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

The miraculous Marley

An energetic 6-year-old is leading the way in treatment for a rare genetic mutation.

Patient Story

The amazing brothers Blain

Daxton, 2, and Sawyer, 4, battle a rare genetic disease with a team of specialists and the calming power of music.

Patient Story

Finding answers and hope

Genetic testing helps the family of a Michigan boy dig deeper into his unique health challenges.

Patient Story

Helping Gabby thrive

Genetic testing that pinpointed a rare disorder helped a Michigan couple give their daughter the tools she needs to blossom.

Patient Story

‘A little bit of hope’

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

‘Live with a positive mindset’

Though they live under the shadow of Huntington's disease, the Shurlow family runs toward a hopeful future.

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.