Damn, the head in the sand strategy can't work forever...Was going along fairly well in the shadowy realm of non-diagnosis.
Maybe autism, maybe rett. Then one casual expert visitor drops the bombshell... 'You know you'll have to keep an eye on her for pneumonia.' Because of swallowing difficulties, rett girls often inhale what they're meant to drink.
It shouldn't feel like a bombshell because I've suspected it all along, from day one. (Damn google, it's so easy to diagnose, especially when the doctor says 'dunno, look it up'.) But so far the therapists have shrugged and said, 'All kids with autism are different.' Autism is her official diagnosis. Many times we raised rett syndrome with her paediatrician, but he didn't think it was likely.
Rett has a more troubling prognosis and it seems fairly common for rett kids to die of pneumonia or cardiac arrest in their teens.
The 'scientific' difference is that rett is seen as provably genetic (with autism they're still hunting for genes). But genetic tests don't pick up all rett cases, and just recently a second genetic mutation has been found, which implies that it's not a simple one-to-one relationship. Differences in syndrome severity are explained by which X chromosome controls neurons (one X chromosome being rett-affected) rather than by environmental contributions.
Researchers seem to work backwards from a belief in genetic causes to locate the genes 'responsible'. In the case of rett syndrome they have manufactured a similar (or, as they believe, identical) illness in rodents by mutating a particular gene. I can't help wondering what they used as a mutagen.
There may well be genetic predispositions and causes for various syndromes; I'm not arguing against that. However it may also be true that under conditions of non-exposure to particular agents the genetic mutations involved may never actually cause disease. Under the genetic model, we'll never know for sure.
Our girl underwent a massive improvement within 2 days of chelation. That's all I know.
Something causes autism.