The future looks bright for 5-year-old Jaxon, who is channeling his boundless energy into sports and outdoor play after a successful kidney transplant surgery.
Amy was 20 weeks pregnant when she learned during a routine ultrasound that the baby, who would be named Jaxon, had the signs of a rare birth defect known as prune belly syndrome.
“They noticed that his bladder was extremely enlarged. He was diagnosed with a lower urinary tract obstruction,” explains Amy. She and her husband, Jason, were at Children's Hospital of Philadelphia (CHOP) within three weeks.
Prune belly syndrome is a congenital birth defect that is characterized by three main abnormalities: an enlarged bladder, poorly developed abdominal muscles, and undescended testicles. The syndrome also commonly affects the urinary tract. Because the abdominal muscles are underdeveloped, the skin around the abdomen appears wrinkled, like a prune.
Amy began weekly visits from her home in Eastern Pennsylvania to CHOP’s Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment to monitor Jaxon’s condition for the remainder of her pregnancy. Jaxon was born at 35 weeks in the Garbose Family Special Delivery Unit, designed for healthy mothers carrying babies with known birth defects, and spent his first month in the Harriet and Ronald Lassin Newborn/Infant Intensive Care Unit.
Prune belly syndrome can affect other parts of the body, and along with kidney damage, Jaxon was diagnosed at birth with cardiomyopathy, or a thickening of the heart muscle, and failure to thrive, a condition in which an infant’s height and weight are below average. While Jaxon was eventually cleared of his cardiomyopathy, his kidneys continued to struggle.
Within the first six months of his life, Jaxon underwent a vesicostomy to help drain his bladder and increase his kidney function. This procedure creates an opening in the bladder that is sewn into the abdomen to allow urine to drain from the body. Jaxon then had surgery to place a peritoneal dialysis catheter, as well as a gastric feeding tube, because reduced kidney function can often cause a loss of appetite.
Peritoneal dialysis supports damaged kidneys by clearing waste from the blood through the abdomen. Jaxon spent a week at the hospital so Amy and Jason could learn how to administer dialysis at home, which they ran every night while Jaxon slept from the time he was 6 months old. They knew Jaxon would eventually need a kidney transplant. The first order of business was to get him healthy and strong.
Close calls and a Christmas to remember
Because Jaxon had poor abdominal musculature associated with prune belly, he received physical therapy early to build core strength, and while he experienced delays walking and talking, Jaxon’s precocity and energy were irrepressible.
In recent years, Jaxon came close to finding a donor match for a kidney transplant only to have things fall through. The family would receive word of a possible donor match and learn later that the donor was incompatible. They came so close to finding a donor at one point that Amy and Jason were signing consent forms for surgery when they learned the donor kidney had an anatomical anomaly and couldn’t be used.
An altruistic donor came forward and asked to be tested for Jaxon. Altruistic donors are people willing to donate a kidney to someone in need. This donor discovered Jaxon through Facebook and was moved by his story, as well as a shared love of the Philadelphia Eagles. While the donor wasn’t a match for Jaxon, he went on to donate his kidney to someone else on Jaxon’s behalf through a program called the National Kidney Registry.
On Christmas Eve 2020, at 11 p.m., Jaxon’s parents were wrapping presents when they got a call from CHOP that a near-perfect deceased donor match for Jaxon had been found. They were told to pack a bag and get some sleep. The transplant team would call in the morning. On Christmas Day, Jaxon and his big sister Carly woke up to open their gifts before the family began their drive to CHOP.
Building a future
Jaxon’s surgery and recovery was so successful that he was discharged on New Year’s Eve — a mere one week after his kidney transplant. Sandra Amaral, MD, MHS, was the family’s main physician through transplant and Jaxon’s recovery.
Post-surgery, Jaxon’s health was monitored during frequent visits to CHOP with Dr. Amaral and her multi-disciplinary team. Each time Jaxon and his family left nephrology, they would pass the construction for a new administrative building, called the Hub for Clinical Collaboration, and stop to see how the building was progressing. Jaxon was fascinated with the construction site and loved to watch how the new building took shape before his eyes.
One day back home, Amy was in the pharmacy picking up Jaxon’s medication when she struck up a conversation with the pharmacy assistant, Louise Pilla. The women learned they shared something in common: Louise’s son Anthony was working for Turner Construction, the firm building CHOP’s Hub for Clinical Collaboration.
During Jaxon’s next appointment at CHOP, a surprise was waiting for him as he and his mother visited the construction site. Anthony Pilla and the team were waiting to meet Jaxon and had a hard hat made for him. Jaxon was thrilled.
This year, Jaxon’s life has expanded in every way. He’s grown taller and stronger since his transplant surgery. He can play sports that he was never able to do before because of his dialysis catheter. He’s been tearing up the soccer and baseball fields. And there is room now for Jaxon to grow in other areas. He has occupational and speech therapy, and while he loves food and cooking, he is still fed through a gastric tube. The next step will be to gradually transition away from his gastric tube.
“Our experience has definitely been a rollercoaster, but the team at CHOP has been amazing from the day he was born,” says Amy. She singles out the team from the Kidney Transplant and Dialysis Program as well as Christopher J. Long, MD, a pediatric urologist who they had an appointment with before Jaxon was even born.
“They are like family at this point. They have been amazing with us.”