Human Genetics Patient Stories
21 - 30 of 32
Kallmann Syndrome: Jill’s Story
When traditional tests were inconclusive, Jill turned to the Roberts Individualized Medical Genetics Center for a diagnosis of Kallmann syndrome.
Mitochondrial Disease and Eosinophilic Esophagitis: Ryan’s Story
Ryan, 12, has mitochondrial disorder and eosinophilic esophagitis. With the help of specialists, he’s able to attend classes at school.
Mitochondrial Depletion: Louie’s Story
Louie began suffering from a form of mitochondrial disease when he was 11. Now 18, symptoms of his disease have been reduced through exercise.
Mitochondrial Disease: Matthew and Joshua’s Story
Matthew, 46, and Joshua, 42, are brothers who participate in studies that may lead to new treatments for their condition, mitochondrial disease.
Mitochondrial Disease: Patrick's Story
Patrick is cared for at Children’s Hospital of Philadelphia for mitochondrial disease. His parents have become committed supporters of research.
Mitochondrial Disease: Lincoln's Story
Specialists at Children’s Hospital of Philadelphia diagnosed Lincoln, 5, with mitochondrial disease and constantly personalize his care.
Mitochondrial Disease: Juliet's Story
Juliet is the first patient in the world to be diagnosed with a rare form of mitochondrial disease. The breakthrough discovery led to the diagnosis of 80 additional patients worldwide.
Individualized Medical Genetics: James’ Story
Genetic tests revealed that James had two rare, unrelated syndromes. His treatment plan was adjusted to address his unique needs, and he is now thriving.
Individualized Medical Genetics: Connor’s Story
Genetic testing at Children’s Hospital of Philadelphia found a mutation in Connor’s STAT3 gene, which led to a tailored treatment plan.
Individualized Medical Genetics: Camryn’s Story
Genetics experts at Children’s Hospital of Philadelphia have helped Cortney and Ryan identify their daughter’s rare genetic mutation, leading to improved care.