Not Just a Carrier: Medical and Emotional Impact of Being a Carrier for an X-linked Disorder

The impact of X-linked disorders on female carriers is long overlooked. This session will explore the mechanisms behind symptom presentation in women with X-linked disorders, moving beyond the concept of X-linked dominant vs. X-linked recessive and surface level X inactivation. The session will also take a deeper dive into penetrance and clinical presentation in three exemplary conditions. Our session will continue with a facilitated panel discussion with several women who are carriers of X-linked disorders with varied experiences to explore the impact of being a carrier for an X-linked disorder and need for awareness and advocacy. Finally, the session will highlight the main psychosocial challenges faced by women who are carriers for X-linked disorders and discuss how genetic counselors can be key in supporting this often overlook community and close with time for questions and answers with all of our speakers and panelists. 

Presented by:
1. Rebecca McClellan
2. Julie Cohen, ScM, CGC
3. Kayla Banks, MS, CGC
4. Susan Howell, MS, CGC, MBA
5. Dawn Laney, MS, CGC, CCRC
6. Christine Disteche, PhD
7. Olivia Viola 

Learning Objectives:
1. Recognize how genetic counselors can empower this patient population
2. Analyze the mechanisms behind symptom presentation in women who are carriers of X-linked disorders
3. Recall the medical implications of being a carrier of Fragile X syndrome
4. List the medical implication of being a carrier of Duchenne or Becker muscular dystrophy
5. Define the medical implications of being a carrier of Fabry disease
6. Share the emotional impact of learning about one's carrier status
7. Describe how patient family planning decisions can be impacted by their carrier status
8. Identify the emotional challenges for carriers of X-linked disorders across the lifespan
9. Discuss practice implications for genetic counselors. 

Continuing Education Unit Approval:
The National Society of Genetic Counselors (NSGC) has authorized National Society of Genetic Counselors (NSGC) to offer up to 1.5 Category 1 contact hours for Compassion in Not Just a Carrier: Medical and Emotional Impact of Being a Carrier for an X-linked Disorder. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of genetic counselor certification and recertification. 

Successful Completion:
1. View recording
2. Pass quiz
3. Complete evaluation