Though facing a rare disease, Oliver and his family found a diagnosis and hope at CHOC through the help of rapid whole-genome sequencing.
Genetics
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 more about their diagnoses – and connect with others who have similar conditions. The Dec. 3 and 4 “Connecting the Dots … Diagnosing and Treating Children and Adolescents with Medical Complexity” is geared for parents and their teens […]
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
Many children can be born with or develop one or more birth marks that can vary in size, color and shape, but do not usually pose any health risk. However, a certain number of darker spots (café au lait macules) or freckles on skin not exposed to the sun can often be the first indication […]
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 […]
The Role of Genetic Counselors
A genetic counselor is a medical professional and a patient advocate who is trained to counsel families about genetic diagnoses and their implications, a CHOC Children’s medical geneticist says. Genetic counselors can determine the risk of a genetic disorder to other family members in future pregnancies, and they provide comprehensive information, education and resources about […]
