introduction and overview although it has been over 25 years since the cdc investigated an outbreak...

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 chronicRelapsing and remitting

and/or progressive

ME is not:

Psychological depressionA 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-powerCaused by too little sleep/tirednessCaused by working too hardCaused 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)

Dr. Ramsey described ME in 1956A neurological disease

Abnormal immunological response of the patient to the organism. Circulatory disorderAbnormal cerebral activityAny excessive physical or mental stress is likely to precipitate a relapse.Tends to be chronic

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 VIDiseases of the nervous system(G00-G99)

G93.3Post viral fatigue syndrome

Benign myalgic encephalomyelitis

They are joined

Challenges: Yesterday and Today

DoctorsPatientsFamilies 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 FamiliesLack of centralized accurate informationLack of emotional support for entire

familyLack of medical supportLack of financial support for medical careLoss of income and/or functioning family

memberLack 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 Startbecause 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 diseaseIndustry develops and sells diagnostic

testsDiagnostic tests lead to pharmaceutical

treatments Mandatory insurance coverage of testing

and treatmentKnowledge equals better physician

education

Keys to Defining DiseaseConcise 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. RamseyKnowledge 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?

AmpligenAntiviralsAnti-retroviralsImmune SupportAnti-fungalsAnti-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 Registry

Cell 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!