How a kidney transplant changed the life of a boy with rare genetic disorder

Crystal Perkins loves her boys. The noisy, energetic and occasionally messy reality of raising sons is an everyday part of her family's household.

Crystal Perkins celebrates the pending arrival of her fourth son.

That's why, when her fourth boy was due in 2018, she and her husband, JR, felt confident they knew what to expect.

But five weeks before Crystal's delivery date, the couple went to an ultrasound appointment and got news they were not expecting to hear - Crystal's amniotic fluid was low. The baby's kidneys were "bright." Doctors refer to this as echogenic kidneys, a finding in which the kidney tissue appears brighter or whiter than normal when compared with the liver. This increased brightness can signal a variety of kidney conditions and may indicate changes in the kidney tissue that require further evaluation.

"All the other pregnancies were really healthy," Crystal said. "We were so surprised because we didn't think anything was wrong."

The couple was immediately sent to labor and delivery at a hospital near their Rancho Cordova home.

A rare genetic disorder: Autosomal recessive polycystic kidney disease

Crystal spends times with Jordy in the NICU.

Jordy Perkins was born on April 29, 2018. Then came the diagnosis: auto recessive polycystic kidney disease (ARPKD), a rare genetic disorder that affects about one in 20,000 children.

Low amniotic fluid results in underdeveloped lungs, which causes major breathing issues in babies. The disease also leads to lifelong issues with kidney function … if the baby survives.

About 30 percent of newborns with ARPKD die within their first week.

The Perkins held onto hope that their son would make it.

Rushed to UC Davis Children's Hospital

Jordy's best chance, doctors said, was for an ambulance to take him to UC Davis Children's Hospital, the only one in the area that could provide the level of care he required. UC Davis has the only nationally ranked pediatric nephrology program in the Sacramento region.

Jordy's underlying kidney condition put him at high risk of developing progressive chronic kidney disease and, ultimately, dialysis or a transplant.

We did not know how severe the lung condition was, so whether he would be able to breathe on his own could not be predicted. Only time would tell and this was a source of great anxiety for all."-Lavjay Butani, UC Davis pediatric nephrologist

But the greatest immediate challenge was to get enough oxygen to all his organs.

"We did not know how severe the lung condition was, so whether he would be able to breathe on his own could not be predicted," said UC Davis pediatric nephrologist Lavjay Butani. "Only time would tell and this was a source of great anxiety for all."

The road ahead would be long. The Perkins learned Jordy would be in the hospital for the first six to eight months of his life and they committed to spend every day in the neonatal intensive care unit (NICU) with their newborn.

Then something no one expected happened: Jordy was healthy enough to be discharged after only nine weeks in the NICU. This little fighter was on his way home.

Complications from ARPKD

Over time, however, Jordy's kidneys got worse, becoming so enlarged it made breathing almost impossible. He would need kidney removal surgery, something his parents had not planned on.

Jordy would face numerous setbacks during his first few years of life.

Although the surgery helped, Jordy still struggled. He was sick all the time. He couldn't eat. His teeth weren't growing. He couldn't even sit up.

Jordy was constantly in and out of the hospital.

Reduced kidney and lung function and other complications of ARPKD can contribute to growth failure, leaving children smaller than average for their age. They may also experience hypertension and liver complications.

It was hard to watch their son struggle, but Crystal and JR had faith in Butani.

"He saved Jordy's life on multiple occasions. There's no one I would trust more than Dr. Butani," Crystal said. "I just adore him."

That trust would carry Crystal and JR through the next setback and beyond.

Transplant time

Jordy was scheduled for his kidney transplant in May 2020, two weeks after his second birthday.

"We finally got to a point where Dr. Butani thought it would be safe for Jordy to have his kidney surgery," Crystal said. "Everything's not textbook. Dr. Butani really took the time to look at the whole picture and make the best decision for our son."

By then, a fan club had emerged.

"There were doctors and nurses coming up to Jordy's floor who had taken care of him prior to the transplant. They just wanted to check on him," Crystal said. "The medical team and even the cleaning staff were so good to us."

There's no one I would trust more than Dr. Butani."-Crystal Perkins, Jordy's mom

An enduring bond

It's been about six-and-a-half years since the transplant. There have been no signs of kidney rejection.

Plus, Jordy's development is back on track.

"The transformation was crazy. Jordy started talking. He started walking. He started growing," Crystal said. "Everything has changed in his life and in his personality. He's 100% a different kid thanks to the transplant and Dr. Butani. I can't even explain to you how grateful I am for that man. I wouldn't let Jordy go to any other nephrologist."

In fact, the Perkins' medical insurance is shaped around their son's access to Butani's clinic, which they visit every eight weeks.

Jordy and pediatric nephrologist Lavjay Butani reunite at a recent clinic appointment. Despite his tough beginnings, Jordy's resilience and spirit are on full display.

On a recent stop at the pediatric nephrology clinic at the Glassrock Building, Jordy ran up to Butani and gave him a hug.

"They have a really special bond," Crystal noted.

Resilience meets hope

The Perkins family gathers to celebrate a recent graduation.

It is moments like this that remind Butani why he does what he does.

"It has been such a joy seeing Jordy grow from a fragile little baby to the happy, smiling boy he now is. What he has endured is remarkable and something most of us can never truly comprehend," Butani said. "One of the greatest joys of being a physician is that I get to follow patients and be a small part of their lives. Despite it all, Jordy always greets me with that infectious and mischievous smile. There's nothing more delightful!"

Today, at 8 years old, Jordy is back in a public school classroom - he had previously been homeschooled - enjoying life as a third grader. Crystal could not be prouder of her youngest son.

"Jordy doesn't have any fear. He's rambunctious and a little bit wild," Crystal chuckled. "I thought I wanted a girl and they all came out boys. I can't imagine anything else and am so excited for his future."