Community Events

Free Webinar: Forgotten & Unseen: A Global Perspective on Life as an X-Linked Carrier

April 25, 2023

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Join IndoUSrare, Remember The Girls, and Child & Youth Care Zimbabwe as they host a panel discussion with X-linked carriers from three different continents. Hear about how their experiences navigating the health care system, family planning, and societal expectations as carriers relate and differ based on where they are from in the world.

Meet the speakers

Ms. Taylor Kane
Founder and Executive Director Remember The Girls

Taylor Kane’s passion for rare disease advocacy began in grade school, shortly after her father died from the rare X-linked condition adrenoleukodystrophy (ALD) and she learned that she was a genetic carrier of the disease. Remember The Girls, an international nonprofit organization that aims to break the stigma facing females with X-linked disorders. She also champions the needs of the rare disease community and works to foster communication and trust-building initiatives between biotechnology, pharmaceutical, and genomic companies and their patient populations as a consultant

Mrs. Trudy Nyakambangwe
Founder and Director of Child and Youth Care Zimbabwe

An organization that offers support to families living with rare medical conditions. Trudy is a hemophilia carrier and a mother of two, one of whom she lost to hemophilia. Her personal experience led her to become an advocate for people living with rare diseases. Child and Youth Care Zimbabwe provides various services to families living with rare medical conditions, including education, counseling, and support.

Ms. Nirmala Parab

Nirmala is a mother of two sons with Duchenne Muscular Dystrophy (DMD), a rare genetic disorder that primarily affects boys and results in progressive muscle weakness and degeneration. Nirmala’s personal experience with DMD has motivated her to become an advocate for the condition and to work towards improving the lives of those affected by it. As an active member of the Parent Project Muscular Dystrophy, Nirmala advocates for increased awareness and research into DMD.

X-linked genetic conditions are caused by mutations on the X chromosome. Since males typically have one X chromosome (XY), if they have a pathogenic variant on their X chromosome they usually develop the associated condition. Females, on the other hand, typically have two X chromosomes (XX), so if they have a pathogenic variant on one of their X chromosomes, they may or may not have symptoms of the associated condition.

Whether or not a female with an X-linked pathogenic variant has symptoms is determined by multiple factors, including underlying disease mechanisms and X-inactivation. X-inactivation is a phenomenon that occurs when the body randomly inactivates one of the X chromosomes in females.

Depending on the condition, females may be referred to as carriers, asymptomatic carriers, symptomatic carriers, manifesting carriers, women with X-linked conditions, females with X-linked conditions, or patients. Females may also have terminology preferences based on their own personal health and experiences.

X-linked conditions are usually inherited, but can also result from spontaneous mutations during the development of an embryo. Females with an X-linked condition, sometimes known as “carriers,” have a 50% of passing the pathogenic variant down to their children. As is the case for X-linked diseases, only one parent must have or carry a condition for it to be passed down to a child.