The Paediatrician's Code

Maria, hands-on

Until the age of two then Maria was a quite normal child; some of the stages were slightly delayed but nothing very unusual. It wasn't until she reached two years that we started to worry about her poor verbalisation (even though she was vocalising (babbling) a lot and clearly felt she was communicating with us. At two years and four months, Maria could say only three words ("car", "dada", "dog") at which point the paediatricians got worried. At this point I was looking for reasons for Maria's slow progress and wondered if she might be autistic; the paediatrician said she was much too sociable to fit into that category. So, the search for the cause of Maria's speech delay began.

Maria was about three years old when we went to see her paediatrician for another assessment. After a battery of tests the doctor concluded that Maria's delay wasn't confined to just speech but was "global". She didn't explain the implications of her change in terminology but I later inferred that "global delay" was a synonym for mental retardation in the medical literature. 

The paediatrician recommended Maria be examined by a geneticist. I nodded in agreement, keen to find a cause for Maria's speech delay. Once again, I thought no more about it. However, Joan noticed the body language of the doctor and realised she wasn't telling us the whole truth.

Then, about a week later, Joan returned from work (she was a nurse at the same hospital) and told me she'd bumped into that same paediatrician in the corridor and asked her what she really thought. The doctor told her she suspected that Maria might have a genetic condition called "Rubinstein-Taybi Syndrome" and pointed-out Maria's large thumbs.

That evening Joan came home from work armed with print-outs and told me all about her conversation with the doctor and about Rubinstein-Taybi Syndrome. I said "Rubinstein what?". The only Rubinstein I knew was Anton Rubinstein the pianist. 

I read her print-outs incredulously and Googled an article on Wikipedia. Could these lists of symptoms possibly relate to our beautiful daughter? I looked at the photos and then thought of Maria. No way!

I rejected the doctor's diagnosis, particularly the interpretation of Maria's thumbs, reminding Joan of her joke about my large thumbs; but the articles I'd just read were too disturbing to ignore and I knew I'd have to do more research.