This student was given last rituals before finding a treatment that saved his life. His method could help millions
He was lying in a hospital bed at the University of Arkansas, afflicted with a rare disease. The number of platelets was so low that even a slight shock to his body could trigger a fatal brain hemorrhage. A doctor asked him to write his will on a piece of paper.
Fajgenbaum was rushed to a CT scan. Tears streamed down his face and fell on his hospital gown. He thought of the first patient who died during his medical school care, and how her brain had bled in a similar manner from a stroke.
He did not think he would live the scan.
But he did. It turns out that the headache wasn't a brain haemorrhage – just sinus pressure. The chemo had kicked in.
Fajgenbaum fought against Castleman's disease, a rare autoimmune disorder that involves the overgrowth of cells in the body's lymph nodes. It was not the first time a relapse had threatened his life. Massive "shock and awe" chemotherapy regimens had helped him escape death during four previous attacks, but each new attack on his body weakened him.
"You learn a lot by almost dying," he says.
He learned enough to surprise his doctors by coming up with a way to treat his illness. Almost six years later, he is in remission, he and his wife have a baby girl, and he spends his playing career saving other patients like him.
His story has lessons for the future of research about rare disease ̵[ads1]1; and to live.
His first love was football
As a boy in Raleigh, North Carolina, Fajgenbaum spent Saturdays on the sidelines watching NC State Wolfpack with his dad, the team's doctor.
At the age of 7, he became obsessed with becoming an athlete in Division 1. At junior high school he woke up at 17 to run. The walls of his bedroom were covered with football cards.
He achieved his dream and made Georgetown University football team as a quarterback. But during the second year of 2004, her mother died of cancer.
His compulsive thoughts improved, helping him to appreciate the precious moments of life and to understand bad things can still happen to good people.
"I know people far more worthy miracles than I am who have not received them," he says.
Fajgenbaum then received a master's degree from Oxford University, where he learned to conduct scientific research so that he could fight the disease that his mother took.
The relentless focus and scientific rigor would one day save lives.
At medical school, a rare disease almost killed
Fajgenbaum entered medical school at the University of Pennsylvania to become a doctor as his father – especially an oncologist, as a tribute to his late mother.
During his third year, in 2010, he became very ill and was hospitalized for five months. Some attacked the liver, kidneys and other organs and knocked them off.
The diagnosis was idiopathic multicentric Castleman's disease.
The disease causes certain immune signaling molecules, called cytokines, to go into overdrive. It is as if they call fighter jets for assault on home territory.
Fajgenbaum's doctors knew his body was in a civil war, but they had questions about how and why.
[19659010] In his hospital bed, Fajgenbaum felt nauseous and weak. His organs failed, and he noticed curious red spots on his skin. But his doctors, who focused on saving his life, were not interested in these "blood mills."
He asked every new doctor who came to his room what the blood mills meant.
"They went out to say they didn't do anything," says Fajgbenbuam. But the fellow student-facing patient would continue to prove that he was onto something.
"Patients record things no one else sees," he says.
He suffered a life-threatening relapse
Castleman's disease struck Fajgenbaum four times over the next three years, with hospitalizations lasting from weeks to months.
But even with a top Castleman specialist who treated him, there were many unknowns. Fajgenbaum came alive only through intense cell poison bombing campaigns.
When he repeatedly faced death, he made the most of the memories he still hadn't made: graduating from medical school, marrying his college, and looking into his son or daughter's eyes.
[19659010] During one relapse at a Duke University hospital, the family called a priest to read him the latest rituals.
After all the setbacks, all the organ failure, all the chemo, Fajgenbaum worried that his body would simply break. [19659003] Despite four hospital admissions, he managed to graduate from medical school. His life depended on it.
He needed to change how medical research is done
Instead of starting a residency like most of his medical school classes, Fajgenbaum began an MBA at Penn & # 39; s Wharton School in 2013.
Coordinating data sharing efforts between laboratories required him to use "every negotiation, strategic decision-making and management economics course I took at the business school," he wrote in his book.
Through CDCN, he began bringing together the world's best scientists from Castleman's disease for meetings in the same room. His group worked with doctors and researchers as well as patients to prioritize the studies that needed to be done the fastest.
Instead of getting people to apply for grants, they hand out the best researchers to Investigate Castleman.
Fajgenbaum also prioritized clinical trials that re-marketed drugs the FDA had already approved as safe rather than starting from the bottom of new compounds.
Meanwhile, we he never said if the next relapse could finally kill him. Putting them off meant flying to North Carolina every three weeks to receive chemotherapy.
Still, he suggested to his college boyfriend, Caitlin Prazenica, and gave her a letter written from her niece to her "Aunt Caitlin," which said in part, "I am a really good flower girl."
"The disease was not hinder me, "says his now-wife. "I just wanted to be together."
But in late 2013, Castleman struck again and landed him at that Arkansas hospital. It marked his nearest brush with death yet.
He was a pioneer in a completely new treatment
Before he and Prazenica could send out their stored postcards, Fajgenbaum tried to save his own life.
After examining his medical charts, he zeroed in on an idea that – more than 60 years after Castleman's disease was discovered – scientists had not yet investigated.
A protein called vascular endothelial growth factor, or VEGF, spiked 10 times its normal level. At medical school, he had learned that VEGF controls blood vessel growth, and he assumed that the blood moles that had appeared with each relapse from Castleman were a direct result of the protein peak, which signals the immune system to seize.
He also knew that there was an immunosuppressant called Sirolimus that was approved by the FDA to help fight the immune system when activated against kidney transplants.
After consulting a National Institutes of Health expert, Fajgenbaum asked his doctor to prescribe the medicine. He picked it up in February 2014 at a pharmacy less than a mile away from home.
"A substance that could potentially save my life hidden in sight," he says.
So far it works. Fajgenbaum has been in remission from Castleman for more than five years. He is not the muscular footballer he once was, but he is near full strength.
After three months at Sirolimus, he and Caitlin were married in a Philadelphia ballroom, and their joy was enhanced by memories of their struggles.
Fajgenbaum is now an assistant medical professor at the University of Pennsylvania, who runs a research laboratory and enrolls patients in a clinical trial for the drug that has given him his life.
He completed the draft of his book in August 2018, in time for the birth of their daughter, Amelia.
"She's such a miracle," says Caitlin Fajgenbaum. "We're so lucky to have her."
His approach to research can be applied to all rare diseases
Fajgenbaum says there is a huge opportunity for him and others to change it.
"Because so little time and money has been invested in these diseases, there is a lot of hanging fruit," he says.
"I haven't seen anyone tackle an illness with that organizational level," she says. "He didn't wait for the stars to align. He adjusted them himself."
Research for many rare diseases suffers because there is not a disease-wide plan and a "quarterback" to guide it, says Simoncelli.
So for the past ten months, Fajgenbaum's group and CZI have been working together to help rare diseases gather patients, researchers and doctors to get the right research done as quickly as possible.
"Part of his brilliance is that his model can be transformed into a series of steps," says Simoncelli.
Fajgenbaum hopes his story offers lessons, far beyond medicine, on what people can do when supported against a wall.
And he feels that the disorder matters when he looks into the eyes of his patients with Castleman's disease. A girl named Katie was diagnosed at the age of 2 and received 14 hospital admissions.
Then her doctor prescribed Fajgenbaum's medication after the family reached out to CDCN. Katie has not been hospitalized since and only graduated from kindergarten. She has even learned how to ride a bike.
