Orphan Diseases & One Patient’s Fight Against Erdheim-Chester Disease

1. Orphan Diseases& One Patient’s Fight Against Erdheim-Chester Disease

2. What is an Orphan 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 • 8% of Population Diagnosed with Rare Disease • Approximately 5 New Diseases are Described Every Week in the Medical Literature • No Disease is Rare When it Strikes Someone You Love Data Obtained From the National Organization of Rare Diseases (NORD)

3. Orphan Disease Facts • 85 to 90% are Chronic, Serious or Life Threatening • 80% are Genetic • Many Impact Specific Age Groups (e.g., children or over 40’s) • Diagnosis Often Takes Years with Patients Shuffled from One Specialist to Another • Treatments are Uncertain and Not Always Available • Costs Can Be Very High • Support Structure May be Non-Existent Data Obtained From the National Organization of Rare Diseases (NORD)

4. How Does the Patient Feel? • Totally Alone in a Nightmare • Abandoned by the Medical Profession • An Exercise in Patience • "I just want to know what is wrong with me so I can fight it" - 48 year old, 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 anemiaNewsweek, April, 2008

5. How Does the Caregiver Feel? • Scared, Lonely, Exhausted, Forgotten • On Duty 24 hours / 365 days a year • Focused Solely on Patient; Nowhere Else You Would Rather Be • 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

6. What Must It Be Like for a Doctor? • Frustrating • Time Consuming • Humbling • They are Trained to Help People, Not Certain What to Do When They Can’t

7. What is 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

8. ECD is an Extremely Rare Disease • Total of 250 Published Cases in World, Ever • Never Even Heard of by Most Doctors • Diagnosis is Difficult and Time Consuming, Made Only by Chance in Some Cases • More Like “Homeless Orphan” Disease

9. What is the Status of ECD? • VERY Few 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; There are people who have been diagnosed for 22, 18, and 13 years

10. One Person’s Failed Attempt at a Diagnosis • Local Doctors • Regional Doctors • Well Respected Diagnostic Clinic • Transplant and Diagnostic Work Up at Major Teaching Hospital • Diagnostic Work Up at Major Cancer Hospital • Diagnostic Work Up at 3rd Major Teaching Hospital • Records Reviewed Extensively at 4 additional Major Teaching Hospitals • Complete Medical Records Sent to Over 60 Research Physicians

11. What One Patient Endured * Until mid 2007

12. Is There Hope? • Yes, But Much Needs to be Done • Successful Treatments are Being Developed • More Support Organizations Available • NORD – National Organization for Rare Disorderswww.rarediseases.org • Internet Allows Patients to Find Each Other and Share Information • New Legislation in Place to Help with Research Funding and Approvals

13. A Little History Total of 10 Treatments Developed for ALL Rare Diseases 1800 Products Entered Pipeline; 320 Approved 1973 1983 1990 2002 2008 Safe Medical Devices Act NIH Undiagnosed Disease Program Orphan Drug Act Giving Drug Manufacturers Incentives Rare Disease Act Enabling NIH Office of Rare Diseases (ORD) Data Obtained From the National Organization of Rare Diseases (NORD)

14. What is the Status of ECD Support? • Histiocytosis Association of America (HAA) provides some support • New Online Support Group of Patients and Caregivers Has Informally Formed as of April ‘08 • Meet Regularly Via Chat Rooms • 16 Patients - 16 Too Many • 5 Countries, 4 Continents Represented • Providing Mutual Support, Raising Awareness and Promoting Research • Searching for Any Pockets of Current Research

15. What I Learned • YOU are Responsible • Doctors Should be on YOUR Team • Get Answers That Make Sense, OR Go Somewhere Else • Medicine is an Art, It Only WANTS to be a Science • There are Some Amazing People in the Medical Field • Don’t EVER Underestimate the Value of Faith, Family, and Friends

16. What Advice Would I Give Another? • KEEP RECORDS • KEEP RECORDS UP-TO-DATE • Communicate • Be Persistent • Work with Insurance Folks to Ensure You Only Make Payments You are Responsible For • Ask for What You Need and Expect It

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

18. Questions? • ALL input, suggestions, ideas, etc. are appreciated