the fallout by ourselves - and you already know from my earlier post what a hash we made of it during that first week. In short, the trauma I felt that week was akin to the bereavement of a close friend. Fortunately I'm pretty level-headed and so the following week I woke out of my zombie state and started work on how to deal with this situation. Notice I said 'I' and not 'we'. Emotionally, Joan lagged behind by several months, unwilling to come to terms with the diagnosis. Even now, after two years, she admits that she still hasn't accepted the diagnosis.
I was frustrated because I needed to talk to someone who knew all about RTS but nobody was available. Professor Raoul Hennekam (the authority on RTS) had left Great Ormond Street Hospital in London and returned to the Netherlands, so there was no expert left to discuss Maria's prognosis. RTS is so rare that you're very lucky to find another case in your vicinity. Joan and I live in London and our Social Services told us there was one other family in the Borough with an RTS child. We had no way of contacting them. Fortunately we followed the advice of our geneticist and joined the national RTS UK group. We felt very much at home with people who knew all about RTS and were prepared to share their deeply felt experiences. Joan and I were a lot happier after that; we no longer felt alone.