DDx

Health & Fitness
**DDx**

DDx is medical shorthand for differential diagnosis, and this is a podcast about how doctors think and learn on the job. It’s hosted by Dr. Raj Bhardwaj and is produced by Figure 1, the global knowledge-sharing platform for medicine.

Latest Episodes:

The Bumpy Road to Hypoparathyroidism Diagnosis and Treatment May 22, 2024

Show notes

It’s a summer day and a 45-year-old is out for a drive. As she accelerates her stick-shift car, she starts to experience familiar, and scary, symptoms: facial tingling, numbness around her mouth, and a sharp pain in her hands. Her hands cramp and lock onto the steering wheel. Fortunately, she makes it home safely, but it will take many wrong turns and the help of Dr. Google to determine a diagnosis of hypoparathyroidism, a rare bone disorder. Dr. Michael Mannstadt, the Chief of the Endocrine Unit at Massachusetts General Hospital and Associate Professor in Medicine at the Harvard Medical School in Boston, shares this patient’s story and how a clinical trial changed this patient’s life.

Unexpected Therapies for Fibrodysplasia Ossificans Progressiva Offer New Hope May 15, 2024

Show notes

A local pool in the summer is teeming with kids. A 9-year-old does a cannonball into the shallow end. As she surfaces, a stab of pain shoots through her hip. As days pass, what seems like a straightforward bump takes a complicated turn. Dr. Edward Hsiao, an endocrinologist and Director of the UCSF Metabolic Bone Clinic at the University of California, describes how after discovering a new bone growth at the site of the pain and several rounds of major (and unsuccessful) interventions, the child is diagnosed with fibrodysplasia ossificans progressiva. This extremely rare bone disorder has a devastating impact on a patient’s life. But thanks to unexpected areas of research, patients have new reasons to hope.

Overcoming the Odds of Prenatal Hypophosphatasia May 08, 2024

Show notes

In an examination room, an ultrasound technician moves a wand over a patient’s belly. The patient is 20 weeks pregnant. Usually, these appointments bring good news, but the news this day is devastating: the baby’s bones are broken and bowed. Despite this, the baby is born and does well. After testing, all signs point to hypophosphatasia for Dr. Eric Rush, a clinical geneticist at Children’s Mercy Hospital and the University of Kansas Medical Center, and an Associate Professor of Pediatrics at the University of Missouri-Kansas City, who shares this patient’s story. And thanks to the life-changing treatment of enzyme replacement therapy, today, this child and many others with this rare bone disease are living happy, healthy lives.

The Power and Potential of GACI Clinical Trials May 01, 2024

Show notes

In a bustling maternity ward, an infant has a case of newborn hiccups. But this quickly transforms into labored breathing. A chest X-ray unravels an unexpected discovery – calcium deposits around her shoulder. Follow-up tests paint a complex picture, revealing narrowed blood vessels and widespread calcifications. Genetic testing confirms 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 as Dr. David Weber, a pediatric endocrinologist and the Medical Director for the Center for Bone Health at the Children’s Hospital of Philadelphia, shares, a revolutionary clinical trial could potentially transform this child’s life and the lives of others with this disease.

Biosimilars and the Quiet Revolution in Medicine Apr 24, 2024

Show notes

On a December morning, a 62-year-old goes for a walk. There’s snow on the ground and she loses her balance. She falls and fractures her wrist. This simple fracture reveals underlying osteoporosis, requiring lifelong (and expensive) medication. But as you’ll learn from Dr. Richard Eastell, an endocrinologist and professor of Bone Metabolism at the University of Sheffield, this is where biosimilars come in. Biosimilars are extremely similar — hence the name — to the original biological drug they’re designed to imitate. The excitement around biosimilars is that they’re cheaper, making them more accessible to more people, meaning fewer fractures … better health … a better economy … and ultimately, a better quality of life.

How One Child Overcame Hemophilia Complications Despite Incredible Barriers Apr 17, 2024

Show notes

A 5-year-old child and his parents boarded a plane heading for a new life. They were Syrian refugees, who fled conflict in their country and then lived a difficult life in a refugee camp. Now they were heading to Canada. But soon after arriving, there’s a problem. The child has hemophilia and due to hemophilia complications, a minor injury while traveling became a major concern. Add to this a language barrier and trying to understand a new culture. Dr. Robert Klaassen, a pediatric hematologist and lead of the Comprehensive Hemophilia Care Clinic at Children’s Hospital of Eastern Ontario in Ottawa, Canada, shares his experience working with a family who overcame incredible barriers and the lessons learned along the way.

Unraveling How a Hemophilia Diagnosis Went Undetected for 60 Years Apr 10, 2024

Show notes

It was supposed to be a simple, low-risk procedure, but for this 61-year-old patient with undiagnosed hemophilia, undergoing a lithotripsy for kidney stones proved to be anything but. The patient was born in the 1950s in Taiwan, when many people in the country had never heard of the disease. So, despite signs throughout his life, the patient’s hemophilia diagnosis evaded him for decades. Dr. Yeu-Chin Chen, a hematologist at the Tri Service General Hospital’s Hemophilia Care and Research Center in Taipei, Taiwan, shares this patient’s journey and how doctors should be on the lookout for signs of hemophilia, while understanding that symptoms can vary from patient to patient.

To Play or Not to Play, the Challenges of Managing Pediatric Hemophilia Apr 03, 2024

Show notes

A young child living with severe hemophilia is adopted by a family in the United States. Prior to his adoption, due to a lack of resources and other challenges, his hemophilia was not properly managed. Dr. Meera Chitlur, a pediatric hematologist and the director of the Hemophilia Treatment Center at the Children’s Hospital of Michigan in Detroit, has treated this patient since he first came to the U.S. As he grew older, like many children, he wanted to play sports. But for people with hemophilia, participating in sports brings great risk. Dr. Chitlur shares how together with the patient and his family, they navigated the challenges of growing up with hemophilia and how new treatment options for pediatric hemophilia have opened up a whole new world for kids living with the disease.

The History of Hemophilia and Its Evolution Toward Preventive Care Mar 27, 2024

Show notes

About 40 years ago a mother brought her 6-month-old child into the hospital. He was covered in bruises. Dr. Victor Blanchette, a pediatric hematologist at the Hospital for Sick Children in Toronto, Canada, met the patient that day and, following a severe hemophilia diagnosis, has treated the patient ever since. Dr. Blanchette recounts how during the patient’s childhood in the 80s, the approach to treating hemophilia was reactive, not proactive. This meant that normal childhood activities could lead to devastating bleeds. During this episode, we walk through the history of hemophilia and how its evolution toward preventive care has had an incredible impact on this patient and so many others.

Undoing the Long-Held Misunderstandings of Hemophilia in Women Mar 20, 2024

Show notes

A 30-year-old was in labor with her first child. Everything was going to plan … until it wasn’t. Dr. Azusa Nagao, a hematologist at Ogikubo Hospital in Tokyo, Japan, shares a case that illustrates how historically it was thought that women and people assigned female at birth could only be carriers of the disease, not have the disease themselves. This misunderstanding of hemophilia in women has led to women going undiagnosed and untreated with severe repercussions. For the patient in this story, it meant a frightening and dangerous birth experience that put her and her child at risk. Dr. Nagao also outlines efforts to educate patients and physicians about hemophilia, what to look for, and how to treat it.

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