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
response of the patient to the
organism.
immunological 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 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
CFS 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
Groups of patients often dependent upon physician’s practice
No national repository of patient samples
Research definition lacks specificity Patients are all grouped together 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
Cardiovascular Gastrointestinal Musculoskeletal Endocrine
Neurological abnormal brain scans EEG results abnormal Dysautonomia Disordered sleep Seizures
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
Chronic infections
Mitochondria
Autoimmunity
Genetic Susceptibility
Environmental Toxins
Create National Research Resources
Bio bank
Patient Registry
Cell lines
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!