No Airfare Needed: Libi Finds Expert Rare Disease Care Close to Home

Libi was born at 31 weeks under the care of foster parents Amy and Eli. Due to medical complexities that presented at birth, Libi and her foster parents – now her adoptive parents – became no strangers to hospital rooms.  

At six months old, Libi underwent her first open-heart surgery at Lurie Children’s Heart Center. She was also diagnosed with hydrocephalus, the buildup of fluid in the brain, which was alleviated by a shunt.  

Still, Amy and Eli had little insight as to what caused Libi’s medical complexities – until one detail came to light. At a check-up appointment at Lurie Children’s, a neurosurgeon mentioned Libi’s cerebellum was abnormally large. 

As Amy conducted her own online research about enlarged cerebellums, she landed on the website of the Williams Syndrome Association. Williams syndrome is a rare genetic condition affecting only 1 in 7,500 people, characterized by developmental delays, unique learning profiles, and cardiovascular disease, among other traits.  

“It was like seeing my child; I knew she had it,” Amy said. “She had the same facial feature and characteristics. She’s very affectionate and has a strong affinity for music, which can be common for people with Williams syndrome.”  

A blood test confirmed Libi did have Williams syndrome. At Lurie Children’s, a multidisciplinary care team is devoted to treating and supporting kids with Williams syndrome – meaning Libi can receive world-class care right in her very own city.  

Libi now attends the Williams syndrome clinic at Lurie Children’s, where she has access to clinical expertise and supportive services tailored exactly to meet her needs.  

Dr. Joshua Baker and genetic counselor Sarah Jurgensmeyer are part of her care team, along with registered dietitians (Brooke Kurkjian and Anne Kozek) and a music therapist (Mayte Gomez-Cruz) who provides emotional regulation – a service that Amy describes as a “game-changer” for Libi. The clinic team also includes the services of a pediatric cardiologist (Dr. Matt Cornicelli) and a social worker (Jalen Clemmons).  

Services extend beyond the patient room to support the child at home and school. “The team offers the assurance that our child is in good medical health,” Amy said, “and they give us documentation that we can then take elsewhere, like to Libi’s school, for appropriate accommodations.”  

Now six years old, Libi enjoys life at home with her siblings, who are her favorite playmates. She loves visiting the playground, playing the piano, traveling and reading books. 

“I’m thrilled that her well-rounded care means she can be seen by different experts in one place that is so close to our home,” Amy said. “That is a really secure feeling as a parent. There are so many people with rare diseases who don’t know where to go for care, and the closest clinic may be an airplane ride away. It’s huge that I not only know who to go to, but that it’s also in my city.”