Human Genetics Patient Stories

CHOP researchers have published the most comprehensive description of WAGR syndrome, which affects less than 450 people worldwide, including Miranda.

Kaitlyn, 12, has remained positive through multiple surgeries for the symptoms of a rare genetic disorder and treatment for an associated cancer.

With a rare genetic syndrome, 15-month-old Alex is followed by multiple specialists. When the appointments are at King of Prussia, his mother feels relief and certainty.

18-month-old Josie received a stem cell transplant to stop a rare and devastating genetic condition in its tracks.

Diagnosed before his first birthday with a rare disease that causes ongoing damage to cells and organs, Ethan quickly received the only treatment that prevents further disease.

As a baby, Josie received a liver transplant. This began a 10-year journey that included bonding with her donor’s family and a generous gift to help future transplant patients.

When a year of bloodwork failed to uncover the cause of Baron’s progressive developmental delays, his family turned to CHOP’s Mitochondrial Medicine for answers.

Facing a tough diagnosis together, CHOP doctors offer Dakota hope and support, while she helps them learn more about her rare mitochondrial disease.

Watson, 2, has been a patient of CHOP’s Metabolic Disease Program since he was 13 days old. Recently, North Smyrna Elementary School — where his mom is a teacher — held a “Rock Your RARE” wacky dress day to support Watson and raise awareness of rare diseases.