Behind the Mystery
A specialized, recurring segment devoted to rare and genetic diseases, Behind the Mystery highlights the emotional, scientific, and medical aspects associated with rare and genetic diseases. We clarify the often-complex issues by offering easy-to-understand explanations from top experts in the field, the National Institutes of Health (NIH) and those diagnosed with rare diseases. Behind the Mystery works with organizations like Global Genes and the National Organization for Rare Disorders (NORD) to expand awareness, educate the public and provide the viewer with early diagnosis and treatment options.
Plasminogen Deficiency (PLGD) is an ultra-rare genetic disease that can have devastating effects on multiple organ systems throughout the body. PLGD has most often being diagnosed in children and is associated with the abnormal accumulation or growth of fibrin-rich pseudomembranous lesions on mucous membranes such as the conjunctiva, gums, and linings of the airways and […]
This episode of The Balancing Act focuses on two very different diseases: Lupus and Plasminogen Deficiency (PLGD). Fortunately, research is yielding encouraging treatment options for both diseases. The Lupus Foundation of America estimates that 1.5 million Americans — and at least five million people worldwide — have a form of lupus. Join us for a […]
The Orphan Drug Conference USA 2017 welcomed thousands of attendees as science, industry, big pharma, and patient advocacy groups met in Washington, D.C. Their objective? To develop therapies, raise research money and bring the challenge of defeating rare diseases to the forefront. Sponsored by global events company Terrapinn, the event is in its seventh year.
ALS is a rare, debilitating neurodegenerative disease that can affect anyone. We’ll meet a man who has been diagnosed with ALS and faces daily challenges associated with the rare disease. We’ll also hear from Dr. Steven Perrin, CEO and Chief Scientific Officer at the ALS Therapy Development Institute in Cambridge, Mass., who will explain the […]
Imagine– a rare disease that’s rarely diagnosed– because it mimics so many other diseases. We’re talking about Alpha-1 Anti-TRIP-sin Deficiency – or AAT — a hereditary condition that may cause lung disease and liver disease. Dr. Kyle Hogarth, a Pulmonologist, at the University of Chicago and an expert in pulmonary diseases, joins us to discussAlpha-1 […]
During The Balancing Act’s Rare Disease special we explore two rare diseases, X-linked hypophosphatemia and neuroendocrine tumors, as well as catch up with one special patient who inspired our Behind the Mystery segments. X-linked hypophosphatemia is an inherited bone disorder causing bow-legs, pigeon-toes and excessive cavities due to low phosphorus levels. We hear how it […]
If you are struggling to get a diagnosis for chronic symptoms like diarrhea, flushing, abdominal pain, fatigue or wheezing, you may want to get tested for Neuroendocrine tumors (NETs). Symptoms vary widely between NET patients and may be confused with Irritable Bowel Syndrome, rosacea, ulcers, Crohn’s disease, allergies or pneumonia. Blood work and urine tests […]
XLH is often perceived as a child’s disease, but this rare, debilitating bone disease is a genetic disease that continues to progress with age. We’ll meet a family that has been diagnosed with X-linked Hypophosphatemia and is now living with the reality of the disease. We’ll also hear from Dr. Jan De Beur, an endocrinologist […]
AL amyloidosis impacts different organs and many of its symptoms are also common to other diseases. Many patients, like Isabelle Lousada, spent several months—her health deteriorating– going from one doctor to another—trying to get a proper diagnosis. She was in her early thirties at the time. Doctors diagnosed her with Chronic Fatigue Syndrome. It wasn’t […]