A HealthBeat Special Series

Rare Diseases

One in 10 people in the United States has a rare disease. Half of those affected by rare diseases are children. There are more than 7,000 rare diseases identified, and many more being discovered as advances are made in the field of genomics. Learn about genetic conditions and hear from people who see only beauty in differences.

Health Beat Special Series
Patient Story

She’s one of a kind

Groundbreaking research unravels a mysterious genetic mutation affecting little Marley Berthoud. And offers hope for her future.

Patient Story

‘This is the good stuff’

Nine-year-old Emma, one of the few girls to have hemophilia, leads an active life with help from regular infusions.

Patient Story

‘He just wins over hearts’

Resilient and fun-loving, Kingston battles spinal muscular atrophy with help from physical therapy and a breakthrough medication.

Patient Story

‘An army of angels’

Baby Mistha conquers a rare and deadly disease with help from an experimental drug and her mom's bone marrow.

Patient Story

‘Is he going to make it?’

The Ramirez children are all impacted in some way by hemophilia and other bleeding disorders. Through a 17-year relationship with their doctor, they've learned to thrive.

Patient Story

‘They are so blessed’

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

Patient Story

Micah’s magic rods

"Truly amazing, life-changing" magnetic rods help 9-year-old avoid surgery in her battle against a debilitating spinal condition.

Patient Story

A crowning moment for Huntington’s disease

Shelby Lentz is competing for the Miss Michigan title. But since her diagnosis, she's now competing in a race against time.

Patient Story

New study scrutinizes birth defects

Michigan family hopes their participation in long-term, international research will shed light on their young daughter's medical troubles.

Patient Story

‘The most perfect little guy’

Sweet and smiley Camden Cardona has a rare genetic disease―tuberous sclerosis―and a team of experts to help him.

Patient Story

A first-ever therapy for spinal muscular atrophy

“Nervous and kind of excited,” 14-year-old Malorie Fox prepares to receive a new treatment.

Patient Story

You’re one in a billion, baby boy

Little Hayden, born with two rare disorders, might be the first of his kind. His parents treasure his uniqueness.

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