Do you have ICC-ME and other FAQs

I just wanted to respond to a few comments and questions raised in response to recent posts in this series. If you aren’t a part of the ME community, be forewarned, much of the following will be hard to follow!

The first set of questions all circle the same core question: do you have myalgic encephalomyelitis (ME)?

I have tried my best to be clear about this but for all avoidance of doubt, the answer is: yes, yes I do. How do I know this? a) I meet nearly every criteria for ME or CFS and have since my disease became “full-blown” and chronic in May 2012; b) I have been diagnosed by several expert American MDs, including some who have participated in writing our criteria (Donna Felsenstein, Nancy Klimas, Derek Enlander, Dan Peterson, John Chia, Jose Montoya, David Kaufman**), a process that has included their clinical experience along with extensive testing and cardiopulmonary exercise tests; c) I have many of the laboratory findings the research literature has established as common in ME patients (e.g., post-enteroviral sequelae, herpesvirus reactivation, low natural killer cell function, carnitine deficiency, pyruvate deydrogenase dysfunction, and acetylcholine receptor autoimmunity); and d) my symptoms have responding positively to common (US) treatments for ME/CFS, including antivirals and Mestinon. I am an acute, viral onset patient.

But do you have Ramsay ME (“the true ME”)?

Yes, yes I do.

But do you have ME as defined by the International Consensus Criteria (“the true ME”)?

Yes, yes I do.*

But everyone knows that ME is caused by an enterovirus. That is the “true ME.”

OK.

First, based on my clinical history and labs, John Chia believes my ME was caused by Coxsackie B4, an enterovirus, to which I have had repeated tests of antibody titers at or beyond the highest level the test measures, which strongly indicates an active infection. I have no idea if he’s right, but if an enterovirus antiviral ever makes it to the market, I’d really love to try it.

Second, I don’t know that I agree with this. There is very compelling evidence that the pre-1984 outbreaks were caused by an enterovirus. However, ever since doctors recognized that there were also sporadic cases, it became less clear whether we are dealing with a mono or multi-causal entity. I think it’s very possible that long before the definitional mess that was made of this disease in the 80s and 90s, doctors were diagnosing sporadic cases that may have had disparate causes. Why do I say this? Because unless you do infectious disease testing very early in the acute phase — which, absent an epidemic, is not the phase during which most people are diagnosed — it’s impossible to know for certain when you see a case not associated with an outbreak whether an enterovirus was the cause. In fact, to say “it’s caused by enterovirus” actually under-explains the disease in two says. One, we also know that the same enteroviruses can cause many different disease states. Two, if the enterovirus(es) that can trigger ME are anything like polio, the vast majority of people who are infected never even develop symptoms, others recover after a short illness, and only a fraction develop a chronic disease. Even if we defined ME as a strictly post-enteroviral disease, we’d still be potentially missing a lot about what causes it, who is susceptible, what the central mechanisms are, and how to cure it.

It is possible that when we say ME, we might be describing a common pathophysiology, for example, a type of autonomic nervous system damage or dysfunction. Or perhaps a “dauer” state triggered by persistent intracellular infection. However, if enteroviruses can trigger this central pathophysiology, there is no reason to think that other infectious agents or non-infectious triggers couldn’t as well. If we define the disease by the infection, then that would comprise multiple conditions. If we define it by the pathophysiology, that is, the ultimate disease state, then there’s every reason to think the same pathophysiology could be the result of many different causes.

Whether in the case of ME it makes more sense to group patients by a common cause (e.g., enteroviruses, mono, surgery, car accidents) or a common pathophysiology, we don’t yet know enough to say.

Wait, are you saying that ME is a form of autonomic dysfunction, i.e., dysautonomia?

I have no idea! Certainly, ME patients have dysautonomia. This is well-established. Whether it is the central cause or perpetuating factor or another downstream consequence, we don’t yet know. However, the conclusion the Workwell Foundation drew from its recent meta-study, “Chronotropic intolerance” is on my mind:

Pathophysiological processes consistent with autonomic dysregulation should be prioritized for etiologic studies in ME/CFS, independent of distal pathogenic causes and proximal multi-system effects.

In the paper they argue, in essence, that PEM is a kind of dysautonomia.

But you were just diagnosed with craniocervical instability and tethered cord syndrome. Do you really have ME?

🙄

It is possible to have more than one diagnosis.

But you just wrote a post about how all your doctors keep mentioning you have hEDS. Does that mean you really have hEDS and not ME?

🙄

No, I don’t have hEDS (hypermobile EDS): I do not meet any diagnostic criteria for hEDS OR HSD, past or present. In a previous post, I wrote that I did not check off any boxes on hEDS criteria. Meaning, when I look at the criteria, it’s not that I fail to meet the bar because of some arbitrary cutoff point. I literally do not have a single symptom. A lot of folks still wrote me, “See, I always knew you have hEDS!” No, I don’t. At least, not based on any current understanding or definition of hEDS.

But even if I did. It is possible to have more than one diagnosis.

Sure, when I see an EDS doctor for a specific complaint, they’re bound to assume I have EDS. What they really mean is: “you have a lot of symptoms I associate with my EDS patients.”

Many hEDS patients with severe symptoms/neurological involvement are also sensitive to light and sound, foods and odors, and have orthostatic tachychardia and a myriad of the neurological, gastrointestinal and autonomic symptoms mentioned in the ICC-ME. In fact there is a lot of overlap between the systemic symptoms many ME patients experience and what many hEDS patients experience. Do they also have post-exertional neuroimmune exhaustion (PENE), the only symptom strictly required by the ICC and a hallmark of the disease? Some might. What would that mean? Well, it means simply that since they meet both the clinical criteria for hEDS and ME, they have both hEDS and ME, as currently defined by their respective clinical criteria.

It does not mean they are the same condition! Again, some people have hEDS. Some people have ME. Some people have both hEDS and ME. What that means in the deepest sense, we still don’t know. We haven’t found the hEDS gene or the core pathology/pathophysiology in ME.

I recently asked my neurosurgeon, the one who performed my craniocervical fusion and tethered cord release, whether he thought I had EDS. He told me that there are roughly three categories of patients he sees: people with EDS, people who have had a severe physical injury/accident, and people with some other connective tissue disorder that is not EDS. “There are many connective tissue disorders, EDS is just the most common.” In his opinion, I must have some connective tissue disorder in order to have tethered cord and to have CCI without an overt neck injury. We just don’t know which one. “After all,” he said, “mast cell activation disorder is a connective tissue disorder.”

This — the similarities (and differences!) in clinical presentation, the assertion that I have connective tissue disorder X — are why I asked, “Are some of us members of a lost tribe?” I am not asserting that we are because I have no idea. I am asking a question I hope research can answer because yes, I think it is an important one.

But if you have an undiagnosed connective tissue disorder, do you still have ME?

It is possible to have more than one diagnosis.

Right, but isn’t ME just a giant umbrella for a lot of different conditions?

There are many possible answers to this question. One involves the way that bad definitions have made this diagnosis heterogenous beyond recognition and how many doctors still diagnose people they don’t know what to do with with “chronic fatigue syndrome” by exclusion rather than after thorough investigation and the use of more accurate criteria.

That is important but I think there’s an even more proximate answer: the question itself implies a form of exceptionalism that makes no sense given how we have defined so many other diseases. ME is no more or less an umbrella than breast cancer, MS, hEDS or a myriad of other conditions. It used to be that it was just “breast cancer.” Through research, we now know there are at least thirteen breast cancers. ME is a distinct clinical entity defined by clinical criteria. Does it mean that all patients have the same cause and pathophysiology? We have no idea. Maybe one day, we’ll find out that there is more than one ME, as defined, for example, by epigenetics, symptom clusters, disease progression, cause or response to treatment. That will only come by taking the clinical entity we have now and doing research.

In the meantime, I believe that all patients deserve thorough investigation for co-morbid or alternative diagnoses, and that every patient should fight within the constraints of access to health insurance or their country’s healthcare system to find specific, underlying reasons for their symptoms. On that front — access to quality care — we still have a very long way to go.

If a patient meets the criteria for ICC-ME but then later finds a specific cause of their symptoms, receives treatment, and improves or is cured as a result, does that mean they did not have ME?

No. Because ME is (now) a clinical entity defined by a set of symptoms. There are known cases of people with chromosomally integrated HHV-6, and chronic infections, for example, whose ME resolved after treatment. Some patients have had substantial success with antivirals or Ampligen. (These cases represent a small minority — most ME patients either do not have access to or do not respond to these treatments.) There are a few cases of ME patients whose symptoms resolved after surgery. If everyone who is able to identify a cause and course of treatment does not have ME, then that would render ME a diagnosis of exclusion where you can only have ME if you don’t know what is causing your symptoms. I do not think this makes any sense given that ME is defined by onset history and a set of symptoms. For each person who finds a cause and/or a treatment that resolves those symptoms, we have no idea to what extent they are unicorns or actually represent a significant chunk of patients. Moreover, it may still be that a common mechanism unites all of these disparate causes. We simply haven’t done the work and do not know enough yet to say.

That’s well and fine but research by which criteria?

In my opinion, 99% of the time, by criteria as strict as the Canadian Consensus Criteria or the International Consensus Criteria, unless there is a compelling scientific reason to define the sample otherwise. The most important thing is that the criteria is clearly mentioned as well as the justification/rationale for using it.

Why are you writing about your personal medical case? You’re just one patient. Who cares? And if your case turns out to not be representative, won’t that just send this all off the rails?

Well, you shouldn’t necessarily care! Focusing on any one case can be highly misleading. This is why I tried to a great degree to obscure my full panoply of treatments and their outcomes in Unrest. The specifics of my case were neither here nor there. What mattered was to convey the true severity and nature of this disease, the existence of this community and the neglect it has experienced from medical and research institutions.

However, once I was diagnosed with CCI and knew I would be having these major surgeries, I knew there was an outside chance I could die. I also knew there was a chance I could be cured. Because my case is so visible, I felt I needed to share my experience and be as open as possible because I’d rather the world know what has happened to me then for all this to be surrounded by rumor and conjecture.

I also know that not everyone has access to the full range of testing that I have had. I am privileged not just in the health insurance and family support I have, but in the thousands of emails I’ve received from patients whose ideas and individual stories all helped lead me down new paths. Sharing my story is my way of trying to ensure that this next step in my journey also benefits others.

*These symptoms reflect my case in 2012. Some of my symptoms have improved or resolved with medications, mold avoidance and surgery.

**I know how unfair it is that I have been able to consult with so many specialists when so many patients, whether for health, insurance, or funds, never get to see a single specialist. This is part of why I feel such a responsibility to share my experience. This is why I continue to fight for research so we can validate biomarkers, treatments, and secure better healthcare for everyone.

Read all the posts in my CCI + tethered cord series

Read this disclaimer. Crucially, surgery carries risks and it’s important to remember that in medicine, the same exact symptoms can have multiple, different causes. We have no idea how prevalent CCI is in our community and there’s been no research into its relationship with ME. We do know that it is more common among patients with EDS.