Did I ever mention that I was a worrier? My natural disposition is to worry. If there was nothing to worry about, I'd worry.
I have been worrying out loud on this blog for a while. One persistent theme is the 'is he or isn't he?' question in relation to a diagnosis of an autism spectrum disorder for Tokoroth. My worry has always been 'what if he's not?' and that's not because I want him to be autistic but because if his symptoms are not related to ASD then what can I attribute his developmental delay to?
Rewind.
Today was not D for Diagnosis Day. I had to actually get to the Child Development Clinic appointment to find out what we were there for (despite asking several times).
Today was an assessment by a pediatrician who, with the help of an assistant and observed by a student, led Tokoroth through a multitude of tasks to test his abilities against standard measures for motor development, speech, social interaction and general developmental milestones.
Tokoroth was very quiet, very cooperative and very engaged. He smiled, listened, and, mostly, did what he was asked. Mostly!
I couldn't say for sure but I suspect this may have been the Autism Diagnostic Observation Schedule (ADOS). I didn't ask because I was determined to bite my tongue and act like I knew nothing (see previous post) so as not to annoy the clever, real doctor person.
As it happened I shouldn't have worried. The pediatrician was straight out of the school of Simon Baron-Cohen and when my knowledge leaked out (curse you, loose tongue) she was really interested to know what I knew and how I knew it. We chatted about ICD v DSM and I explained he wasn't normally mute and displayed delayed echolalia and she was entirely comfortable with me doing this. She was particularly interested in my self-observation of Broader Autism Phenotype. In fact it seemed helpful. It also meant I could ask the questions that have been burning away inside me that no one else could answer.
Result.
The pediatrician ticked some boxes, wrote some notes and did some adding up. Then she scratched her head. She explained that the next step was what I refer to as D-Day. This would be the full multi-disciplinary assessment with the SALT, pediatrician (possibly the same one) and other specialists. She asked me what I thought would be the outcome. I said I thought PDD-NOS or whatever the ICD equivalent was but that I wasn't sure because sometimes he just didn't seem to fit in that box either.
Hmmmm.
She scratched her head a bit more. She told me that she wasn't sure he'd warrant a diagnosis of a spectrum disorder. Wasn't sure. Maybe. Maybe not. Maybe. Maybe not. She was doing the same Homer Simpson dance I was doing a few posts back. She said that because it was such a fine call that she would suggest that the assessment was carried out, not by her, but by one of the consultant pediatricians with more experience with which to make a call.
Bombshell.
Then she asked the question, that one I was asking at the beginning of this post. What if he's not autistic? What is the cause of his autism-like symptoms? She looked at me and mentioned that it might be an idea to get some blood tests taken and test for chromosome abnormality. She asked me if I knew why she was suggesting that.
Fragile X.
I had discounted this (based on physical observation alone) but still feared it. I fear it maybe because I don't know it (compared to what I know about ASDs) but also because it means that maybe I was not passing on autism genes but that his mum was passing on the Fragile X gene.
The reason that Fragile X being the cause and the impairment being a product of that worries me is because it has wider implications. Little M, bother of Tokoroth, is a little genius. I had figured that he was lucky to escape my pesky genes and would be free of the challenge of living with autistic traits. If Tokoroth has the Fragile X gene and that is the cause of his intellectual disability then it likely that Little M could be a carrier even if he is not symptomatic. Or not symptomatic yet.
Either way we could be faced with having to explain to both of them that they have, might have in the future, or that their children might inherit, a chromosone abnormality that can result in a spectrum of characteristic physical, intellectual, emotional and behavioral deficits.
Maybe.
Of course Tokoroth might just be autistic. Or just lazy. Or something. Did I ever mention that I was a worrier?
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I know some lovely, happy kids with fragile X, though they don't look much like Tokoroth, it's true. Still, blood work is a good idea. There are even some rare vitamin deficiencies (not linked to diet) that can play a role.
ReplyDeleteOne thing that I can attest to is that professionals rarely agree. Once there is a label in place, they will all generally concur, but even then each person will break it down differently. I've heard our guy's short term memory described as off the charts high and exceptionally low. I've heard him described as a concrete thinker and an abstract thinker, and so on and so forth. No matter how much training you have, it's hard to figure out another human being in a few hours.
An interesting observation that comes of comparing notes with other parents is that most professionals have preferred opinions that they tend to apply to most of the kids that they see. One person gives out PDD-NOS diagnoses, another gives out Asperger's. One person sees anger issues, another sees ADHD. In some ways, the professionals are easier to classify than the kids.
Wow, this is really interesting. The doctors are unsure, you're unsure. Wow. Is all that uncertainty driving you nuts with worry? It would me. I guess I have to say we're lucky that everyone is so very sure of our son's dx.
ReplyDeleteBut I'm a worrier, too. And I've thought about Fragile X. But don't know anything about it.
There, wasn't I just totally unhelpful!