USA: National Institutes of Health (NIH) intramural ME/CFS study

[wastwater]

This is interesting as I found I have a rare genetic disorder Axenfeld rieger syndrome but then found many with ARS seem to have FM ME
Following FOXC1 I can reach a lot of what ME is supposed to be
Eg you want heat shock 70 proteins I got that
B and t yes and lots of other angles now just following that one gene FOXC1

Maybe they got rid of all there best clues

 

[wigglethemouse]

A wastebasket it may be but we still need studies to better understand what is being misdiagnosed and what's wrong with those where no known disease can be identified.

Didn't Ron Davis talk about how he could get no funding for the Severely ill project as NIH does not fund that kind of investigation? Does anyone now if the NHS in the UK is set up to do a deep dive on a disease group to gather more information about said disease?

One thing that may help move your thought forward is the Clinician Coalition of ME/CFS practitioners that Dr. Lucinda Bateman is coordinating in the US. If they can start uncovering the autoimmune and rare disease patients that meet strict ME criteria and share that information by writing case studies it could possibly move the field forward by identifying new subsets that can then be leveraged. That would not cost that much money, mainly the doctors time.

 

[Hoopoe]

The requirements to enter the study:

Those with ME/CFS that started after an episode of infection who have severe symptoms based lasting between 6 months to 5 years, based on the study evaluation

The first step is a pre-screening process, and then a 5-10 day initial phenotyping inpatient visit. I understand that it's at this stage where the previously missed diseases were recognized.

 

[Ravn]

These two sections caught my eye.

Same here.
If Cort reported correctly then these patients who were found to have other conditions had been carefully prescreened by ME experts and met CCC including PEM (Cort said this in the comments). This raises some questions:

• Were they misdiagnosed and never had ME (despite meeting CCC & PEM)? This would mean PEM is not unique to ME after all, and CCC is not that good at identifying ME.
• Did they have both ME and another condition, as two separate issues?
• Did their other condition cause their ME? This could fit with the idea of subgroups such as, for example, an autoimmune subgroup.
• Did their ME cause them to develop another condition?

 

[Hoopoe]

If true this seems to align with the view that the diagnostic criteria are fairly bad.

 

[Trish]

Those with rare conditions may have had ME as well, I guess, but were excluded from the study so their rare condition would not confuse the data.

 

[wastwater]

I think it may of been that some with a rare condition had within it inherited a tendency towards developing ME and if so that will narrow things down and the pathways be easier to see
And there maybe many but I wonder if they come to a similar important spot

 

[Milo]

It goes on to say that diagnosing ME means that the patient enters a black hole where all the symptoms experienced by patients are blamed to ME and therfore undeserving of further investigation into other pathologies. It’s as if diagnosis of ME disabled physicians into looking for more.

 

[Forbin]

High Percentage of Rare Diseases
It’s a small sample set but it’s remarkable how many people participating in the first week were diagnosed with a rare disease. In something of a testament to the thoroughness of the study, almost [a] third of week one participants (6/19) were found to have a rare disorder which the researchers believed was probably causing their symptoms and dismissed from the study. One appeared to have Parkinson’s Disease, another a neurological disease and I’m unsure of the others.

Wait... that can't be right. We have it on the highest authority that...

However, the simple combination of history, examination and basic tests will establish those who require further investigation. In the majority this simple screen will be normal, and over investigation should be avoided. Not only is it a waste of resources, it may not be in the patients' interest, and may reinforce maladaptive behaviour in a variety of ways.
https://jnnp.bmj.com/content/jnnp/54/8/669.full.pdf

 

[Aroa]

I wouldn´t exclude the possibility that PEM is unique to ME.

I presume that current studies may also have a significant percentage of non Me patients. It is difficult to have the right answers if you are mixing patients with several conditions.

Anyway I look forward to watching Dr. Nath´s talk.

Hopefully this NIH meeting will give us finally some answers !!!

 

[Inara]

This would mean PEM is not unique to ME after all

PEM is not unique to ME.

 

[Wonko]

I wouldn´t exclude the possibility that PEM is unique to ME.

Various discussions have been had on PEM on here.

Practically everyone here knows what it is, or at least has significant commonalities with the majority in their experience of it.

The problem is a definition was never agreed on, there seemed to be too many things which might be part of it, with no one being quite sure if people were talking about the same experience of a specific aspect, i.e. if it was just a language problem or if people were talking about different things.

Enough of that occured so that no real progress was made in coming up with an operational definition.

It seems PEM is a very wooly thing.

Or that's my interpretation of my recollection of the odd times I dipped into the threads.

It's also unlikely to be ME specific, from memory of posts even over the last week it appears a few other conditions have something that would fit well within the wooly PEM pwME experience.

 

[Forbin]

Quite a few people with autoimmune disorders have shown up during the filtering out process. Nath suggested that could be an interesting cohort to study on its own. He’s also found quite a bit of head injury and loss of consciousness – which makes MRI and brain scans difficult to assess – and people with seizures and strokes. Interestingly, bnly one person had had a diagnosis of major depression….

I do wonder about the exclusion of all autoimmune disorders, though. I believe Dr. Hanson and others have found similarities in the makeup of the mircobiome between some ME/CFS patients and patients with Crohn's disease and chronic ulcerative colitis, both of which are believed to be autoimmune in nature. It could be that autoimmunity in the gut can either be a consequence or a component of the mechanism of ME.

 

[wingate]

I would be curious to know more about the rare diseases these patients were determined to have.

I wonder what kinds of things they looked for aside from the common things that may be ruled out before an ME/CFS diagnosis is made at the doctor's office (and not just in a clinical study).

 

[WillowJ]

I wonder how more of us could get access to a specialist diagnostician. If that many of us have other diagnoses, we should have some way to be getting diagnosed. It might reduce morbidity.

 

[Alvin]

Not surprised in the least by these numbers. This is by far the most harmful consequence of the dogma of psychosocial MUS, it discourages investigation and amplifies the problem of misdiagnosis. It hurts people with ME. It hurts people with other misdiagnosed conditions who get caught in the wastebasket. It hurts people who could benefit from psychotherapy by clogging their services. It demoralizes people providing those services because they are given an impossible task. It hurts nearly everyone while providing no measurable benefits.

It benefits those who believe their own lies and hubris

 

[DokaGirl]

Interesting, and also perplexing that after screening with the CCC, some who enterd the study have other diseases. More diseases misdiagnosed as ME, or do they have ME plus....?

I'm with @WillowJ. Where can I see a specialist who could test me as has been done at the NIH? Or at least some of it.

My symptoms fit the CCC, and the ME-ICC, but I still have often wondered, what if something has been missed that's more readily treatable?

Sounds like the NIH study will have some interesting and surprising things to tell us.

 

[Sid]

He mentions one patient having Parkinson's. Its symptoms and presentation are completely different. Don't see why that would preclude someone from having ME or how it could account for ME symptoms. He also mentions head injuries with LOC and strokes. Again, the head injury could just be the precipitating event that triggered ME. People with stroke don't have our symptoms. So what if that one person had major depression? Why can't a person with ME or any other condition develop depression? Having one illness doesn't immunise you from getting others. I am very skeptical about this research project and any project led by randomly assembled grifters working for govt $ who don't have a background in this. Perhaps there is something useful to be gleaned from whittling down the cohort to those who have no other comorbidities. But then again out here in the real world comorbidities are the rule not the exception.

 

[Sid]

Interesting, and also perplexing that after screening with the CCC, some who enterd the study have other diseases. More diseases misdiagnosed as ME, or do they have ME plus....?

I'm with @WillowJ. Where can I see a specialist who could test me as has been done at the NIH? Or at least some of it.

My symptoms fit the CCC, and the ME-ICC, but I still have often wondered, what if something has been missed that's more readily treatable?

Sounds like the NIH study will have some interesting and surprising things to tell us.

I bet almost none of us have had such million dollar work-ups. Where would a regular doctor even know to begin to look? I suspect "rare diseases" are "rarely diagnosed" because there are so many diseases with so few cases or no cases that any individual MD has seen that they don't even appear on the radar. Just look how many rare and unusual things have popped up on patient forums over the years. Some people are lucky to get off the wastebasket island. I made my peace years ago with the fact that I will have to forever live with uncertainty due to the extreme incompetence and underfunding of the healthcare system where I live.

 

[Milo]

He mentions one patient having Parkinson's. Its symptoms and presentation are completely different. Don't see why that would preclude someone from having ME or how it could account for ME symptoms. He also mentions head injuries with LOC and strokes. Again, the head injury could just be the precipitating event that triggered ME. People with stroke don't have our symptoms. So what if that one person had major depression? Why can't a person with ME or any other condition develop depression? Having one illness doesn't immunise you from getting others. I am very skeptical about this research project and any project led by randomly assembled grifters working for govt $ who don't have a background in this. Perhaps there is something useful to be gleaned from whittling down the cohort to those who have no other comorbidities. But then again out here in the real world comorbidities are the rule not the exception.

Hi Sid, I agree with most of what you say except I do not share your skepticism. I think it is important for all patients to be appropriately assessed and investigated.

If you follow the forums, every now and then you will have people who share their daily symptoms or their most worrisome symptoms. Shaking and fine motor skills is not typically ME. I question whether seizures is part of ME. I am not doctor but I do not think so. Someone mentioned one sided numbness, which is not typical of ME.

We are gathered here because we have received a ME diagnosis or because we suspect we have the disease. Many have received very very poor care, and many have given up seeing doctors because of the trauma and hostility they have encountered in health care. This diagnosis relies on symptomatology and disease presentation. This is a problem. We are in desperate need of biomarkers and diagnostics tests.

Lastly because we do not belong to a medical specialty, unless you have access to the very few experts who see patients with ME all day long, chances are the doctor does not know much about ME and simply looks at ‘Up to Date’ and Cochrane guidelines.