Orphan Diseases

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Orphan Diseases One Patients Fight Against
Erdheim-Chester Disease
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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)

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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 40s)
• 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)

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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 cancerWhen 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 anemiaNewsweek, April, 2008

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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

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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 Cant

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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

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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

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What Does ECD Look Like?
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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

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One Persons 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

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What One Patient Endured
Until mid 2007
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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

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A Little History
Total of 10 Treatments Developed for ALL Rare
Diseases
1800 Products Entered Pipeline 320 Approved
1990
2002
2008
1973
1983
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)
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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

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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
• Dont EVER Underestimate the Value of Faith,
  Family, and Friends

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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

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What Can We All Do?

• Be an Advocate
• Be Supportive
• Be Generous
• Be an Organ Donor

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Questions?

• ALL input, suggestions, ideas, etc. are
  appreciated