ABOUT THE PROJECT

Problem
Mission Statement
Goals
Objectives
Clinic Staff
Read about the project in the CHDD Outlook

Problem

For persons with serious inherited metabolic disorders there is presently no coordinated, client focused program for continued support and effective treatment as the transition is made from pediatric to adult care. There is one successful example: cognitively normal young adults with phenylketonuria are beginning to be successfully transitioned to adult care. However, there are other groups of individuals with more difficult metabolic problems and for whom fewer services are available.

Significant medical concerns have been identified for young adults ready for transition. These include:

1. the need for complex nutritional therapy
2. required ingestion of special metabolic formulae
3. complex schedule of medication intake
4. compromised intellectual and physical capabilities
5. the need for life-long treatment
6. reproductive concerns
7. changing medical needs with age

Other, non-medical problems such as the need for an organized supported living situation also exist.

Mission Statement

To provide information and assistance to young adults with metabolic disorders transitioning to adult care. To provide knowledge and assistance to their health care providers.

Goals

An innovative and comprehensive approach will be developed to enable young adults with metabolic disorders to transition to adult based care. The general goals of the project will be to: 1) provide skills to young adults with inherited metabolic disorders that will enable self care and self advocacy and 2) provide knowledge and skills to health care providers for the effective health care of these persons.

Objectives

1. To conduct a needs assessment to gain an understanding of the personal, medical, emotional, and cognitive status of young adults with inherited metabolic disorders
2. To identify barriers to care that exist between these young adults and adult-based care systems and to develop a strategy to remove these barriers
3. To develop strategies to empower young adults to have a significant role in their own care and to prepare them for independence
4. To train primary health care providers to do appropriate adult care for these individuals
5. To aid parent efforts in facilitating independent adult living
6. To develop evaluation and educational materials to be used by clients, families, and providers to facilitate the transition.

Clinic Staff

C. Ronald Scott, MD
Cristine Trahms, MS, RD
Sue McDonald, Parent
Michael Raff, MD
Robin Bennett, MS, CGC