Merritt Smith experienced seizures and missed developmental milestones. Genetic testing revealed the cause—a missing chunk of a chromosome.
Groundbreaking research unravels a mysterious genetic mutation affecting little Marley Berthoud. And offers hope for her future.
Resilient and fun-loving, Kingston battles spinal muscular atrophy with help from physical therapy and a breakthrough medication.
After her brother dies of Duchenne muscular dystrophy, a woman ponders whether to get genetic testing.
Parents of children with rare genetic diseases celebrate their daughters' unique gifts.
Little Hayden, born with two rare disorders, might be the first of his kind. His parents treasure his uniqueness.
Born with an ultra-rare condition that caused her brain to outgrow her skull, little Kenzie Bennett is 'still smiling at life.'
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