A head-scratching set of symptoms. A boy who may be in grave danger.
Can researchers solve this medical mystery before it’s too late?
Xander Auld was not a fussy baby. He slept well, at least for an infant. He didn’t get sick often. And on those few occasions when he did, he didn’t carry on much.
Not long after his first birthday, Xander ran a fever for a couple of days. As usual, he seemed pretty even-keeled. But it was a Friday, and his mother, Felicia Gamble, thought she’d better take him to see the doctor before the weekend.
When the pediatrician examined Xander, she noticed red, dry patches of skin dotting his legs. Felicia hadn’t thought much of the blotches, which he’d had since he was an infant. Another doctor had diagnosed them as eczema and prescribed a topical cream, which Felicia had been dutifully applying ever since.
Still, the pediatrician was concerned. She ordered a blood test. When the results came back, the doctor told Felicia that her son had a condition called polycythemia. “I was terrified,” remembers Felicia. “I had no idea what that meant.”
Xander’s blood, the doctor explained, contained an abnormally high level of red blood cells. These are the cells in the blood that carry oxygen from the lungs to the rest of the body. But in excess, they can cause the blood to grow overly thick, increasing the chance of cardiac events. So the pediatrician referred Xander to a physician specializing in blood disorders at the Children’s Hospital at OU Medical Center in Oklahoma City.
At the hospital, the intake exam revealed a new concern: high blood pressure. In conjunction with his red-blood-cell levels, Xander’s hypertension put him at risk for stroke. The doctor immediately admitted him to begin treatment.
After a restless night in the hospital—Felicia eventually climbed into Xander’s oversized crib to help him sleep—the blood pressure medication seemed to be working. Still, doctors had no idea what was behind Xander’s condition. And a CT scan soon revealed another symptom that only served to deepen the mystery: small growths, or “micro-cysts,” on Xander’s kidneys, pancreas and stomach.
The rush of developments was dizzying for Felicia and Xander’s father, Matt Auld. In the blink of an eye, it seemed, their son had gone from a healthy toddler to a patient facing grave health challenges. “It felt so unfair,” Felicia recalls. But, she says, they quickly dried their tears. “We knew we had to tackle this, to do whatever’s best for Xander.”
What was best, it turns out, would be far from clear. But the search for answers would lead them on an odyssey they never could have imagined.
The National Institutes of Health define a rare disease as one that affects fewer than 200,000 Americans. In statistical terms, that comes out to .06 percent of the population, or one in every 1,600 or so people. Yet with physicians and scientists now having identified more than 6,000 such conditions, the total number of people in the U.S. suffering from rare diseases is estimated to be 25 million.
A federal law known as the Orphan Drug Act created incentives for pharmaceutical companies to develop drugs for rare diseases. That, along with advances in DNA sequencing technologies that have enabled scientists to identify genetic abnormalities more easily, has spurred increased interest in conditions that once would have gone unnamed and untreated. Plus, the Internet and a growing number of disease societies focused on rare conditions have enabled people and families who once felt isolated to find communities of people grappling with the same issues.
Still, for Felicia and Matt, the quest to understand their son’s condition proved lonely and frustrating.
After Xander was released from the hospital, he underwent a host of follow-up assessments. Doctors searched his tiny body for more lesions. They tested him for a rare genetic disorder known as Von Hippel Lindau syndrome, which is associated with tumors in multiple organs. They outfitted him with a hospital-grade monitor to track his blood pressure. None of it, though, brought Xander’s medical team any closer to a diagnosis.
At the time, Felicia and Matt were both in their early 20s. They and their two sons (Xander was the second of three boys they would have together) were living with Matt’s father in Shawnee and driving regularly to Oklahoma City to see a string of different physicians. Eventually, the parade of doctors’ visits, tests and medical expenses threatened to overwhelm them. “We were worried about Xander. And we were worried about whether we could afford to pay for it all,” says Felicia. “It was so stressful.”
Because a one-year-old wouldn’t stay still for the sensitive machinery physicians used to probe his condition, each medical test—and there were many—required doctors to put Xander to sleep. The anesthetics, recalls Felicia, caused “adverse reactions. He would flail. It was terrible.”
And then there were the phlebotomies.
Even with medication controlling his blood pressure, due to his elevated hemoglobin levels, Xander remained at high risk for cardiac events, especially stroke. With no answer to why the toddler’s body was producing excess red cells, his physicians could only treat the symptoms. That meant regularly extracting several vials of blood from his small body.
Felicia still shudders when recalling the sessions, which took place every one to three weeks. “Phlebotomizing a one-year-old,” she says, “is no fun.”
With one of his parents attempting to hold him still, a nurse would insert a needle into a vein in Xander’s arm. As he squirmed and wailed, the nurse would pull back on the syringe’s plunger to extract the blood. “It required so much physical pressure to get the blood out that the nurse’s arm would be shaking.” And getting Xander’s red cells down to acceptable levels required extracting multiple syringes worth of blood. “Sometimes, they would poke him five or six times to get everything they needed.”
Scar tissue eventually dotted Xander’s forearms. As he grew older, “It became a struggle every time we had to get him to the phlebotomist,” remembers Matt. “He would scream and yell and hide in a corner.”
Things only got worse when they arrived at the appointment. “It took a few nurses to hold him down,” says Felicia. “He’s crying. I’m crying. It was awful.”
Meanwhile, Xander’s physicians struggled in vain to figure out what, exactly, was driving his elevated blood pressure, red-cell levels and cyst-like growths on his organs. Although an ongoing battery of tests and scans failed to point to the root of Xander’s condition, over time, they did seem to indicate that not much was changing. His blood pressure remained controlled. The cysts didn’t appear to be growing larger or spreading. And while he dealt with asthma, allergies and repeated cases of strep throat that led to the removal of his tonsils and adenoids, he otherwise seemed to be a healthy, happy child.
Years passed. Xander began elementary school. He started playing tee ball and, soon after, basketball. The doctor’s visits grew less frequent. Around the time Xander turned six, Felicia and Matt stopped the blood draws. They waited to see if anything changed.
They breathed a deep sigh of relief. Maybe, they thought, we can just forget this whole chapter of Xander’s life. And for a while, they pretty much did.
Dr. Patrick Gaffney began his medical career as a hematologist, diagnosing and treating patients with blood diseases. But his career took a turn when a research fellowship led him to the study of autoimmune diseases, conditions in which the body mistakenly turns the weapons of its immune system against itself. In particular, he focused his research on the genetic roots of conditions like lupus.
“Most diseases are caused by a combination of the genes we inherit from our parents and environmental factors like substances we’re exposed to, the food we eat and our exercise habits,” says Gaffney, who holds the J.G. Puterbaugh Chair in Medical Research at OMRF. “My research centers on the role of the genes.”
At OMRF, Gaffney established a “next-generation” DNA sequencing facility in 2009. Using an array of sophisticated analytical equipment, he and his research team could perform scans of people’s genes at speeds and costs that, only a few years before, had been unimaginable. “We saw the power inherent in this technology,” says Gaffney. “And almost immediately, we got interested in studying conditions outside the realm of autoimmunity.”
Specifically, he wanted to use his sequencers to decode previously unexplored genetic questions. So, Gaffney reached out to the OU College of Medicine. “I knew that would be the gateway for patients coming in with undiagnosed rare diseases.”
There, a genetic counselor introduced him to Dr. Klaas Wierenga, who holds the McLaughlin Family Chair in Genetics. A recent transplant from the University of Miami, Wierenga specializes in diagnosing and treating young patients affected by rare conditions caused by mutations in their DNA.
The vast majority of serious childhood illnesses occur in three ways. Infectious agents (chiefly viruses) cause conditions like mumps, measles and whooping cough. Meanwhile, diseases like childhood leukemia and juvenile diabetes are brought about by factors that scientists don’t yet fully understand but, most likely, consist of some mix of genetics and environment. Finally, researchers have identified another group of conditions—perhaps the best known are cystic fibrosis and sickle cell disease—where an alteration in a gene is responsible for the disease.
When primary care physicians can’t fit a child’s particular collection of symptoms into one of those three boxes, they’ll refer the patient to a pediatric geneticist like Wierenga. The suspicion is that the child may be suffering from some rare or unknown genetic disease. But, says Wierenga, “Not every patient who walks into my office has a genetic disorder.”
His role is like that of a medical detective. Or, as he puts it, “What I do is a more cerebral version of testing someone with a sore throat.”
Using tools like medical records, tests of the patient and family members, and interviews about family history, Wierenga attempts either to establish or rule out that a child is suffering from symptoms caused by a genetic mutation. For years, he relied largely on what he calls “pattern recognition,” trying to tease out details from different sources to help form a coherent diagnostic picture. Still, even when he felt relatively certain that he’d pinpointed a DNA mutation responsible for a child’s condition, he hesitated. “Even if I was convinced a patient had a genetic disorder, I’d make a diagnosis only 30 percent of the time.” That, however, began to change with the advent of sophisticated genetic sequencing facilities like the one Gaffney established at OMRF.
The human genome consists of 3 billion nucleotides or “letters” of DNA. But only a fraction—less than two percent—of those letters are actually translated into proteins, the functional players in the body. Using a technique known as exome sequencing, Gaffney could isolate and analyze that part of the genome that tells cells how to build all the proteins in the body. It’s in this precious real estate that errors leading to genetic diseases typically occur.
“Up until exome sequencing, you’d have to do other, less specific tests,” says Gaffney. Even when results pointed to a genetic culprit, physicians often could not be sure. “But with the advent of exome sequencing, you could conclusively identify mutations.”
Nevertheless, with a hefty price tag and limited utility for the lion’s share of cases, insurers were reluctant to pay for exome sequencing. This left the test beyond the reach of physicians like Wierenga. “While geneticists realized how important it was, it was not a clinical test that was routinely available for patient care,” he says.
So, when Gaffney asked him if he’d like to collaborate, Wierenga jumped at the chance. Bring me some head-scratching cases, said the OMRF researcher, and I’ll test them. Gaffney also volunteered to use funds from his own research account to pay for the testing.
In essence, says Wierenga, “Pat was sitting on a gold mine.” And he’d just handed the physician a pickaxe and a license to chip away.
Wierenga soon found his first case for Gaffney: a 10-year-old girl who’d suffered from a bleeding disorder since birth. “When she was just a baby, she would bleed spontaneously from the mouth,” says the girl’s grandmother. “She didn’t act sick, but she would bruise so easily.”
The girl also had weakness in the muscles close to the midline of her body, and her eyes lacked the ability to control the pupils. Wierenga recognized this trio of seemingly unrelated symptoms as Stormorken syndrome, a condition named for the Norwegian scientist who’d first identified it. With only a handful of cases, the illness was seldom seen. But when it had been previously found, the patient was not alone in the illness; a parent had also been affected. Here, though, neither of the girl’s parents exhibited symptoms.
Due to previous cases, scientists were already confident that Stormorken came about because of an alteration in a specific gene. In those instances, a parent had passed that defective gene on to a child. Now, it seemed, Wierenga had found a situation in which the gene had spontaneously mutated at conception, causing the condition. “That’s when a geneticist’s heart starts beating faster, because we think this might be something we can more easily solve,” he says.
The reason for Wierenga’s excitement was that the spontaneous genetic change might enable him to place his finger on the exact letters of the DNA responsible for the condition. That’s because, unlike in previous cases, this portion of the child’s genome would differ from the comparable strands of her mother’s and father’s DNA. And with Gaffney’s help, he could now put the evidence under the proverbial microscope.
Using exome sequencing, Gaffney and OMRF’s Dr. Graham Wiley compared genetic samples donated by the girl with those of her unaffected family members. With this technique, they narrowed their analysis to the 180,000 or so protein-producing letters of DNA. There, they found three promising “hits,” areas in which the patient’s sample differed from those of her relatives. After comparing the girl’s DNA with that of a Stormorken patient from Switzerland, they eliminated two of those candidates—and established that the third gene showed a common mutation.
The research, published in the journal Proceedings of the National Academy of Sciences, broke new scientific ground. It definitively identified the gene responsible for this rare condition. The study also included follow-up research by Wierenga’s colleagues at OU that helped explain the cellular mechanisms by which the altered DNA caused the particular symptoms of Stormorken syndrome. Still, the findings didn’t allay any of the medical problems experienced by those with the condition. It didn’t change anything about how Wierenga or other physicians treated their patients moving forward.
The OMRF researcher and the OU physician continued their partnership. For some patients, they identified the genes responsible for the rare diseases that affected them. For others, they delivered something that had, up until that point, been elusive: an authoritative diagnosis.
With conditions that cannot be easily categorized or identified, says Wierenga, “just having a diagnosis can be a success.” That definitive diagnosis, which often comes after a years-long medical odyssey, “can really help the family.” It changes the focus from “What’s wrong with my child?” to “Let’s explore the available treatment options.”
Gaffney also found satisfaction in solving unanswered questions and bringing certainty to patients and their families. “I originally went into medicine to take care of patients,” he says. “So I enjoy helping them work through disease.”
But, perhaps, he imagined, his work with Wierenga could still go a step further. One day, they might find something that could change a patient’s life.
Xander Auld’s life, meanwhile, seemed just fine the way it was. A rambunctious kid with big brown eyes, he liked to crack jokes and goof around with his friends. He loved sports and spent lots of time on the baseball diamond, football field and basketball court. In his group of friends at Surrey Hills Elementary in Yukon, where he’d attended since pre-kindergarten, he seemed like a natural leader.
The doctors’ visits had grown less frequent, to the point they almost seemed invisible. Yes, the annual check-ups with specialists continued, but nothing much seemed to change. And the phlebotomy sessions were but a distant memory.
But around the time Xander began middle school, one of his physicians, Dr. Alecia Hanes, expressed concerns about his red-cell levels. When Xander saw his hematologist at OU, Dr. William Meyer, “He said we really needed to get them down,” says Felicia. That meant a return to regular blood draws.
Xander was less than enthused. “It was a rough start getting him to phlebotomize again,” says Matt. He and Felicia had divorced, so they took turns bringing Xander to his phlebotomy sessions, which, once again, came at one- to three-week intervals. However, by then a preteen, Xander quickly adjusted.
“It just became a part of life,” says Felicia. Where once he’d screamed and wriggled, he’d, instead, stoically extend his arm for the nurse. “All he’d say was, ‘Just count to three before you stick me,’” says Felicia. As they’d sit in the doctor’s office, mother and son would see other patients, often children suffering from cancer. Many were visibly struggling with illness—some gaunt, others bare-scalped from chemotherapy. “I’d say to Xander, ‘I know this stinks,’” recalls Felicia. “ ‘But you’re lucky.’ ”
Meyer, though, was not content to leave Xander’s future to chance. A hematologist, he’d been the primary care provider for the 10-year-old Stormorken patient. He’d referred her case to Wierenga, his colleague at OU, who’d worked with OMRF’s Gaffney to find the roots of her illness. Perhaps the geneticist could also piece together Xander’s puzzling case.
With Xander’s persistently elevated red-cell levels, Wierenga suspected a hereditary condition. There were four known genes associated with the syndrome, which was called familial erythrocytosis. At that time, 2013, the only laboratory that could test for the condition was in Germany. Because its work wouldn’t be covered by insurance, that turned out to be a nonstarter.
Instead, Wierenga ran a series of other tests. Once again, though, they failed to offer any real answers.
Xander continued his phlebotomies and kept seeing Meyer. Then, in 2016, the test for the hereditary blood condition became available in the U.S. Now 13, Xander came in and gave a blood sample, but the results came back negative. Wierenga got the same outcome when he re-tested the teen for another rare genetic disorder.
“We had an erythrocytosis disorder”—one associated with the excess production of red blood cells—“and all the genes ordinarily associated with the disorder are negative,” says Wierenga. Plus, the small growths on Xander’s kidneys remained, as did his high blood pressure. Wierenga was worried. And stumped. But then he had an idea.
“I thought, ‘It’s time to talk to Pat.’”
Gaffney agreed to lend his expertise. The best hope, he and Wierenga thought, was to perform an exome sequence on Xander and all of his direct family members. That way, they could do a deep dive into any potential genetic differences between him and his mother, father and two brothers, none of whom appeared to share any of Xander’s symptoms.
For Xander, one more test was no big deal. Not so for his younger brother, Landon. When the 10-year-old went to Wierenga’s office—along with Matt, Felicia, Xander and his oldest brother, Isaiah—“he was scared,” says Felicia. Still, knowing it could help his brother, he bravely allowed Wierenga to extract blood from his arm.
Working with Graham Wiley at OMRF, Gaffney processed the blood samples. Then he shared the results with Wierenga, and the two of them began sifting through the data.
Studying the results of an exome sequence can be like trying to examine individual flakes in a snowdrift. While the test narrows the analysis to two percent of the human genome, that still leaves almost 30 million letters of DNA to analyze. And here, Gaffney and Wierenga were not only comparing each of Xander’s letters to its counterpart in a typical “reference” human genome; they were also cross-referencing it against the four other data points generated by each of his family members. In total, that left the pair to study and compare more than a million data points. Not surprisingly, it proved slow going. “We looked at exome data for a long time and made very little progress,” says Wierenga.
Fortunately, Gaffney’s software allowed users to sort the test results into different bins. One Saturday night, with the case still haunting him, Wierenga decided to sift through the bin—shown on his computer as a column of figures in a spreadsheet—that contained every “pathogenic” gene variant in Xander’s results. These are regions of the DNA where Xander had a different letter than the typical genome, and that particular variation was known to be damaging to the gene.
Wierenga found his eye drawn to a gene that coded for an enzyme called fumarate hydratase. “I knew this gene. It’s associated with renal-cell carcinoma,” a malignant cancer of the kidney. Xander’s copy of this gene differed from the reference genome. Wierenga sent a text to Gaffney.
From his training as a hematologist, Gaffney was also familiar with fumarate hydratase. He knew the enzyme played a key role in metabolizing food products and extracting energy from them. “But if this enzyme is not working, it triggers a chain of events that leads to an increase in oxygen-carrying red blood cells.” Xander’s mutation in this particular gene, Wierenga and Gaffney both thought, could lead his cells to believe mistakenly that they lacked oxygen. As a result, his body might respond by producing more oxygen-carrying red blood cells—even though he didn’t actually need them.
Then, there was the link between the mutated gene and kidney cancer. Xander’s kidneys had for many years exhibited tiny, cyst-like growths. Perhaps, thought Wierenga, “there was something cooking in the kidney” that was driving the red-cell production.
With the mutation in the fumarate hydratase gene came a heightened risk of kidney cancer. At 15 percent over a patient’s lifetime, the increase was relatively small. And in those patients who ultimately developed the cancer, it typically didn’t occur until they were in their 50s or 60s. So, Xander seemed at relatively low risk. Still, says Wierenga, “The typical recommendation with this mutation is to get the kidneys checked regularly.”
Xander had undergone regular ultrasounds of his kidneys, which had shown no changes for many years. But Wierenga and Gaffney were concerned this wasn’t enough. After confirming the results with a second, independent lab, the pair presented their findings to Xander’s two primary physicians at OU, Meyer and Dr. Martin Turman, a nephrologist. “We wanted to make a case to have his kidneys imaged more aggressively and with different modalities,” says Wierenga.
Specifically, they pressed for an MRI, “which brings better resolution and more detail,” says Gaffney. By the end of the presentation, Meyer and Turman agreed. They would bring Xander in as soon as they could.
“We were excited but also concerned,” says Wierenga.
One particular worry gnawed at Gaffney. “I was afraid he’d have a malignancy.”
Xander had the MRI. When Turman received the results, he asked Matt and Felicia to come in. They brought Xander with them.
”Dr. Turman said the MRI had found fatty tissue,” Felicia recalls. That seemed innocuous enough. “We weren’t even worried about it,” she says. But, Turman explained, the MRI had revealed a tumor in Xander’s kidney. It was cancer.
Felicia began to sob. With Xander beside her, she did her best to regain her composure.
Turman explained that Xander would need surgery immediately. Then the physician asked Xander if he had any questions.
“So, I have lung cancer?” the teen asked.
“No, baby,” said his mother, “it’s in your kidney.”
Xander began to cry. Eleven days later, OU urologists Dominic Frimberger and Mohammad Ramadan removed his right kidney.
Before the surgery, additional scanning had shown a cancer that was about four centimeters in diameter, roughly the size of a golf ball. The tumor was malignant and fast-growing, but it had been contained in his right kidney and had not yet spread to other parts of his body.
The surgery took several hours. The waiting room at Children’s Hospital was filled—Matt, Felicia, both their families, Felicia’s husband’s family—with people wearing “Team Xander” tees. The surgeons eventually emerged to tell Felicia and Matt that the procedure had gone well.
When Xander awakened, he was groggy from the anesthesia and in a good deal of pain. Still, the first words he said to his parents were, “Will you please tell the doctors thank you?”
Xander had imagined that recovery would be seamless. “He thought he was going to eat Buffalo Wild Wings right after surgery,” laughs Matt. “That didn’t happen.” Still, he was able to leave the hospital after two days. Three weeks later, he was back at school.
He underwent a single phlebotomy after surgery. When doctors did follow-up testing, his red-blood-cell count had decreased to a normal level. And it’s remained there ever since—without a single phlebotomy.
Similarly, after a few months, Xander’s blood pressure dropped. It fell so much that his doctors took him off all blood pressure medications.
Since that time, Xander has grown several inches and put on 20 pounds or so. With the phlebotomy sessions behind him, he no longer misses class regularly. He continues to take medicines for his allergies and asthma, but that’s it.
This past fall, he began his freshman year at Yukon High School. Like his older brother, Isaiah, he’s joined the swimming team. His coach tells him that his breast stroke is really coming along.
On a sunny day in November, Felicia, Matt and Xander are gathered around a table in a conference room at OMRF. It’s their first visit to the foundation.
“We never knew this existed,” says Felicia. Even when Gaffney had sequenced all of their exomes, “All we knew is that Dr. Wierenga had found somebody who’d do this for research, so it wouldn’t cost us anything.”
Xander sits quietly as his parents talk about his medical odyssey. Now 14, he wears shorts, which reveal long, spindly legs. His light brown hair peeks out from a gray hoodie he’s pulled over his head. It’s mid-morning, but his eyelids still seem to hang at half-mast. It’s hard to tell if he’s sleepy, wary, or a little bit of both.
For him, the process leading up to the surgery had been something of a blur. “It happened really fast.” When Turman told him about the tumor in his kidney, he says, “I didn’t really care.” But then, “I saw Mom crying. And that’s when I started to cry.”
Still, he claims, the prospect of having his kidney removed didn’t frighten him. “I didn’t think about it. I knew I was going to get it out.” When he awoke, he remembers being pushed on a gurney through a network of tunnels in the OU Medical Center “and going over all those freaking bumps.”
As soon as he returned to school, he says, “I felt normal.”
And how about now—does he feel in any way different from other kids?
He shakes his head.
Felicia looks at her son and rolls her eyes. “I think you think it’s cool to act like you don’t care.” She pats his knee.
But the reality, she says, is that he is different. He had a genetic mutation that fueled the growth of cancer in his right kidney. “We stay on top of the scans,” she says. That means MRIs of his remaining kidney every four months.
“The doctor told us early last week there was a small change,” adds Matt. “Some growth.”
“I have been really worried about it,” says Felicia.
Right about then, Gaffney enters the room. It’s the first time the OMRF researcher has met Xander and his family.
Gaffney explains a little bit about his work and about Xander’s case. Matt, it turns out, has the same gene variant as his son, but he’s never shown any symptoms. Why? “We just don’t know.”
It’s this kind of ongoing unknowability that keeps Felicia awake at night. “I don’t know how this gene mutation works.” With each new MRI, she says, “I get super nervous about the results.”
Still, the discovery of the mutation and the ensuing surgery have been “life-changing,” she tells Gaffney. “I am so thankful for your research.”
“It could have been really bad if you didn’t catch it when you did.”
A few days later, Gaffney and Wierenga meet. It’s a Friday afternoon, a time when the pair customarily gets together to go over their projects. As usual, it’s in Gaffney’s office, where he stands (not sits) at his desk, in front of photos of his wife and three children and a row of champagne bottles, each of which commemorates a successful grant application. But the main décor is a whiteboard, covered in magic marker drawings of cells.
They discuss cases until, eventually, Gaffney turns the conversation to his meeting with Xander and his family. “I was a little nervous,” he admits. “I didn’t want to say anything and have them say, ‘Well, none of the doctors told us that.’”
But, he says, the session soon felt a bit like riding a bicycle. “This is what I used to do when I was practicing, to help patients work through diseases. So, it was rewarding for me to put faces on the genetics.”
Playing genetic detective, says Wierenga, isn’t always satisfying. “Only rarely do you get a diagnosis where you can change the course of care. In many cases, the options to make life better after a diagnosis are limited. You give an etiologic answer”—a name for the condition that afflicts a patient—“and a community of families to share.”
But Xander’s case, he says, “was quite overwhelming, in a way that’s very unanticipated and very gratifying. Neither of us realized the urgency of what we were accomplishing. All of sudden, it wasn’t a research project anymore.”
Gaffney nods. “We really made a tangible impact on the clinical care of a patient. We triggered a chain of events that ended up helping this family.”
No more phlebotomies. No more hypertension. No more cancer. “He can just be a normal kid,” says Wierenga.
Continued vigilance for his other kidney, they agree, is a must. But even if a cancer grows there one day, Wierenga says, “We have solutions for that, too.”
“Yes,” chimes in Gaffney. “People live very productive lives with renal transplants.”
As a physician and researcher, he knows a kidney transplant carries a much brighter prognosis than metastatic cancer. Still, for Matt and Felicia, “We’ve sort of replaced one set of worries with another.”
Now it’s Wierenga’s turn to nod. “Yes, there’s still something missing, a piece of the puzzle that escapes us so far.”
The conversation meanders for a few minutes. They discuss potential next steps. Maybe they should analyze a genetic sample from the tumor itself. But, soon enough, Gaffney’s thoughts return to the family.
Not the case. Not their genes. Just the people.
“Xander’s a typical 14-year-old kid. And his mom and dad were genuinely appreciative about what happened.” He waits a beat, maybe two. “But this is not over for them.”