The Diagnostic Odyssey for Individuals With Rare Diseases: Spotlight on the Caregiver, Leukodystrophies
Chloe Sophia Barnes was born July 12, 2008 to Philip and Erica Barnes. She appeared happy and healthy, charming everyone with her mischievous grin. But at 18 months, Chloe was still struggling to walk and seemed to have unusual pain after naps and through the night. By 23 months, following assurances by their pediatrician that everything was fine, Philip and Erica were concerned enough to seek a second opinion. She received magnetic resonance imaging in June 2010 that indicated that her brain was slowly losing myelin, the fat that coats nerves and allows the brain to communicate with the rest of the body. After 2 months of an agonizing wait for a diagnosis, Chloe was diagnosed with metachromatic leukodystrophy (MLD). After a brave fight, Chloe died from complications following a stem cell transplant and an acceleration of MLD.
Chloe’s tragic story is all too common for families impacted by rare diseases. Too often, small patient populations and little funding for research means that rare diseases have few treatments and misdiagnosis is common. It’s this sort of story Erica Barnes works every day to help stop. Living with a rare disease impacts individuals and their family/caregivers, both physically and mentally. This podcast will share insights and perspectives directly from Erica Barnes and provide strategies that the interprofessional health care team can utilize to better support those impacted by rare diseases such as leukodystrophies.
This activity is provided by OptumHealth Education and UnitedHealthcare.
No commercial support was received for this activity.
Please ensure you are using the web-browser Chrome and disable any pop-up blocking software. Click here for information on how to enable pop-ups.
This activity is designed to meet the educational needs of case managers, counselors, nurses, nurse practitioners, pharmacists, pharmacy technicians, physicians, PAs, psychologists, social workers, therapists and other health care professionals (HCPs) who care for individuals with leukodystrophies.
At the end of this educational activity, participants should be able to:
- Describe the diagnostic journey for individuals affected by leukodystrophies.
- Discuss the challenges and barriers in the diagnosis and treatment of leukodystrophies. as well as the associated physical and mental health issues.
- Incorporate individual and caregiver(s) engagement in shared decision-making.
For more information on leukodystrophies, please also view the accompanying webcast. During the webcast, Dr. Paul Orchard will explore recent advances in the diagnosis and treatment of leukodystrophies, including current clinical trials.
Click here to access the webcast, The Diagnostic Odyssey for Individuals With Rare Diseases: Leukodystrophies.
Chloe’s Fight Rare Disease Foundation
About the presenter
Erica and Philip Barnes founded Chloe’s Fight Rare Disease Foundation (CFRDF) in honor of their late daughter Chloe Sophia Barnes (July 12, 2008-November 19, 2010). After promoting rare disease research and advocacy through Chloe’s Fight and the RareAction Network, Erica joined the University of Minnesota, where she leads the Chloe Barnes Rare Disease Advisory Council. In 2019, the Minnesota State legislature passed, and the governor signed into law, a bill for the creation of the Chloe Barnes Advisory Council on Rare Diseases with oversight provided by the University of Minnesota Board of Regents. Erica is also mother to Eva and Cade. Her interests include traveling, reading, writing, eating good food and gardening. She also blogs and writes fiction. She is nationally recognized as a tireless champion for children with rare diseases.
Robin K. Blitz, MD
Senior Medical Director
Family Engagement Center / Special Needs Initiative / Complex Health Solutions
About the moderator
Robin K. Blitz, MD is a board-certified, developmental-behavioral pediatrician and is currently a senior medical director for Complex Health Solutions and the Family Engagement Center UnitedHealthcare. Dr. Blitz has almost 30 years of experience providing care for children with special health care needs and educating health care providers, residents, medical students, educators and families. She is a fellow of the American Academy of Pediatrics and the Society for Developmental and Behavioral Pediatrics. Dr. Blitz’s clinical interests include medical home care, shared decision-making, supported decision-making, transition to adult care, the special needs of foster and adopted children, prenatal alcohol and drug exposure, Down syndrome, adverse childhood experiences, autism spectrum disorder, Fragile X syndrome, attention-deficit/hyperactivity disorder, learning disabilities and the care of premature infants and children with multiple developmental disabilities.
Sarah Chart, RN
Rebecca Gleason, RN, CCM
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.
The activity faculty or 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, this activity has been planned and implemented by OptumHealth Education and UnitedHealthcare. OptumHealth 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 ([0.075] CEU) in states that recognize ACPE.
Attending the full program will earn 0.75 contact hour.
Unique Activity Number(s): JA0007123-9999-22-137-H01-P/T
OptumHealth 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 hours for Certified Case Managers (CCM).
OptumHealth Education is approved by the American Psychological Association (APA) to offer continuing education for psychologists. OptumHealth Education maintains responsibility for this program. 0.75 CE hour.
As a Jointly Accredited Organization, OptumHealth 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. OptumHealth Education maintains responsibility for this course. Social workers completing this course receive 0.75 enduring continuing education credits.
Counselors and/or marriage and family therapists
CA: The Board of Behavioral Sciences has deferred CE course approvals to APA and ASWB for its licensees. See those approvals under Psychologists and Social Workers.
Other States: If your state is not specifically listed, nearly all state Counselor and MFT boards accept either APA or ASWB approval, or are reciprocal with other state licensing board approvals, such as those listed below. Check with your board to be sure.
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 from 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
You must be logged into your account to participate in this activity. Get started by clicking “Continue” and listening to the podcast; then follow the prompts at the bottom of the screen. At the end of the activity, you will be able to view, save or print your certificate of participation. A complete listing of your activities can be found under “My Account,” “My Activities.”