After irregular freckles lead to 4-year-old Jax’s NF1 diagnosis, more than a dozen CHOC specialists teamed up to treat her.
Dr. Neda Zadeh
Though facing a rare disease, Oliver and his family found a diagnosis and hope at CHOC through the help of rapid whole-genome sequencing.
Lily’s sister, Makenna loved her before she was even born. Seeing the way CHOC’s rehab team members cared for Lily inspired her to give back.
A CHOC geneticist discusses neurofibromatosis type 1 (NF1), including what parents can look for and how it’s treated.
Genetic counselors can determine the risk of a genetic disorder to other family members in future pregnancies, and can provide resources.