Life with Ellis-van Creveld Syndrome The Stoltzfus Family
“I knew within 30 seconds of Becky being born that she had EVC (Ellis-van Creveld Syndrome),” remembers Linda Stoltzfus. Just hours after Linda and her husband, Abner, welcomed Becky into the world, they were surprised to find themselves at the Clinic for Special Children. “Our midwife stressed to us that we needed to get Becky’s heart checked out immediately,” says Linda. After assessing Becky’s condition, the Clinic decided that she needed urgent complex care and sent her to Penn Medicine Lancaster General Health’s Women’s and Babies Hospital.
At the hospital, the family met Dr. Devyani Chowdhury, the director of Cardiology Care for Children, who serves as a visiting pediatric specialist at the Clinic. Dr. Chowdhury recommended cardiac intervention and an echocardiogram showed that Becky required life-saving surgery or she would not survive. Becky was then flown to Nemours Children’s Hospital in Wilmington, Delaware. Becky was initially at Nemours for a three-month stay, which included a hybrid procedure as she was too sick to have open heart surgery and there were many difficulties in stabilizing her condition. “It was once she got a procedure to fix the backup of stomach contents into her esophagus (Nissen fundoplication) with a G-tube (feeding tube) around three months old that she really started to turn around and we were able to bring her home,” explains Linda and Abner.
After her discharge from Nemours, Becky was connected with Dr. Kevin Strauss, Medical Director at the Clinic, who saw Becky at her first visit and has been her primary care provider ever since. Becky was also connected to multiple visiting specialists at the Clinic for her comprehensive care.
“Around her first birthday, Dr. Chowdhury started to mention about going to Boston Children’s Hospital to get the intensive heart surgery that Becky needed. Shortly after we were on our way to Boston,” says Linda. “At first we were not impressed about going so far, but we’ve never been sorry for they helped her so much.”
At Becky’s first visit to Boston Children’s Hospital, she had catheterization procedures to optimize her cardiac plumbing for a two chamber heart repair surgery. A year later when she was older and healthier for surgery, they went back to Boston Children’s Hospital where Becky had a two chamber surgical intervention. To this day, it’s thankfully the last heart surgery she’s needed.
“Over the first two years of Becky’s life, we were at the Clinic frequently and also saw Dr. Chowdhury as a visiting specialist at the Clinic,” says Abner and Linda. “To have visiting specialists on-site at the Clinic is so valuable. It would have been so much further and more expensive for us to have to travel to see all of Becky’s specialists, but instead, they came to the Clinic.”
“When we were at Nemours for the first three months of Becky’s life, we didn’t even realize that the Clinic was following our story the whole time. I remember coming to the Clinic the first visit after getting discharged from the hospital and everyone was cheering us on when we walked in,” remembers Abner and Linda. Becky has also had several non-cardiac surgeries, all coordinated through the Clinic with support from cardiology.
Today, Becky is a happy and healthy eight-year-old. She is a great helper around the house, especially with her younger siblings. “To have an EVC baby, it’s not always an easy road but it’s also not a big deal,” notes Linda, “we trusted whatever the Clinic and Dr. Chowdhury told us to do and they were there for us along the journey.”