Genetic Testing Results Reveal Rare Disease

Описание: A family waits anxiously for genetic testing to explain their children's congenital cataracts, microcephaly, and baffling symptoms. Doctors struggle to diagnose rare Cockayne syndrome, revealing the emotional toll of living with medical mystery.

Mystery Diagnosis S08 E62
0:00 - Mystery Diagnosis Cases Begin
4:00 - Samantha’s Congenital Cataracts Discovered
7:00 - Pediatric Neurologist Finds Microcephaly
10:00 - MRI Brain Scan Shows Nothing
13:00 - Genetic Testing For Rare Diseases
16:00 - Cockayne Syndrome Diagnosis Confirmed
20:00 - Living With Baffling Symptoms
24:00 - Eileen’s Strange Illness Emerges
30:00 - Spasmodic Dysphonia Revealed
36:00 - Finding Hope Through Treatment

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