DDx

May 29 2024 63 ep. 9 mins 2.6k
DDx Podcast artwork

A podcast about how doctors think. Presented by Figure 1, the knowledge-sharing and collaboration app for physicians and healthcare professionals. Learn more at Figure1.com/ddx

  Health & Fitness  Education
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Giving New Life Through X-linked Hypophosphatemia Research

May 29 2024 10 mins  
After a lifetime of treating her rare bone disease, X-linked hypophosphatemia, a patient is at the end of her rope. She’s in pain, frustrated, and nothing seems to help. So when a clinical trial presents itself, her doctor isn’t sure she’ll want to participate. While the decision to participate is surprising, the results of the clinical trial are astonishing.

The Bumpy Road to Hypoparathyroidism Diagnosis and Treatment

May 22 2024 11 mins  
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 her hands cramp and lock onto the steering wheel … Her story takes many wrong turns, but eventually she is diagnosed with hypoparathyroidism, a rare bone disease, and finds an experimental treatment that

Unexpected Therapies for Fibrodysplasia Ossificans Progressiva Offer New Hope

May 15 2024 10 mins  
A 9-year-old cannonballs into the shallow end of the pool. There’s a stab of pain through her hip. What seems like just a bump takes a complicated turn. After discovering a bone growth, the child is diagnosed with fibrodysplasia ossificans progressiva. This extremely rare bone disorder has a devastating impact, but thanks to unexpected areas of research, patients have new reasons

Overcoming the Odds of Prenatal Hypophosphatasia

May 08 2024 10 mins  
During a 20-week ultrasound appointment, there’s devastating news: the baby’s bones are broken and bowed. Despite this, the baby is born and does well. After testing, all signs point to hypophosphatasia. 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 9 mins  
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.

Biosimilars and the Quiet Revolution in Medicine

Apr 24 2024 10 mins  
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 b

How One Child Overcame Hemophilia Complications Despite Incredible Barriers

Apr 17 2024 10 mins  
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.

Unraveling How a Hemophilia Diagnosis Went Undetected for 60 Years

Apr 10 2024 9 mins  
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

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

Apr 03 2024 11 mins  
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 f

The History of Hemophilia and Its Evolution Toward Preventive Care

Mar 27 2024 11 mins  
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