Could genetic testing help diagnose Neimann-Pick type C (NPC)? Watch Emmy’s story
Test for NPC
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Could genetic testing help diagnose Neimann-Pick type C (NPC)? Watch Emmy’s story
654 просмотра · 12 дней назад
Test for NPC
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654 просмотра · 12 дней назад
After months of uncertainty, early genetic testing provided the answers Emmy’s family desperately needed and gave them something invaluable: time.
In this heartfelt story, Emmy's mom Destiny shares how genetic testing helped them understand her early infantile-onset Niemann-Pick type C (I-NPC) diagnosis, connect with the right specialists, and begin building a care team before her symptoms worsened over time. She also discusses the importance of trusting your instincts as a parent, advocating for your child, and seeking second opinions when necessary.
Emmy’s story serves as an important reminder that families facing a rare disease are not alone.
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