It’s been a long road for Mason and his family, but with support from his team of specialists at Children’s Hospital of Philadelphia (CHOP), he is growing and developing well and defying expectations.
Mason was born 3½ weeks early at a hospital near his family’s home in Langhorne, PA. He had undescended testes, but was healthy otherwise. An ultrasound during Erica’s pregnancy with Mason had shown brightening of his kidneys — known as echogenicity — which can be a sign of disease. But an amniocentesis had come back normal, so he seemed OK.
But three weeks after he was born, everything went downhill, says his mom, Erica. Mason suddenly became irritable and lethargic. He didn’t want to eat and had decreased urine output. Erica took him to the pediatrician who ran some blood tests. When the results came back, the pediatrician urged the family to get to Children’s Hospital of Philadelphia as soon as they could. Mason’s creatine and hemoglobin levels were off the charts.
By the time the family got to CHOP’s Emergency Department, Mason’s temperature was low and his blood pressure was through the roof. The doctors were instantly concerned.
“All of these doctors rushed to his room,” recall Erica and Rich. “Before we knew it, there were doctors and nurses from six different specialties trying to figure out what was going on. It was like something out of a movie.”
Kidney failure and severe hypertension
Mason was suffering from kidney failure and severe hypertension. He needed dialysis immediately, which would do the vital work of removing toxins from his body. He was admitted to CHOP’s Harriet and Ronald Lassin Newborn/Infant Intensive Care Unit (N/IICU), but soon after was moved to the Pediatric Intensive Care Unit (PICU) where he underwent dialysis while doctors continued to investigate exactly why his kidneys were failing.
“At many times in the beginning, the physicians didn’t think he was going to survive,” say Erica and Rich. Fortunately, the couple was able to stay nearby in one of the parent rooms in the N/IICU.
Initially the clinical team thought Mason had autosomal recessive polycystic kidney disease (ARPKD), in which clusters of cysts develop in the kidneys. But genetic testing revealed that Mason has a WT1 mutation consistent with Denys-Drash disease, a rare condition that can cause abnormal kidney function and cancerous tumors in the kidneys. Since Mason’s kidneys weren’t functioning and were beyond recovery, to prevent the risk of malignant tumors forming, his kidneys and one of his testes were surgically removed.
“The genetic testing was huge because it potentially saved him from having tumors and other complications,” says Erica.
Mason’s care has involved a host of specialists at CHOP. In addition to nephrologists and geneticists, gastroenterologists helped when he struggled to hold food down after surgery and needed a G-tube and then a GJ-tube to help him get the nutrients he needed to grow; neurologists followed him after testing determined he had a stroke at some point either before or at birth; and endocrinologists have provided management of his hypothyroidism.
“They have saved his life on numerous occasions,” says Rich.
“They truly have shown us how much they care about his well-being.”
Dialysis while awaiting kidney transplant
For 1½ years, Erica woke up every day wondering if she was going to have to rush to CHOP. The family has been through multiple hospital stays and surgeries, and two really bad codes in which they didn’t know if Mason would survive. But life has started to get a little easier.
Now 2½ years old, Mason receives 10 to 12 hours of dialysis a day. He is being treated for anemia and the bone and mineral issues that come with chronic kidney disease, and is still currently using the G-tube. But he has been taken off many of his GI medications, his blood pressure is finally stable, and he is growing and developing well. He defied expectations by walking just before his second birthday. And he loves running, music and dancing.
“Everyone is amazed that this little boy is able to do this,” says Erica. “He doesn’t ever show you that he’s grumpy being on dialysis.”
He receives round-the-clock care from Erica, who had to give up her career so she could care for him, as well as a nurse.
“Dialysis affects your whole life,” says Rich. “Your life centers around that machine and him. You look at him and you wouldn’t know anything is wrong, but there is a serious team that follows him.”
Mason is now undergoing an evaluation for a kidney transplant. Urologists will soon oversee a procedure called bladder cycling, which will help Mason’s bladder muscle get stronger in order to hold urine once transplanted. After three months of cycling, if his bladder is functioning well, Mason can be placed on the list for a kidney transplant.
Kidney transplant will come with some burdens. Mason will have to be on a strict regimen of anti-rejection medications for the rest of his life. And because he is so young, there’s the chance he would need multiple transplants in his lifetime. But for now, the family is hopeful he will get a kidney transplant that lasts him through his teenage years and that medical advances in the meantime will make it possible for him to live a long, happy life.
“He is extremely resilient,” says Rich. “With all of his talents, we think something big is meant for him.”