‘Behind the Mystery: Rare and Genetic’ TV Show Brings Focus to FA Challenges

‘Behind the Mystery: Rare and Genetic’ TV Show Brings Focus to FA Challenges
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Lifetime TV‘s October 2 special edition of “Behind the Mystery: Rare and Genetic” focuses on Friedreich’s ataxia (FA) through the stories of a woman living with the rare disease and a medical researcher studying it.

“Behind the Mystery” educates viewers on rare and genetic disorders and seeks to raise their public visibility. Even medical professionals can struggle to recognize these uncommon conditions — FA affects about 1 in every 50,000 people. Public awareness, therefore, plays a key role in rare diseases’ diagnosis and treatment.

Susan Perlman, MD, a neurologist at University of California Los Angeles (UCLA), and Frankie Perazzola, an ambassador for the Friedreich’s Ataxia Research Alliance (FARA), share their knowledge and experiences in this special edition segment.

Perlman is the director of clinical trials in the UCLA neurogenetics program. She has authored numerous academic articles on FA and other ataxias for over the past 20 years, including a comprehensive summary of all FA clinical trial results to date in 2012. In the segment, Perlman describes the science behind FA and the challenges in diagnosing and treating it.

Perazzola pens Fighting FA, a column on her experiences with the rare disorder for Friedrich’s Ataxia News. Athletic and independent, her diagnosis of FA at age 22 upended Perazzola’s nascent career in professional sports, which began with an internship with the Los Angeles Clippers’ fan relations department. Perazzola tells the story of her diagnosis and how she adapted her life in its wake.

FA belongs to a group of disorders known as ataxia, which are characterized by a loss of muscle control and coordination.

In the case of FA, a mutation in both copies of a person’s FXN gene — one inherited from each parent — limits production of the frataxin protein, which cells need to produce energy.

As Perlman explains in the segment, this particularly affects the more energy-dependent cells of the brain, nervous system, and heart, leading to the symptoms of FA.

The symptoms tend to build slowly, however, and can initially overlap with those of other more common conditions. This complicates making an accurate and early diagnosis. “It takes on average 5 years for patients to receive a diagnosis,” the segment says. “For some, it may take even longer.”

Being diagnosed as soon as possible helps establish an effective treatment plan that can improve a patient’s quality of life. By shedding light on the challenges of recognizing and living with FA, “Behind the Mystery” provides a dose of knowledge needed to make people better patient advocates.

“To be a patient advocate is to arm yourself with the latest research, knowledge and resources for the community and so far we’ve been able to touch the lives of millions of people through the 90+ disease specific segments we’ve aired so far,” Carri Levy, creator of “Behind The Mystery,” said in a press release emailed to Friedrich’s Ataxia News.

This edition of “Behind the Mystery” also includes a segment on the research into blood cancers being conducted at the Leukemia and Lymphoma Society‘s Clinical Trial Support Center.

Behind the Mystery is a segment of the award-winning morning show, The Balancing Act. In addition to viewing it on TV, the segment is available online here. The FA piece alone is available here.

Forest Ray received his PhD in systems biology from Columbia University, where he developed tools to match drug side effects to other diseases. He has since worked as a journalist and science writer, covering topics from rare diseases to the intersection between environmental science and social justice. He currently lives in Long Beach, California.
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Inês holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she specialized in blood vessel biology, blood stem cells, and cancer. Before that, she studied Cell and Molecular Biology at Universidade Nova de Lisboa and worked as a research fellow at Faculdade de Ciências e Tecnologias and Instituto Gulbenkian de Ciência.
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Forest Ray received his PhD in systems biology from Columbia University, where he developed tools to match drug side effects to other diseases. He has since worked as a journalist and science writer, covering topics from rare diseases to the intersection between environmental science and social justice. He currently lives in Long Beach, California.
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