Just days apart, two babies—Kenzlyn and Lakelyn— received a diagnosis of the same rare kidney disease: congenital nephrotic syndrome (CNS) of the Finnish type. CNS is so rare that Susan Massengill, MD, a pediatric nephrologist at Atrium Health’s Levine Children’s Hospital, has only seen a few cases in her entire career.
“This is such a rare disease and to have two infants diagnosed the same week was very unusual,” says Dr. Massengill. “Congenital nephrotic syndrome is a disease present at birth or within the first three months of life. Many babies with the condition are born prematurely and present within a few days to a week after delivery with swelling in their face, abdomen and legs.”
Treating congenital nephrotic syndrome
This disease is rare and challenging for families, particularly in the first several years. Children often experience growth and development issues, and the complication rate is high – but Levine Children’s, with one of the best pediatric nephrology programs in the country, is well-equipped to care for children facing this diagnosis.
Patients will need a kidney transplant, but before that, many patients need to have one or both kidneys removed if they have severe complications such as infections or blood clots or are growing poorly. They may also require dialysis before transplantation.
“Generally, children do quite well after transplant,” says Dr. Massengill. “Rarely, it can recur, but we have other therapies to treat such recurrence.”
Meet Kenzlyn
Katie O’Neil learned her daughter Kenzlyn had congenital nephrotic syndrome when her baby girl was just 10 days old.
“I woke up in the middle of the night to nurse her and she had little twitches on her right side,” says Katie. “When I swaddled her, I noticed they stopped, so I decided to keep an eye on her.”
Later that morning, the twitches grew stronger, so Katie called her pediatrician. The physician recommended she seek emergency care. Testing revealed Kenzlyn was having seizures and had several blood clots in her brain.
“We found out she’d had a small stroke on her left side, which may cause weakness later on, but she hasn’t shown any signs of it yet,” says Katie. “It was terrifying.”
After more tests and a phone consultation with Dr. Massengill, Kenzlyn was transferred to Levine Children’s Hospital.
“We got her diagnosis over the phone while we were still at another hospital,” says Katie. “Dr. Massengill explained that Kenzlyn will need a kidney transplant later on, likely by the time she’s 1.5 years old. She says the treatment depends on how each patient responds to their medications—everyone is different.”
Because of her condition, Kenzlyn is susceptible to edema (swelling), infections, blood clots and seizures. She currently gets five oral medications and one injection twice a day at home. Then, three times per week, she goes for five-hour infusions at Levine Children’s Hospital.
“Kenzlyn looks perfectly healthy from the outside,” says Katie. “She doesn’t have any physical symptoms. You would have no idea she’s sick.”
Katie says Kenzlyn has received excellent care at Levine Children’s Hospital.
“Everyone is amazing,” she says. “The nurses are so caring and everybody comes to see her when we get there. They know her by name and care about watching her grow up because she’s been going there since she was just 6 weeks old. Dr. Massengill and the entire care team are so good about explaining what’s happening.”
Lakelyn’s story
When Shelby resident Katie Burns was pregnant, she was admitted to a local hospital for severe preeclampsia (a pregnancy complication that causes high blood pressure) and then transferred to Atrium Health’s Carolinas Medical Center in Charlotte. Before her baby was born, her medical team performed an ultrasound and found that her baby’s kidneys were enlarged. After delivering her daughter prematurely, Katie learned baby Lakelyn had congenital nephrotic syndrome.
“She was six days old when we found out,” says Katie. “It was a lot to take in.”
Lakelyn’s medical team devised a treatment plan to manage this chronic disease. Now six months old, Lakelyn receives four-hour infusions three days a week at Levine Children’s Hospital.
The intense treatment protocol hasn’t been easy for Lakelyn and her family.
“We live an hour away, so we’re usually gone for about eight hours each time,” says Katie. “My husband and I do the best we can. We’re trying to balance caring for Lakelyn and giving our other two daughters the normal life they’re used to. It’s been a big change for us.”
She credits her family and community for their tremendous outpouring of support.
“If it weren’t for them, I don’t know what we would do,” she says.
Megan Yanik, MD, a pediatric nephrologist at Levine Children’s Hospital, is Lakelyn’s primary nephrologist.
“She’s been with us since Lakelyn was in the NICU,” says Katie. “Dr. Yanik and the nurses include me in Lakelyn’s care decisions as much as possible.” She adds, “The nurses at the infusion center are amazing. They’ve become like family. I can tell how much they love and care for Lakelyn. It’s nice to have a care team I trust and feel confident they’ll do whatever is in Lakelyn’s best interest.”
Katie says it could be two to three years before Lakelyn needs a kidney transplant and that she may require dialysis first. She calls her daughter “extraordinary.”
“Lakelyn is the happiest baby,” says Katie. “We love her and are always going to fight for her.”
Katie says she’s met Kenzlyn’s mom—also named Katie—once in person since their daughters receive infusions on opposite days.
“We talk every once in a while,” she says. “Our stories are different, but it’s been nice to know that somebody knows and understands what you’re going through.”
The outlook for congenital nephrotic syndrome
While there is no cure for congenital nephrotic syndrome and patients often require more than one kidney transplant in their lifetime, there is hope.
“Both infants had complications early on, but are doing well now," says Dr. Massengill.
“With an amazing medical team, these babies are receiving outpatient therapy three days a week for four to five hours each, but the remainder of the time they are at home with their families, which aids in their overall development.”
She adds, “Our hope for them is that they thrive as infants, kids and adolescents to achieve great things, but it takes a village. Having a children’s hospital with a multidisciplinary team and approach is crucial to the well-being and outcomes of these children. They must have access to critical care specialists, nephrologists, dietitians, social workers, psychologists and child life specialists.”
“We’re getting ready to re-transplant a 17-year-old young lady with this condition who we knew about from a prenatal diagnosis,” says Dr. Massengill. “She spent much of the first year of her life in the hospital, but after receiving a transplant, she has done fabulously and will graduate from high school next year.”
Learn more about kidney care at Levine Children’s Hospital.
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