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???

https://www.ncbi.nlm.nih.gov/snp/?cmd=search this? I’m not sure what to look for.


Your variant is classified as drug response.
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Yep…


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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