Comment by srvmshr | Hacker News Reader

Comment by srvmshr | Hacker News Reader

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> Are you really sure the doctors are doing a better job when they go through the motions of incorporating a wide range of data? Or do we just convince ourselves they're better?

Personal story: I was diagnosed with a rare genetic disease in 2019. If I ran the symptoms through a ML gauntlet, I would be sure they would cancel each other out or make little sense. Chest CT (clean), fever (high), TB test (negative), latent TB marker (positive), vision difficulty (Nothing unusual yet), edema in eye socket (yes), WBC count (normal), tumors (none), hormones (normal) & retina images (severely abnormal)

My condition was zeroed in within 5 minutes of a visitation to a top retina specialist, after regular opthalmologists were in a fix about two conflicting conditions. This was differential diagnosis based even though genetic assay hadn't returned yet, which also later came in favor. I cannot overemphasize enough how good human brain is in recalling information & connecting the sparse dots to logical conclusions

(I am one of 0.003% unlucky ones among all opthalmological cases & the only active patient with that affliction in one of the busiest hospitals in the country. My data is part of the 36 people in a NIH study & opthalmo residents are routinely called in to see me as case study when I go for follow up quarterly).

How many specialists did you go to before it was identified?

How many other people with the condition were misidentified?

I only say this because of a family member with a rare genetic condition. For years they were told it was something else, or told 'it was in their head'. The family member started a journal of their medical conditions and experiences that was detailed then brought that to their PC which whom then sent them to a specialist, this specialist wasn't sure and sent them to another specialist that had a 3 month wait. After 5+ years of living with increasing severity of the condition it was identified.

So, just saying, it's as much likely that the condition was identified because you kept a detailed list (on paper or in your mind) of the aliments and presented them in a manner that helped with the final diagnosis.

> How many specialists did you go to before it was identified?

2 opthalmo, 1 internal medicine, 1 retina super-specialist & finally someone from USC Davey

> How many other people with the condition were misidentified?

Historical data: I don't know. It is fairly divided between two types, one being zoonotic & other to IL2 gene. I am told this distinction of pathways was identified in 2007.

> [..] you kept a detailed list (on paper or in your mind) of the aliments and presented them in a manner that helped with the final diagnosis.

I might have been a better informed patient but I went with a complaint of pink eye, flu & mild light sensitivity. Never imagined that visit would change my life forever. Thank you though, for expressing your concern & support

This escalation is going through a range of increasingly more specialized experts is a critical part if a difgicult diagnosis. The process endures different unique perspectives.

That all sounds shitty but I don't see how that's valuable information. They did eventually solve the problem and there's no comparison to some ML success story.

Human minds can be really good at diagnostics and still fail sometimes when faced with very difficult cases.

In my experience, ML would just classify everything as a very common disease and people would call it a success because it has an 80% effectiveness rate.

The problem that needs to be solved is a case like your example, not diagnosing the common cold.

>They did eventually solve the problem

One of the points taken should be that either via ML or human diagnostic is that these rare problems are either not diagnosed for long periods of time reducing quality of life or diagnosed posthumously.

The reduction of these measures are what we should use when making meat vs machine efficiency correlations.

Maybe I'm reading it wrong but doesn't your story confirm that doctors aren't good at diagnoses? It took the cream of the crop top tier specialist to correctly diagnose your condition.

What is the name of this disease?

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