Presentation on theme: "Erdheim-Chester Disease"— Presentation transcript:
1 Erdheim-Chester Disease ECD Global AllianceOctober 2010
2 What is Erdheim-Chester Disease? Non-Langerhans Cell HistiocytosisToo Many Histiocytes (cells which normally fight infections) Infiltrate OrgansCauses Scar-Like Tissue to Surround the Organs & ArteriesBone, Brain, Kidney, Eyes, Lungs, Abdominal Tissue/Organs, Cardiovascular, Skin and More Rarely OthersSymptoms Vary Between Patients Depending on Which Organs are InvolvedWithout 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) PathologistOnly About 350 Published Cases in the WorldNever Heard of by Most DoctorsDiagnosis is Difficult and Time Consuming, Made Only by Chance in Some CasesNot Known if Cancer, Auto-Immune, Genetic, etc.
4 What is the Status of ECD? Only a Handful of Doctors Have Treated Multiple CasesAnecdotal Treatments AvailableImmunotherapy, chemotherapy, radiation, surgery, hormone therapy, corticosteroids, anti-inflammatory drugs, antimetobolite, new cancer drug which specifically inhibits a particular enzymeResults are VariableLiterature Says Most Succumb in 2 to 3 Years, However We See Some Patients Live for DecadesInternational 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 NotDoctors have Not Seen or Studied Many of the Rare DiseasesOften Patients Find the Validity of Their Symptoms Being QuestionedDiagnosis Often Takes Years with Patients Shuffled from One Specialist to AnotherDiagnosis is difficult.30% of Patients Take 3 to 5 Years to Diagnosis15% of Patients Wait 7 Year or More for DiagnosisAnd those are the lucky ones, some, like Gary, never get diagnosedBecause 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 ItselfGetting a DiagnosisFinding Knowledgeable DoctorsNo Agreement on Best TreatmentsHealth Care Costs / Insurance CoverageExpert Doctors Most Likely Out of NetworkTreatments not Scientifically VerifiedTransportation / Housing CostsDisability Difficult to ObtainLack of Support StructureLack of Information Relative to Progression
7 Status of the ECD Global Alliance RFP for Research Project CommunicatedTeleconference with ECD Patients and Dr. KurzrockDr. Vaglio’s Treatment Protocol CommunicatedMedical Advisory Board FormedCarol, Kathy, RuthAnn Met by PhoneDr. Haroche’s HLA Study CommunicatedMar. ‘10Jan. ‘09Aug. ‘09Apr. ‘08Oct. ‘08Jan. ‘08Sep. ‘08Oct. ‘08Apr. ‘09Dec. ‘09Apr. ‘10First Online Chat Session HeldPublished websiteFirst Newsletter Published501(c)(3) Non-Profit Paperwork Submitted & Board of Directors Formed501(c)(3) Tax Exempt Status Granted, Effective as of Aug. 28, 2009Organizational ActivitySupport ActivityBringing Information to PatientsPromoting Research
8 ECD Global Alliance What is Needed? Raise Additional Research FundsContinue Dialogue with Research PhysiciansCreate and Maintain Patient RegistryFuture ECD SymposiumSupport 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