On Tuesday, February 8 from 7:00 – 8:30 pm ET, HFA will present “Barriers to Diagnosis: Women with X-linked Diseases” in partnership with Remember the Girls and the National Organization for Rare Diseases (NORD). A ubiquitous belief among medical professionals is that all X-linked diseases are recessive, meaning a person would need two genetic mutations in order to manifest the disease. This outdated nomenclature has been a diagnosis and treatment barrier for many women who are carriers of X-linked genetic mutations and are manifesting disease symptoms. This is happening across multiple X-linked disease states including Hemophilia A & B, Adrenoleukodystrophy, Hunter Syndrome, Alport Syndrome, Duchenne Muscular Dystrophy, Fragile X Syndrome, and dozens more.
In utero, developing female fetuses go through a process called X-inactivation, also known as Lyonization. This process randomly turns off one X chromosome in each cell (as the cells do not need two X chromosomes). Skewed X-inactivation can cause women with only one copy of a genetic mutation to manifest mild, moderate, or even severe X-linked disease symptoms.
This webinar is designed for women with x-linked genetic diseases, healthcare providers, and caregivers and addresses the challenges women with X-linked diseases face. Challenges and barriers to diagnosis and care, as well as an explanation of women and manifestation of symptoms of X-linked diseases, will be discussed. There will also be a time for Q&A at the end.
Presenters will include Dr. Rebecca Spencer (anesthesiologist who has researched X-linked inactivation), Taylor Kane (founder of Remember the Girls – an organization dedicated to women who carry X-linked diseases), and Kristen Angell, Associate Director of Advocacy, NORD.
This is a fantastic opportunity to bring together women and providers from multiple disease communities to talk about the shared struggle for diagnosis and care. Furthermore, we will address the concern that current nomenclature continues to impede access to care. We are hopeful this webinar will be the beginning of a continued conversation to improve diagnosis and care for all women who are carriers of X-linked diseases.
Dr. Rebecca Spencer, M.D., Ph.D., is a practicing anesthesiologist at Concord Hospital in New Hampshire. In her clinical practice, she consults for patients with X-linked and other rare diseases. Her Ph.D. research focused on X chromosome inactivation. Dr. Spencer received her M.D. and Ph.D. degrees from Harvard and trained in anesthesiology at Massachusetts General Hospital. She is a member of the medical advisory board for Remember the Girls.
Taylor Kane has spent most of her life as a rare disease advocate. She is the founder and executive director of Remember The Girls, an international non-profit organization that unites, educates and empowers female carriers of X-linked genetic disorders. Taylor’s activism began when she was in grade school, shortly after her father died from the rare X-linked disorder Adrenoleukodystrophy (ALD) and she learned that she was a carrier of this devastating disease. She is an award-winning activist, an accomplished speaker, and a respected author, having recently published a memoir, Rare Like Us: From Losing My Dad to Finding Myself in a Family Plagued by Genetic Disease.
Kristen Angell is the Associate Director of Advocacy for the National Organization for Rare Disorders (NORD). Kristen oversees the Rare Action Network (RAN) program at NORD. RAN is the grassroots advocacy arm of NORD.Â She works with rare disease patients, families, organizations, industry leaders, medical professionals, and elected officials spanning across all 50 states on public policy and advocacy initiatives to improve the lives of those impacted by rare diseases. With over 15 years of advocacy experience, Kristen is devoted to empowering individuals in the community to advocate for change and raise awareness on many social issues.Â She has been a freelance graphic designer for over 20 years and regularly lends her design and non-profit expertise to numerous charitable organizations within her own community. She lives with her family in Southbury, Connecticut.