Erdheim-Chester Disease ECD Global Alliance October 2010

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

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.

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 – www.erdheim-chester.org

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.

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

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 www.erdheim-chester.org 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

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

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

? ? ? ? ? ? ? ? ? ? ? ? ? ? ? Questions? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ?