New diagnosis
You have been told that your child has or may have a condition called CHARGE syndrome. Your baby probably has multiple medical issues and may still be in the hospital. This is a scary time for you and your family. All parents have questions about the diagnosis and what it means for their child and their family.
You may have some difficult days ahead of you. But please remember, there are many of us who have been there, done that. Please do not hesitate to come to the CHARGE Syndrome Foundation for advice and support.
Why do they think my child has CHARGE?
Your child likely has several birth defects and may already have had some genetic testing, such as chromosomes or a microarray. If those tests have not provided the answer and the baby has coloboma, choanalatresia, or distinctive ear findings, CHARGE syndrome should be considered. Most babies with CHARGE also have other problems (heart, trachea, esophagus, etc.). Your medical geneticist should be able to tell you why the diagnosis of CHARGE is being considered.
What is CHARGE syndrome?
CHARGE is a recognizable genetic syndrome most often caused by mutations in the CHD7 gene. It occurs in about 1 in every 10,000 births. Most individuals with CHARGE have distinctive features, including coloboma, choanalatresia, and/or ear abnormalities, along with other birth defects. More information on features here.
Why is a diagnosis important?
A diagnosis provides an explanation for why your child has multiple issues. It tells the doctors what other potential problems to look for in your baby and gives you information about what caused your baby’s problems and whether it could happen again. How do they make a diagnosis? Confirming a diagnosis of CHARGE is requires exams by various specialists (genetics, ophthalmology, cardiology, ENT, audiology), imaging (kidney ultrasound, brain & inner ear MRI) and tests (CHD7 DNA testing). A medical geneticist should put together all of the information to determine if CHARGE is the best diagnosis for your child.
