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Orphan Diseases ECD Global Alliance October 2010 What is an Orphan Disease? • A Disease Affecting So Few People That: – There is no reasonable expectation that the cost of developing and making available a drug for such disease or condition will be recovered from sales • Therefore: – It is Not Cost Effective to Spend Money on Research – It has been Virtually Ignored with Little Medical Attention or Other Support • Otherwise Known as a Rare Disease Definition of Rare Disease • Affects Less Than 200,000 People in US • A Doctor in a Busy Practice Would Expect to See Less Than 1 Case per Year • 7000 Known Rare Diseases • 85 to 90% are Chronic, Serious or Life Threatening • 80% are Genetic • Although Each Rare Disease is Rare, Rare Diseases are NOT Rare Obtained From the National Organization of Rare Diseases (NORD) Who is Affected? • About 1 in 10 People in the US Have a Rare Disease • Typically Specific Age Groups (e.g., children or over 40’s) • Patients, Families, Friends, Medical Staff, Society • No Disease is Rare When it Strikes Someone You Love 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 • No “Diagnostician” Specialty 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 How Does the Patient Feel? • "I just want to know what is wrong with me so I can fight it." - Jock, 48 year old undiagnosed patient, weeks before his death • “Some days I wish I had cancer…When you have a disease like mine, you don’t fall through the cracks in the system, you fall through a gaping abyss.” – Mark Screiber, 46 year old with Aplastic anemia Newsweek, April, 2008 • “Alone” • “In a Nightmare” • “Abandoned by the Medical Profession” • “An Exercise in Patience” How Does the Caregiver Feel? • Scared • Helpless • Exhausted • Family Stress • “Having dealt with his diagnosed, and later his undiagnosed, health problems I can say the latter is so much worse and I still find it unbelievable that he died” - 33 year old caregiver, 2 yrs after undiagnosed death of spouse who was a successful lung-transplant recipient What Must It Be Like for a Doctor? • Taught to Think “Horses” When Hoof beats are Heard; Maybe a “Zebra” • Frustrating • Time Consuming • Humbling • Doctors are Trained to Help People Is There Hope? • Yes, But Much Needs to be Done • Successful Treatments are Being Developed • More Support Organizations Available • Internet Allows Patients to Find Each Other, Share Information and Promote Research • NORD – National Organization for Rare Disorders www.rarediseases.org • Clinical Trials – www.clinicaltrials.gov • National Institute of Health (NIH) – www.nih.gov • New Legislation in Place to Help with Research Funding and Approvals A Little History Total of 10 Treatments Developed for 1800+ Products Entered ALL Rare Pipeline; 350 Approved Diseases 1973 1983 1990 2002 2008 2010 Orphan Drug Safe Rare Disease NIH Act Giving Medical Act Enabling Undiagnosed Drug Devices Act NIH Office of Disease Manufacturers Rare Program Incentives Diseases (ORD) Changes Underway • Genome Studies • Personalized Medicine – “It’s all about me!” • Research Focus on Disease Similarities Rather than Disease Specific A Specific Disease – Erdheim-Chester Disease • Too Many Histiocytes (cells which normally fight infections) • Can Infiltrate All or Some Organs – Bone, Brain, Kidney, Eyes, Lungs, Abdominal Tissue/Organs, Cardiovascular, Skin and More Rarely Others • Causes Scar-Like Tissue to Surround the Organs & Arteries • Symptoms Vary Between Patients Depending on Which Organs are Involved • Can be Extremely Painful; Causes Extreme Fatigue • Without Successful Treatment: Organ Failure ECD is an Extremely Rare Disease • First Described in 1930 by Two Pathologists- Chester(American) and Erdheim (Austrian) • Only About 300 Published Cases in the World • Never Even Heard of by Most Doctors • Diagnosis is Difficult and Time Consuming, Made Only by Chance in Some Cases • No Classification - More Like “Homeless Orphan” Disease What is the Status of ECD? • VERY Few Doctors Have Heard of It, Fewer Have Treated It, Only a Handful 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; I’ve met people who have been diagnosed for 22, 18, and 13 years • International Disease Advocacy Group Formed – ECD Global Alliance – www.erdheim-chester.org Status of the ECD Global Alliance Teleconference Dr. Vaglio’s Medical RFP for Carol, Kathy, with ECD Dr. Haroche’s Treatment Advisory Research RuthAnn Met Patients and Dr. HLA Study Protocol Board Project by Phone Kurzrock Communicated Communicated Formed Communicated Mar. ‘10 Jan. ‘09 Aug. ‘09 Apr. ‘08 Oct. ‘08 Jan. ‘08 Sep. ‘08 Oct. ‘08 Apr. ‘09 Dec. ‘09 Apr. ‘10 First Published First 501(c)(3) 501(c)(3) Online www.erdheim-chester.org Newsletter Non-Profit Tax Exempt Chat website Published Paperwork Status Session Submitted & Granted, Held Board of Effective as Directors of Aug. 28, Formed 2009 Organizational Activity Support Activity Bringing Information to Patients Promoting Research ECD Global Alliance Future Steps • Continue Dialogue with Research Physicians • Raise Additional Research Funds • Future ECD Symposium • Possible Registry • Support for Patients with Regard to Disability and Other Related Issues What I Learned Family, Treating Friends, & Doctors Faith You Responsible for: •Communicating •Up-to-Date Records •Keeping Team Focused Advocacy Researchers Groups What Advice Would I Give Another? • KEEP RECORDS UP-TO-DATE • Solicit General Doctor to Coordinate Care • Communicate • Do Your Own Research; Be Persistent • Insurance • Ask for What You Need and Expect It What Can We All Do? • Be Supportive • Be an Advocate – Find a Doctor Who Specializes in the Specific Disease – Find a Support Organization Online – www.pubmed.gov – www.clinicaltrials.gov • Be Generous • Be an Organ Donor ? ? ? ? ? ? Questions? ? ? ? ? ? ? ?
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