Brother of Joliet teen with rare kidney syndrome now has same disease

In August 2020, 14-year-old Lizzie Reyes of Joliet went into end-stage kidney failure and soon afterward was diagnosed with a rare kidney disorder.

And now, her 18-year-old brother, Nicholas Reyes, who was born with one kidney, has been diagnosed with the same disorder: Nephronophthisis.

Their mother, Stacey Reyes, said she’s never met anyone with this disorder – not in all the social media groups in which she participates – who have only one kidney.

“I feel like it’s such a rare situation,” Stacey Reyes said. “It blows my mind.”

Nephronophthisis is a cystic kidney disease that is the most frequent genetic cause of end-stage kidney disease in people 30 and younger, according to the Journal of the American Society of Nephrology. Unlike patients with polycystic kidney disease, those with NPHP have either a normal or slightly diminished kidney size.

But the landscape for kidney transplantation is different for Nicholas Reyes. Children often are prioritized for kidneys, which includes adults who were listed before their 18th birthday.

Because he’s 18, Nicholas Reyes doesn’t qualify for the transplant until his kidney function drops to 20%, Lizzie Reyes said. Dialysis often starts when kidneys function is less than 15%, according to the National Kidney Foundation, so Nicholas isn’t there yet, she said.

Lizzie Reyes had 10% kidney function when she had surgery for capital femoral epiphysis – and then a kidney transplant six weeks later on May 6, 2021, Stacey Reyes previously said.

“I don’t know how fast his kidney function will decline,” Stacey Reyes said. “It could be gradually over a year or drop suddenly. There is literally no answer.”

Stacey Reyes said the goal is to speed up the transplantation process for Nicholas Reyes and find a live donor, and she plans to be tested for a possible match. It’s not too soon to think about it.

“The live donation process is such a long process,” she said.

The National Kidney Foundation said a live donor transplant is the best option, and that people should start thinking about transplantation before dialysis begins.

No sign of trouble

Lizzie Reyes gave no sign she was in end-stage kidney failure. Stacey Reyes said she only noticed Lizzie Reyes walking with a slight limp, that her face looked thinner and her eyes seemed to bulge.

After a trip to the doctor and some bloodwork – run twice to be sure – Lizzie Reyes was hospitalized immediately in an intensive care unit and had a kidney biopsy, a blood transfusion and a PIC line for dialysis, Stacey Reyes previously said.

Lizzie Ryes was diagnosed with nephronophthisis Aug. 23, 2020, Stacey Reyes previously said, but a new kidney doesn’t end the health woes. Lizzie Reyes still sees doctors, has tests, takes medicine and doesn’t always feel her best.

For instance, Lizzie Reyes said she has pain in her hand, arm, shoulder, neck and head, and isn’t always happy she had the transplant, either.

“It’s not as difficult as getting connected to a machine for three hours, but everything that came with the transplant – it’s just sometimes dialysis seems easier.”

Still, Stacey Reyes said she is happy that Lizzie Reyes is getting to enjoy a normal teen life. She’s attending school and hanging out with her friends. She’s even gone to a couple of K-pop concerts.

By contrast, Nicholas Reyes was born with one kidney, but tests show that kidney was “perfectly healthy,” Stacey Reyes said. The family was instructed to monitor Nicholas’ kidney function through his primary care physician and told that people with one kidney typically live long, healthy lives.

That was the case until 18 months ago, when Nicholas Reyes’ kidney function began declining, Stacey Reyes said. Nicholas Reyes eventually underwent genetic testing, which pointed to nephronophthisis, a genetic disorder previously unknown to their family.

Stacey Reyes said she can’t believe two of her children will experience dialysis.“Dialysis is very hard on your body and very hard of your organs. We don’t want to go through that again.”

[ A kidney for Lizzie ]

It’s an unfortunate waiting game.

Stacey Reyes said nephronophthisis has no cure except for a kidney transplant, and doctors can do nothing to stabilize kidney function: no special diet, no medication, no procedures.

“Even if we knew of this five years ago, there was nothing we could do to prevent the kidneys from failing. They will fail regardless.”

The good news is that, except for occasional pain in the kidney area, Nicholas Reyes said he feels completely fine. He still works out at the gym and works full-time as a grocery lead at Tony’s Fresh Market.

And Nicholas Reyes is taking the news in stride.

“I’m not worried about; it’s in the future. It is what it is. I can’t really do anything about it.”

Stacey Reyes feels that’s not a bad attitude.

“We’ve all learned to live in the moment, to take one day at a time.”