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What Rare Disease Day Means for My Son With a PIGN Gene Mutation

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themighty.com

The last day in February is Rare Disease Day — a day designated to raise awareness for people affected by rare diseases. We never knew such a day existed until we had a personal reason to celebrate and share.

Why is it important? Hardly anyone knows of Teddy’s diagnosis. That means there’s no research, no funding for research and no experts on this diagnosis — essentially no resources specific to his disorder.

The one resource specific to his diagnosis is our small group of other families affected by the same or similar PIGN mutations.

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