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

When every second counts

Meet baby Owen, the first child in Michigan to benefit from a lightning-fast whole genome sequencing program.

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

Merritt’s mystery

Merritt Smith experienced seizures and missed developmental milestones. Genetic testing revealed the cause—a missing chunk of a chromosome.

Patient Story

In a bubble, a little girl thrives

Jada's team goes to great lengths to keep her safe from germs, while hoping a thymus transplant will at last help her develop an immune system.

Patient Story

‘I’m just thankful she’s alive’

Kaitlin Frederick's first baby died. Red flags and skilled intervention saved her second baby's life.

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.