After irregular freckles lead to 4-year-old Jax’s NF1 diagnosis, more than a dozen CHOC specialists teamed up to treat her.
Leveraging technology to help 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.
Big Sister Gives Back to Honor CHOC
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.
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.
Genetics of Clefting
In this CHOC Radio segment, Dr. Jason Toranto and Dr. Neda Zadeh discuss genetics and clefting (clip lip and/or palate).
The Role of Genetic Counselors
Genetic counselors can determine the risk of a genetic disorder to other family members in future pregnancies, and can provide resources.