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 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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, 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.

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.