What do you wish more women knew after learning they carry an X-linked genetic condition, and what questions should they bring to their doctors and genetic counselors?
Thank you for the thoughtful question, Brian!
I wish more women knew that oftentimes, "carriers" of X-linked genetic conditions are not simply carriers and can experience symptoms of their conditions. In many X-linked condition communities, like Fabry disease and adrenoleukodystrophy (ALD), we don't use the term "carrier" at all and refer to affected females as women and girls with [disease].
Women who are discovered to have a pathogenic variant for an X-linked condition should ask their genetic counselors and doctors (ideally, specialists) about family planning options (if they are interested in starting or growing their families) and available treatment options for any symptoms they might be experiencing.
Remember The Girls has a Self-Advocacy Guide to aid these women in navigating appointments with medical professionals who may not be aware that females with X-linked conditions can experience symptoms.
Thank you for the thoughtful question, Brian!
I wish more women knew that oftentimes, "carriers" of X-linked genetic conditions are not simply carriers and can experience symptoms of their conditions. In many X-linked condition communities, like Fabry disease and adrenoleukodystrophy (ALD), we don't use the term "carrier" at all and refer to affected females as women and girls with [disease].
Women who are discovered to have a pathogenic variant for an X-linked condition should ask their genetic counselors and doctors (ideally, specialists) about family planning options (if they are interested in starting or growing their families) and available treatment options for any symptoms they might be experiencing.
Remember The Girls has a Self-Advocacy Guide to aid these women in navigating appointments with medical professionals who may not be aware that females with X-linked conditions can experience symptoms.
