My ever channging diagnosis part 2

have swung in and out of having a sz/sz-a diagnosis over the space of 45 years. Different pdocs can look at the notes and interpret them differently. Personal bias/subjectivity comes into play… That does little to quell understandable cynicism/doubt over the diagnostic process.

At the moment based purely on so called 'positive symptoms and my inability to process and respond fully to the query about moods in a time pressured situation the dx is episodic schizophrenia. It’s not easy rolling the memory clock back over 11 years to a how things were pre regular medication. The answer when given time to properly respond can be very different to a time pressurised one. Indeed genetically I’m someone who performs less well under pressure/stress.

When a pdoc includes the following to justify a change of dx that sends intellectual alarm bells ringing: “In the context of an autism spectrum disorder having been made…”.

Met/Met homozygotes appear sensitive to stressful events in childhood and adolescence, leading to environmental programming of the stress axis.

rs4680(A) = Worrier. Met, more exploratory, lower COMT enzymatic activity, therefore higher dopamine levels; lower pain threshold, enhanced vulnerability to stress, yet also more efficient at processing information under most conditions

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With most pdocs its mostly a hit and miss attempt. I speak after being on medications for the past 27 years.

Have you checked the dbSNP?

db SNP??? this? I’m not sure what to look for.

Your variant is classified as drug response.
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more info…
There are 70+ research papers on this SNP, ranging from cancer to dopamine regulation.
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I just know from a psychiatric perspective it makes a lot of sense. I’ve briefly looked at other effects of the variant. I don’t do well when stressed i.e definite dip in cognitive functioning occurs , and without the depot mental health dips quite noticeably

Your variant does not have a likely pathogenic/pathogenic variant rating. So I think this might be just a “drug response” to stress and external stimuli. It apparently responds to opioids and tramadol too. I can’t explain much because I’m not a geneticist. It’s probably best to ask this to a qualified geneticist.

Have you had a whole genome sequencing?

I’ve considered it, but the barrier currently is cost.

Psychiatry still have much work to do, it is like other medical specialties 200 years ago.

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