Somewhere to Go for Adults with Childhood-Onset Rare Diseases: A Conversation About How We Can Fill Gaps in Care
October 19-20, 2023

Patients diagnosed with and treated for a rare disease during childhood frequently live well into adulthood thanks to welcome advancements and innovations in care and treatment. However, it is recognized that these adults often fall into a chasm in the healthcare ecosystem, referred to as the “transition care cliff,” at the point of transitioning from the pediatric care they had been receiving to adult care for their chronic, rare condition. They face numerous challenges and barriers to accessing the right care as young adults entering a system unprepared to meet their complex needs, which continue across their lifespan. Recommendations on how to improve the transition and access to care as an adult have been recently proposed.

The overall goal of this meeting is to improve care and reduce barriers for adults with childhood-onset rare diseases across their adult lifespan.   

On October 19-20, 2023 rare disease patient advocates, clinicians and other stakeholders will meet to discuss how the rare disease community can turn recommendations into actions for impactful change around the issue of improving care and access to care for adults with childhood onset rare diseases. In addition, meeting participants will discuss actions the rare disease community can take and what strategies the rare disease community can rally behind that will have the greatest impact.

We invite those interested in this important issue to join us virtually for this meeting! The meeting agenda is below.

Please join us virtually for this meeting! Click here to register to attend.

AGENDA

October 19, 2023
9:00 – 9:15 am ET Welcome and Introductions
Tracy Hart, CEO, Osteogenesis Imperfecta Foundation; Laura Tosi, MD, Director, Bone Health Program, Children’s National; Eleanor Perfetto, PhD, Professor of Practice, Sciences, and Health Outcomes Research, University of Maryland

9:15 – 9:30 am ET Voice of the Community
Kara Ayers, PhD, Associate Director, University of Cincinnati, Center for Excellence in Developmental Disabilities

9:30 – 10:00 am ET Keynote Speaker: Back to the Future: Supporting a Lifetime of Happiness, not Just a Happy Childhood
Annie Kennedy, Chief of Policy, Advocacy, and Patient Engagement, EveryLife Foundation for Rare Diseases

10:00 – 10:45 am ET Session 1: Envisioning the 21st Century: Centers of Excellence for People with Rare Disease – What Does That Look Like and How Do We Get There?

• Experiencing No Place to Go
  TjaMeika Davenport, Parent Navigator at Goldberg Center for Community Pediatric Health, Children’s National
• Centers of Excellence – Will They Work for Our Community?
  Deborah Fowler, Founder and President, SoftBones
• Center Certification: Parent Project Muscular Dystrophy
  Mena Scavina, DO, Nemours, PPMD
• Rare Disease – Transition Model
  Kim Chapman, MD, PhD, Director of the Mitochondrial Disorders Clinic, Children’s National

10:45 – 11:30 am ET Session 1: Group Discussion

11:30 – 12:45 pm ET Lunch

I Am Not the Doctor for You
Lisa Iezzoni, MD, Professor of Medicine, Harvard Medical School
Kara Ayers, PhD, Associate Director, University of Cincinnati, Center for Excellence in Developmental Disabilities

12:45 – 1:30pm ET Session 2: Evidence for Decision Making: Leveraging Patient Data and the Patient Experience

• It’s Only Natural Getting the Most Out of Natural History Studies in Trial Design and Regulatory Approval
  Christopher “Buddy” Cassidy, MA, PhD Candidate in English Literature, UC Irvine
• Patient Role in Ensuring Reliable and Relevant Data for Use in Research that Drives Patient Care
  Eileen King, PhD, Professor, UC Department of Pediatrics, Cincinnati Children’s
• Patient Focused Medical Product Development
  Eleanor Perfetto, PhD, Professor of Practice, Sciences, and Health Outcomes Research, University of Maryland
• The Power & Potential of Data Collaborations
  Annie Kennedy, Chief of Policy, Advocacy, and Patient Engagement, EveryLife Foundation for Rare Diseases

1:30 – 2:15pm ET Session 2: Group Discussion

2:15 – 2:30pm ET Break

2:30 – 3:15pm ET Session 3: Innovation in Care Coordination for People with Rare Diseases and Complex Needs

• The Importance of Care Coordination – A Patient’s Perspective
  Kyle Mulroy, Founder, Washington Strategic Consulting
• Bridging the Gap with Virtual Nursing
  Jenna Morgenstern-Gaines, CEO, Pocket RN
• Managed Care for Adults with IDD: Panacea or Predicament?
  David Ervin, CEO, Makom
• The AlphaNet Model for Patient Engagement
  Sandy Sandhaus, MD, PhD, Professor, Department of Medicine, Division of Pulmonary, Critical Care & Sleep Medicine, National Jewish Health

3:15 – 4:00pm ET Session 3: Group Discussion

4:00 – 4:45pm ET Session 4: Coalitions, Collaboratives and Working Together

• Stronger Together
  Courtney Felle, Young Adult Rare Representatives (YARR) Program Manager, EveryLife Foundation for Rare Diseases
• The Right Healthcare Workforce for Adult Complex Care
  Debra Regier, MD, Division Chief, Genetics and Metabolism
  Program Director, Medical Genetics Residency Program, Children’s National
• Creating Partnerships for Effective Collaborations
  Julie Hocker, Director, Public Health, Guidehouse and Former US Commissioner on Disabilities
• NPPACT and the Importance of Coalition Work
  Sara Struwe, CEO, Spina Bifida Association Diana Gray, President and CEO, Hydrocephalus Association

4:45 – 5:30pm ET Session 4: Discussion

5:30 – 6:00pm ET Summary of the day and plan for Day 2
Open comments/Discussion

5:30pm ET Adjourn

October 20, 2023

8:30 – 9:30am ET Welcome and Recap of Day 1
Laura Tosi, MD, Director, Bone Health Program, Children’s National

• What Can the Maternal Child Health Bureau (MCHB) Do to Support Transition to Adult Systems of Care?
  Jeffrey P. Brosco, MD, PhD, Director, Division of Services for Children with Special Health Needs, MCHB, Health Resources & Services Administration (HRSA)
• National Recommendations for Strengthening the Adult Primary Care Workforce for Young Adults with Medical Complexity
  Margaret McManus, MHS, President of The National Alliance to Advance Adolescent Health

9:30 – 10:15am ET Where We Landed: Review and Open Discussion
Eleanor Perfetto, PhD, Professor of Practice, Sciences, and Health Outcomes Research, University of Maryland

10:15 – 10:45am ET Priorities from Meeting

10:45 – 11:30am ET Group Working Session

11:30 – 11:45am ET Next Steps: Follow Up and Follow Through – Laura Tosi, MD, Director, Bone Health Program, Children’s National

12:00 noon ADJOURN

We would like to thank the Orthopedic Research Society for sponsoring this meeting