Work Groups

Transition Products

• Transition Toolkit

  This toolkit was developed to help teenagers and young adults prepare for transitioning to the adult health care system.

  The links below go to the New England Consortium of Metabolic Programs website at Children's Hospital Boston, where the toolkit was developed with Innovative Project award funding from the NEGC.

  • Instructions for using the Toolkit 
  • Health Readiness Assessment
    • Are you ready to handle your own health care as an independent adult?
  • Medical Health Summary
    • Use this form to save important information about your health.
  • Transition Plan
    • Fill this out with your health care provider, to help you transition to being in control of your own health.
  • Metabolic Condition Basics for PKU, Galactosemia; Biotinidase Deficiency, Homocystinuria, and Ornithine Transcarbamylase (OTC) Deficiency
    • Learn some of the basics about your metabolic condition.
    • In our work at the NEGC we learned that pediatricians also found these helpful!  

• Galactosemia: Educators' Resources

  These resources, developed at Children's Boston, are  for teachers working with students who have galactosemia:

  •  Understanding Galactosemia
    • an introductory guide for educators, featuring a basic description of galactosemia, suggested teaching strategies, classroom managment ideas, and additional resources
  •  Galactosemia - Resources for Educators
    • a detailed guide for educators with in-depth information about galactosemia, about special challenges for students with the condition, and featuring information about therapies, classroom environment, lesson planning, teaching technologies, and other resources

• Moving Forward: Your Guide to Galactosemia and POI

  link  This comprehensive five-part guide, produced at Children’s Hospital Boston, contains sections for teens and women who have galactosemia and POI, and for their family members. The guide explains the symptoms and underlying causes in easy-to-understand terms, and outlines ways of getting the care and support you need. It also provides a list of resources, and a glossary of medical terms.

• A Guide for Prenatal Educators

  link  This eleven-page booklet developed at Children's Boston contains information and resources based on recommendations by the American Academy of Pediatrics.  Included information and resources for parents, as well as information about each metabolic disorder including incidence rate, a brief definition, and recommmended treatment options.

• PKU Toolkit

  link  This toolkit developed at Children's Boston is designed to be a personal guide for teens and young adults with PKU, including comprehensive information about nutrition, diet, treatment, and lifestyle issues. It provides information, resources, checklists, and quizzes to help you better manage your PKU. Also included is information about new, more convenient and tasty options in PKU formula and low-protein foods. Reading this toolkit can also be useful for family, friends and significant others of adults with PKU.

• Transition Efforts in New England

  link This summary of the efforts to promote Transition in each of the New England states is a work-in-progress. Please let us know of any undates. (2010)

• Teen Challenge! Summary Reports

  • 2010 Teen Challenge
  • 2009 Teen Challenge

Transition Publications

• Psychosocial issues and outcomes in maternal PKU

   link Susan Waisbren, Richard Koch, Friedrich Trefz
  Molecular Genetics and Metabolism, 2010, Volume 99, Supplement 1; Pages S68-S74
  

• Final commentary: A new chapter

  link D.A. White, S. Waisbren, F.J. van Spronsen
  Molecular Genetics and Metabolism, Volume 99, Supplement 1, 2010, Pages S106-S107
  
  

• Psychiatric symptoms and disorders in phenylketonuria

  link V.L. Brumm, D. Bilder, S.E. Waisbren
  Molecular Genetics and Metabolism, Volume 99, Supplement 1, 2010, Pages S59-S63
  

• Screening for cognitive and social–emotional problems in individuals with PKU: Tools for use in the metabolic clinic

  link S. Waisbren, D.A. White
  Molecular Genetics and Metabolism, Volume 99, Supplement 1, 2010, Pages S96-S99