Articles & Publications

Helpful Articles and Publications

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Rare Disease Studies and Surveys:

1. National Organization of Rare Diseases State Progress Report:

Link: 2015 State Report

2. SHIRE 2014 Rare Disease Impact Report:

Link: 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.

To read this book online, click here.

Undiagnosed Conditions:

1. "Learning About an Undiagnosed Condition in an Adult" National Human Genome Research Institute at the NIH. December, 2013.

Link: https://www.genome.gov/17515946/learning-about-an-undiagnosed-condition-in-an-adult/

2. "Learning About an Undiagnosed Condition in a Child" National Human Genome Research Institute at the NIH. December, 2013. Link:

Link: https://www.genome.gov/17515951/learning-about-an-undiagnosed-condition-in-a-child/

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

To read this article click here.

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

To read this article click here.

3. "Preparing for Emergencies: Sweat the Small Stuff, Lead the Way to Empowerment"; by Julie Gortze, RN

To read this article click here.

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.

 To read this article click here.

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

To read this article click here.

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).