MUCH HAS HAPPENED SINCE WE OUR STARTUP. THE OUTLOOK OF DOOM AND GLOOM HAS CHANGED TO HOPE FOR THE FUTURE.
• Established the first accurate Internet information, including prenatal, diagnosis aids, bereavement support and resources.
• Established a patient registry to generate merit research including DNA (our gene was not yet discovered) that held Institutional Review Board to protect patient’s rights and welfare.
• Presented the ARPKD/CHF database at the National Institutes of Health PKD Strategic Planning Meeting.
• Requested ARPKD/CHF be added to the ADPKD CRISP studies.
• Held first social gathering of ARPKD/CHF families at Spring Gulch Camp Resort in P.A.
• Generated the largest research study in the world specific for our children, “Clinical Investigations into Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis,” at the National Institutes of Health in Bethesda, Maryland, the largest funding agency in the world. This is the first time our disease is comprehensively and prospectively evaluated and researched.
• Recruited for clinical research specific to ARPKD/CHF.
• Petitioned for Congenital Hepatic Fibrosis to be added to NIH’s “Liver Action Plan,” determining future research direction (all goals eventually met).
• Co-sponsored the first ever ARPKD/CHF Medical Workshop; researchers discuss disease specifics, resulting in: “liver disease is significant in ARPKD.”
• Governing board recommends a vigorous research approach to CHF and funds a $50,000 research grant for Congenital Hepatic Fibrosis utilizing NIH gold standards.
• Created and developed Access to Care Documents and Clinical Care Considerations, guidelines for informed individualized decision making.
• Developed the Professional Educational Project (PEP) to eliminate antiquated and obsolete information by specialists that often leave families with little or no hope.
• Developed Regional Support.
• Created an extensive new website, a go to place for information, help, and resources.
• Held the first family conference specific to the disease.
• Established FirstGiving for online fundraising and outreach.
• Fibroblast cell responsible for CHF is identified by research we supported.
• Eight papers are published resulting from our Natural History Study further describing ARPKD and CHF. Data determines for the first time: kidney size does not correlate to function or determine function (this is opposite from ADPKD determined by ADPKD CRISP studies).
• Supported professional PKD meeting hosted by Federation of American Societies for Experimental Biology (FASEB).
• Partnered with National Disease Research Interchange (NDRI) to assist in the research process and better understanding.
• Held Midwest Family Gathering Family Fun Day in Kenosha, Wisconsin.
• We committed over 1,700 volunteer working hours to improve patient outcomes.
• Created the ARPKD/CHF Alliance Patient Registry which is part of the Global Rare Diseases Patient Registry and Data Repository (GRDR) by the Office of Rare Diseases Research (ORDR). The ORDR is within the National Institutes of Health (NIH), one of the world’s foremost medical research centers in the world.
• Suggest policy changes to United Network for Organ Sharing (UNOS) to improve CHF organ allocation and scoring.
• Generated interest for the Consensus Medical Management meeting for ARPKD/CHF.
• Represented ARPKD/CHF at the Drug Information Association’s 50th Annual meeting; this is one of the largest pharmaceutical meetings in the world.
• Participation in the NIH/NCATS Global Rare Diseases Patient Registry Data Repository.
• Generated ARPKD/CHF Quality of Life research for the first time.
• Coordinated 2015 Advocacy Training to cultivate future patient advocates and leaders.
WE ALSO CREATED A RESEARCH GRANT PROGRAM, THE PROFESSIONAL EDUCATIONAL PROJECT, A YOUTH AMBASSADOR PROJECT AND REPRESENT ARPKD/CHF AT PROFESSIONAL MEETINGS AND SUPPORT LEGISLATION THAT BENEFITS THE PATIENT POPULATION; SOME OF THESE INCLUDE:
• Faster Access to Specialized Treatments (FAST) Act.
• Comprehensive Immunosuppressive Drug Coverage for Kidney Transplant Patients Act of 2011.
• Cures Acceleration Network (CAN).
• Therapeutics for Rare and Neglected Diseases (TRND) program.
• Alliance for TaxPayer Access (access to articles on research funded by the U.S. Government).
• Cure The Process (improves regulatory process for rare disease treatments).
• Orphan Drug Development.
PROFESSIONAL EVENTS PARTICIPATION:
FDA and Rare Disease Patient Advocacy Day, NIH meetings, conferences by the Genetic Alliance, National Organization of Rare Disease, Drug Information Association, Conference on Clinical Research for Rare Disease, NYMAC Summit, and others crucial gatherings.