After irregular freckles lead to 4-year-old Jax’s NF1 diagnosis, more than a dozen CHOC specialists teamed up to treat her.
Genetics
Leveraging technology to bring answers and hope for parents of critically ill children with rare diseases
Though facing a rare disease, Oliver and his family found a diagnosis and hope at CHOC through the help of rapid whole-genome sequencing.
A lifelong battle with a rare disease: Caleb’s story
His mother’s keen eye and a pediatrician’s intuition ultimately led to an unexpected diagnosis of MPS Type II.
Conference to Connect Medically Complex Teens, Parents with Peers
An upcoming CHOC conference will help teens with medically complex connective tissue disorders and their parents learn about their diagnoses.
Trisomy Awareness Month: What Parents Should Know
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 […]
Neurofibromatosis Type 1: What Parents Should Know
A CHOC geneticist discusses neurofibromatosis type 1 (NF1), including what parents can look for and how it’s treated.
Preventing & Screening For Birth Defects
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 […]
