Whittemore - Institute of Medicine

Introduction and Overview
Although it has been over 25 years since
the CDC investigated an outbreak of this
disease in northern Nevada, Chronic
fatigue syndrome is still lacking an
appropriate name, a concise biological
definition and an agreed upon medical
1988: How Can Anyone Mistaken
this illness for Depression or
Strep throat and non-EBV mono in the
same week. She had a fever,
lymphadenopathy, severe pain and
muscle weakness.
 Doesn’t recover but returns to school
 First physical diagnosis: Adrenal
Our 26 year Long Battle isn’t Over
 Number
of years to diagnosis: 2
 Number of major medical institutions visited:
 Doctors and specialists consulted over 26
years includes: pediatricians,
endocrinologists, psychiatrists,
psychologists, internists, infectious disease
specialists,(infections) hematologist
oncologist,(severe anemia) surgeons,(gall
bladder disease) family medicine,
This is what patients want; You can
them get here!
Living healthy, happy and full of energy
This is where we are today:
people are still asking
“What is fatigue?”
“Are you sick or tired?”
Simple: “Can you exercise
the next day?”
ME is:
 Characterized
by: inflammation,
abnormal immune function, multiple
infections, mitochondrial
dysfunction, rapid disability and
exercise intolerance
 Complex and chronic
 Relapsing and remitting and/or
ME is not:
 Psychological
 A benign disorder (one which resolves
completely with therapy or does not
impact lifespan)
 A Somatization disorder (one in which
there is no physical cause of disease)
 A matter of will-power
 Caused by too little sleep/tiredness
 Caused by working too hard
 Caused by childhood abuse
Medical Challenges
How does one explain an illness called, Fatigue?
Inappropriate name for one common symptom
Symptomatic Definition/diagnosis of exclusion
Lack of medical knowledge/not adequately explained
Physician shortage/those willing to treat patients
Treatments/great variation depending upon physician
Lack of coordinated medical care with other medical
Medical subspecialty (disease experts)
Public information is misleading, causing confusion
and lack of support of those who are ill
A Disease with Many Names or are
there Many Diseases?
Myalgic Encephalomyelitis, ME
Post Infectious Fatigue or Chronic Fatigue Syndrome,
Fatigue, CFS, CFS/ME
 Other
similar diseases or subgroups:
Gulf War Illness: Multi-symptom illness resulting in loss
of physical and mental stamina
Mycotoxin Illness: Multi-symptom illness due to
mitochondrial and immunological damage from
mold infections and their mycotoxins along with other
pathogens found in water damaged buildings
Chronic /Post-Lyme Disease
The name “Chronic Fatigue
Syndrome” has got to go!
 Fatigue
has been reduced to “tiredness”
 Fatigue is only one of many symptoms
 Fatigue is not the most severe symptom
 Fatigue is difficult to quantify and often
confused with depression
Before “Chronic Fatigue Syndrome” it was
called Myalgic Encephalomyelitis (ME)
A neurological disease
Abnormal immunological
response of the patient to the
Circulatory disorder
Abnormal cerebral activity
Any excessive physical or
mental stress is likely to
precipitate a relapse.
Tends to be chronic
Dr. Ramsey described
ME in 1956
Compare Symptoms/Not
 ME
Acute onset follows
respiratory or
illness/low grade fever
extremities/ashen pale
emotional liability
Fluctuating symptoms
Follows infectious
Chronic infectious
Muscle pain/weakness
concentration/ ataxia,
Post exercise malaise
2011: Myalgic Encephalomyelitis
International Consensus Criteria
 Myalgic
Encephalomyelitis is an
acquired neurological disease with
complex global dysfunction.
 Pathological dysregulation of
nervous, immune and endocrine
systems with impaired cellular
energy metabolism, and ion
transport are prominent features.
Other Biological Disease Definitions
 Lupus
is a chronic, autoimmune
disease that can damage any part of
the body (skin, joints, and/or organs
inside the body) LFA
 Multiple
sclerosis (MS) is …. A disease
of the central nervous system that
disrupts the flow of information within
the brain, and between the brain and
body. (MS society)
ICD-10 Chapter VI
Diseases of the nervous system
viral fatigue syndrome
Benign myalgic
They are joined
Challenges: Yesterday and Today
of those with ME
Challenges for Physicians
No approved biological diagnostic tests
 No FDA approved pharmaceutical
 Insurance coverage denied for testing
and treatments
 Need guidelines for emergency room,
anesthesia or surgery
Challenges for ME/
CFS Patients
 Name
of illness trivializes impact and
ignores reality of infectious and
immunological aspects of disease
 Lack of understanding of complexity and
severity of disease
 Difficulty finding doctors who are
knowledgeable about ME
 Lack of means to pay for
appropriate medical care
Challenges for Families
 Lack
of centralized accurate information
 Lack of emotional support for entire family
 Lack of medical support
 Lack of financial support for medical care
 Loss of income and/or functioning family
 Lack of educational support/guidelines
Challenges for Researchers
 Too little research funding
Research definition lacks specificity
 Patients are all grouped together
 Groups of patients often dependent
upon physician’s practice
 No national repository of patient samples
 No clinical centers of excellence
Obstacles to Progress
 Disagreement
by most physicians and
 Definition: needs to add biological
information to be more concise
 Most significant underlying feature should be
 ME has an ICD10 medical category
(neurological) but it is not listed in the NIH
research home: NINDS, why not?
 For most, CFS is still a diagnosis of exclusion
 Most biological research has been ignored in
government definition
Doctors Who Misunderstand
 Internist:
“If I don’t know what it (abnormal
viral titers) means it can’t be important.”
 Neurologist: “I didn’t read her medical
reports because the facts might get in the
way of my theory.”
 Neurologist: “I couldn’t read her MRI: it
probably wasn’t important anyway.”
 Surgeon: “I won’t do her gallbladder
surgery because she has CFS.”
 Cardiologist: “I can’t treat her tachycardia
because she has CFS.”
 ER doctor: “I could give her fluids if she
had an immune deficiency.”
CDC Definition Lacks Scientific
Information for CFS
 Chronic
fatigue syndrome (CFS) is a
debilitating and complex disorder
characterized by intense fatigue that is
not improved by bed rest and that may
be worsened by physical activity or
mental exertion.
 Systemic Lupus Erythematosus is an
autoimmune disease in which the
immune system produces antibodies to
cells within the body leading to
widespread inflammation and tissue
A New Beginning
Possible Solutions: A Fresh Start
because ME has become CFS
 Rename
the disease: perhaps after the person
who first described ME: Dr. Ramsey; Ramsey’s
 Use the CCC criteria for clinical definition and
add a biological one sentence definition.
 Seek international input to create suggested
diagnostic and treatment protocols based on
biological science not on psycho-social
 Select a medical specialty to focus on this
disease: Neurology and/or infectious disease?
Why is a Name so Important?
 Disease
name and definition determines
research emphasis and funding
 Research identifies biomarkers of disease
 Industry develops and sells diagnostic tests
 Diagnostic tests lead to pharmaceutical
 Mandatory insurance coverage of testing
and treatment
 Knowledge equals better physician
Keys to Defining Disease
 Concise
description: one sentence
that categorizes the disease:
infectious, toxic, inflammatory,
mitochondrial, etc.
 Identifies the effect of the disease
on various parts of the body
 Identifies the risks or complications
associated with the disease
Biological Abnormalities Associated
with ME/CFS
low NK cell function and
Gut pDCs produce HERV
proteins (auto antibodies)
Inflammatory cytokines
abnormal brain scans
EEG results abnormal
Disordered sleep
low glutathione, low
blood volume and
abnormal VO2 max.
Energy deficits
Major Symptoms
 Cognitive
 Dysautonomia
 Pain; nerves, joints, muscles
 Lymphadenopathy, sore throat, severe
headaches, low grade fevers
 Disordered and unrefreshing sleep
 Gastrointestinal distress/gastro
paresis/nausea, vomiting, hypoglycemia
 Tachycardia, chest pain, dehydration,
 Profound loss of energy: post exercise
How important are mitochondria
to those with ME/CFS?
 Mitochondrial
disease: Symptoms may
include loss of motor control, muscle
weakness and pain, gastrointestinal
disorders and swallowing difficulties, poor
growth, cardiac disease, liver disease,
diabetes, respiratory complications,
seizures, visual or hearing problems, lactic
acidosis, developmental delays and
susceptibility to infection.
 Adult onset is becoming more prevalent
#1:Change the Name: Drop
Fatigue and ME
 Name
for first person to describe ME after
UK outbreak: Dr. Ramsey
 Knowledge
of disease changes over time
without having to change the name
 Subgroups can be identified such as
Ramsey 1, Ramsey 2, etc.
 New name will end old stigmas and
#2 Improve the Biological
 ……..
is a complex (neuro-inflammatory) disease.
It is triggered by infection and toxic environmental
exposures which result in…..
 Symptoms include mild cognitive impairment….
 This disease may follow a relapsing and remitting
course or become progressively worse over time.
 It is associated with an abnormal immune response
to various pathogens most notably borrelia, herpes
viruses, entero-viruses and mycoplasma in addition
to fungi and their mycotoxins.
 It is chronic and can be severely debilitating
#3 Identify a Medical Specialty as
 Disease
affects the nervous system and is
immune and pathogen driven
 Disease is debilitating
 Disease is difficult to manage because of
changing nature and complexity
 Evaluation should be comprehensive
 Diagnosis and treatment may be
 Treatment may require intravenous drugs or
drug mixtures/knowledge of long term
treatment protocols
#4 Educate the Medical
Profession and the Public
 Information
should be kept up to date
 Based on biological science
 Consistent from one entity to another
 Continue to change and add new
information as it becomes available
 Seek input from physicians, researchers
and patients
Future Action Items for ME Experts
 Create
science based medical
education text and online seminars
 Identify lead NIH research institutes
 Improve funding and focus of
 Help to develop medical standards,
for emergency room visits,
anesthesia and surgery
Can We Learn from Responders?
 Ampligen
 Antivirals
 Anti-retrovirals
 Immune
 Anti-fungals
 Anti-bacterials
Clinical Studies Backed by Research Can
Tell Us What we Need to Know!
Create a Research Road Map
 Innate
 Mitochondria
 Autoimmunity
 Chronic
 Genetic
 Environmental
Create National Research Resources
 Patient
 Cell
 Bio
 Animal
What One Patient Wished the
Doctors Knew
have very bad days when I am too sick to see
 I have many other medical problems that you
might be able to treat
 My disease has many other symptoms that are
much worse than fatigue.
 Don’t blame all of my symptoms on my illness: you
may miss something important
 I try everyday to help myself through diet, limited
exercise, supplements and prayer
 I want to get well more than anything!
Follow progress of other
disease groups to improve the
lives of those with this disease!
 MS:
 Lupus:
 Cancer:
 Mitochondrial
Thank you!

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