Naty Tomas struggled for years to understand her daughter Nora’s mysterious health issues, which included paralysis and intense episodes. Despite normal test results, she documented Nora’s symptoms on video, eventually leading to a breakthrough. After extensive genome sequencing, Nora was diagnosed with Tango2 Deficiency Disorder (TDD). The lack of awareness from doctors initially was disheartening, but discovered connections to TDD through an American association brought Tomas hope. Research on the Tango gene group reveals potential insights into cellular functions, paving the way for better treatments for rare genetic disorders such as TDD.
Naty Tomas recorded her daughter Nora’s attacks, which eventually helped gain credibility with the doctors, despite their initial treatment of her as neurotic.
After enduring various misdiagnoses, Nora was finally diagnosed with Tango2 Deficiency Disorder, a genetic condition that left her without a proper treatment until help came from a U.S. association.
The discovery of the Tango gene group in 2006, which plays a pivotal role in cellular processes, set the stage for understanding disorders like Nora's.
Despite the challenges brought by Tango2 Deficiency Disorder, hopes for better understanding and treatment are rising thanks to ongoing research.
#genetic-disorder #medical-diagnosis #tango2-deficiency-disorder #noras-story #healthcare-challenges
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