1. Erdheim-Chester Disease
ECD Global Alliance
October 2010

2. What is Erdheim-Chester Disease?
Non-Langerhans Cell Histiocytosis
Too Many Histiocytes (cells which normally fight infections) Infiltrate Organs
Causes Scar-Like Tissue to Surround the Organs & Arteries
Bone, Brain, Kidney, Eyes, Lungs, Abdominal Tissue/Organs, Cardiovascular, Skin and More Rarely Others
Symptoms Vary Between Patients Depending on Which Organs are Involved
Without Successful Treatment: Organ Failure

3. Why Have I Never Heard of ECD?
First Described in 1930 by an Austrian (Dr. Erdheim) and an American (Dr. Chester) Pathologist
Only About 350 Published Cases in the World
Never Heard of by Most Doctors
Diagnosis is Difficult and Time Consuming, Made Only by Chance in Some Cases
Not Known if Cancer, Auto-Immune, Genetic, etc.

4. What is the Status of ECD?
Only a Handful of Doctors Have Treated Multiple Cases
Anecdotal Treatments Available
Immunotherapy, chemotherapy, radiation, surgery, hormone therapy, corticosteroids, anti-inflammatory drugs, antimetobolite, new cancer drug which specifically inhibits a particular enzyme
Results are Variable
Literature Says Most Succumb in 2 to 3 Years, However We See Some Patients Live for Decades
International Disease Advocacy Group Formed – ECD Global Alliance –

5. First a Diagnosis is Needed
“When you hear hoofbeats, think horses, not zebras”
Specialists Often Only Know What it is Not
Doctors have Not Seen or Studied Many of the Rare Diseases
Often Patients Find the Validity of Their Symptoms Being Questioned
Diagnosis Often Takes Years with Patients Shuffled from One Specialist to Another
Diagnosis is difficult.
30% of Patients Take 3 to 5 Years to Diagnosis
15% of Patients Wait 7 Year or More for Diagnosis
And those are the lucky ones, some, like Gary, never get diagnosed
Because it may take years to obtain a diagnosis, it means the patient is sick for all that time without knowing what is wrong. Without knowing a prognosis. Often times they feel they are going crazy, after all if I were really sick the doctors would be able to see it.
Because doctors are trained to help people, when they can’t they often believe it is a problem another specialist must know about. Consequently, patients are often shuffled from one specialist to another. Again, those are the lucky ones. The unlucky ones are told, “It’s all in your head” or “Well, you know you are getting older.” or “He’ll grow out of it.”
The present data suggest that, among the approximately 850 000 individuals dying in US hospitals each year,59-60 a major diagnosis remains clinically undetected in at least 8.4% of cases (71 400 deaths). The data also suggest that approximately 34 850 of these patients might have survived to discharge had misdiagnosis not occurred, but this estimate depends on the accuracy of the designator of class I error. Although, this second number is more speculative, given the dependence of class I error estimates on methodological features of the primary studies, it can be considered in the context of the Institute of Medicine's estimates of 44 000 to 98 000 preventable deaths per year due to medical error. (1) Journal of the American Medical Association, Jun 2003; Changes in Rates of Autopsy-Detected Diagnostic Errors Over Time.

6. What Are the Patient Issues?
Sickness Itself
Getting a Diagnosis
Finding Knowledgeable Doctors
No Agreement on Best Treatments
Health Care Costs / Insurance Coverage
Expert Doctors Most Likely Out of Network
Treatments not Scientifically Verified
Transportation / Housing Costs
Disability Difficult to Obtain
Lack of Support Structure
Lack of Information Relative to Progression

7. Status of the ECD Global Alliance
RFP for Research Project Communicated
Teleconference with ECD Patients and Dr. Kurzrock
Dr. Vaglio’s Treatment Protocol Communicated
Medical Advisory Board Formed
Carol, Kathy, RuthAnn Met by Phone
Dr. Haroche’s HLA Study Communicated
Mar. ‘10
Jan. ‘09
Aug. ‘09
Apr. ‘08
Oct. ‘08
Jan. ‘08
Sep. ‘08
Oct. ‘08
Apr. ‘09
Dec. ‘09
Apr. ‘10
First Online Chat Session Held
Published website
First Newsletter Published
501(c)(3) Non-Profit Paperwork Submitted & Board of Directors Formed
501(c)(3) Tax Exempt Status Granted, Effective as of Aug. 28, 2009
Organizational Activity
Support Activity
Bringing Information to Patients
Promoting Research

8. ECD Global Alliance What is Needed?
Raise Additional Research Funds
Continue Dialogue with Research Physicians
Create and Maintain Patient Registry
Future ECD Symposium
Support for Patients with Regard to Disability and Other Related Issues

9. What Can We All Do? Be Supportive Be an Advocate Be an Organ Donor
Be Generous

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