Cornelia de Lange Syndrome (CdLS): Oliver’s Story

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Molly is a proactive parent. When a prenatal test showed an increased risk of Down syndrome, she had an amniocentesis, which was negative for Down’s. 

Oliver When baby Oliver, who was born at 5 pounds, 15 ounces, was still small at 6 months, Molly and husband, Andrew, had Oliver tested for cardiac and GI issues. The only thing that came back was mild reflux. Even though he was developing fairly normally (he was a little unsteady sitting up), when Oliver was 8 months old, they took him for a genetics consultation at Lurie Children’s Hospital near their Chicago-area home.

Inside knowledge of CdLS

Inside knowledge of CdLS Geneticist Mindy Li, MD, who just happened to have trained as a resident at Children’s Hospital of Philadelphia (CHOP) and spent time in its Center for Cornelia de Lange (CdLS) and Related Diagnoses, spotted subtle signs their pediatrician and other specialists had not.

“She told us, ‘I can’t know anything definitively until genetic tests come back, but I suspect he has a mild case of CdLS.’ We had never heard of it,” says Molly.

Molly immediately began researching CdLS, and, once she learned a bit about it, “I could really see it,” she says. “While, luckily, none of his issues are very serious, it just explained everything.”

The more Molly researched, especially with the help of the Cornelia de Lange Syndrome Foundation and by connecting with families on the Facebook CdLS Discussion Board, the more proactive she became.

She didn’t wait for genetic testing, “which was a good thing because it ended up being 10 months before our insurance company approved it,” Molly says.

She quickly arranged for an evaluation by her county’s Early Intervention Unit, which resulted in physical therapy for Oliver right away. A sedated auditory brainstem response (ABR) hearing test indicated mild hearing loss, so he received hearing aids and treatment from a developmental hearing therapist. After discovering how important speech development was, Molly insisted on adding speech therapy to his treatments. “I am beyond grateful for the CdLS families we have connected with online and in person. We would not be where we are today without their knowledge and support,” she says.

Oliver was already excelling in his therapies by the time the CdLS diagnosis was official, via genetic test results, when he was 18 months old.

CHOP’s focus on individualized care

Another key thing Molly learned from the CdLS community was about CHOP’s Center for CdLS, located within the Rare Diagnoses Program of the Roberts Individualized Medical Genetics Center (IMGC). “When I looked it up, I was impressed with its focus on lifelong treatment,” Molly says. “Because every kid with CdLS is so different, I wanted to get a plan especially for him and what he needed.”

Oliver’s appointment in the CdLS Clinic was in July 2018. He stayed in one exam room while physical therapist Ann T. Harrington, PT, DPT, PhD, PCS; gastroenterologist Kathleen M. Loomes, MD; developmental pediatrician Mary Pipan, MD; center Director Ian Krantz, MD; and Clinical Director Sarah E. Raible, MS, LCGC, came in to perform their evaluations. Krantz and Raible then presented an overall plan.

“It’s every parent’s dream to get that specific information for your specific child,” says Molly. “It was great to meet the CdLS experts. Our medical team in Chicago is amazing, but they do not always have answers to CdLS-specific questions. At CHOP, they know.”

For example, Molly and Andrew had contemplated starting Oliver in kindergarten at age 6, not 5. Dr. Pipan wholeheartedly agreed. “We came home with concrete steps to take to keep Oliver’s development moving forward. I loved that the CHOP doctors gave me that level of expertise,” Molly says.

A phone call away

Oliver and family The family appreciates that they can contact CHOP’s CdLS team by phone or email if a question comes up. “When some of Oliver’s immune levels came back low, I wanted a second opinion about what to do,” Molly says. “Sarah told me it was OK to watch and retest, and now they’re up. We’re so grateful the experts are just a phone call away.”

One way they showed their gratitude was to designate gifts “in lieu of flowers” from Molly’s father’s funeral to CdLS research at CHOP. Oliver’s grandfather, Steve Doran, was an oral surgeon and acted as the family’s “medical partner” with Oliver’s diagnosis and treatment options. Doran had come to Philadelphia with Molly and Oliver for their clinic appointment. “He was so incredibly touched by meeting the CdLS doctors,” Molly says.

Family’s ‘mischief maker’

“Oliver is just a joy. He has a smile that draws people in. When we’re out, people always comment on his eyes, his eyelashes, his smile. He loves that and gives them a high five or blows them a kiss,” Andrew says.

He actively plays with his older brother — and best friend — Isaac, 5, and he loves dancing and music. Wheels on the Bus is the current favorite. Taking after Andrew, Oliver has become the family “mischief maker.” “He always walks his therapists to the door, and then he’ll put their shoes on his feet — looking for the laugh,” Molly says.

He’s always been a social butterfly, interacting with anyone and everyone. That’s one reason Molly and Andrew decided to be proactive again, openly talking about his CdLS diagnosis.

If someone asks about his small size or long eyelashes, Molly might explain, “Oliver has a mild form of a genetic syndrome. Depending on their reaction or the circumstance, I’ll gladly provide more information. I treat it like you would talk about any topic concerning any child,” she says.

Next up is school. Oliver qualifies for school district-provided preschool, which will include his various therapies and incorporates typical children, too.

“Oliver will have challenges just like any kid; it’s just that some of his challenges have a name,” Molly says.

We won’t always be able to control how the rest of the world sees him, but, by sharing our experiences, we hope to build awareness about the beautiful diversity and the shared experiences that we all have.

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