Orphan Diseases
&
One Patient’s Fight Against
Erdheim-Chester Disease
Definition of Orphan Disease
• A disease which has not been "adopted"
by the pharmaceutical industry because it
provides little financial incentive for the
private sector to make and market new
medications to treat or prevent it.
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
• No Disease is Rare When it Strikes Someone You Love
Data Obtained From the National Organization of Rare Diseases (NORD)
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)
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 anemia
Newsweek, April, 2008
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
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
Is There Hope?
• Yes, But Much Needs to be Done
• Successful Treatments are Being Developed
• More Support Organizations Available
• NORD – National Organization for Rare Disorders
www.rarediseases.org
• Internet Allows Patients to Find Each Other and Share
Information
• 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; 320 Approved
1990
Safe
Medical
Devices Act
2002
2008
NIH
Rare Disease
Act Enabling Undiagnosed
Disease
NIH Office of
Program
Rare
Diseases
(ORD)
Data Obtained From the National Organization of Rare Diseases (NORD)
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
What One Patient Endured
Procedure
Dialysis Sessions
Invasive Procedures
(sedated/non-sedated)
Scans
Days in Hospital
Prescription Meds (regular)
Infections
Times Asked Why Me?
2004
93
11/1
2005
0
7/2
2006
0
8/0
2007*
13
8/0
10
26
6
3
0
27
51
11
?
0
24
112
16
13
0
19
85
16
13
0
*
Until mid 2007
Erdheim-Chester Disease Diagnosed at Autopsy
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
ECD is an Extremely Rare
Disease
• As of May 2006, Only 240 Cases of ECD had
been Reported in the Medical Literature Since
1930 When it Was First Described *
• 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
* Julien Haroche, et.al.; Variability in the efficacy of interferon- in Erdheim-Chester disease by patient and site of
involvement: Results in eight patients; Arthritis Rheum. 2006 Oct;54(10):3330-6.
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
What is the Status of ECD
Support?
• ECD Global Alliance
– www.erdheim-chester.org
– support@erdhheim-chester.org
• Support Group of Patients and Caregivers
Meet Regularly Via Chat Rooms
• 57 Cases Registered, Representing 7
Countries
• Promoting Research
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
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
What Can We All Do?
• Be an Advocate
• Be Supportive
• Be Generous
• Be an Organ Donor
Questions?
• ALL input, suggestions, ideas, etc. are
appreciated