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.
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 […]
On today’s special series “Behind the Mystery” we’re talking about Cushing Syndrome, a rare hormonal disorder that is too often misdiagnosed where patients are simply told to just lose weight! An estimated 25,000 patients in the United States and 40,000 patients in Europe are currently diagnosed with endogenous Cushing syndrome. Endogenous Cushing syndrome is believed […]
The Balancing Act spreads awareness about Hereditary ATTR Amyloidosis and introduces two women who are battling the disease with positivity and education.
Finding an underlying cause to your child’s long list of childhood illnesses and repeat visits to your pediatrician can be tough. But it’ll also be a huge relief when you’re able to pin-point the problem. Dr. Barbara Burton, MD, Professor of Pediatrics, Northwestern University; Dr. David Molter, Professor of Otolaryngology, Washington University School of Medicine, […]
Today, you may think you’re not affected by rare disease – but based on the realities of human genetics, you, your child or your loved one could wake up tomorrow with a different reality. Gradual or sudden onset of mysterious symptoms. Doctor after doctor. Second, third and fourth opinions. Sleepless nights. A critical race against […]
CTEPH is a rare type of pulmonary hypertension (PH). In CTEPH, a thrombus (clot-like mass) gets stuck to the lung’s blood vessel wall and blocks blood flow. CTEPH is frequently underdiagnosed and frequently undertreated. The most common symptoms are shortness of breath with exercise/activity, fatigue and tiredness or weakness – and a depressed mood. It’s […]
If the odds were 1 in 100,000 you were that one, well…. most times you’d consider yourself lucky. But what if you were 1 in 100,000 born with one of the rarest, most deadly diseases known to medicine? Those are the odds with Hereditary Tyrosinemia Type 1, or HT-1 – odds no one wants to […]
Growing taller is a natural progression—for most children. But not for those who have a medical condition that stunts their growth. Pediatric Endocrinologist Dr. Will Charlton, of Pharmaceutical company, Versartis, Incorporated, join us to discuss a rare condition, called Pediatric Growth Hormone Deficiency. It occurs when the pituitary gland, located at the base of the […]
Dr. Leah Lande, a pulmonologist with Lankenau Medical Center, Philip Leitman, Co-Founder/President of NTM Info & Research, and NTM Patient, Betsy Nardi, join us to discuss NTM Lung Disease. NTM stands for Nontuberculous Mycobacteria. NTM lung infection is a chronic, incurable condition that can get progressively worse, and can be debilitating in some patients. Awareness […]