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Rare disease day

Patient Story

One in a million: an extremely rare and unpredictable condition

A young chlld and her family face an extremely rare and unpredictable condition.

Patient Story

Hope for a rare genetic disease

Addison Weith’s genes put her at risk for health troubles. Her family’s vigilance during the pandemic has kept her healthy for the longest stretch ever.

Patient Story

Haylie’s mystery, solved

The Schneider family faced profound questions about their daughter’s developmental differences. Advances in genetic testing finally revealed answers.

Patient Story

‘They are so blessed’

Parents of children with rare genetic diseases celebrate their daughters' unique gifts.