Texas mom diagnosed with rare disorder after years of bizarre symptoms
Houston Chronicle • • health
Key Points:
- Tabatha Spacek endured over 20 years of severe abdominal pain, mood swings, and hallucinations without a diagnosis, facing frequent medical dismissals and misdiagnoses before discovering she had acute intermittent porphyria, a rare genetic disorder.
- Spacek’s diagnosis came after investigating her late grandmother’s medical records, revealing a hereditary condition that explained her symptoms and those of several family members.
- Acute intermittent porphyria affects the body’s heme production, leading to toxin buildup that causes neurological and physical symptoms; it is difficult to diagnose due to the need for specific urine tests during attacks.
- Treatment with monthly givosiran injections and heme therapy has significantly reduced Spacek’s symptom severity, though chronic pain remains from years of unmanaged attacks.
- Experts emphasize the importance of considering porphyria in patients with unexplained symptoms to avoid delayed diagnoses, and Spacek hopes increased awareness will help others receive timely care.
