Transcript Orphan Diseases - Erdheim

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?
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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
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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
ALL Rare
Diseases
1973
1983
Orphan Drug
Act Giving
Drug
Manufacturers
Incentives
1800+ Products Entered
Pipeline; 350 Approved
1990
2002
2008 2010
Safe
Rare Disease
NIH
Medical
Act Enabling Undiagnosed
Devices Act NIH Office of
Disease
Rare
Program
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 PathologistsChester(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
Carol, Kathy,
RuthAnn Met
by Phone
Teleconference
with ECD
Patients and Dr.
Kurzrock
Apr. ‘08
Jan. ‘08
Jan. ‘09
Oct. ‘08
Sep. ‘08
First
Online
Chat
Session
Held
Dr. Haroche’s
HLA Study
Communicated
Oct. ‘08
Published
www.erdheim-chester.org
website
Organizational Activity
Dr. Vaglio’s
Treatment
Protocol
Communicated
Support Activity
Medical
Advisory
Board
Formed
Mar. ‘10
Aug. ‘09
Apr. ‘09
First
Newsletter
Published
Dec. ‘09
501(c)(3)
Non-Profit
Paperwork
Submitted &
Board of
Directors
Formed
Bringing Information to Patients
RFP for
Research
Project
Communicated
Apr. ‘10
501(c)(3)
Tax Exempt
Status
Granted,
Effective as
of Aug. 28,
2009
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,
Friends, &
Faith
Treating
Doctors
You
Responsible for:
•Communicating
•Up-to-Date Records
•Keeping Team Focused
Advocacy
Groups
Researchers
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
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Questions?
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