A 35-year-old with several children discovers she is having a twin pregnancy. This is happy news, until a potential abnormality in twin B is found. Twin B is measuring much smaller than twin A — almost a full 10 to 14 days behind — and there is fluid around the fetus. While it is too early to diagnose, it appears there is a brain abnormality. The patient, with a lot of apprehension and many questions, sees high-risk obstetrician Dr. Maeve Hopkins. Genetic testing is needed for decision-making — ...
Jan 25, 2023•12 min•Season 7Ep. 2
A pregnant person is referred early in pregnancy to high-risk obstetrician Dr. Stacey Ehrenberg after an ultrasound detects an abnormally developing placenta. Dr. Ehrenberg diagnoses the patient with a molar pregnancy; a placenta that forms into a benign tumor with the potential to become cancerous. While the molar pregnancy will not survive, the patient also has a viable intrauterine pregnancy. Faced with this diagnosis, Dr. Ehrenberg counsels her patient about the risks of continuing or discon...
Jan 18, 2023•11 min•Season 7Ep. 1
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.
Jan 11, 2023•2 min
It starts small. A slight pain in the foot, followed by an achy shoulder. There's some fatigue. The type of non-specific symptoms that often go ignored … until they can’t be anymore. A 37-year-old visits the family doctor, complaining of foot, shoulder and chest pain that progresses over weeks. And she's really tired. Otherwise, there’s nothing notable. She's just a busy parent. Being tired is normal, right? Sometimes that’s true, but in this case, this would prove to be a dangerous assumption. ...
Dec 07, 2022•12 min•Season 6Ep. 6
In 1964, Nancy, a 5-year-old, is having her evening bath when her parents discover she has a lump on the skull the size of a grapefruit. This would mark the onset of a mysterious and debilitating disease that researchers are still struggling to understand. Over the next 40 days, medical professionals struggled to discover what was causing the lump on the skull. Each test seemed to exacerbate the swelling in Nancy's neck. In hindsight, that was a big clue, but it took doctors a while to recognize...
Nov 30, 2022•11 min•Season 6Ep. 5
A patient in her mid-50s complains of foot and leg pain. She's post-menopausal with low bone density. A classic case of post-menopausal osteoporosis. Not exactly. And it won’t start to become clear until it gets to the point of her having repeated metatarsal bone fractures. Let’s go back a little. It’s 2005. Our patient visits her family doctor complaining of pain in her legs and feet. But the discomfort she's experiencing isn't your typical aches and pains associated with aging. “She develops a...
Nov 23, 2022•12 min•Season 6Ep. 4
A toddler is taken to his pediatrician because his parents are concerned he might be small for his age. The pediatrician diagnoses him with knock knees, but there’s no cause for alarm. Although the child doesn't have any other known medical conditions, something is happening in secret, inside his DNA that won’t be discovered until a diagnosis of hypophosphatemia is discovered some time later. And if this disease is ignored, it can quickly become deadly. But back to that first appointment. “At th...
Nov 16, 2022•12 min•Season 6Ep. 3
A 23-year-old presents to the emergency department with progressive symptoms. It starts with tingling in the fingertips that lead to leg cramps that turn into feeling like she’s turning into stone, frozen in one position with stabbing pain. And perhaps most troubling, she can't concentrate. In fact, the brain fog is so severe that she’s afraid to drive. Over the course of three days, her life has been turned upside down. She takes a taxi to the emergency department and is seen after waiting six ...
Nov 09, 2022•10 min•Season 6Ep. 2
An infant is born with no complications in a hospital in Los Angeles. Within days, that same baby will suddenly have mysterious arterial calcifications, making him one of the most unique patients in the world. After being released from the hospital following the birth, within five days, the infant’s parents discovered the child breathing quickly, sweating and unable to eat. The child is brought back to the hospital and quickly transferred to UCLA for specialized care. The situation quickly turns...
Nov 02, 2022•13 min•Season 6Ep. 1
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.
Jun 29, 2022•11 min•Season 5Ep. 5
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 answer may lie in genetic testing.
Jun 22, 2022•12 min•Season 5Ep. 4
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 new signs.
Jun 15, 2022•11 min•Season 5Ep. 3
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.
Jun 08, 2022•13 min•Season 5Ep. 2
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.
Jun 01, 2022•11 min•Season 5Ep. 1
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.
May 25, 2022•1 min
Genetic screening is vital for early diagnosis and management of genetic diseases. In this episode, dig into how it works, how it can help treatments reach patients sooner, and how it informs traditional treatments like physical therapy. Genetic screening works to determine which people might have a greater likelihood of developing a specific trait or disease, while genetic testing is concerned with testing an individual for a specific condition. One method of screening takes the form of a DNA-s...
Mar 23, 2022•9 min•Season 4Ep. 6
In this episode, we’ll dig into the different mechanisms by which gene therapy can potentially treat specific genetic diseases – such as amyotrophic lateral sclerosis, or ALS, and others. In 1993, a multinational group of scientists and doctors solved a medical mystery 150 years in the making . And they did it, in part, by examining the genealogy of a particular family in Vermont . In 1835, a farmer named Erastus Farr died of a mysterious illness characterized by a progressive weakening of his m...
Mar 16, 2022•11 min•Season 4Ep. 5
Adeno-associated viral vectors, or AAVs , are the tiny shells of viruses. And today they are the most common vessels for delivering gene-based therapies . In this episode, we’ll launch into the past, present, and future of AAVs. Imagine a rocket ship blasting off from Earth with cargo bound for a distant space station, and you have a pretty good idea what adeno-associated viral vectors are all about. But instead of ferrying hardware and supplies, AAVs carry genes. It’s an achievement nearly six ...
Mar 09, 2022•12 min•Season 4Ep. 4
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. It’s a future scientists have been working toward for years: How to treat complex health problems with gene therapy. And researchers have been making progress. Diagnoses once thought to be fatal are now being looked at in a new light . This is a welcome sight for physicians, caregivers, and – most of all – for the pa...
Mar 02, 2022•10 min•Season 4Ep. 3
Not all genetic variations are associated with threats or harms to human health. Some even protect us, such as genetic variations that have been shown to make bones harder or the heart more impervious to disease . But while some genetic variations are positive, others can cause or contribute to disease. In this episode, we answer the question of how does gene therapy work, and learn how gene therapy replaces and repairs certain gene variants, and is changing the trajectory of genetic diseases. F...
Feb 23, 2022•10 min•Season 4Ep. 2
In this episode, we explore some of the major scientific findings – like discovering DNA – that set the stage for the development of gene therapy and its groundbreaking potential when it comes to the treatment of genetic diseases. The very idea of gene therapy wouldn’t be imaginable had two pairs of pioneering scientists not bonded decades earlier. In 1951, a young chemist named Rosalind Franklin and her colleague Maurice Wilkins at King’s College in London were using X-ray crystallography to tr...
Feb 16, 2022•12 min•Season 4Ep. 1
Take a deep dive into one of the most awe-inspiring medical innovations of our time: gene therapy. It's comparable to some of the greatest scientific explorations ever undertaken. Like landing astronauts on the moon or sending spacecraft toward the edges of our galaxy. Except, instead of probing the vastness of outer space, 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 m...
Feb 09, 2022•1 min
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. Head to Figure1.com/ddx where you can find full show notes, photos, and speaker bios.
Sep 08, 2021•8 min•Season 3Ep. 6
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 Head to Figure1.com/ddx where you can find full show notes, photos, and speaker bios.
Sep 01, 2021•12 min•Season 3Ep. 5
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. Head to Figure1.com/ddx where you can find full show notes, photos, and speaker bios.
Aug 25, 2021•11 min•Season 3Ep. 4
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. Head to Figure1.com/ddx where you can find full show notes, photos, and speaker bios.
Aug 18, 2021•9 min•Season 3Ep. 3
“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. Head to Figure1.com/ddx where you can find full show notes, photos, and speaker bios.
Aug 11, 2021•9 min•Season 3Ep. 2
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. Head to Figure1.com/ddx , where you can find full show notes, photos, and speaker bios.
Aug 03, 2021•12 min•Season 3Ep. 1
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. Head to Figure1.com/ddx , where you can find full show notes, photos, and speaker bios.
Jul 28, 2021•2 min
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.
Jul 08, 2020•13 min•Season 2Ep. 7
