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 tenacious’

Kaitlyn Seykora baffled medical professionals all her life. Just last month, a geneticist provided a diagnosis—one so rare, not much is known about it.

Patient Story

‘A beacon of hope’

Katriona VanDoorne has battled cystic fibrosis since birth. New medicine and genetic discoveries finally allow her to breathe easy and look toward better tomorrows.

Patient Story

Uncommon resolve

Pompe disease had no treatment when doctors diagnosed Tasha Veinbergs. Treatment arrived and her future brightened.

Patient Story

‘An unbreakable spirit’

Born with a bone disorder that leaves her vulnerable to fractures, 9-year-old Addilyn won’t let life slow her down.

Patient Story

‘A completely different baby’

Born with a rare and life-threatening immune system disorder, baby Emmett gets a new start with a bone marrow transplant.

Patient Story

The best little man

This 11-year-old gained great wisdom from the seat of a wheelchair. His indomitable spirit and quick smile lift up all those he encounters.

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.

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