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Charging Forward with CHARGE Syndrome: Liliana’s Story

Posted on Jul 08, 2021

Liliana and Katrina at Johns Hopkins All Children's
Liliana and Katrina at Johns Hopkins All Children's

It was supposed to be one of the most joyous days of Katrina’s life – meeting her first-born child, a girl, named Liliana. Sonograms showed the baby had a swollen kidney, but her obstetrician wasn't too concerned. Katrina was 41 weeks along and couldn’t wait to meet her baby.

Finally, it was delivery day, Lily’s birthday. But it wasn’t as blissful as Katrina had imagined.

“It was a very difficult labor. I was miserable,” Katrina recalls.

Lily swallowed meconium, baby’s first bowel movement, in utero, so a neonatal intensive care unit nurse was nearby to swiftly suction her. Katrina had a shortened umbilical cord and her blood pressure dropped dramatically.

“I was hemorrhaging and was thinking, ‘Oh my gosh, this is crazy,’” Katrina says.

She was taken straight to the operating room, almost needing her uterus removed. Luckily, she recovered. Then came the news about Liliana.

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“Lily seemed fine at first, and I was at the hospital for about four days while I was receiving blood transfusions, but then Lily’s anomalies were starting to add up,” Katrina explains.

She had a floppy ear, four heart defects, she failed her newborn hearing screening and had facial palsy (crooked smile). Liliana would need genetic testing. Katrina, who lives in Sarasota, quickly learned that they would be spending a lot of time at Johns Hopkins All Children’s Hospital in St. Petersburg, Florida.

“Once we got home and had regular check-ups with our pediatrician, Patricia Blanco, M.D., we continued to get more referrals for her anomalies,” Katrina says. “The week in my calendar got very full from therapy to doctor appointments to uncover all there was to uncover.”

Blanco discovered that Lily has CHARGE syndrome, a rare disorder, which affects multiple parts of the body. CHARGE is an acronym that stands for coloboma (structure of the eyes), heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities and ear abnormalities. It affects about 1 out of every 10,000 live births.

“It is very rare, but I’ve diagnosed a few others – one during residency and one early in my pediatric career,” Blanco says. “Lily is the first I’ve taken from birth and step by step and seen her grow up.”

Children with CHARGE syndrome can have a range of diagnoses, but for Lily, her medical complexities are heavily focused on the gastrointestinal system and brain. She also qualifies as dual impairment, being completely deaf and visually impaired. Lily is now 5 years old and to date has seen 35 different doctors, including 17 specialists. She has also received anesthesia 20 times for surgeries, including an emergency surgery, and various procedures.

“The amount of blood work, X-rays, infusions and Emergency Center visits is crazy. There’s so much going on, medically and multisensory. There are so many factors. It’s organized chaos,” Katrina says.

Blanco says Lily is coming along nicely and attributes that to Katrina’s dedication as her mom.

“If you're around Lily for any period of time, you get to know her persistence. She's had to overcome so many things,” Blanco says. “Katrina is responsible for how far Lily has come, she's constantly on the floor playing, getting her to learn, communicate and now Lily is starting to walk and communicate and make some of her wants and needs known.”

Lily’s care is around-the-clock and she also needs custom-made equipment, like her bed and walker. Katrina estimates Lily’s medical bills are in the millions and her care would not be possible without Medicaid. As a longstanding pediatrician in the Sarasota region, Blanco knows the importance of Medicaid funding for medically complex children like Lily.

“It is absolutely essential,” Blanco explains. “We’re expanding life for kids who would otherwise have died. The cost of all of this is astronomical.”

Recently, Katrina spoke virtually to lawmakers, including U.S. Rep. Charlie Crist (D-St. Petersburg) and U.S. Sen. Marco Rubio (R-FL), about the importance of Medicaid funding and keeping kids like her daughter top of mind during discussions on Capitol Hill. It was part of the 2021 Speak Now for Kids Family Advocacy Week, which Johns Hopkins All Children’s Hospital participates in each year.

“I am so thankful for Medicaid, which has provided us all of the lifesaving medical and support equipment,” Katrina says. “And there’s something about the hospital that has always kept me so comfortable. You never want to hand off your baby to just anybody, but at Johns Hopkins All Children’s, you just feel at peace.”

Katrina continues to be proactive in educating herself about CHARGE, learning American Sign Language and attending conferences. And although there are many doctor appointments, therapy sessions and hospital visits ahead, Katrina is continually motivated by her baby girl.

“I just love her so much, she is everything to me. She can't communicate her needs, but she’s so strong and so happy. She wakes up giggling and she has all these therapies. She's amazing and a super inspiration for me.”

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