Rebekah Frederick is a 7-year-old girl from Ohio who loves animals and might want to be a veterinarian when she grows up. Or a cardiologist. Or a pediatrician. There’s still time to decide. Her mom, Jennifer Frederick isn’t quite sure how being a vet is going to work out for her.
“She won’t pet her pet hamster, so I don’t know. We’ll see about the veterinarian thing,” Jennifer said. (Update: She will hold it now!)
Rebekah loves running around outside, playing in water and spending as much time as she can jumping on her trampoline. She absolutely adores school and was very upset when her kindergarten class let out for the summer.
“Even at home, she asked ‘Can I work on worksheets and do some learning things?’ and I was like ‘Sure!’” Jennifer said.
Rebekah is sweet, kind, loving and caring and is always concerned about whether everyone around her is OK. Jennifer said her husband, Daniel, had a nasal surgery in 2022 and Rebekah continuously checked to make sure he was feeling alright and helped change his bandages.
When Rebekah was a year and nine months old, she was diagnosed with Cantu syndrome. Cantu syndrome is a rare disorder that is often characterized by excessive hair growth, a distinctive facial appearance, heart defects and other abnormalities. It is due to mutations in the ABCC9 gene (and occasionally the KCNJ8 gene) and has been reported in the medical literature in about 150 people.
“We knew when she was born there was something different, we just didn’t know what it was,” Jennifer said.
Rebekah’s has a dilated aorta, low muscle tone and excessive hair on her head, back and extremities. She sees a cardiologist regularly in Ohio, but the Fredericks have come to the Washington University Cantu Syndrome Clinic at St. Louis Children’s hospital twice now. They learned about the clinic through the Cantu Syndrome Registry.
The Cantu Clinic brings providers, patients and families together in a clinical setting to further evaluate and research the features associated with Cantu syndrome, while building a social environment for all those involved to interact and connect with one another. Every year, in addition to the clinic, the Cantu Syndrome Interest Group hosts a small symposium, offering families the opportunity to learn more about the syndrome and current research.
There are only two clinics in the world to accommodate Cantu patients and their families — the clinic in St. Louis, Missouri, and another at University Medical Center Utrecht in Utrecht, Netherlands. Patients and families from countries all over the world, also, utilize the Cantu Syndrome Support Group on Facebook to connect and ask each other questions.
Dorothy Grange, MD, a professor of pediatrics at Washington University School of Medicine in St. Louis, has a special interest in Cantu and is part of the multispecialty team at the Washington University Cantu Clinic. She is one of the leading Cantu experts in the U.S.
Jennifer Frederick said her family chose to come to the Cantu Clinic because of the research being done on the disorder. “I just love the fact that they are taking the time and doing the research and trying to help [Cantu patients and families] out.”
When the Frederick’s geneticist first learned of Rebekah’s diagnosis, Jennifer said he didn’t know much about it and handed her some information pamphlets and published studies Grange and her colleagues had written.
“The children’s hospital and Dr. Grange are the ones who are researching it, so they’re the ones who know everything about it,” she said. “We’ll go there ever year. We’ll go over there more often if we need to. We want to give [Rebekah] the best possible care that we can give her.”
Every year, the Cantu Syndrome Interest Group at Washington University School of Medicine hosts a symposium, in addition to the clinic.
In addition to the top-notch research and leading experts in the field, Jennifer said she enjoys going to the clinic because it gives her a chance to connect with other Cantu patients and families and ask them questions about what to expect in the future. “That’s been really awesome because I don’t have that here,” she said. “I don’t know if there’s anyone else in Ohio or around us who has it.”
The Cantu Clinic may have inspired Rebekah too. With her motivation to want to help take care of people and her inquisitiveness, her parents think she might grow up to be a doctor… or a researcher. “She’s really just becoming a great little girl, and she has such a good heart, and I just know that she’s going to do wonderful things,” Jennifer said.