Independent: Father attempted suicide and family almost lost home after GP missed common genetic condition for six years

Andy

Andy

Senior Member (Voting rights)
A father who was on the verge of losing his home and contemplating suicide after doctors misdiagnosed him with ME while overlooking a treatable genetic condition for six years, says the NHS has treated him with “contempt”.

Peter King, 60, from Essex, found out in late 2018 he had haemochromatosis, often known as iron overload, a heritable disorder affecting as many as one in 200 people in the UK.


It causes iron to build up to toxic levels in the blood, potentially damaging the liver and joints, and can lead to cancers and liver disease.

Fatigue is one of the earliest signs, but when the black cab driver saw his GP in 2012 after he began falling asleep at the the wheel, he was sent away with a diagnosis of myalgic encephalomyelitis – chronic fatigue syndrome (ME/CFS).
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https://www.independent.co.uk/news/...er-genetic-condition-peter-king-a8814946.html
 
One of the many ways this entire ideology is morally and intellectually bankrupt. It's harming completely unrelated people.

And, ugh, "falling asleep". That's what you get when you redefine an entire disease around a vague term that can be used in many different ways.

How many more of those are there? How many deaths? Lives ruined? Ridiculous.

This should really be highlighted in the NICE committee proceedings. To create collateral damage is definitely not something clinical guidelines should accept.
 
It appears more may be overlooked in medical training than appropriate education about ME.

This poor fellow was punted into the ignore bin. Appalling that iron test results even flagged this problem as a potential, and nothing was done.

As @duncan said on another thread, we have to be our own advocates. Even then, we miss stuff ourselves.

Health professionals deride the public for turning to "Dr. Google", but really what do we have when we have physicians like this?

How frustrating for the haemochromatosis society to know there are citizens misdiagnosed who actually have this disease. A disease that causes damage. Good they are finally able to work with NICE and the RC on this.

I don't know what the outcome of complaints is in the UK. What I've seen is that patient complaints are ignored. It's only when other practitioners get involved that something may be done.
 
It appears there may be many, many GPs in urgent need of retraining.

Most of these should probably be retrained to fill positions where human interaction is not required, as this appears not to be a skill some possess.

People hate stepping in dog products, they also appear to resent having to carry bags, or being hassled by council employees and made to pay a fine.

Surely even a GP could be trained to follow dogs, scoop as needed, and then bag and dispose of said dog products?

A valuable public service worthy of their skills and ability.

In my life I've been registered and seen about a dozen GP's. I've only ever met one that I, as a patient, would consider to be any good at their job.
 
shak8 said:
Still, a dimwit of a clinician, what a lack of caring.
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Especially given ...
To make matters worse, routine blood tests at the time showed elevated levels of iron in his blood, and the laboratory notes sent back to his GP at Deal Tree Health Centre recommended testing to rule out haemochromatosis if they remained elevated – but this did not happen.
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I posted this link from ME Research UK on an earlier thread; misdiagnosis involving ME:

http://www.meresearch.org.uk/information/publications/misdiagnosis-on-a-grand-scale/

Two scientific papers noted in this link regarding misattribution of ME to 40% of patients in study #1, and 54% of patients in study #2.

ME Research UK also receives direct contact from about 400 people/year who first diagnosed with ME, have been re-diagnosed with other diseases such as: "Addison's, MS, sleep apnoea, primary mitochondrial disease, primary liver disease, and paranoid schizophrenia."

One can assume these people do not receive treatment until re-diagnosed.

ME Research UK calls ME "a convenient lay-by for clinically complex cases that don't fit into any category."

We can add haemochromatosis to this list.
 
I’m not sure if it’s too rare to be relevant but maybe they could add leukodystrophy/leukoencephalopathy as it’s also sometimes an MS mimick too
They show up on mri but I wonder if there are any that don’t
 
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It is a rare genetic disorder of abnormal lymphocyte survival caused by defective Fasmediated apoptosis.<a href="https://en.wikipedia.org/wiki/Autoimmune_lymphoproliferative_syndrome#cite_note-pmid16522544-3"><span>[</span>3<span>]</span></a> Normally, after infectious insult, the immune system down-regulates by increasing Fas expression on activated B and T lymphocytes and Fas-ligand on activated T lymphocytes. Fas and Fas-ligand interact to trigger the caspase cascade, leading to cell apoptosis. Patients with ALPS have a defect in this apoptotic pathway, leading to chronic non-malignant lymphoproliferation, autoimmune disease, and secondary cancers.
 
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DokaGirl said:
I posted this link from ME Research UK on an earlier thread; misdiagnosis involving ME:

http://www.meresearch.org.uk/information/publications/misdiagnosis-on-a-grand-scale/

Two scientific papers noted in this link regarding misattribution of ME to 40% of patients in study #1, and 54% of patients in study #2.

ME Research UK also receives direct contact from about 400 people/year who first diagnosed with ME, have been re-diagnosed with other diseases such as: "Addison's, MS, sleep apnoea, primary mitochondrial disease, primary liver disease, and paranoid schizophrenia."

One can assume these people do not receive treatment until re-diagnosed.

ME Research UK calls ME "a convenient lay-by for clinically complex cases that don't fit into any category."

We can add haemochromatosis to this list.
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The link doesn’t work.
Is this the White study that I’m in where he said I was wrongly diagnosed with ME except he was wrong, I do have ME. That study seemed to be Peter White blowing his own trumpet and telling 40% of referrals to his clinic that they didn’t have ME they were depressed or had Fibromyalgia.
 
Yup, that’s me.
Peter White Pooh-poohing GP’s diagnosing ME and giving people an alternative diagnosis of depression, fibromyalgia etc should not, in my opinion, be cited as evidence of anything other than Peter White’s incompetence.
Obviously in my case he was wrong, how many others?
My GP begged me not to be referred and I didn’t listen and insisted on going to Bart’s. Now I know why.
 
On the flip side, many doctors are reluctant to give out ME/CFS diagnosis because of they are afraid of misdiagnosis. At least that seems to be the case in this side of the pond. Doctors inconspicuously scribbled "chronic fatigue" rather than "chronic fatigue syndrome" on my chart for a long while.

Both type 1 and type 2 misdiagnosis could be minimized if doctors pay careful attention to PEM. (Neither hemochromatosis nor chronic fatigue involve PEM.) Hopefully these errors will become less common as the modern definition of ME/CFS gets adopted in the diagnosis process more widely.
 
shak8 said:
If he had been a woman of child-bearing age, perhaps the doc would have run the full iron-ferritin tests and made the diagnosis.
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Going by the experience of a friend who has had a delayed diagnosis of haemochromatosis - as a woman of childbearing age, you get fobbed off with "of course you're tired, everyone's tired these days [eyeroll]", "have you tried yoga" and "do you want antidepressants?"
 
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