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He was lying on a hospital bed at the University of Arkansas, suffering from a rare disease. His platelet count was so low that even a slight bump on his body could cause fatal brain bleeding. A doctor told him to write his living will on a piece of paper.
Fajgenbaum was transported to the scanner. Tears ran down her face and fell on her hospital gown. He thought of the first patient who died under his care at the medical school and the fact that his brain had bled in the same way as a result of a stroke.
He did not believe that he would live the scan.
But he did it. It turns out that his headache was not bleeding to the brain – just a sinus pressure. Chemo came into play.
Fajgenbaum fought against Castleman's disease, a rare autoimmune disease involving cell proliferation in the body's lymph nodes. It was not the first time that a relapse threatened his life. Massive chemotherapy regimens of "shock and fear" had helped him to escape death from death in four previous attacks, but each new attack on his body had weakened him.
"You learn a lot by almost dying," he says.
He has learned enough to surprise his doctors by offering 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 medical career saving other patients like him.
Fajgenbaum, 34, recounts his impending death and remarkable recovery in a new book titled "Chasing My Cure: A Doctor's Run to Turn Hope Into Action".
His story draws lessons for the future of research on rare diseases – and for life.
His first love was football
As a boy in Raleigh, North Carolina, Fajgenbaum spent Saturdays on the sidelines watching the NC State Wolfpack with his father, the team's doctor.
At the age of 7, he was obsessed with becoming a Division 1 athlete. In high school, he got up at 5 am to go running. The walls of his room were covered with pictures of football games.
He made his dream come true by making the Georgetown University football team a quarterback. But in her second year in 2004, her mother died of cancer.
His obsessive focus is deepened, helping him to learn to appreciate the precious moments of life and to understand that bad things can still happen to the right people.
"I know people much more worthy of miracles than me who did not have them," he says.
Fajgenbaum then obtained a master's degree from the University of Oxford, where he learned to conduct scientific research in order to be able to fight the illness that took away his mother.
This relentless concentration and scientific rigor would save his life one day.
In the medical school, a rare disease almost killed him
Fajgenbaum entered the faculty of medicine at the University of Pennsylvania to become a physician like his father, including an oncologist, in tribute to his late mother.
During his third year in 2010, he became very ill and was hospitalized for five months. Something was attacking his liver, kidneys and other organs and closing them.
The diagnosis was an idiopathic multicenter Castleman disease.
The disease causes an overdrive of some immune signaling molecules, called cytokines. It's like they called fighter jets for over-attacks on their home territory.
Fajgenbaum's doctors knew that his body was in civil war, but they wondered how and why.
In his hospital bed, Fajgenbaum felt nauseated and weak. His organs were failing and he noticed curious red spots on his skin. But his doctors, anxious to save his life, were not interested in these "blood moles".
He asked every new doctor in his room what the blood mole meant.
"They went out of their way to say that they did not matter," says Fajgbenbuam. But the medical student turned patient would continue to prove that he was ready to do something.
"Patients listen to things that nobody sees," he says.
He suffered relapses putting his life in danger
Castleman's disease hit Fajgenbaum four more times over the next three years, with hospitalizations ranged from a few weeks to several months.
But even with a great specialist Castleman treating him, there were a lot of unknowns. Fajgenbaum survived only through intensive "carpet bombardment" campaigns with chemotherapy.
While he repeatedly faced death, he regretted the most memories that he had not yet created: to be a medical graduate, to marry his university darling and to look into the eyes of his son or daughter.
During a relapse in a hospital at Duke University, his family brought a priest to read his last rites.
After all the setbacks, all organ failures, all the chemo, Fajgenbaum was worried that his body would simply break.
Despite four hospitalizations, he managed to obtain his medical degree. His life depended on it.
He needed to change the way medical research is done
Rather than starting a residency like most of his medical school fellows, Fajgenbaum started an MBA at Penn's Wharton School in 2013.
The coordination of data sharing efforts between labs has forced us to use "every course of negotiation, strategic decision-making and management economics that I've attended at school of commerce, "he writes in his book.
Through the CSCN, he started bringing together the world's best researchers on Castleman's disease for meetings in the same room. His group worked with doctors and researchers, as well as patients, to prioritize the studies to be carried out as soon as possible.
Rather than asking people for grants, they hand-pick the best researchers to investigate Castleman.
Fajgenbaum also gave priority to clinical trials of reused drugs that the FDA had already approved as safe rather than starting from scratch with new compounds.
In the meantime, he never knew if the next relapse could finally kill him. Stopping them meant flying to North Carolina every three weeks receive chemotherapy treatments.
Nevertheless, he proposed to his dear student, Caitlin Prazenica, to give him a "letter from his niece" to his "Aunt Caitlin", in which it was said in particular: "I am a very good girl with flowers."
"Illness has not been an obstacle for me," says his wife now. "I just wanted to be together."
But at the end of 2013, Castleman hit again, the depositor in this hospital in Arkansas. This marked his closest crash with death.
He developed a new treatment
Before he and Prazenica could send their postcards to a memorable date, Fajgenbaum set out to save his life.
After reviewing his medical records, he came up with an idea that – more than 60 years after the discovery of Castleman's disease – had not yet been explored.
A protein called vascular endothelial growth factor, or VEGF, reached 10 times its normal level. At the faculty of medicine, he had learned that VEGF controlled the growth of blood vessels and hypothesized that the blood moles that appeared in each Castleman relapse were a direct result of this protein outbreak, which prompted the system. immune to acting.
He also knew that there was an immunosuppressant called Sirolimus that had been approved by the FDA to help fight the immune system when it activated against kidney transplants.
After consulting an expert from the National Institutes of Health, Fajgenbaum asked his doctor to prescribe the drug. He picked it up in February 2014 at a pharmacy located less than two kilometers from his home.
"A drug that could save my life was hidden from view," he says.
Until now, it works. Fajgenbaum has been in remission of Castleman for more than five years. He's not the muscular footballer he once was, but he's almost full.
After three months in Sirolimus, Caitlin and he married in a Philadelphia ballroom, their joy amplified by the memory of their difficulties.
Fajgenbaum is now an assistant professor of medicine at the University of Pennsylvania. He is leading a research laboratory and is recruiting patients for a clinical trial for the drug that has given him life.
He finished sketching his book in August 2018, just in time for the birth of their daughter, Amelia.
"She is such a small miracle," says Caitlin Fajgenbaum. "We are so lucky to have it."
His approach to research can be applied to all rare diseases
Fajgenbaum says he and the others have a great opportunity to change that.
"Because so little time and money has been invested in these diseases, there are plenty of fruits at hand," he says.
"I did not see anyone attacking an illness with this level of organization," she says. "He did not wait for the stars to line up – he aligned them himself."
Research on many rare diseases suffers because there is no disease-level action plan or "quarterback" to direct it, says Simoncelli.
For the past 10 months, the Fajgenbaum group and CZI have been working together to help rare disease communities bring together patients, researchers and doctors to ensure that the right research is done as quickly as possible.
"Part of his talent lies in the fact that his model can be turned into a series of stages," says Simoncelli.
Fajgenbaum hopes his story will offer, far beyond medicine, lessons on what people can do when they are leaning against a wall.
And he feels that his suffering makes sense 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 underwent 14 hospitalizations.
Then his doctor prescribed Fajgenbaum's medicine after the family contacted the CSCN. Katie has not been hospitalized since and has just graduated from kindergarten. She even learned to ride a bike.
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