Family holds fundraiser to help find cure for son's rare disease

Mason Reiter of Livonia is an active 6-year-old boy who loves swimming, elephants and Star Wars.

But since infancy, he has suffered from an extremely rare genetic disease of the kidney and liver that causes the formation of painful kidney stones. Currently, the only available treatment for the disease, called primary hyperoxaluria, is a combined kidney and liver transplant, which can lead to severe complications.

“If you saw Mason, you wouldn't know he has a genetic disease,” said Alison R. De Noia, project manager of the Oxalosis & Hyperoxaluria Foundation. “Mason loves to run, jump and play with his friends. He always has a smile on his face when you meet him that will warm your heart.”

But when a stone passes, it causes him so much pain that he has fainted in the past. And doctors say Mason's kidney can crystallize and fail at any time, with no warning.

“No child should have to suffer this way,” De Noia said.

Mason's family members are hoping for a cure.

To that end, they will host the inaugural “Take the Challenge Walk for a Cure” in honor of Mason at 1 p.m. Sunday, Sept. 25, at Wayne County Parks' Nankin Mills in Westland.

“We need to A) raise dollars and B) raise awareness,” said Mason's mom, Nancy Reiter.

All proceeds will benefit the OHF, the only foundation in the world dedicated to finding a cure for hyperoxaluria. The OHF also funds the Hyperoxaluria Center at the Mayo Clinic, which treats Mason. “They are the specialists in this disease. We want to keep that center open,” Reiter said.

Reiter said awareness needs to be raised because the disease is so rare, health professionals at local hospitals don't know about it and don't know how to treat the complications that arise from it.

For example, Mason has been treated locally for pneumonia four times because of breathing problems. “He was on medication and the levels weren't correct,” his mother said.

Mason passed his first known kidney stone at age 15 months. But there was at least one time before that that his mother suspects he passed a stone. “He screamed to the point where he fainted,” she said. “He was in a walker. I had no idea; I thought maybe his finger was pinched.”

After Mason was diagnosed at age 2'ªø1‚-2, doctors put him on a low-oxalate diet, which means avoiding foods like chocolate, and ordered him to drink two liters of fluid a day. He goes for ultrasounds every four months and blood draws about every eight weeks.

“The scary part of this disease is dialysis doesn't work. The kidney actually crystallizes,” Reiter said, explaining that patients with Mason's disease produce large levels of oxalate because of a missing liver enzyme.

“We hope with increased fluids, we can keep the kidney working,” she said, adding Mason already has reduced kidney function. She said doctors have told them they may not have any advance warning of kidney failure. “He could get the flu at school and if it dehydrates, he could go into failure.”

According to De Noia, all patients with primary hyperoxaluria have kidney stones, 50 percent have kidney failure by age 15 and 80 percent have kidney failure by age 30.