Behind the Mystery: Rare and Genetic Diseases

When a routine urine test uncovers an abnormality, John Marsala is told to follow up with a nephrologist. Upon evaluation, John is diagnosed with a disease that his nephrologist leads him to believe is nothing to worry about. It isn’t until several month later, when John is denied life insurance that he realizes the magnitude of his diagnosis. Join us as Dr. Jonathan Barratt of the University of Leicester educates listeners about a disease that manifests in the kidneys, but according to most scientific studies, begins in the gastrointestinal tract.

48-year-old Frank Guarino’s diagnostic odyssey began with the onset of an upset stomach, side pains and chest discomfort. Over the course of the next several months, Frank found himself in the hospital where scans revealed that his gallbladder had been functioning at only three percent – he eventually developed flu-like symptoms, swollen lymph nodes and progressive deterioration of kidney and liver functions. What type of disease attacks and eventually shuts down the body’s vital organs? In this episode, we learn about a disease that is sometimes referred to as a mix between an autoimmune disease, an infectious disease and a cancer, with symptoms that mimic many other disorders. Can you connect the dots and correctly diagnose Frank?

Have you ever experienced a panic attack? The intense feeling of fear and extreme nervousness can be debilitating, but only lasts for a short duration. Now imagine feeling as if you’re trapped in a constant panic attack-like cycle – tremors, sweating, heart palpitations, pounding headache – all coming and going without any apparent rhyme or reason. This was the case for David Basham. David was diagnosed with a rare genetic disease at 30 years old. The disease presents with over 100 different signs and symptoms that can come and go without warning. A common experience for patients is an attack – an onslaught of symptoms that can be sudden, intense and debilitating. Join us as  Dr. Joseph Dillon, Co-Director of the Neuroendocrine Tumor Clinic at the University of Iowa educates us on this rare disease, symptoms to be aware of, and how patients should proceed if they are diagnosed. How did David reach his diagnosis? What were his symptoms and why was his disease so hard to diagnose? Test your rare disease knowledge and see if you can solve David’s case on this episode of Behind the Mystery.

When a dialysis nurse who is dedicated to caring for her patients, is diagnosed with a very rare disease, she dives into her family history and discovers a shocking revelation – a genetic inheritance pattern in past and current generations of her family. Join us as we go Behind the Mystery of a rare, genetic and chronic kidney condition characterized by declining kidney function, which can lead to end - stage kidney disease. Can you piece together this patient’s diagnostic clues and correctly guess her diagnosis?

The college experience is one of the most exciting times for young adults and it was no different for today’s guest.This young lady was an active athlete who was used to strenuous exercise routines and college parties. So why was she having trouble walking and standing up straight? What can make an athlete who’s perfectly healthysuddenly develop gait problems and lack of depth perception? Join in as Frankie Perazzola takes us on her journey to a correct diagnosis while she stresses the importance of accurately describing your symptoms. Listen as Dr. Susan Perlman describes the clinical presentation of this progressive and debilitating neurological disorder, in this episode of Behind the Mystery.

It is one of the rarest and most disabling genetic conditions known to medicine. Your body’s soft tissues – muscles, tendons and ligaments – turn to bone, forming an extra skeleton. Do you know what it is? If not, do not be discouraged. Not even doctors have an easy time diagnosing this disorder. On this episode of “Behind the Mystery,” Nancy Sando shares her story and diagnostic journey. We hear from Dr. Richard Keen of the Royal National Orthopedic Hospital in the United Kingdom, as he explains the symptoms and the signs to look for when diagnosing this condition.

Welcome to "Behind the Mystery," a podcast dedicated to rare and genetic diseases and the emotional, scientific and medical aspects associated with them. Do you have what it takes to guess the correct diagnosis? Don’t sit back and relax... Sit up and listen! You could help save a life.