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.
Born with a rare and life-threatening immune system disorder, baby Emmett gets a new start with a bone marrow transplant.
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.
Meet baby Owen, the first child in Michigan to benefit from a lightning-fast whole genome sequencing program.
The Schneider family faced profound questions about their daughter’s developmental differences. Advances in genetic testing finally revealed answers.
Merritt Smith experienced seizures and missed developmental milestones. Genetic testing revealed the cause—a missing chunk of a chromosome.
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.
Kaitlin Frederick's first baby died. Red flags and skilled intervention saved her second baby's life.
Groundbreaking research unravels a mysterious genetic mutation affecting little Marley Berthoud. And offers hope for her future.
Nine-year-old Emma, one of the few girls to have hemophilia, leads an active life with help from regular infusions.
Resilient and fun-loving, Kingston battles spinal muscular atrophy with help from physical therapy and a breakthrough medication.
Baby Mistha conquers a rare and deadly disease with help from an experimental drug and her mom's bone marrow.
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.
