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.
Hypoplastic Left Heart Syndrome and a Trip Across State Lines
Pregnancy Reduction in a Twin Pregnancy
The Complicated Decision-Making of a Molar Pregnancy and an Intrauterine Pregnancy
Abortion as Healthcare (a Miniseries)
Non-Specific Symptoms Lead to Complicated Diagnosis
A Lump on the Skull and the Misdiagnosis of a Rare Bone Disease
Metatarsal Bone Fractures and a Rare Bone Disease Hiding in Plain Site
Hypophosphatemia and the Secret Locked in a Child’s DNA
Overlooked Diagnostic Test for Blood Calcium Levels Leads to Rare Diagnosis
Mysterious Arterial Calcifications and One of the World’s Most Unique Patients
Paediatric Seizures and The Race Against Time
Diagnosing a Complex and Mysterious Form of Paediatric Epilepsy
Mapping a Complicated Genetic History of Epilepsy
The Many Questions and Few Answers of a Rare Disease Diagnosis
Classic Symptoms of Rare Diseases and Avoiding Diagnostic Odysseys
DDx Returns for Season Five
The Importance of Genetic Screening
ALS, DMD and Adapting Treatment Mechanisms for Genetic Variations
Gene Therapy in Action: Adeno-Associated Viral Vectors
The Future of Gene Therapy and Genetic Diseases
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