The Diagnostic Odyssey for Individuals With Rare Diseases: Achondroplasia and Other Causes of Disproportionate Short Stature
A disease is considered rare if it affects fewer than 200,000 individuals in the US. Uncovering the genetic roots of rare diseases and using those insights to develop new treatments is an ongoing process. There are many different conditions that can cause disproportionate short stature, but achondroplasia is the most common skeletal dysplasia found in humans, accounting for 90% of cases of disproportionate short stature. Achondroplasia is a disorder of bone growth that prevents the changing of cartilage to bone, which causes disproportionately short stature. Living with a rare disease impacts the individual and their family/caregivers both physically as well as mentally. This activity will explore the recent advances in the diagnosis and treatment of achondroplasia and other causes of disproportionate short stature. It will also share the importance of the interprofessional team to provide insights, perspectives and strategies to support the well-being of both the individual and their family/caregiver(s).
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 (HCPs) who care for individuals with short stature.
At the end of this educational activity, participants should be able to:
- Describe the diagnostic journey for individuals with disproportionate short stature.
- Discuss the diagnosis, underlying causes and management of achondroplasia and other causes of disproportionate short stature.
- Explain emerging diagnostic tools and therapies for achondroplasia and other causes of disproportionate short stature.
- Discuss challenges and barriers in the diagnosis and treatment of achondroplasia and other causes of disproportionate short stature, as well as the associated physical and mental health issues.
- Incorporate individual and caregiver engagement in shared decision-making.
- Summarize interprofessional team strategies for improving coordination and communication to support the well-being of both the individual and their family/caregiver(s).
Gary A. Bellus, PhD, MD
Clinical Genetics & Genomic Medicine
Geisinger Health System
About the presenter
Dr. Bellus is a board-certified and fellowship-trained specialist in clinical genetics. His clinical interests include skeletal dysplasia and genetic skin disorders. Dr. Bellus attended the University of Colorado, where he received his medical degree. He completed his residency at St. Louis Children's Hospital, a fellowship at Johns Hopkins University School of Medicine and another fellowship at the University of Colorado Health Sciences Center. Dr. Bellus is certified by the American Board of Medical Genetics and Genomics and by the American Board of Pediatrics.
Robin K. Blitz, MD
Family Engagement Center / Special Needs Initiative / Complex Health Solutions
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 1.00 Interprofessional Continuing Education (IPCE) credits for learning and change.
The participant will be awarded up to 1.00 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 1.00 contact hour ([0.10] CEU) in states that recognize ACPE.
Attending the full program will earn 1.00 contact hour.
Unique Activity Number(s): JA0007123-9999-22-171-H04-P/T
Optum Health Education designates this enduring activity for a maximum of 1.00 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 1.00 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. 1.00 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 1.00 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.
- 1.00 ACPE - Pharmacists
- 1.00 ACPE - Pharmacy Technicians
- 1.00 AMA - Physicians
- 1.00 ANCC - Nurses
- 1.00 APA - Psychologists
- 1.00 Attendance - General Attendance
- 1.00 CCMC - General - Case Managers
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