CHARGE Syndrome: The Ups and Downs
Five years ago, Joanna and Jonathan Tyler welcomed their first child. They were not expecting Savannah to be born with any problems and were stunned when she was diagnosed shortly after birth with a rare disorder known as CHARGE syndrome.
CHARGE syndrome is a recognizable genetic pattern of birth defects that occurs in about one in every 9,000-10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The term "CHARGE" came into use as an acronym for the set of unusual congenital features seen in a number of newborn children.
Savannah was born with five heart defects, bilateral coloboma (which impairs her vision), bilateral hearing loss, hypotonia (low muscle tone) and feeding difficulties. Savannah, wears hearing aids and uses a feeding tube. She has had multiple hospital stays and surgeries and procedures, including a tracheostomy and a colostomy (for about four months) because half of her large intestine died as a result of oxygen deprivation from a cardiac arrest. She has global developmental delays and global cerebral atrophy.
"CHARGE syndrome is relatively rare so there are not a lot of people around here who even know what it is," says Joanna Tyler. "We have dealt with each new thing as it has come up, and we have had some extremely difficult times. There were several instances where we didn't know if she would live or die. Our faith is what has gotten us through the tough times. We have prayed, cried and questioned. ... It has brought us closer to God and closer to each other as a family."
Tyler says that Savannah is now doing well and attends the pre-K program at Haynes-Inman Education Center in Greensboro. "Savannah is nonverbal, but we are working on alternative communication for her such as sign language and picture boards. She is unable to walk so she uses a wheelchair, but she can roll around and scoot to get to what she wants. She gets physical therapy, occupational therapy, speech therapy and hearing-impaired therapy," Tyler says. "We have to take care of all of her personal needs as she is unable to do so for herself. She receives nursing assistance through the CAP-C program."
Tyler says that despite all of her challenges, Savannah is a very loving child and enjoys being held. She also enjoys playing by herself in her playroom and loves any toy that plays music or that she can chew on. She loves to smile and giggle and enjoys all the attention she gets, especially from her two younger sisters. "Our other girls are still very young, but sometimes it is hard for Morgan, our 3-year-old, to understand why Savannah can't do the same things that she can do," Tyler says.
While the Tylers have faced many difficulties with Savannah's disorder, there have been many successes too. "Something that may seem like a small thing to the average parent is a big deal in this house," Tyler adds. "Savannah is starting to use a few signs, is sitting up well on her own and is pulling up to get things that she wants. It is such a great feeling when it seems like we are actually communicating."
Because there are many varying degrees of CHARGE syndrome and each patient is so different, there is really no way to know what Savannah's future holds, Tyler says. Realistically, she will always need assistance and will most likely never live independently. But the Tylers have faith that she will be able to eventually walk and communicate with them.
"Having Savannah has made us look at the world differently. We tend to look at things more closely and how they will impact Savannah. We want to help her as much as possible and make sure she has everything she needs to prosper. We are very protective of her," Tyler says. "Through it all, Savannah is an absolute joy. She has an infectious smile and laugh. Everyone who meets her falls in love."
Joanna and Jonathan Tyler live in Jamestown with their three daughters, Savannah, 5, Morgan, 3, and Emmelyn, 8 months.