CHARGE Syndrome

CHARGE Syndrome is among one of the most common diagnoses we see in Kentucky.  According to CHARGE Syndrome Foundation, CHARGE is prevalent in 1 birth out of every 10,000-15,000 live births. (https://www.chargesyndrome.org/about-charge/overview/)

In 1981, the letters in CHARGE each represented a characteristic when CHARGE was being seen as a new cluster of features.  Below spells out what each letter used to stand for; though these features are no longer solely used in making the diagnosis.

C = Coloboma of the eye
H = Heart defects
A = Atresia of the choanae
R = Restriction of growth and development
G = Genitourinary abnormalities
E = Ear abnormalities and deafness

The CHARGE Syndrome Foundation is an organization that was established to help increase awareness and knowledge, provide support groups, and network among families and professionals. They also have a great overview of what CHARGE is, signs and symptoms, genetics, and more on their Overview Page. You can also read more about their family support group on our webpage under *family support groups – CHARGE*.

Kentucky is fortunate enough to have a CHARGE liaison that provides resources, connects families, connects through personal experiences, and can talk more to how the CHARGE Syndrome Foundation has supported their family.  For Kentucky, that person is Sarah Cawthon and she can be reached via email at: cawthonmd@yahoo.com 

To learn more about Sarah, you can access her profile on the CHARGE website.

Locally, Cincinnati Children’s Hospital established a one of a kind CHARGE Center.  The staff at the CHARGE Center help families coordinate multiple appointments with doctors and specialists.  The Ronald McConald House is next to Cincinnati Children’s and can provide overnight accommodations for families.  For more information about the Cincinnati Children’s CHARGE Center, visit their website: Cincinnati Children’s CHARGE Center