After his son's mysterious death, a Wisconsin dad researched 6,000 rare diseases. Then doctors found the answer that saved his other child.

There had never been a Thanksgiving like 2009, not for Darrin and Sarah Anderson. 

That morning, the two weary parents drove 90 miles north from Children’s Hospital of Wisconsin in Wauwatosa to Oshkosh, where relatives waited to celebrate the holiday. Sarah Anderson kept checking behind her, relieved to see the child seat occupied. This time.  

There sat Jack, 18 months old, the second of the Andersons' two sons. The previous night he had received an infusion of antibodies at Children’s.

The sun was going down when the family pulled into the driveway. Sarah reached for the key to her grandmother’s home, but the front door was open. In the doorway, stood her mother and grandma waiting to hug them. Grandma had taken it upon herself to make the turkey, rye rolls, stuffing, potatoes and gravy.

Darrin sat down to the meal feeling a mix of comfort, sorrow and fatigue. Over the last month, he’d slept just three to four hours a night. Most waking hours he spent studying computer spreadsheets in his basement, working feverishly to solve the mystery of one son’s death in order to save the other.

Jack was home in time for Thanksgiving. But they were a smaller family now.  

“That empty chair, I know, weighed on everyone,” Darrin recalled. “I kept saying, ‘Henry should still be here.’ ”

A mysterious and deadly illness 

A month earlier, on the morning of Nov. 2, the Andersons met with the doctor preparing to perform an emergency procedure to help Henry's heart.

Darrin’s eyes fixed on the surgeon’s hands. They appeared to be trembling. The doctor's face, the father recalls, "was amazingly concerned and caring."

Henry was 3½ years old. A quiet, little boy who loved the zoo, he had been rushed by helicopter from a hospital in Oshkosh to Children’s, where machines took over the work of his heart and lungs. In a private waiting room, the doctor explained the situation to the parents.

It would take a miracle for Henry to make it through the procedure, Darrin recalls the doctor saying.

The father drew a deep breath. “That’s what everyone said about us beating Russia in hockey in 1980 and they did it,” he said, invoking the Miracle on Ice from the Lake Placid Olympics.

“You wouldn’t be here to operate on my boy if you weren’t the best surgeon in the Midwest. Go do your job. I’ll work on the miracle part.”

The father says he saw the doctor’s hands settle. He smiled and departed, leaving the Andersons still in shock, struggling to comprehend how they had reached this point. Only a few days earlier, Henry had been trick-or-treating dressed as Yoda. Now he lay near death.

How does that even happen? the father remembers wondering. Darrin, unlike Sarah, is not a person of faith, but he prayed that day. They both did.

Their son survived the procedure. By then, though, the boy was severely brain-damaged. The doctor said that what had happened to Henry was a mystery, but something had overrun the boy's body; they could see for themselves if they opened his eyelids. There was no way in the world the father was going to look at his son’s ruined eyes and have that be the last memory.

Forty-five minutes after the procedure, Henry’s parents made the hardest decision of their lives. They told doctors to turn off the machines keeping their son alive.

“Remember, Mama’s never far away,” Sarah whispered in her child’s ear, using his nickname for the final time. “I love you, Bug.”

“I can’t save you,” Darrin told his son. “I failed.”

The Andersons returned home to Oshkosh in silence. Sarah drove, unable to avoid looking in the rearview mirror at the empty car seat.

They were 20 miles outside of Milwaukee when Darrin, who manages information technology projects, began typing Google searches into his phone. He needed to know what disease does this to a child. He was not going to wait to hear from the doctors.

The parents did not know it then, but their second son’s life would depend on the answer.

Internet changing medicine

Darrin’s internet searches from the van would grow into a compulsion that consumed every spare moment of his life over the next few weeks. His response shows just how much the internet has changed medicine, turning an elite field of study into something a little more democratic.

“More than in the pre-internet era, patients (and their parents) often come in with a detailed understanding about their symptoms and possible diagnoses,” said Phil Fischer, a pediatrician at Mayo Clinic’s complex care clinic in Rochester, Minnesota, in an email interview.

“This can be very helpful to our ongoing evaluation and treatment. I am totally in favor of patients being aware and educated.”

Still, there are sometimes drawbacks.

“Sadly, some patients think that they and ‘Dr. Google’ know what’s wrong more accurately than a real-life physician does,” said Fischer, who was not involved in the Anderson case. “That can lead to patients demanding (and getting) lots of unnecessary tests and treatments — at cost and inconvenience — while being distracted from appropriate care that could lead to better recovery.” 

Fischer said he has run across occasional cases in which a doctor is not as aware of a patient’s medical condition as the patient. That imbalance can undermine the patient’s trust in the doctor.

Handling grief in their own ways

Darrin and Sarah dealt with their grief in different ways.

Darrin struggled with the mystery of Henry’s death, building a database of thousands of rare diseases.

For Sarah, the research felt too much like reliving the pain of losing a son. Instead, she sought strength from her faith and from her family’s history of resilience.

The reactions mirrored their unique personalities and relationships with their son.  

For Sarah, who had once been convinced she would never be able to have a child, Henry had changed everything.

While pregnant, she had accepted a new job at the University of Wisconsin-Oshkosh, expecting to return to work after her 12 weeks of leave. One morning after his birth, she woke realizing that she could not leave Henry. She resigned from her job.

“He was literally my heart beating outside my body,” she said.

As Henry grew into a toddler, she saw that he was like her in many ways: quiet, quick to laugh, bookish. At age 3, he assembled a puzzle of U.S. states in alphabetical order.

After his death, Sarah found comfort picturing Henry safe with Jesus, waiting to see her again when her time arrived.

In her grief, Sarah thought back to all that her maternal great-great-grandmother, Elizabeth Kromm, had endured. Kromm buried a child in the Volga district of Russia, immigrated to Calgary in Canada where she buried a second child, then moved to Oshkosh where she buried a third. Eight others survived.

Sarah realized: I can live through this.

Using an online ancestry website, she further investigated her family history and made an intriguing discovery. Her great-grandmother had suffered the loss of a 6-month-old baby boy.

The boy, whose existence had been unknown to present-day relatives, lies buried near Henry in an unmarked grave. 

From Post-its to a spreadsheet

While Sarah had spent her days with Henry, Darrin had developed a routine with him at night.

He and Henry would make up bedtime stories. Henry loved animals. He visited the Menominee Park Zoo almost every day it was open. Henry would give the animals names.

They became characters in the stories the father and son created: Sam the Snake, Timmy the Goat, Ted the Turtle.

While religion helped his wife cope with their loss, Darrin describes himself as “more of a cause-and-effect science person.”

In the basement, he used medical websites to delve more deeply into the clues he had about Henry’s condition. He worried that what had killed Henry might also threaten his second son, Jack.

Both boys had been sick often since birth. The two had been diagnosed with low iron counts in their blood. Iron helps move oxygen to the lungs and the rest of the body; an untreated shortage can hinder a child’s growth and development. 

Also, both had been born with jaundice, a yellowing of the skin and eyes that is not uncommon among newborns. A baby’s liver may not be sufficiently developed at birth to clear away bilirubin, a yellow pigment produced during the breakdown of red blood cells.

Henry also had experienced rashes and had difficulty with bowel movements. The family learned that he suffered from a partially blocked bowel.

Using these clues, Darrin began searching for rare diseases on Wikipedia and the health site WebMD. He wrote the disease names and descriptions on Post-its and attached them to the wall in front of his computer. Whenever a disease seemed like a closer match to Henry’s, Darrin moved the Post-it to the left.

Soon there were more than 100 Post-its, too many. He moved the information into binders. The binders became unwieldy, too. So he moved the disease descriptions onto a spreadsheet.

Even then, the list grew and grew. He would end up with the names of 6,200 rare diseases. Although some were different names for the same disease, he estimates that the spreadsheet included at least 2,000 different illnesses.

Sarah shared her genealogy work with Darrin and he found a disturbing pattern. In her family, half of the boys seemed to have died of bacterial infections between the ages of 6 months and 6 years. 

A few weeks after Henry’s death, Darrin still lacked one crucial document for his investigation: the pathology report. He had been told the report would not be finished for some time. It is not unusual for such a report to take several weeks, said James Verbsky, an immunologist at Children's and the Medical College of Wisconsin.

Hunger for an explanation

The effort to understand drove Darrin. He slept little, and when he did, Henry’s death haunted his subconscious.

In one vivid dream, he saw two headstones. Beside Henry’s stone in the Lake View Memorial Park cemetery, stood a stone for Jack.

“I was looking at the stones through my own eyes,” Darrin said, “so in the dream, I’d buried my two boys.”   

When he showed friends and relatives the work he’d done in his basement, Darrin felt certain they thought he’d lost his mind.

That’s not what retired nurse Maureen Donovan, a friend of Sarah, thought when she visited the couple. 

“I could see that desperation in Darrin. He kept saying, ‘I have to know. I have to know,’ ” she recalled. “Darrin needed to do this.”

Nichole Stangel, the bereavement coordinator from Children’s who worked with the Andersons, also recognized Darrin’s hunger for an explanation. When a child dies and there are unanswered questions, she said, “It’s not uncommon for parents to try to find that Why?

“In Darrin’s case, the extent he went with his research was something I’ve never seen before.”

Pathology report provides a clue

On Nov. 24, three weeks after Henry’s death, Stangel called Darrin to check on the family. Is there anything I can do to help? she asked.

“As a matter of fact,” Darrin said, “there is.”

He told Stangel he wanted to know what was in the pathology report on Henry, that he worried the same illness might threaten Jack.

Minutes later, the pathologist phoned Darrin and read his report over the phone. As Darrin listened, one term stood out. He asked the pathologist to spell it.

Pseudomonas aeruginosa.

The rod-shaped bacterium, found in soil and water, is a common cause of infection. Rarely, however, do the bacteria overrun a person’s body, as they had with Henry.

Darrin checked the bacterium against the illnesses in his spreadsheet. He found it mentioned as a possible indicator of multiple ailments.

Worried, the Andersons drove down to Children’s that day, bringing Jack. It was two days before Thanksgiving. Darrin shared his research with one of the doctors.

Ultimately, the team treating Jack performed roughly a dozen tests on his blood, and when the family left that day, doctors were still awaiting a key result. A test measuring antibodies, a crucial part of the body's defense against infection, would take another day.

On the day before Thanksgiving, the hospital called the Andersons.

Pack an overnight bag, a hospital official said. The final test found low antibodies.

Jack had a rare, life-threatening immune deficiency, later confirmed as Bruton’s X-linked agammaglobulinemia, also known as XLA. The condition afflicts about one in every 250,000 people and can be treated by infusing patients with antibodies. Jack received his first infusion that day and stayed overnight for observation.

The next day, the family drove home to Oshkosh for Thanksgiving.

Life-saving infusions

Jack continues to receive infusions of antibodies every two weeks. He will need them for the rest of his life.

Doctors say Jack was saved from the same condition that killed his brother: XLA.

“We have no question about it,” Verbsky said.

Although Wisconsin was the first state in the nation to include another immune deficiency called SCID (known informally as bubble boy disease) among the conditions all newborns are screened for, XLA has never been added. Verbsky said there is nowhere in the world where newborns are screened for XLA. He estimated that adding the disease to the screening would probably cost an extra $2 to $4 per baby, but in his view would be worth the price.

At age 11, Jack is a chatty, precocious child. Although he was developmentally delayed early in life, he now excels in school. During an interview, he casually used the terms “off-the-record” and “aforementioned.”

He likes Mario Bros. and Minecraft video games and writes code for his own games. He reads Batman comics. He also writes his own stories, one of which has grown to 11 chapters.

He likes swimming. His favorite foods are cheeseburgers, pizza “and the occasional chicken tender, because … why not?”

“That potential,” Darrin said, listening to his son. “Who knows where it goes in 40 years. But it wouldn’t be there if the doctors hadn’t saved him.”

The Andersons' firstborn is never far from their thoughts. Several times a month Jack and his mother visit Henry's grave.

Darrin says he will go when XLA has been cured or added to newborn screening.