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Orphan Diseases by m660v7bn

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									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?
•   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
    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        1800+ Products Entered
     ALL Rare           Pipeline; 350 Approved
     Diseases



1973           1983         1990          2002        2008 2010


        Orphan Drug           Safe     Rare Disease     NIH
         Act Giving         Medical    Act Enabling Undiagnosed
            Drug           Devices Act NIH Office of
                                                      Disease
        Manufacturers                      Rare       Program
         Incentives                     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 Pathologists-
  Chester(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
                        Teleconference                                Dr. Vaglio’s                  Medical              RFP for
Carol, Kathy,              with ECD            Dr. Haroche’s           Treatment                    Advisory            Research
RuthAnn Met             Patients and Dr.         HLA Study              Protocol                     Board               Project
 by Phone                  Kurzrock            Communicated          Communicated                   Formed            Communicated


                                                                                                               Mar. ‘10
                                                                Jan. ‘09               Aug. ‘09
             Apr. ‘08                  Oct. ‘08



  Jan. ‘08                 Sep. ‘08                Oct. ‘08                Apr. ‘09                 Dec. ‘09              Apr. ‘10


               First                 Published                   First                 501(c)(3)                501(c)(3)
              Online           www.erdheim-chester.org         Newsletter              Non-Profit              Tax Exempt
               Chat                   website                  Published              Paperwork                   Status
             Session                                                                  Submitted &               Granted,
               Held                                                                     Board of               Effective as
                                                                                       Directors               of Aug. 28,
                                                                                        Formed                    2009




       Organizational Activity             Support Activity    Bringing Information to Patients        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,                                Treating
Friends, &                              Doctors
   Faith

                          You
                    Responsible for:
                    •Communicating
                  •Up-to-Date Records
                •Keeping Team Focused


Advocacy
                                        Researchers
 Groups
      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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