Rare Disease Studies and Surveys:
1. National Organization of Rare Diseases State Progress Report:
2. SHIRE 2014 Rare Disease Impact Report:
3. "Rare Diseases and Orphan Projects: Accelerating Development"
Reference: Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development Editors: Marilyn J Field and Thomas F Boat.Washington (DC): National Academies Press (US); 2010. Copyright © 2010, National Academy of Sciences.
Undiagnosed Conditions:
1. "Learning About an Undiagnosed Condition in an Adult" National Human Genome Research Institute at the NIH. December, 2013.
2. "Learning About an Undiagnosed Condition in a Child" National Human Genome Research Institute at the NIH. December, 2013. Link:
Patient and Family-Centered Care:
1."Caring for Children Who Have Special Health Care Needs: A Practical Guide for the Primary Care Practitioner"
Reference: Sadof, Matthew D., and Nazarian, Beverly L. “Caring for Children Who Have Special Health-care Needs: A Practical Guide for the Primary Care Practitioner” Pediatrics in Review 2007;28;e36 DOI: 10.1542/pir.28-7-e36
2. “A Systems Approach to Patient-Centered Care”
Reference: Bergeson, Steven, Dean, John D. “A Systems Approach to Patient-Centered Care” JAMA, December 20, 2006—Vol 296, No. 23
3. "Preparing for Emergencies: Sweat the Small Stuff, Lead the Way to Empowerment"; by Julie Gortze, RN
Dealing with Accusations of Medical Child Abuse/Munchhausen's Syndrome by Proxy, and Conversion Disorders:
1."Problems with diagnosing Conversion Disorder in response to variable and unusual symptoms."
Reference: Barnum, R. “Problems with diagnosing Conversion Disorder in response to variable and unusual symptoms” Adolescent Health, Medicine and Therapeutics 2014:5 67–71.
2."Rare Disease Caretaker Vs. Munchausen Syndrome By Proxy/Medical Child Abuse Perpetrator: A Comparison of Psychological Profiles"
Reference: Gortze, Julie “Rare Disease Caretaker Vs. Munchausen Syndrome By Proxy/Medical Child Abuse Perpetrator: A Comparison of Psychological Profiles” Published by MitoAction (www.mitoaction.org), March 12, 2015. http://www.mitoaction.org/advocacy
Click on the above link to see a video presentation by bioethicist Jessica Shriver,MATh, MSBe and Family Law attorney Jim Ianiri, JD on medical decision-making and patient/ family rights for pediatrics and adult medicine. This presentation was made at a Mito New England meeting in April, 2014, and was sponsored by the national non-profit MitoAction (www.Mitoaction.org).