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Native Twin Girls Overcome Rare Disease Challenges

2/18/2025

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Summary

Story summary

In a poignant tale of resilience, two 22-month-old Native American twin girls were diagnosed with familial glucocorticoid deficiency (FGD) linked to a rare NNT gene variant. Their journey to diagnosis was fraught with obstacles, including geographic isolation and financial barriers. Yet, through the unwavering support of family, healthcare providers, and the Indian Health Service, they received the care they desperately needed.

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Story summary

In a poignant tale of resilience, two 22-month-old Native American twin girls were diagnosed with familial glucocorticoid deficiency (FGD) linked to a rare NNT gene variant. Their journey to diagnosis was fraught with obstacles, including geographic isolation and financial barriers. Yet, through the unwavering support of family, healthcare providers, and the Indian Health Service, they received the care they desperately needed.