Isaiah’s Story: Management of Congenital Nephrotic Syndrome

Faith and Ethan’s first son, Josiah, was born with a genetic mutation that causes congenital nephrotic syndrome. Sadly, by the time he was diagnosed with this rare condition, Josiah had already suffered a massive stroke that caused a blood clot in his brain. He passed away when he was just 3 months old. 

During their next pregnancy with their son, Isaiah, the couple wanted to learn as much as they could about the condition that had caused Josiah’s death and come up with a plan in case Isaiah was born with the same genetic mutation.  The Morgantown, Pa.-based couple was eventually referred to Benjamin Laskin, MD, MS, Chief of the Division of Nephrology and an attending physician at the Children’s Hospital of Philadelphia (CHOP). Faith and Ethan discussed their experience with Josiah with Dr. Laskin. The plan was to test Isaiah for the genetic mutation immediately after birth so he could get care for nephrotic syndrome right away.

Confirmation of congenital nephrotic syndrome

Within 12 hours of Isaiah’s birth, bloodwork confirmed that he also has the rare genetic mutation that causes congenital nephrotic syndrome. In nephrotic syndrome, the blood vessels that serve as the filtering systems for the kidneys leak too much protein out of the blood and into the urine.

Symptoms include low levels of protein — mostly albumin — in the blood and tissue swelling throughout the body (edema). Management of the condition can be very challenging, as different children respond differently to medication. Patients are prone to infection, blood clots, and failure to thrive. The condition typically leads to irreversible kidney failure and the need for dialysis and a kidney transplant later in childhood.

Isaiah’s case was severe and was resulting in massive amounts of protein leakage. He was transferred from his birth hospital to CHOP where he was admitted to the Nephrology inpatient unit and prescribed preventative medications to attempt to slow down the protein leakage and prevent a clot/stroke. After a few days of monitoring, Isaiah was discharged home.

The family returned to the hospital multiple times in Isaiah’s first month of life due to electrolyte derangements. His electrolytes were so unstable that he was eventually admitted back to CHOP’s Nephrology inpatient unit. They tried to stabilize Isaiah’s condition with NG-tube feedings, additional oral medications and various electrolyte infusions, however, he continued to decline.

“Those were hard days,” recalls Faith. “He was out of it all the time and very uncomfortable.”

When he was 2 months old, Isaiah was transferred to CHOP’s Pediatric Intensive Care Unit (PICU). He received a central line for regular albumin infusions and began total parenteral nutrition (TPN) to replenish the proteins and electrolytes he was losing, and he finally became stable.

Supporting the family’s input

Dr. Laskin and Tara Sardesai, MD, a fellow training in pediatric nephrology, met with Faith and Ethan and gave them several options for Isaiah’s immediate care. One such option, bilateral nephrectomies, involves removing both kidneys to resolve protein losses and improve edema. This is a major surgery and requires patients to be on dialysis until they can grow big enough to receive a kidney transplant.

Faith and Ethan expressed their concern with that plan to Drs. Laskin and Sardesai. TPN had finally gotten Isaiah to a place where he was comfortable and happy. They were worried about the risks of the bilateral nephrectomies.

Drs. Laskin and Sardesai understood and fully supported the couple in their wish to not go through with the surgery. They connected the family with CHOP’s Pediatric Advanced Care Team (PACT), which helps families navigate serious or complicated conditions.

PACT partnered with the medical team and the family to make it possible for Isaiah to be discharged home. They searched around and found a home care company that would support Isaiah with TPN and albumin infusions at home, so the family didn’t have to return to CHOP every day.

“It was very helpful to be able to really talk through what was best for him with the doctors,” says Faith.

Thankful for every good day

Isaiah’s body doesn’t produce enough healthy red blood cells — same as his brother, Josiah. He therefore struggles periodically with low hemoglobin levels, so he needs to come to CHOP for outpatient blood transfusions. In addition to Nephrology, he is followed very closely by members of CHOP’s Gastroenterology and Endocrinology teams, as well as Hematology given his brother’s passing from a blood clot.

Congenital nephrotic syndrome takes a different course for every child. The expectation is that Isaiah will likely go into end stage kidney failure sometime in the next four to five years, at which time he will need to be put on dialysis and receive a kidney transplant. His medical teams are working together to help him grow in the hope that when his kidneys fail, he will be big enough to receive a transplant. 

“It was shocking when Josiah passed away,” says Faith. “I was a very optimistic person and kept thinking he was going to be fine. I’m thankful for this new perspective, rather than thinking, ‘we need to get to transplant.’” 

Despite all he’s been through and still deals with, Isaiah is a very happy little boy, says his mom. He has two older sisters who he loves to play with. He also loves to have books read to him and is very curious.

“We had some very dark and difficult days where I didn’t know how we would get to the other side,” says Faith. “Now looking back, I’m thankful for the fact that we were able to get through that.”