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.
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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