MARBLE FALLS — High levels of protein in his urine — that’s what the doctor told Nik Schappe in 2005. "It meant my kidneys were failing," Nik said.
"He was 34 years old and his kidney failed. How? Why? We had all these questions," wife Freda Schappe said. "We didn’t have any answers."
Nik, underwent almost a year of tests before a kidney biopsy revealed four possible causes — including Fabry disease, a rare genetic disorder with multiple symptoms that lead to renal failure, fatigue, cardiac issues, stroke and burning pain in limbs.
Now, four years after countless ups and downs, numerous hopes and disappointments and major lifestyle upheavals, the Schappes focus on one thing — getting through this as a family.
"We couldn’t give up," Freda said. "We were talking about his life."
And thanks to a father’s generosity and a mother’s selfless sacrifice, Nik and Freda are entering a future that looks a little brighter since Feb. 19.
But first there were challenges to overcome, including his mother being diagnosed with the same disease and his father’s fight to beat cancer before donating a kidney.
In retrospect, the signs were there in his youth — painful fingers and hands during childhood soccer games, just for starters. But Nik never knew a genetic disease plagued his body until in 2005 when the Austin firefighter noticed his left ankle and foot swelling.
"But it came and went," he said.
Then one night, Nik was sitting at a computer desk when he felt intense pressure in his ankle and foot. He pulled his leg back and stared down in disbelief.
"My foot and ankle were about the size of a Big Bertha (golf club)," Nik said.
After a few tests, the doctor told Nik the amount of protein in his blood was higher than normal.
"That’s a textbook example of kidney problems," Freda said.
After that night, the next year of the Marble Falls couple’s life became one of tests, questions and few answers, usually followed by more questions.
Finally, a nephrologist did a kidney biopsy.
"It came back with four possibilities — one of which was Fabry disease," Freda said.
Even as it became clearer that Nik suffered from Fabry disease, they were left still with a lot of questions and handed some misinformation. One doctor told the Schappes that Nik’s kidneys were operating at 40 percent of their capability. Though it’s significantly less than normal, the physician told them since it took 34 years for the organs to deteriorate to that level, then Nik probably had some time left before they became much worse.
A second opinion a few months later revealed Nik’s kidney efficiency had slipped to 10 percent — clearly life threatening.
Medical research journals note that Fabry disease is so rare, it is often misdiagnosed.
The two managed to learn more about Fabry only through "God looking out for us," Freda said.
A friend in Colorado was having dinner with a retired pathologist and told him about Nik’s health issues. The doctor asked her what Nik had been diagnosed with.
"She told him he probably had never heard about it," Freda said. It turned out the doctor was not only familiar with Fabry, he’d diagnosed a woman with it.
Thanks to that connection, the Schappes began networking with other patients and physicians.
"(Doctors) basically get a paragraph in their textbook about it," Nik said.
Through their new support network, the Schappes learned that pharmaceutical company Genzyme was pioneering treatments in renal failure, including Fabry. In 2005 Genzyme introduced Fabrazyme — the only current treatment.
Along with the treatment, Genzyme stepped forward to provide something else the couple so desperately wanted — answers.
Fabry, they learned, was a genetic disease that showed up aggressively in males typically when they reached their late 30s to early 40s. Nik’s father Jerry Schappe never had any renal issues, so they turned their attention to Nik’s mother Doris Schappe and her side of the family.
Genzyme flew down several experts on the disease and hosted a dinner at the IBC Bank in Marble Falls for 34 of Nik’s relatives on his mother’s side.
"Of the 35 people in the family, there were only three that were not at risk," Freda said.
The screening determined that none of Doris’ siblings had the disease, so they couldn’t pass it on to their children. But Doris and Nik’s sister did.
Though his sister hasn’t begun treatments, Doris started the biweekly Fabrazyme infusions along with Nik.
"I don’t have any major organ damage," Doris said. "I’ve had symptoms of the disease, but the symptoms are also symptoms of other diseases. Until Nik started having kidney problems, I didn’t even know I had it."
Living with Fabry disease
For Nik, the most pressing need following his kidney-failure diagnosis was dialysis. Doctors recommended peritoneal dialysis, where a catheter is attached to the body through the abdomen wall.
"Peritoneal dialysis works best for me and my job," Nik said. While he is an Austin firefighter, Nik works in the dispatcher’s office.
The move to peritoneal dialysis came with some bumps. After surgeons installed the catheter, Nik became sick until the incision healed.
"He went catatonic at one point," Freda said.
"It was the worst month of my life," Nik said.
Nik’s nerve endings weren’t getting enough oxygen. When the pain hit, it came hard.
"I would come in and find him on the floor writhing in pain," Freda said.
Eventually physicians were able to modify his medication and prescribe pain killers to relieve much of the pain.
Freda, who had been a computer programer traveling up to four days a week, started staying closer to home. She began selling Mary Kay products and also became a certified dog trainer.
Mom and dad make sacrifices
Once Nik’s initial condition stabilized, the couple began exploring the one option that could give Nik his life back — a kidney transplant.
He didn’t have to look far to find a possible donor.
"I was an obvious choice," his father Jerry Schappe said. "And I didn’t hesitate."
Jerry underwent the screening process in 2007 to determine if he could give a kidney. While almost everything looked good, doctors noted a high prostate-specific antigen. This led to a prostate biopsy.
"I had cancer," he said.
"But they caught it extremely early," Nik said.
"They would never have found it in the normal testing," Jerry said. "Had I not gone through the (transplant) screening, they would not have caught it that early."
Jerry opted to have his prostate removed.
But this meant his transplant viability was shot since a candidate must be cancer free for at least two years under the hospital’s guidelines.
Hopes crashed for the Schappes.
A few other people interested in donating a kidney to Nik weren’t viable either.
"I’ll be honest. We went through a bout of depression," Freda said.
Eventually, Nik sought help. During this period, Freda learned that Scott & White Health Center in Temple would allow Nik to get on their transplant list even if he was on another one.
Genzyme limits treatment medication
Last summer, Nik and Doris learned Genzyme had to shut down the manufacturing of Fabrazyme due to possible contamination of its facility. So the company notified Nik and Doris that they would have to cut back on the biweekly treatments to conserve the drug’s supply.
Without the regular infusions, Nik’s health could seriously be in jeopardy. So the woman who gave birth to Nik decided to make one more sacrifice for her son. In October 2009 she gave up her treatments so Nik could still stay on his scheduled infusions.
"I said I needed Nik to have this," she said. "Without this, he dies."
After more than two years of being cancer free, Jerry resubmitted to the transplant screenings in December 2009 — this time through Scott & White in Temple.
The end game
In January, the phone rang in Nik and Freda’s Marble Falls home. It was somebody from Scott & White. They had a date and time available for the transplant surgery.
Nik laughed when he recalled the conversation.
"I said, ‘What’s the earliest date?’ They said, ‘Feb. 19.’ And I said, ‘Book it.’"
There was some hesitation on the other end of the phone. Nik said the caller asked whether he should check with his dad.
"’No,’ I told them, ‘he’s retired and he can go any day."
Jerry laughed, shrugged and smiled. "It’s true."
On Feb. 18, Nik, Freda, Doris and Jerry drove to Temple where the father and son checked in to the hospital. The next day, Jerry underwent four hours of surgery, starting at 8:30 a.m. as Dr. Patrick Lowry removed his left kidney by a laparoscopic procedure. Nik’s surgery started a few minutes after that, lasting about six hours.
When it was done, Nik went into the intensive care unit for a few days before being transferred to a regular room. Jerry returned home Feb. 23.
"I couldn’t wait to get home," he said.
The doctors told the family that things looked good with the transplanted kidney. Some of the medication gave Nik nausea, but by Friday Doris said things seemed to have leveled out for her son.
"If things go OK, he may be able to check out Saturday (Feb. 27)," she said. "(Freda and Nik) have a hotel room near the hospital so they’ll probably stay there the first night. That way if he doesn’t feel right, the hospital is right there. But if that goes all right, they could be home by Sunday (Feb. 28)."
When Nik learned the hospital gave him and his father a thumbs up as recipient and donor, he thought of something he hasn’t been able to do since the catheter was put in.
"The thing I’m looking forward to the most is going swimming," he said before the surgery. "That’s one of the reasons we moved here. But I haven’t been able to enjoy the lakes for so long now. Hopefully that all changes."
"Yeah, things are looking a lot brighter now," his wife said. "It won’t be smooth all the way, but it will be better. If it hadn’t been for our family and our faith — I don’t know how we would have got this far."