Pallister-Killian Syndrome (PKS): Violet’s Story

The decision to uproot their lives and leave their close-knit family and friends was an easy one to make, for both practical and inspirational reasons. “When we came to CHOP for the clinic visit, it was the first time since Violet was born that we were given hope,” says Bobby. “They gave us a plan for Violet’s future. It was amazing to hear something so hopeful.”

Something wrong, but what?

Violet spent the better part of her first year in three different Illinois hospitals. Because her tailbone was exposed at birth, doctors knew something was amiss — they just didn’t know the full extent.

“It seemed like they found something else wrong every day,” says Amber. “She wasn’t eating well. She didn’t nurse like her sister had.”

Doctors determined Violet had a high arched palate and was aspirating, making it difficult for her to latch on, so a gastrostomy tube was placed for feeding. Her gut anatomy was abnormal, a condition called intestinal malrotation, so she underwent a Ladd surgery to put things in their proper place. In time, other anomalies came to light, such as her congenital diaphragmatic hernia (CDH), sparse hair pattern, anorectal malformation, hypotonia and craniofacial differences. Eventually, she underwent genetic testing.

“They met with us to inform us she had Pallister-Killian syndrome (PKS),” Amber remembers. “They gave us a website and a couple of articles on the condition. That was it. She was the first patient with PKS the hospital had ever had.”

Through the PKSkids.net website, the family learned about CHOP and the research that physician-scientists Kosuke Izumi MD, Ian Krantz, MD, and others at CHOP’s Roberts Individualized Medical Genetics Center (IMGC) were doing in PKS. That prompted the clinic visit in April 2018 that changed their lives.

Expertise in PKS

“In Chicago, we were the ones telling the doctors about PKS, from what we had learned. But at CHOP, doctors gave us information on her diagnosis,” Bobby says.

“We went from a very negative outlook on Violet’s quality of life to learning that, while she’ll never be fully capable, she can live a long, happy life.”

Amber says, “They knew so much about PKS and were treating several other PKS patients, so we knew right away that this is where we wanted to be. Philadelphia was where Violet would get the best care possible.”

With family and friends pitching in, they put their house on the market; Bobby’s employer transferred him to its Swedesboro, NJ, facility; and the family — including Azalea, now 4 — was in their Delaware County, PA, home by July. Amber’s mother,  who’s a nurse, moved as well. “The house sold in one day,” says Amber. “The way everything fell into place, it was meant to be.”

Amazing care coordination

Given that Violet sees 15 different specialty practices at CHOP — in addition to her pediatrician at CHOP’s Primary Care, Haverford — keeping track of when she is due for follow-up appointments and making sure all her doctors know what is happening could have been a daunting chore.

Instead, Violet qualified for CHOP’s Compass Care Program for children with complex healthcare needs, and her Compass Care physician, Annique Hogan, MD, has become the glue that holds all the pieces of Violet’s care together. “It’s such a weight lifted off our shoulders, words can’t express it,” Bobby says. “Dr. Hogan knows who Violet needs to see in the current moment and who she needs to see in the future. We’ve been able to breathe.”

“I sing the praises of Children’s Hospital and Compass Care,” says Amber. “They’ve been wonderful. I also love, love, love MyCHOP,” the hospital’s electronic medical record that families can access online. “It helps me keep track of appointments, medicines, everything.”

Pennsylvania services: a big help

The level of services provided by the state of Pennsylvania also far outperforms what is available in Illinois. For example, Amber has been able to return to her career as a middle school social studies teacher because Pennsylvania provides day and night home nursing care. “I hadn’t thought it would be possible,” Amber says.

To make things even better, Violet’s grandmother, the nurse, was named as her daytime care provider. “She calls it her dream job,” Amber says.

Children with disabilities in Pennsylvania are automatically eligible for Medicaid as a supplemental insurance, which is a big help with co-pays and deductibles.

Violet also receives physical, occupational, vision, speech and audiology therapies from the Delaware County Early Intervention Unit, along with social work services, which provides services for families with a child who has developmental and physical delays.

Seeing progress

With Violet’s many physical challenges in the capable hands of CHOP clinicians, her personality is starting to blossom. “She’s our wiggle worm,” says Amber. “She’s working on rolling over.”

“She’s beginning to vocalize more and more,” Bobby says. “She’s letting us know her likes and dislikes.” Likes: being tickled, lights, music and, especially, her big sister. Dislikes: a delay in feeding time.

“It’s amazing that she knows, to the minute, when it’s time for her feeding,” Amber says, “and she lets us know if we’re even a tiny bit late.”

The biggest thing the family has learned from Violet is patience.

“Milestones that most parents take for granted, we celebrate each and every one. We’re her biggest cheerleaders.”