Whittemore - Institute of Medicine
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Transcript 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
category.
1988: How Can Anyone Mistaken
this illness for Depression or
Fatigue?
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
insufficiency.
Our 26 year Long Battle isn’t Over
Number
of years to diagnosis: 2
Number of major medical institutions visited:
4
Doctors and specialists consulted over 26
years includes: pediatricians,
gastroenterologists,(gastro-paresis)
cardiologists,(tachycardia)
endocrinologists, psychiatrists,
psychologists, internists, infectious disease
specialists,(infections) hematologist
oncologist,(severe anemia) surgeons,(gall
bladder disease) family medicine,
complementary
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
progressive
ME is not:
Psychological
depression
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
Diagnostics
Treatments/great variation depending upon physician
Lack of coordinated medical care with other medical
specialists
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
Autism
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
organism.
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
Definitions
ME
CFS
Acute onset follows
respiratory or
gastrointestinal
illness/low grade fever
Circulatory
abnormalities/cold
extremities/ashen pale
Cerebral
symptoms/memory,
concentration,
emotional liability
Abnormal
immunological
response
Fluctuating symptoms
Chronic
Follows infectious
illness/environmental
toxins
Chronic infectious
symptoms
Muscle pain/weakness
Neurological
symptoms/memory,
concentration/ ataxia,
seizures,
Dysautonomia
Post exercise malaise
Relapsing/remitting
symptoms
Chronic
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
(G00-G99)
G93.3
Post
viral fatigue syndrome
Benign myalgic
encephalomyelitis
They are joined
Challenges: Yesterday and Today
Doctors
Patients
Families
of those with ME
Researchers
Challenges for Physicians
No approved biological diagnostic tests
No FDA approved pharmaceutical
treatments
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
member
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
researchers
Definition: needs to add biological
information to be more concise
Most significant underlying feature should be
stressed
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
damage.
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
theories
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
treatments
Mandatory insurance coverage of testing
and treatment
Knowledge equals better physician
education
Keys to Defining Disease
Concise
description: one sentence
that categorizes the disease:
neurological,autoimmune,
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
Immunological
low NK cell function and
number
Gut pDCs produce HERV
proteins (auto antibodies)
Inflammatory cytokines
Neurological
abnormal brain scans
EEG results abnormal
Dysautonomia
Disordered sleep
Seizures
Cardiovascular
Gastrointestinal
Musculoskeletal
Endocrine
Systemic
Infections
low glutathione, low
blood volume and
abnormal VO2 max.
Energy deficits
Major Symptoms
Cognitive
Impairment
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,
fainting,
Profound loss of energy: post exercise
fatigue
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
misinformation
#2 Improve the Biological
Definition
……..
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
Needed
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
complicated
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
research
Help to develop medical standards,
for emergency room visits,
anesthesia and surgery
Can We Learn from Responders?
Ampligen
Antivirals
Anti-retrovirals
Immune
Support
Anti-fungals
Anti-bacterials
Clinical Studies Backed by Research Can
Tell Us What we Need to Know!
Create a Research Road Map
Innate
immunity
Mitochondria
Autoimmunity
Chronic
infections
Genetic
Susceptibility
Environmental
Toxins
Create National Research Resources
Patient
Cell
Registry
lines
Bio
bank
Animal
model
What One Patient Wished the
Doctors Knew
I
have very bad days when I am too sick to see
you
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
disease:
Thank you!