After irregular freckles lead to 4-year-old Jax’s NF1 diagnosis, more than a dozen CHOC specialists teamed up to treat her.
Though facing a rare disease, Oliver and his family found a diagnosis and hope at CHOC through the help of rapid whole-genome sequencing.
His mother’s keen eye and a pediatrician’s intuition ultimately led to an unexpected diagnosis of MPS Type II.
An upcoming CHOC conference will help teens with medically complex connective tissue disorders and their parents learn about their diagnoses.
In honor of National Trisomy Awareness Month, we spoke to a team of genetic counselors from the CHOC Metabolic Clinic. ‘Tri’ refers to three, and ‘somy’ refers to ‘body’ or in this case chromosome- therefore, individuals with a trisomy have an extra chromosome in some or all of their cells, which affects development. Trisomies can […]
A CHOC geneticist discusses neurofibromatosis type 1 (NF1), including what parents can look for and how it’s treated.
In honor of Birth Defects Prevention Month, we spoke to Dr. Neda Zadeh, a CHOC geneticist and the associate director of the Molecular Diagnostic Laboratory at Genetics Center. Dr. Zadeh specializes in caring for patients with developmental disabilities, genetic disorders and birth defects. Q: What can parents do to prevent birth defects? A: The cause […]