Classic Symptoms of Rare Diseases and Avoiding Diagnostic Odysseys

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Classic Symptoms of Rare Diseases and Avoiding Diagnostic Odysseys

FromDDx

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11 minutes

Released:

Jun 1, 2022

Format:

Podcast episode

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Rare diseases are … rare … which makes even textbook cases difficult to diagnose. In this episode, we’ll talk about the patterns and characterizations of a rare disease and how we can avoid diagnostic odysseys.

Released:

Jun 1, 2022

Format:

Podcast episode

Titles in the series (59)

A podcast about how doctors think. Presented by Figure 1, the knowledge-sharing app for healthcare. Learn more at figure1.com/DDx

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Pattern Recognition Can Save a Life: A dermatologist is paged to examine a rare condition. But something doesn’t add up. Head to , where you can find full show notes, photos, and speaker bios. by DDx
11 min listen
Anchoring bias and the frequent flyer.: A 19-year-old with sickle cell disease is well-known to ER doctors as a "frequent flyer". Every time they see her it's due to chronic pain related to her disease. Except for the one time it isn't. For related photos, medical cases and links to... by DDx
11 min listen
The near-miss.: A patient says she feels fine. A quick-thinking doctor arrives at a dire and uncommon diagnosis. Then it happens again. And again. by DDx
12 min listen
The source of the bleed.: A patient with an acute subdural hematoma presents with no sign of head trauma. The search for an answer almost overlooks an obvious question. by DDx
11 min listen
Why Skin Color Matters: Unconscious bias can run so deep that patients and doctors alike can miss a potentially fatal diagnosis. Head to , where you can find full show notes, photos, and speaker bios. by DDx
9 min listen
Sudoku seizures.: A young man's near-death experience results in a very puzzling diagnosis on the season finale of DDx. by DDx
9 min listen
Hunting for a diagnosis: After a patient in his early 30s develops muscle weakness so severe he requires a wheelchair, he’s diagnosed with multiple sclerosis, and starts treatment for the disease. But when a bone scan reveals multiple fractures, his physicians start to question their original diagnosis. by DDx
11 min listen
$Hunting for a diagnosis: After a patient in his early 30s develops muscle weakness so severe he requires a wheelchair, he’s diagnosed with multiple sclerosis, and starts treatment for the disease. But when a bone scan reveals multiple fractures, his physicians start to question their original diagnosis.$
Rash Decision: What do you do when faced with a set of symptoms that has two contradictory courses of treatment? Head to , where you can find full show notes, photos, and speaker bios. by DDx
10 min listen
Extreme reactions to marijuana.: Chronic vomiting, a flushed complexion, and acute agitation: can cannabis be the cause? A growing consensus among doctors suggests cannabinoid hyperemesis syndrome is real and on the rise. by DDx
12 min listen
Psoriasis and Mental Health (Sponsored): A common skin condition affects much more than a patient’s skin, and misinformation only exacerbates the stigma. This episode is brought to you by Novartis Pharmaceuticals Corporation. Head to , where you can find full show notes, photos, and... by DDx
13 min listen
Scratching the Surface (Sponsored): A patient presents with fever, swollen digits, and skin "the color of a red delicious apple." She’s been scratching so hard that she’s bleeding through her shirt. What’s going on? This episode is brought to you... by DDx
9 min listen
Abortion As Health-Care (a Mini-Series): Meet three obstetricians who perform an essential medical procedure: abortion. Learn about their patients and how abortion affects both physical and mental health. From a molar pregnancy to fetal chromosomal abnormalities, these stories illustrate the life-saving impact of abortion, and its necessity within healthcare. by DDx
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More Than Skin Deep (Sponsored): While skin findings can sometimes help with a diagnosis, they can also distract from other undiagnosed symptoms. This episode is brought to you by Novartis Pharmaceuticals Corporation. Head to , where you can find full show notes,... by DDx
10 min listen
Young, fit and female? Higher chance of misdiagnosis.: Welcome to DDx, an original podcast by Figure 1 about how doctors think. On episode 1, host and emergency doctor Raj Bhardwaj presents a real medical case as told by the doctor who diagnosed it. A young woman is almost misdiagnosed - perhaps... by DDx
10 min listen
Classic Symptoms of Rare Diseases and Avoiding Diagnostic Odysseys: Rare diseases are … rare … which makes even textbook cases difficult to diagnose. In this episode, we’ll talk about the patterns and characterizations of a rare disease and how we can avoid diagnostic odysseys. by DDx
11 min listen
The forgotten disease: A 35-year-old man thought he had outgrown the rare disorder which he was diagnosed with as a child. But as his movement becomes increasingly limited, he realizes that he never escaped it, and now there’s more than just his mobility at stake. by DDx
12 min listen
DDx Returns for a Third Season: Welcome back to DDx, a show about how doctors think. In Season 3, focused on rare disease, you’ll meet the doctors searching for the zebra among a herd of horses. Join host Dr. Raj Bhardwaj as he explores the challenges in distinguishing rare diseases from common ones, and how to recognize them when the stakes are life and death. by DDx
2 min listen
A Brief History of Gene Therapy and the Discovery of DNA: Explore some of the major scientific findings – like discovering DNA – that set the stage for gene therapy, and its groundbreaking potential in the treatment of genetic diseases. by DDx
12 min listen
Searching for zebras: Few patients. A scarcity of literature. Working in rare disease can feel like you’re standing at the edge of an abyss with just a flashlight in your hand. And someone’s life depends on you--Meet the doctors who spend their time searching for zebras, and find out what motivates them. by DDx
8 min listen
When the fever breaks: A one-year old boy is brought to his doctor with a history of febrile seizures, odd movements, and developmental delay. His seizures continue, but the fevers stop. And doctors realize they’re in a race against time. by DDx
9 min listen
Gene Therapy in Action: Adeno-Associated Viral Vectors: Adeno-associated viral vectors, or AAVs, are the tiny shells of viruses and are the most common vessels for delivering gene-based therapies. Launch into the past, present, and future of these viral rocket ships. by DDx
12 min listen
The Importance of Genetic Screening: Genetic screening is vital for early diagnosis and management of genetic diseases. Dig into how it works, how it can help treatments reach patients sooner, and how it informs traditional treatments like physical therapy. by DDx
9 min listen
The Many Questions and Few Answers of a Rare Disease Diagnosis: A toddler has episodes where his face changes, his arms shoot up, and he collapses. On this episode of the podcast, we address when rare disease diagnoses offer more questions than answers, and treatment options don’t lead to a cure. by DDx
13 min listen
When an Infection Isn't an Infection: A routine surgery leads to a puzzling reaction. Is more surgery required, or is it something else? Head to , where you can find full show notes, photos, and speaker bios. by DDx
13 min listen
Code blue: “Code blue, unit 305. Code blue, unit 305.” After an 8-year-old boy with recurrent episodes of rhabdomyolysis is hospitalized for treatment of a rare inherited disease, his condition quickly deteriorates. by DDx
9 min listen
DDx is Back for Season Four: Take a deep dive into one of the most awe-inspiring medical innovations of our time: gene therapy. This season, we’ll explore the infinite universe inside the tiny molecules of our DNA, and look at medical technology with the potential to reshape our approach to treating many genetic diseases. by DDx
1 min listen
How Does Gene Therapy Work? Correcting Disease-Causing Genetic Variations: While some genetic variations are positive, others can cause or contribute to disease. Learn how gene therapy replaces and repairs certain gene variants, and is changing the trajectory of genetic diseases. by DDx
10 min listen
Overlooked Diagnostic Test for Blood Calcium Levels Leads to Rare Diagnosis: A person goes to the ED with the feeling their body is turning to stone. An overlooked health history note and diagnostic test for blood calcium levels complicate a rare disease diagnosis in this episode of DDx. by DDx
10 min listen
The Future of Gene Therapy and Genetic Diseases: Peek into the future of gene therapy and its capacity to treat – maybe eliminate – genetic diseases like cancers and hemophilia. Plus, the potential to reverse the effects of aging. by DDx
10 min listen
A fractured childhood: When a baby girl is born with two broken femurs, doctors don’t notice the bluish-grey discoloration of her sclera, her bowed and shortened legs, or her larger-than-normal head. And it will be months before they piece together the puzzle by DDx
12 min listen
$A fractured childhood: When a baby girl is born with two broken femurs, doctors don’t notice the bluish-grey discoloration of her sclera, her bowed and shortened legs, or her larger-than-normal head. And it will be months before they piece together the puzzle$

More Episodes from DDx

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The Power and Potential of GACI Clinical Trials: What’s thought to be a case of newborn hiccups unravels to a grim diagnosis: generalized arterial calcification of infancy, or GACI, a rare genetic condition with a challenging prognosis. Nearly half of infants don't survive beyond six months. But a revolutionary clinical trial could potentially transform this child's life and the lives of others with this disease. by DDx
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Biosimilars and the Quiet Revolution in Medicine: A 62-year-old falls and fractures her wrist. This simple fracture reveals underlying osteoporosis, requiring lifelong (and expensive) medication. But this is where biosimilars come in. Biosimilars are extremely similar to the original drug they're designed to imitate, but much cheaper. This makes them more accessible to more people, meaning fewer fractures … better health … a better economy … and ultimately, a better quality of life. by DDx
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$Biosimilars and the Quiet Revolution in Medicine: A 62-year-old falls and fractures her wrist. This simple fracture reveals underlying osteoporosis, requiring lifelong (and expensive) medication. But this is where biosimilars come in. Biosimilars are extremely similar to the original drug they're designed to imitate, but much cheaper. This makes them more accessible to more people, meaning fewer fractures … better health … a better economy … and ultimately, a better quality of life.$
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The History of Hemophilia and Its Evolution Toward Preventive Care by DDx
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When the Doctor is the Bully: What can you do when your attending physician is a bully? We talk with two nurses, Melissa and Laura, about their experiences being bullied by a physician. Connie spoke with Carolyn Smith, an associate professor and associate dean of research, and author of "Standing Up Against Workplace Bullying Behavior: Recommendations From Newly Licensed Nurses" for insight. All three weigh in on standing up for yourself, calling out bullying, and sticking to your boundaries. by DDx
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Critical Learning on the Job: When is it okay to admit that you don’t know how to do something? Hear the story of Tamara Kuhn, a bedside telemetry nurse, who in a moment of crisis, used her problem-solving skills to keep her patient and herself safe. Connie spoke with Jill Clemmons, an acute care nurse practitioner, for insight. Jill discusses how taking care of yourself, preparation, and finding your why are key to navigating difficult situations. by DDx
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When Generic Symptoms Turn Serious: How do you know when generic symptoms are masquerading as something serious? Hear the story of Molly Lalonde, a pediatric nurse practitioner, who met a patient with an unexpected concern. To get another perspective, our host Connie Levie spoke with Dr. Raj Bhardwaj, an urgent care physician and host of the podcast DDx, about zooming out, respecting the concerns of your patients, and following your spidey sense. by DDx
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Raj recommends our new show: They Don't Teach That In Nursing School: While nursing school equips you with valuable knowledge and skills, it doesn't prepare you for the real-life challenges you’ll face on the floor. They Don't Teach That In Nursing School is your go-to guide, offering unique solutions to the unexpected problems you'll encounter as a nurse. This is a limited (four episode) series that launches on Nov 1st! Give it a listen! by DDx
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RAJ WANTS YOUR VOTE: DDx has been nominated for three Signal Awards and we need your support. Vote for us today and help us bring home that Signal Award! by DDx
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SPECIAL ANNOUNCEMENT FROM RAJ: Special announcement from Raj you won't want to miss! by DDx
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Non-Specific Symptoms Lead to Complicated Diagnosis: A busy parent experiences pain and weakness … but it’s normal for parents to be tired, right? In this episode of DDx, explore a case where non-specific symptoms lead to a very complicated diagnosis. by DDx
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A Lump on the Skull and the Misdiagnosis of a Rare Bone Disease: A lump on the skull of a young child, initially misdiagnosed with damaging effects, is later identified as a tragic rare bone disease. This episode of DDx highlights how crucial early diagnosis is for rare diseases. by DDx
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Metatarsal Bone Fractures and a Rare Bone Disease Hiding in Plain Site: The case was clear, until it wasn’t. Discover in this episode of DDx how leg and foot pain, low bone density, and repeated metatarsal bone fractures led to a rare bone disease diagnosis. by DDx
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$Metatarsal Bone Fractures and a Rare Bone Disease Hiding in Plain Site: The case was clear, until it wasn’t. Discover in this episode of DDx how leg and foot pain, low bone density, and repeated metatarsal bone fractures led to a rare bone disease diagnosis.$
Hypophosphatemia and the Secret Locked in a Child’s DNA: Children grow at their own pace. But in this episode of DDx, we explore how for one child diagnosed with hypophosphatemia, not hitting growth milestones was cause for alarm and key to unlocking a secret in their DNA. by DDx
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Overlooked Diagnostic Test for Blood Calcium Levels Leads to Rare Diagnosis: A person goes to the ED with the feeling their body is turning to stone. An overlooked health history note and diagnostic test for blood calcium levels complicate a rare disease diagnosis in this episode of DDx. by DDx
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Mysterious Arterial Calcifications and One of the World’s Most Unique Patients: An infant with arterial calcifications, but no congenital heart abnormality — how is that possible? Hear how doctors discovered the rare disease of one of the world’s most unique patients in this episode of DDx. by DDx
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The Many Questions and Few Answers of a Rare Disease Diagnosis: A toddler has episodes where his face changes, his arms shoot up, and he collapses. On this episode of the podcast, we address when rare disease diagnoses offer more questions than answers, and treatment options don’t lead to a cure. by DDx
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Classic Symptoms of Rare Diseases and Avoiding Diagnostic Odysseys

Classic Symptoms of Rare Diseases and Avoiding Diagnostic Odysseys

Description

Titles in the series (59)

More Episodes from DDx

Related podcast episodes