What is CHARGE Syndrome?
CHARGE syndrome is a recognizable genetic syndrome with a known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. CHARGE syndrome is correlated with a genetic mutation to CHD7 and the prevalence of CHARGE syndrome is 1:10,000-1:15,000 live births.
Babies with CHARGE syndrome are often born with life-threatening birth defects. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing loss, vision loss, and balance problems that delay their development and communication. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations. One of the hidden features of CHARGE syndrome is the determination and strong character these children display.
While extensive research has been conducted, there is still a lot to learn. Continued research is needed to help us understand the medical and developmental challenges facing individuals with CHARGE. This understanding leads the way to medical and educational interventions and therapies that help people with CHARGE syndrome overcome many of the obstacles in their lives.
Source-ChargeSyndrome.org
Why is CHARGE Syndrome Foundation Important to us?
Our son Grayson was assumed to have various medical anomalies at my 18-week ultrasound screening. This is typically when parents can do an anatomy scan to determine the sex of their child. For us, however, we caught much more than that.
After the initial scan to determine that we were having a baby boy our doctor asked us to wait to further discuss a few abnormalities they noticed on the screen. The first thing they noticed was a narrowing of Grayson's aorta which if it was severe enough would have meant that Grayson would need to have emergency heart surgery after birth. There was also some concern about Grayson's left arm, either he was laying on it in an odd position or it looked to be a little malformed, and last on the list of the most concerning items was the inability to see a stomach on the baby, meaning he either, A. Didn't have a stomach or B. something was causing a blockage that was not allowing him to swallow and therefore not giving us any way to identify a stomach bubble in womb. After several months and constant monitoring by a team of doctors, Grayson was born.
At the time of his birth, Grayson was immediately admitted to NICU where he was diagnosed with a temporary diagnosis of VATER/VACTREL syndrome due to his many medical anomalies.
Grayson was born with:
Narrowing of the aorta
Tracheal-Esophageal Fistula
Esophageal Atresia
No left thumb
No left radial bone
After two surgeries, 8 weeks in the NICU, and a couple more rounds of genetic testing it was determined that Grayson had CHARGE syndrome, a syndrome the world knew so little about. While we were relieved to know his diagnosis was not one of a terminal illness and we were happy to have an answer as to what this was that our boy would live with forever, it was still frightening.
Foundations like the CHARGE syndrome foundation have offered a great deal of relief to families like mine by offering resources and education available to everyone to help spread the word about CHARGE so that hopefully we can help others know that it even exists. While there is no "cure" for this syndrome, awareness can help aid in the understanding and advocacy of CHARGE warriors everywhere.
This syndrome, while it does not define our son, is part of him and if we can help others learn more about it and connect with other parents in a similar position to where we were and currently are, we have done our part.