Soon into their first pregnancy, Rachel and Kris Collins learned their daughter had a heart defect. Specifically, their unborn daughter, Litsey, had an atrioventricular canal defect, which Rachel explains meant their daughter had few extra holes in her heart.
Given her heart defect, doctors recommended a planned birth at Kosair Children’s Hospital (now Norton Children’s Hospital). But after Litsey was born, “doctors just kept finding stuff,” Rachel said.
They diagnosed Litsey with esophageal atresia, which Rachel explains as a disconnect between the upper and lower esophagus. Doctors repaired Litsey’s esophagus with surgery when she was only two days old.
Not long after Litsey recovered from her surgery, Rachel noticed her daughter’s eye looked different. Instead of a circular pupil, Litsey’s looked more like a keyhole. Rachel pointed it out to the nurses, who told her they would inform the doctor and get back with them. The Collins went back to their hotel for the night, but received a call later from Litsey’s doctor, who told them the keyhole shape was called a coloboma, a congenital malformation of the eye. This combined with the heart defect and esophageal atresia led them to believe Litsey had CHARGE Syndrome.
“The doctors said, ‘don’t Google it. Don’t get freaked out. Just come back and see us tomorrow and we will talk about everything,’” Rachel said. “So of course, being a mom, I immediately Googled it.”
What Rachel discovered was that each letter in CHARGE stands for a symptom of the syndrome.
» C stands for coloboma. Litsey has the keyhole in her iris, but is also missing the middle of her macula in her right eye, leaving her without much vision in that eye. Her left eye has a small coloboma, and although she can see some, she is legally blind in her left eye.
» H stands for heart defect. This was the one thing the Collins prepared themselves for when their daughter was born. Doctors hoped Litsey could wait until she was 4 months old for her heart repair surgery, but unfortunately she went into heart failure at 5 weeks. Doctors were able to successfully repair the defects at 7 weeks.
» A is for atresia. Typically affecting the choanae, or passages that go from the back of the nose to the throat, Litsey’s atresia only affected her esophagus and was repaired when she was just 2 days old.
» R stands for retardation of growth. Litsey was wearing 12-month clothing on her second birthday, but at almost 5, Litsey’s size is more on target now for age.
» G stands for genital or urinary issues. Litsey did experience some kidney issues early on, but those were fixed and she hasn’t had a problem since.
» E stands for ears. Litsey has profound hearing loss in her left ear and moderate loss in her right ear. She wears a Baha, a bone anchoring hearing aid, as she lacks the correct anatomy inside of her ear for a regular hearing aid.
The Collins were at Kosair for a total of 85 days. Just a week before they left, Litsey began having airway problems leading to an emergency tracheostomy. And while it was scary, Rachel says her daughter was much better after and was more comfortable breathing. A gastronomy tube (g-tube) was placed to provide Litsey food and then, after almost three months in the hospital, Litsey was released.
“Since then it’s been a learning process,” Rachel said. The Collins immediately began physical, speech, and occupational therapies with Litsey.
It wasn’t until Litsey was 1½ years old that she stood. A year later Rachel and Kris got Litsey a walker. Then, at almost 3 years old, everything changed. Litsey started walking around and exploring her world. Rachel attributes that change to Litsey’s therapy that they started as soon as Litsey was out of the hospital and to getting the equipment she needed. “Before, she had no interest in us,” Rachel said. “It was like we were nurses. We didn’t get the whole mom and dad experience. But now she seeks us out. She doesn’t just want to sit and play with a toy by herself. This kid today, I never could have imagined it a couple years ago. At birth, you never could have imagined she is doing what she is today.”
This year, Litsey started preschool at Southern Oaks Elementary. And although she has a nurse with her at all times, Litsey is in an inclusive classroom and is doing well. “The great thing about little kids is they don’t really see the stuff that adults do,” Rachel said. “They are just like, ‘there’s a little girl and she wants to play with us.’ So she’s got friends there. She gets to be a normal kid for a little while.”
The Collins have started focusing on communication a lot with Litsey in the last year by introducing sign language. Her therapists also work with her by showing her cards of different pictures, asking her to pick out the one that looks like a plane or a brush. Rachel says most kids would know this well before Litsey’s current age of 4, but they are just trying to figure out what communication works best for Litsey.
“Obviously, we know what she’s trying to tell us because we’ve been around her the whole time,” Rachel said. “But it’s hard for her to get what she needs across to other people. That’s why we wanted to start preschool. We wanted to get her acclimated to other people and seeing how other kids interact.”
While Litsey is having a lot more good days than before, the Collins admit they still face challenges. “Sometimes it’s like we have a 4-year-old that does normal 4-year-old things,” Rachel said. “She gets into something and we get to tell her no. We get to do normal 4-year-old stuff with her. And sometimes we have a baby again that we can’t understand and she can’t tell us what she needs. And then she gets really upset so we have fits and issues like that.”
Despite the challenges they face as parents to a child with special needs, the Collins cherish every day they have with their daughter. They have known since her diagnosis that a child with CHARGE Syndrome is only expected to live to through their mid-20s.
“We’re looking for the 5th birthday,” Rachel said. “CHARGE kids tend to have a lot of issues. They tend to have a 1 in 6 chance of making it past 5 years old. So it’s kind of like a milestone when she hits her 5th birthday in April.”
CHARGE Syndrome is extremely rare. Rachel says there are only four “Chargers” in the state of Kentucky, one of which is a 17-year-old girl that happens to live in Hancock County. When Litsey was just 1, the Collins took their daughter to meet her.
“It was like this little girl is Litsey when she was a baby,” Rachel said. “Same exact stuff. This girl’s baby pictures looked like Litsey. To sit in her living room and here is my daughter who is a year old and is still in 6-month clothes and she doesn’t move or do anything on her own and we just carry her around because that’s all she wants to do. And to see this 13-year-old girl [at the time] who has the same exact stuff and she’s in school and she’s on the honor roll and she takes vacations with her family and does completely normal teenage stuff. To have that literally 30 minutes away. To see that there is someone older that has the same kind of issues. And she made it.”