By Kristin Bogart
On July 18, 2022, Lifetime’s daily morning show, The Balancing Act, aired a segment titled, “Behind the Mystery of Fragile X Syndrome: A Genetic Disorder That Can Cause Learning and Behavior Challenges.”
The segment is part of the Behind the Mystery series that focuses on rare and genetic diseases. The segments highlight the emotional, scientific, and medical aspects of rare diseases, with the goal of clarifying complex information, expanding awareness, and giving a voice to patients, their families, and advocates.
The segment runs nine-and-a-half minutes and features Ilana Garber, mom to Yaron, her 11-year-old son with Fragile X syndrome, sharing their family’s Fragile X journey.
“The more you can know and advocate, and you can make decisions that are based on knowledge and information, the better. And really being able to think toward the future and how this moment in time and this awareness is going to shape our future generations. It’s a very powerful thing — and it’s really a gift!”
Tamar H. Goldwaser, MD, a medical geneticist, is also featured and shares more about Fragile X syndrome and encourages viewers to learn more about screening for Fragile X. You might also be interested in watching “Fragile X Screening” – with Dr. Tamar Goldwaser, from the Healthful Woman Podcast.
Thank you Dr. Goldwaser. Thank you, Ilana, for sharing your story. And, thanks to Asuragen for sponsoring this valuable content.
You can watch the segment below, or on The Balancing Act website.
We also have a few notes on some things that were brought up in the video:
The segment reported that Ilana’s genetic screening revealed she had the mutation on both of her X chromosomes. This is not typical.
Ilana speaks about FXPOI during the segment. Fragile X works differently than other genetic conditions. Though she’s a premutation carrier (and does not herself have the full mutation that causes Fragile X syndrome), there are associated conditions carriers may develop as an adult related to their status as a premutation carrier. These include Fragile X-associated primary ovarian insufficiency (FXPOI) and Fragile X-associated tremor/ataxia syndrome (FXTAS).
There are several sources of information about Fragile X syndrome in addition to those mentioned in the segment. Here are a few:
author
Kristin Bogart
Kristin joined the NFXF team in 2019. She has over 20 years of experience in fundraising and non-profit management, event planning, and board and volunteer development. She earned a bachelor’s degree in economics and a master’s in public administration. Kristin loves spending time with her two teenage sons and in the company of friends, and enjoys gardening, running, and hiking in the Santa Cruz mountains.
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