DDx

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...

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....

How One Child Overcame Hemophilia Complications Despite Incredible Barriers

Unraveling How a Hemophilia Diagnosis Went Undetected for 60 Years

To Play or Not to Play, the Challenges of Managing Pediatric Hemophilia

The History of Hemophilia and Its Evolution Toward Preventive Care

Undoing the Long-Held Misunderstandings of Hemophilia in Women

The Ups and Downs of Hemophilia Treatment

Go Inside the Minds of Doctors Who Specialize in Hemophilia

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,...

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...

Trusting Your Gut

What do you do when you know something is wrong with a patient, but don’t have the data to back it up? Hear the story of Diana Struthers Stanton, a nurse whose instinct was telling her something was wrong with...

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...

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...

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Hypoplastic Left Heart Syndrome and a Trip Across State Lines

When an ultrasound discovers something unexpected — hypoplastic left heart syndrome, a major fetal cardiac anomaly — a patient is put on a cross-state journey that she never planned for.

Pregnancy Reduction in a Twin Pregnancy

A patient discovers she is having a twin pregnancy … but one twin will not survive. A decision must be made: have a pregnancy reduction or move forward knowing her life and the remaining twin are at risk.

The Complicated Decision-Making of a Molar Pregnancy and an Intrauterine Pregnancy

Faced with an abnormal placenta and numerous challenges, including a molar pregnancy, a patient endeavors to carry her pregnancy … until at 19 weeks, everything changes.

Abortion as Healthcare (a Miniseries)

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...

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.

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.

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.

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.

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.

Paediatric Seizures and The Race Against Time

A toddler’s parents noticed him having muscle twitches before falling asleep and when waking up. They’re told nothing is wrong. This episode of DDx reminds us that sometimes when you hear hoofbeats, it really is a zebra.

Diagnosing a Complex and Mysterious Form of Paediatric Epilepsy

A child was referred to a specialist on the suspicion he has pediatric epilepsy, a complicated and fickle condition. In this episode of DDx, we explore a case with several peculiar symptoms and diagnostic test results that baffled doctors. The...

Mapping a Complicated Genetic History of Epilepsy

A 5-month-old was brought to the emergency department with staring episodes. In this episode of DDx, we’re reminded that even when initial tests come back normal, keep thinking about the patient in front of you and probe parents for any...

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.

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.

DDx Returns for Season Five

Rare diseases are … rare … which makes even textbook cases difficult to diagnose. In this season, we’ll talk about the patterns and characterizations of a rare paediatric disorders.

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.

ALS, DMD and Adapting Treatment Mechanisms for Genetic Variations

Understand the different mechanisms by which gene therapy can potentially treat specific genetic diseases – such as amyotrophic lateral sclerosis, or ALS, and Duchenne muscular dystrophy, or DMD.

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.

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.

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.

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.

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...

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...

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

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...

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.

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.

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...

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...

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 Figure1.com/ddx, where you can find full show notes, photos, and speaker bios.

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 Figure1.com/ddx, where you can find full show notes, photos, and speaker bios.

Pattern Recognition Can Save a Life

A dermatologist is paged to examine a rare condition. But something doesn’t add up. Head to Figure1.com/ddx, where you can find full show notes, photos, and speaker bios.

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 Figure1.com/ddx, where you can find full show notes, photos, and speaker bios.