The Challenging Journey to Diagnosis: A Personal Experience Panel
This activity consists of a recorded presentation from the "31st Annual National Clinical Conference" held in Bloomington, Minn., Oct. 17-19, 2022.
This presentation exams the challenges surrounding rare-disease diagnosis and treatment, delving further into the significant impact of the diagnostic odyssey on adults, children, and their families as they seek care for their rare conditions. A panel of individuals speak about the challenges of their own rare-disease odysseys and provide insight into the pronounced effects their prolonged and necessary diagnostic pursuits have had on their personal lives, finances, and physical and mental health.
This activity is provided by Optum Health Education.
There was no commercial support for this activity.
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This activity is designed to meet the educational needs of case managers, nurses, pharmacists, pharmacy technicians, physicians, psychologists, social workers, dietitians, and other health care professionals who are interested in rare-disease diagnosis and treatment.
At the end of this educational activity, participants should be able to:
- Describe the significant mental, physical, and financial challenges often faced by individuals with rare, undiagnosed, or misdiagnosed conditions, as related by people with personal experiences in this area.
- Discuss the takeaways for improving the diagnostic and treatment journey for individuals with undiagnosed conditions from a medical and health care perspective, based on the personal experiences shared by the panel.
- Recognize potential ways in which to improve the evaluative process for undiagnosed disorders affecting individuals for prolonged time periods.
- Identify ways to advocate for increasingly focused testing through examination of the experiences of affected individuals.
Susana Castro-Alcaraz, MD, FAAP
Senior Medical Director, Women’s Health
Optum Health Solutions
President and CEO
Parent Project Muscular Dystrophy
Father of a child with a rare genetic disorder
Founder, UnitedHealth Group Special Needs Initiative
Former Vice President, Marketing and Innovation
Matthew Might, PhD
Professor of Internal Medicine and Computer Science
Hugh Kaul Endowed Chair in Personalized Medicine
Director, Hugh Kaul Precision Medicine Institute
University of Alabama at Birmingham
About the presenters
Pat Furlong is the founding president and chief executive officer of Parent Project Muscular Dystrophy (PPMD), the largest nonprofit organization in the United States focused on Duchenne muscular dystrophy. After her two sons were diagnosed with Duchenne, Ms. Furlong joined other parents to found PPMD in 1994. The mission of PPMD is to END Duchenne. PPMD invests in research and has leveraged >$500 M, advancing every possible opportunity to accelerate therapy development. PPMD is focused on three major goals: impact, influence and change policy.
Since 2000, PPMD has influenced policy — Children’s Health Act, MD CARE Act, Congressionally Directed Medical Research Program (CDMRP), Written Guidance for FDA in 2016 and currently developing draft Guidance to include gene therapy. With the goal of ensuring every single person diagnosed with Duchenne or Becker have access to optimal care, opportunities to participate in clinical trials and access to therapy.
Ms. Furlong has served on the boards of the Genetic Alliance and the National Organization for Rare Disorders, the National Institutes of Health’s Muscular Dystrophy Coordinating Committee, the Institute of Medicine’s Committee on Pediatric Studies Conducted Under BPCA and PREA, and the U.S. Food and Drug Administration’s Molecular and Clinical Genetics Panel. For her leadership in changing the course of Duchenne, Ms. Furlong was named among the top 50 orphan drug thought leaders by the World Orphan Drug Congress in 2014. She received the 2012 Global Genes|RARE Champion of Hope Advocacy Award and the 2008 Research America Advocacy Award. She serves on the board of the ARM foundation and on the Advisory Board of Orphan Disease Center, U. Penn.
Thomas Kelly is a father of a child with a rare genetic disorder. He is also founder of the UnitedHealth Group Special Needs Initiative and former vice president of marketing and innovation at UnitedHealth Group.
Matthew Might, PhD, has been the director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham (UAB) since 2017. At UAB, Dr. Might is the Hugh Kaul endowed chair of personalized medicine, a professor of internal medicine and a professor of computer science. From 2016 to 2018, Dr. Might was a strategist in the Executive Office of the President in The White House. In 2015, Dr. Might joined the faculty of the department of biomedical informatics at the Harvard Medical School, first as visiting professor and since 2017 as senior lecturer. Dr. Might was co-founder and chief scientific officer of NGLY1.org, and he was a co-founder and scientific advisor to Pairnomix. Q State Biosciences acquired Pairnomix in October 2018. Dr. Might remains a scientific advisor and board member.
Elizabeth Albert, MD
Clinical Activity Manager
Optum Health Education
Eden Prairie, MN
Rebecca Gleason, RN, CCM
Optum Health Education
Eden Prairie, MN
Jennifer Malin, MD, PhD
Senior Vice President and Chief Medical Officer
Optum Health Solutions
Eden Prairie, MN
Tina Rydland, PharmD
Disclosures of relevant financial relationships
In accordance with the Accreditation Council for Continuing Medical Education's (ACCME) Standards for Integrity and Independence in Accredited Continuing Education, OptumHealth Education (OHE) requires all those in control of educational content to disclose their financial relationships with ineligible companies within the prior 24 months. Ineligible companies are defined by the ACCME as companies whose primary business is producing, marketing, selling, re-selling, or distributing health care products used by or on patients. Individuals must disclose all financial relationships, regardless of the amount, with ineligible companies and regardless of their view of the relevance of the relationship to the education. OHE ensures that the content is independent of commercial bias.
Dr. Matthew Might has indicated that he is a consultant for RareBase PBC; is on the advisory board for Actio Software, Praxis and Q-State; and has ownership interest in Actio Software, Q-State and RareBase PBC.
Pat Furlong, Thomas Kelly and the activity planners have no financial relationships to disclose.
Method for calculating CE credit
CE credit was calculated by the complexity of content.
In support of improving patient care, Optum Health Education is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC) to provide continuing education for the health care team.
Credit designation statements
This activity was planned by and for the health care team, and learners will receive 0.75 Interprofessional Continuing Education (IPCE) credits for learning and change.
The participant will be awarded up to 0.75 contact hour(s) of credit for attendance and completion of supplemental materials.
The American Academy of Nurse Practitioners Certification Program (AANPCP) accepts credit from organizations accredited by the ACCME and ANCC.
This activity is approved for 0.75 contact hour(s) ([0.075] CEU) in states that recognize ACPE.
Attending the full program will earn 0.75 contact hour(s).
Unique Activity Number(s): JA0007123-0000-23-031-H04-P/T
Optum Health Education designates this enduring activity for a maximum of 0.75 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
The American Academy of Physician Assistants (AAPA) accepts credit from organizations accredited by the ACCME.
The Commission for Case Manager Certification has approved this program for a maximum of 0.75 clock hour(s) for Certified Case Managers (CCM).
Completion of this RD/DTR profession-specific or IPCE activity awards CPEUs (One IPCE credit=One CPEU).
If the activity is dietetics-related but not targeted to RDs or DTRs, CPEUs may be claimed which are commensurate with participation in contact hours (One 60 minute hour=1 CPEU).
RD's and DTRs are to select activity type 102 in their Activity Log. Performance indicator selection is at the learner's discretion.
Psychologists and social workers
Participants must have attended the entire Web-based activity and completed an evaluation to receive a certificate. Partial credit is not available.
Optum Health Education is approved by the American Psychological Association (APA) to offer continuing education for psychologists. Optum Health Education maintains responsibility for this program. 0.75 CE hour.
As a Jointly Accredited Organization, Optum Health Education is approved to offer social work continuing education by the Association of Social Work Boards (ASWB) Approved Continuing Education (ACE) program. Organizations, not individual courses, are approved under this program. State and provincial regulatory boards have the final authority to determine whether an individual course may be accepted for continuing education credit. Optum Health Education maintains responsibility for this course. Social workers completing this course receive 0.75 enduring continuing education credit.
A certificate of attendance will be provided to learners upon completion of activity requirements, enabling participants to register with licensing boards or associations that have not been preapproved for credits. To apply for credit types not listed above, participants should use the procedure established by the specific organization with which they wish to obtain credit.
- 0.75 ACPE - Pharmacists
- 0.75 ACPE - Pharmacy Technicians
- 0.75 AMA - Physicians
- 0.75 ANCC - Nurses
- 0.75 APA - Psychologists
- 0.75 Attendance - General Attendance
- 0.75 CCMC - General - Case Managers
- 0.75 CDR - Dietitians
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