The Diagnostic Odyssey for Individuals With Rare Diseases: Spotlight on the Patient, Pompe Disease Disease
Nealie White grew up in a small town in rural Illinois, with limited access to quality health care. When she was in high school, she visited a dermatologist and was prescribed Accutane. The monthly bloodwork that Accutane requires showed high levels of liver and muscle enzymes. However, since she did not appear to be showing any symptoms, doctors decided to “keep an eye on it.” Nealie played sports in middle school and was on the dance team in high school. While in high school, she could not jump high enough to do a toe touch, but since she was able to go up the stairs with no issues, there was no concern.
As a young adult, Nealie gave birth to two children, moved to Colorado, and experienced ongoing muscle weakness and issues walking (which worsened after the birth of her second child.) After many office visits and tests, doctors concluded she had congenital myopathy and muscle weakness. Finally, in December of 2014, a neuromuscular physician first mentioned Pompe disease. Nealie was tested, and in January of 2015, she began taking enzyme replacement therapy, the only effective treatment for Pompe disease. Unfortunately, Nealie’s long and complex journey to diagnosis is not unique. In this podcast, Nealie will share her insights and perspectives, and panelists will provide strategies that the interprofessional health care team can utilize to better support people who are impacted by rare diseases.
This activity is provided by Optum Health Education and UnitedHealthcare.
No commercial support was received for this activity.
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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 who care for individuals with Pompe disease.
At the end of this educational activity, participants should be able to:
- Describe the diagnostic journey for individuals affected by Pompe disease.
- Discuss the challenges and barriers in the diagnosis and treatment of Pompe disease as well as the associated physical and mental health issues.
- Incorporate individual and caregiver(s) engagement in discussions and shared decision-making.
Brody Chemical Company
Highlands Ranch, CO
About the presenter
Nealie White grew up in a small town in rural Illinois. Her diagnostic journey began in high school after routine blood work showed high levels of liver and muscle enzymes. In late 2014, she was finally tested for Pompe disease. She started enzyme replacement therapy in 2015 and continues this treatment today. Nealie is a mother of two and a long-time sales representative.
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
Optum Health Education
Rebecca Gleason, RN, CCM
Optum Health Education
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, Optum Health 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 presenter and 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 Optum Health Education and UnitedHealthcare. 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 ([0.075] CEU) in states that recognize ACPE.
Attending the full program will earn 0.75 contact hour.
Unique Activity Number(s): JA0007123-9999-22-092-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 hours for Certified Case Managers (CCM).
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 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
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