Missed Diagnosis
Confirming a diagnosis of myalgic encephalomyelitis
My advocacy for many years has been focused on the importance of thorough screening before settling on a diagnosis.
I have seen far too many people find out they had something other than “CFS” “ME/CFS”, “ME” or Fibromyalgia years after getting a diagnosis. Even some who were examined by “ME experts” have later discovered an alternate cause for their symptoms.
I have experienced that horrible nagging feeling of wondering if I have something other than myalgic encephalomyelitis. None of this is easy, so I have tried to approach confirming my diagnosis by crossing one bridge at a time.
The June 14, 2023 article, Multiple Sclerosis Has a Misdiagnosis Problem in Medscape Pediatrics discusses how multiple sclerosis (MS) is also hard to diagnose. It underscores how important it is to make sure everyone in this chronic illness community is thoroughly screened for proper diagnosis.
The article states:
“In the ongoing absence of a reliable biomarker for multiple sclerosis (MS), misdiagnosis is a common, and persistent, problem that potentially puts patients at prolonged and unnecessary risk.”
“For instance, one research paper reported that nearly 20% of patients were misdiagnosed with MS and that more than 50% carried the misdiagnosis for at least 3 years, while 5% were misdiagnosed for 20 years or more.”
I know many of us have experienced neurologists who don’t know to screen for myalgic encephalomyelitis. It seems reasonable to assume that at least some of these people they refer to being misdiagnosed may have ME.
My diagnosis journey started with a whisper from a nurse in 1990 to look into chronic fatigue syndrome. I lived in Southern California where there were doctors who had experience with outbreaks. We found a neurologist in Los Angeles who confirmed the diagnosis. That was the only good experience I have had with neurologists in 34 years. Chronic Fatigue Immune Dysfunction Syndrome (CFIDS) was the label at that time. For me having the immune dysfunction in the name matched closely to what I have experienced. Dropping that has caused immeasurable harm as doctors routinely ignore the immune dysfunction side of ME as well as the neurological aspect.
Having ME for decades has been the most effective method of ruling out other diseases. But that is a terrible way to confirm ME and my advocacy has always been about how to empower patients to effectively confirm their diagnosis as quickly as possible. As part of my advocacy, I helped create this list of conditions to rule out.
Dr Hyde's 2010 publication of Missed Diagnoses ME & CFS (2nd edition) helped me understand what may have been missed in my own journey. I have shared it with a few doctors who were receptive. The book offers details about how a doctor should go about confirming an ME diagnosis. It delves into the importance of thorough thyroid and parathyroid testing, sleep studies, brain scans, cardiac testing, lab tests, and much more. These tests are needed to make sure an alternate diagnosis has not been missed.
Dr. Hyde points out the importance of understanding that a “chronic fatigue syndrome (CFS)” diagnosis is not the same as an ME diagnosis.
From pages 20/21 of Missed Diagnoses ME & CFS by Dr. Byron Hyde:
“The physician and patient alike should remember that CFS is not a disease. It is a chronic fatigue state as described in four definitions… [Holmes et al 1988, Lloyd/Hickie et al 1990, Oxford 1991, CFS-Fukuda]. … Where the one essential characteristic of M.E. is acquired CNS [central nervous system] dysfunction, that of CFS is primarily chronic fatigue.”
“The CFS definitions have another curiosity. If in any CFS patient, any major organ or system injury or disease is discovered, the patient is removed from the definition. The CFS definitions were written in such a manner that CFS becomes like a desert mirage: The closer you approach, the faster it disappears and the more problematic it becomes.”
The webpage Understanding Myalgic Encephalomyelitis (M.E.) on the Nightingale Research Foundation website covers the background as well as what is essential to make a diagnosis with links to their definition of ME in English, French, Norwegian and Danish.
See all publications from Nightingale Research Foundation HERE.
The ME International Consensus Primer for Medical Practitioners, written in 2012, also offers important information to help doctors pursue a more thorough screening in order to prevent missed diagnoses. The Personalized Assessment and Diagnosis section, starting on page 6, offers guidance on what signs to watch for to make a diagnosis. It also includes biological testing on page 11.
On page ii the ME IC Primer states:
“The purpose of diagnosis is to provide clarity. The criterial symptoms, such as the distinctive abnormal responses to exertion can differentiate ME patients from those who are depressed or have other fatiguing conditions. Not only is it common sense to extricate ME patients from the assortment of conditions assembled under the CFS umbrella, it is compliant with the WHO classification rule that a disease cannot be classified under more than one rubric. The panel is not dismissing the broad components of fatiguing illnesses, but rather the ICC are a refinement of patient stratification. As other identifiable patient sets are identified and supported by research, they would then be removed from the broad CFS/CF category.”
In order to obtain proper treatment, it is imperative that doctors take the necessary steps to make sure the diagnosis is accurate. It is important for proper treatment and for researchers to have subjects who actually have ME to participate in their studies.
I know that with advancements in medicine everyone with these hard to diagnose diseases like MS and ME will have access to a biomarker test. While we wait for that day, we need thorough screenings to make sure doctors give all of us an accurate diagnosis as quickly as possible.
I think empowering patients with tools to seek out an accurate diagnosis is important advocacy. I welcome feedback about more tools.
Colleen
Information provided here or in comments is not to be considered medical advice
Screening out arrogance would be great!
So many diseases are still determined by exclusion. We are dealing with my partner's recent diagnosis of ALS, and although a basic screen was done, trying to get other possibilities tested for is a slog — essentially existing in a medical desert. Fortunately we now have a neurologist who has done a lumbar puncture to test CSF. Hopefully greater and easier genetic research and screening will bring targeted treatments if not cures. If we could screen arrogance out of the medical arena it would be a giant step forward.