Orphan Diseases - Erdheim

Report
Erdheim-Chester
Disease
ECD Global Alliance
October 2010
What is
Erdheim-Chester Disease?

Non-Langerhans Cell Histiocytosis


Causes Scar-Like Tissue to Surround the Organs &
Arteries



Too Many Histiocytes (cells which normally fight infections) Infiltrate
Organs
Bone, Brain, Kidney, Eyes, Lungs, Abdominal Tissue/Organs,
Cardiovascular, Skin and More Rarely Others
Symptoms Vary Between Patients Depending on
Which Organs are Involved
Without Successful Treatment: Organ Failure
Why Have I Never
Heard of ECD?

First Described in 1930 by an Austrian (Dr. Erdheim)
and an American (Dr. Chester) Pathologist

Only About 350 Published Cases in the World

Never Heard of by Most Doctors


Diagnosis is Difficult and Time Consuming, Made Only
by Chance in Some Cases
Not Known if Cancer, Auto-Immune,
Genetic, etc.
What is the Status of ECD?

Only a Handful of 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,
However We See Some Patients Live for Decades

International Disease Advocacy Group Formed –
ECD Global Alliance – www.erdheim-chester.org
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

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
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
What is Needed?

Raise Additional Research Funds

Continue Dialogue with Research Physicians

Create and Maintain Patient Registry

Future ECD Symposium

Support for Patients with Regard
to Disability and Other Related
Issues
What Can We All Do?

Be Supportive

Be an Advocate

Be an Organ Donor

Be Generous
?
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?
Questions?
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