1. TRANSITION WORK GROUP The Transition Stage of Transition
APRIL 7, 2016
2:00 – 4:00 PM

2. GOALS FOR TODAY
Review where the “field” is in New England and Nationally
Address issues that members of the Work Group identify as important
Develop some “action items” for the coming year
Ensure it gets better from here!

3. AGENDA
2:00 – 2:20 Welcome & introduction 2:20– 2:40 Clinical trials and research opportunities 2:40 – 3:25 Updates 3:25 – 3:35 New Related Activities 3:35 – 4:00 Ensuring it gets better from here: Action Items and evaluation -- Karen Smith & Peter Antal, PhD 4:00 pm Adjourn

4. The Transition Stage of Transition
1. Individuals did not live into adulthood or remained at home or in community residences
2. Efforts to transfer care to adult providers
3. Efforts within the medical homes
4. Efforts to educate patients
5. These efforts did not achieve hoped for improvements in access and health status

5. The field is now in transition.
1. Transition Work Group dropped from ACMG Focus is now on “the whole person” –other health issues 2. Perhaps new goal of Identity achievement 3. Perhaps new goal of Quality of life 4. Need broad measure of health outcomes 5. Re-engagement with the health system

6. Begin with Re-engagement
Clinical Trials and Research Opportunities for individuals with metabolic and genetic disorders—Important connections for emerging adults.
Olaf Bodamer, MD – Associate Chief for Genetics and Genomics at Boston Children’s Hospital

7. INTRODUCTIONS
What quality of life issue for youth and young adults with genetic/metabolic conditions would you like to see addressed?
What do you want to get out of today?

8. UPDATES: 2:40-3:25 1. Adult health survey-Farrah Rajibi, MD
2. Transition Clinic Policy-Susan Waisbren, PhD
3. FaceForward “Campference”
Kepler Jeudy, MS, & Quita Christison
4. Transition: NCC Care Coordination Group and Regional Support Services Work Group
Megan Lyon, MPH

9. New Activities 3:25-3:35
Inborn Errors of Metabolism Collaborative (IBEMC) Follow-up of Newborn Screening
Homocystinuria support group

10. IBEMC
The IBEM-IS has passed the 1,900 participant mark! As of January 11, 2016, 1,941 participants representing 41 conditions have data entered into the IBEM-IS.
We now have IRB approval to enter cases from New England, but no funding yet.
Awaiting funding to become a site and to incorporate psychological outcome data.

11. Homocystinuria Support Group
Adults, ages 20 and older, with a metabolic condition
(Homocystinuria, PKU, Galactosemia, UCD’s, FAOD’s, and others)
Please join us for an informative and diet friendly meal with supportive company.
It’s free!
Thank you New England Connection for PKU and Allied disorders for support!

12. It gets better from here! 3:35-4:00
Addressing what Work Group Members wanted to get out of the meeting today.
Evaluation
Action Items
Moderated by Karen Smith and Peter Antal

13. GOOD-BYE AND THANKS!