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 40s) 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 dont 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 Clinical Trials – National Institute of Health (NIH) – New Legislation in Place to Help with Research Funding and Approvals

A Little History Total of 10 Treatments Developed for ALL Rare Diseases Orphan Drug Act Giving Drug Manufacturers Incentives Safe Medical Devices Act Rare Disease Act Enabling NIH Office of Rare Diseases (ORD) NIH Undiagnosed Disease Program Products Entered Pipeline; 350 Approved 2010

Genome Studies Personalized Medicine –Its all about me! Research Focus on Disease Similarities Rather than Disease Specific Changes Underway

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; Ive met people who have been diagnosed for 22, 18, and 13 years International Disease Advocacy Group Formed – ECD Global Alliance –

Status of the ECD Global Alliance Carol, Kathy, RuthAnn Met by Phone First Online Chat Session Held Published website Teleconference with ECD Patients and Dr. Kurzrock First Newsletter Published 501(c)(3) Non-Profit Paperwork Submitted & Board of Directors Formed Jan. 08 Apr. 08 Sep. 08 Oct. 08 Jan. 09 Apr. 09 Aug. 09 Dr. Vaglios Treatment Protocol Communicated Dr. Haroches HLA Study Communicated Organizational ActivitySupport ActivityBringing Information to Patients April 25, 2010 Medical Advisory Board Formed Dec (c)(3) Tax Exempt Status Granted, Effective as of Aug. 28, 2009 Mar. 10 Promoting Research Apr. 10 RFP for Research Project Communicated

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 You Responsible for: Communicating Up-to-Date Records Keeping Team Focused Treating Doctors Researchers Advocacy Groups Family, Friends, & Faith

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 – – Be Generous Be an Organ Donor

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