A Soviet olympic gymnast who suffered a bad accident during training while injury. Multiple points of failure - not given time to recover from injury, her trainers not listening to her concerns, lack of safeguarding for her in terms of an advocate for her health and wellbeing (you can not expect the person themselves to be an advocate for themselves, they generally can not), precedence of the perceived success of the organisation over the safety of the individual.
These themes are general and present in different countries and different fields.
Elena Mukhina on her training accident leading to paralysis
“It happened very simply. Everything had led up to it. I
wasn’t physically or emotionally ready. My injury could have been expected. It
was an accident that could have been anticipated. It was inevitable.
I had said more than once that I would break my neck doing
that element. I had hurt myself badly several times, but he just replied that
people like me do not break their necks. And again, it’s not that you can’t,
but that you don’t want to. You are not conscientious, you are lazy.
Mikhail Klimenko (couch) treated me like a living robot. Apart from the
gym and gymnastics, nothing existed. I
didn’t have the right to be ill. Problems outside sports simply did not exist. He
didn’t understand that I might be tired. He would say ‘you are not tired, you
just don’t want to do it’, that was his method of training.”
Ogonyok magazine Conducted by Oksana Polonskaya Translated by Beth Squires
Behind me is an enormous gym bathed in white light, as in an operating room. Thousands of people are in the stands. Everyone is looking at the platform, where a little girl with tousled bangs is soaring through the air. The deathly white light of the floodlights produces practically no shadows. Yet what is happening behind me is shadows. Black and white images of people who have long gone their separate ways to great and small destinies. Behind me is a reinforced concrete wall, on the wall is pink flowered wallpaper, and on the wallpaper is a large photograph of an enormous gym, thousands of people in the stands, and a girl with tousled bangs is flying, flying, and it seems that she will never be able to land. She sits in front of me in a wheelchair, her hands resting on its arms, her hair neatly combed, and she is even slightly made up. She is Elena Mukhina.
Petrovsko-Razumovsky Way. A labyrinth of old Moscow courtyards... And in the very heart of this labyrinth of countless buildings, addresses written as fractions on the walls, puddles, fences, and curves there is an apartment building. A castle, a fortress, where in a two-room apartment a fate is imprisoned, a fate which many would like to forget and not bring up again, having stricken it from the official history of Soviet sports as if nothing ever happened. The leaders of the industry that produces champions have hidden from people not only the tragedy of a young girl, but much more - the conscience and shame of our sports, supposedly "the most humane in the world."
...In the entire eight years that have passed since the fateful injury suffered by Mukhina at the training camp in Minsk only two weeks before the start of the Moscow Olympics, the newspaper "Sovetsky Sport" has mentioned her twice - the first time in a brief report that Elena Mukhina had suffered an injury and in all probability would not be able to participate in the Olympic competitions, and the second time when the president of the International Olympic Committee, Juan Antonio Samaranch, awarded her an Olympic Order in 1982.
There are things that cannot be learned quickly. Sometimes it takes a whole lifetime to grasp simple and clear truths. The eight years that have passed since that tragic day that split Lena's life into past and present, memories and immobility, youth and maturity are enough time to draw a lesson from what happened. And today it is finally time to talk about the inhumanity of top-level competitive sports. This is not a pleasant topic. For long years we have tried to sidestep it or, as a last resort, the officials in charge of top-level sports have offhandedly uttered some edifying words, thinking to themselves that there was no need to delve deeply into it.
... Lena's grandmother, Anna Ivanovna, the girl's only and most solid support in life, opened the door to me. On top of all the misfortunes that have fallen upon her, Lena is an orphan. When she was five years old there was a fire in the building and her mother burned to death. Lena wasn't home at the time, but by the time she came back everything had already been cleaned up and all traces of the recent disaster had practically been eradicated. Only her mother was never there anymore.
Lena was sitting in her wheelchair. "Come in." Her voice was quiet, so you had to listen attentively. It was femininely pleasant and soft.
She had refused for a long time before agreeing to our meeting. She agreed only when we had established that the article wouldn't be about her, but about sports.
"I was waiting for the fame to pass. I didn't need it anymore. Letters? Yes, people wrote letters. But they were stupid for the most part. They kept asking when I would return to competition. And I wanted only one thing: to be left alone. Of course, those people weren't to blame for the fact that they were being deceived - after all, it was obvious right away that I would never return to a normal life, let alone to sports. Yes, they were being deceived. The fans had been trained to believe in athletes' heroism - athletes with fractures return to the soccer field and those with concussions return to the ice rink. Why? For what purpose? In order to report that 'the task of the Homeland has been completed'?"
For what purpose?
"Two things are necessary in order for a country to become fascinated with bullfighting," Hemingway wrote. "First, the bulls have to be bred in that country, and second, its people have to be interested in death."
Any comparison or parallel is relative, as everyone knows. But still, these words from the book Death in the Afternoon disturbed me and led my thoughts around in circles. Are the bulls athletes? Is sport a bullfight? Death? What nonsense! Bred in that country...
But then in the impassable thicket of logical intricacies, the parallel I was seeking crackled like a dry twig in my hands. "The prestige of the nation is a flight to the moon and an Olympic medal," said another American, US President John F. Kennedy. Aptly said. And for our country, athletic successes and victories have always meant somewhat more than even simply the prestige of the nation. They embodied (and embody) the correctness of the political path we have chosen, the advantages of the system, and they are becoming a symbol of superiority. Hence the demand for victory - at any price. As for risk, well... We've always placed a high value on risk, and a human life was worth little in comparison with the prestige of the nation; we've been taught to believe this since childhood.
"It happened on July 3, at a workout at the Minsk Palace of Sport. My coach Mikhail Klimenko had gone away for a few days and I was left with the coaches of the national team - virtually with no one. But that's not the point. The injury was still inevitable. Not necessarily that it had to happen on that day. I think they'd even have carried me off the competition floor. Because I just wasn't able to do that element. What good is it to tumble into a foam pit two times, without really understanding anything and without any coordination, and then immediately go up onto the platform? Especially since I had broken my take-off leg at a competition in 1979 and was doing the somersault badly. But the race was on - the Olympics were coming up. The doctors? What about the doctors... They aren't there to serve health, but to serve sports. I asked, 'Don't discharge me from TsITO [Central Institute of Traumatology and Orthopedics], they're dragging me from home to workouts.' They removed the cast and I was walking crookedly. They took an X-ray and it turned out that the bones had separated. I was on the operating table right after lunch. My coach came the next day and said that I wasn't conscientious and that I could train in a cast...
"I was stupid. I really wanted to justify the trust put in me and be a heroine. While I was in the cast I gained weight. I had to get rid of it. Everything was rushed again. I would come to TsSKA [Central Army Sports Club] two hours early and rush around the gym like a crazy person. The workout would just be beginning and I didn't have a drop of strength left. I was so tired then, both physically and psychologically."
When Lena fell for the last time her first thought was "Thank God, I won't be going to the Olympics."
She fell on her chin, bending like a ruler that had been pressed onto the table at one end and forcefully pulled upward at the other. The ruler broke right at the base. Her cervical vertebrae crunched. Lena felt no pain.
The pain came later, at the hospital, when the doctors kept conferring and deliberating, while the time during which it was still possible to at least attempt to restore or fix something, at least to try, slipped by in long, thick moments, minutes, hours, and days, flowing away like hot porridge. She very much wanted to die. But they wouldn't let her.
"Who pushed you?" the doctor asked at the hospital.
From the newspapers: "Lena Mukhina was crying. The pain was squeezing out the tears. Lena had struck the beam with such force that everything went dark before her eyes. It was very painful to stand on her leg. But she still had one last event - the floor exercises. She made a decision and ordered herself, 'You must work! You must give your all!' And she went out on the mat... Klimenko was terribly pleased: 'I see her as a real fighter. She has character, that she does!'"
"...Mikhail Klimenko came to women's gymnastics from men's and has firmly mastered techniques that are more complex than the women's. He is a believer in reason and logic. The way to achieve boldness is through mental conviction, through the brain to the muscles..."
"... Do you know when I get really scared? When I watch my bars routine on television..."
If humanity is divided into children and grownups, and life into childhood and maturity, then there are very many children and a whole lot of childhood in life. Only we, immersed in our own struggle and our own concerns, don't notice them... We have arranged things in such a way as to have children interfere with us as little as possible and to guess what we really are as rarely as possible. These words were said a long time ago by a pedagogue who won universal recognition. But the point is that these words have not yet lost their relevance. On the contrary, when applied to sports, they have acquired an ominous and ugly nuance. I'll permit myself to offer the following allegory: a healthy and cheerful person (nowadays it is a child with increasing frequency) gets into the brightly painted, classy, and attractive car of top-level competitive sports. The car whirls him around in circles and at first it seems enjoyable, like a fun amusement park ride, but the speed gets ever faster, the centrifugal force ever stronger, and the pressure ever greater. Then, when the car finally stops, it discharges an invalid, crippled both physically and psychologically. Physically because you can't write off the numerous dislocations, fractures, and concussions. Psychologically because after having gotten used to living amid universal attention and esteem, the person is not able to adjust to living at a lower level and so after retiring he feels totally unneeded.
"If only we started sports at age 16-18, when a person can consciously choose his path, but at age 9 or 10 we don't see anything around us except sports, in which our interest is so skillfully kindled. It seems to us that it's some kind of special world. We don't yet know how narrow that three-dimensional existence of the gym, home, and competitions is. And even though athletes get to travel and see so much, they are terribly deprived spiritually. Work, work, work. Nothing exists except work and pressure, which constantly increase, and sometimes it seems that that's it, you haven't got any more strength. But my coach once told me, 'Until you break, no one will let you go.'
"I got so used to conquering myself - I don't want to, I'm scared, musn't eat, musn't drink - that in the first years after the injury, when all I could do was lie around, it seemed weird that nothing was required of me. I so needed those feelings of having some sort of control that I began to starve myself for no reason at all. To torture myself. Out of habit..."
I often remember an episode from the life of our renowned Olympic figure skating champion Irina Rodnina. Remember when she fell out of a lift during training and hit her head on the ice and was taken to the hospital with a serious concussion, and then a few days later she competed anyway and won, our courageous little woman Rodnina. Quite a few newspaper articles were written then lauding her courage, television films were made, and even books were written. But I ask myself again and again, for what purpose was it necessary to make her go out on the ice in a semi-conscious condition? If she did it of her own free will, then who hypnotized her with the idea that "Moscow is behind us," "there's no room to retreat"? After all, it wasn't a war! Sport is a noble endeavor!
"There are such concepts as the honor of the club, the honor of the team, the honor of the national squad, the honor of the flag. They are words behind which the person isn't perceived. I'm not condemning anyone or blaming anyone for what happened to me. Not Klimenko or especially the national team coach at that time, Shaniyazov. I feel sorry for Klimenko - he's a victim of the system, a member of the clan of grownups who are 'doing their job.' Shaniyazov I simply don't respect. And the others? I was injured because everyone around me was observing neutrality and keeping silent. After all, they saw that I wasn't ready to perform that element. But they kept quiet. Nobody stopped a person who, forgetting everything, was tearing forward - go, go, go!"
One cannot say that the current changes under way in our life have not affected sports, for instance, artistic gymnastics. For example, its officials have decided that from now on it will be more pleasing to the eye and more womanly. In other words, on the platform we won't see little girls with the bodies of kindergarteners, but... This was stated most assuredly by the head of the gymnastics administration of the USSR State Sports Committee, Leonid Arkaev, at a press conference dedicated to the opening of the latest Moscow News competition. With pride he mentioned the names of female gymnasts whom we have seen performing for several years now, but who, no offense meant to them, despite their age still bear little resemblance to women. At the same press conference he went on to say that in contemporary artistic gymnastics today there is not a single athlete performing at the world level who has not been injured. True, he added that this was not for the press (what a concept: not for the press at a press conference!) We nodded our heads obediently. But I still allowed myself to cite this revelation because, first of all, that's the nature of the times, and second, because I'm sure that it won't reflect on Arkaev's career in any way. Who is interested in injuries when our school of gymnastics is in the vanguard of world sports? There's no stopping a steamroller, as they say.
The picky reader may object that in the West and abroad, athletes are subjected to the same conditions, they also have to take risks and sacrifice their health. Yes, I am forced to agree. But there is a small "but." Over there the athletes do it for the sake of incredible amounts of money, for a secure future for themselves and their families. Here we have been duping people for so long with the false notion that our sports are of an amateur nature that it was totally incomprehensible - why do they do it? So that the State Sports Committee functionaries could give proud reports...
I certainly do not mean to blame sports - a beautiful and noble invention of mankind - for all sins. Moreover, one of the main achievements of the new socioeconomic system was sports, sports of a mass nature, accessible to one and all. But gradually, like, incidentally, many other areas of our life, sports have moved from the everyday sphere to May Day parade grounds and the frames of cheery, uplifting movies. A false mass nature has been established. Inflated figures for the number of recreational athletes, a dead national fitness program which people are trying in vain to revive, run-down stadiums, a lack of any kind of athletic wear. And against this background are the brilliant victories, raised flags, and tears in the eyes of the victors.
"To the mentors who have preserved our youth..." Sports are the domain of the young. But behind them are fully grown people playing fully grown-up games. They have to change their attitude toward sports. Or they have to be changed, i.e., replaced. For the fate of Elena Mukhina is only the tip of an enormous iceberg of crippled fates. Let's think about this.
'The language of illness and disease is foreign to many,
and for the many who speak it, our tongues often knot
around each letter of the day and, if not knotted,
perhaps try too hard to give sound to the syllables
which have brought us to this far and foreign place,
where visitors sometimes stand and wave shores away.
And those visitors who dare with love and or fear
to venture closer to our island of frail and uncertain
human bodies, dare to touch our now unknown skin, still
with theirs. We have all traveled such a long way to
get here.'
Dr. David Fajgenbaum, who has Castleman disease, with his wife, Caitlin, at home in Philadelphia.CreditNicole Bengiveno/The New York Times
They called him the Beast.
David Fajgenbaum was the fittest of his friends at the University of Pennsylvania’s medical school, a 6-foot-3 gym addict and former quarterback at Georgetown. His mammoth hands seemed more suited to spiraling footballs than the fine fingerwork a doctor-in-training might need. He had endurance to match, taking multiple hits and returning to the field to play on.
“This guy was a physical specimen,” said his former roommate, Grant Mitchell, who used to walk to work with him. When they would arrive at the hospital for his obstetrics rotation, his friend recalled, “he would basically coerce me into doing pull-ups on the tree outside.”
In July 2010, that all changed. The 25-year-old woke up at night drenched in sweat. His lymph nodes were swollen. He felt stabs of abdominal pain, and odd red bumps began sprouting across his chest. Most bizarre of all, he felt very tired — so tired that he began slipping into empty exam rooms between patients, stealing five-minute naps to get through the day.
“Guys, I think I’m dying,” he recalled telling his friends.
A visit to the emergency room confirmed his fears. A doctor told him that his liver, kidneys and bone marrow were not working properly. Even more troubling, the doctor had no idea why his body was failing. “What do you think is going on?” he remembers the doctor asking him.
Pursuing the answer to that question, it turned out, would become his life’s work. It would transform Dr. Fajgenbaum from a patient on the brink of death five different times, whose illness stumped specialist after specialist, to one of the leading researchers in his field. He has even used himself as his own test subject, and may have discovered a treatment for his rare disease.
His story, which has been circulating inside medicine, is more than one person’s remarkable journey, however. It offers a look into the world of rare diseases, a corner of medicine that continues to frustrate — and flummox — those who seek cures for obscure conditions. About 95 percent of all rare diseases have no approved drug treatments.
Fewer than 8,000 people in the United States are found to have Dr. Fajgenbaum’s condition in any given year. But taken as a whole, rare diseases are not unusual: An estimated 30 million people in the country — or about 10 percent of the population — are living with one of the nearly 7,000 rare diseases that have been identified.
Prompted by financial incentives passed by Congress, the drug industry is hotly pursuing treatments for a throng of rare diseases. That has led to breakthroughs in several conditions, including cystic fibrosis and spinal muscular atrophy. Nevertheless, with a small number of subjects to study and relatively few people to sell new drugs to, many rare diseases are overlooked by doctors and scientists, hampered by a lack of resources and public awareness.
Dr. Fajgenbaum’s condition is one of the many that have been given relatively little attention. Initially, doctors thought he had a common form of cancer. A CT scan — a series of images that give doctors a clearer picture of what is going on inside the body — revealed a body riddled with enlarged lymph nodes, a hallmark of lymphoma. The news struck a particularly cruel blow: Only a few years earlier, while Dr. Fajgenbaum was in college, his mother died of brain cancer.
He declined rapidly as his immune system went haywire. A retinal hemorrhage, a type of ministroke, temporarily blinded his left eye. Fluids leaked out of his blood vessels, a sign that his liver was failing. Over the next two weeks, he gained about 70 pounds of extra fluid and his brain fogged over.
For those who knew him as the Beast, the transformation was jarring.
“Even when he got sicker and sicker and eventually went into the hospital, it was kind of like this, oh, weird, Dave must have some really awful virus — that’s one hell of a flu,” his friend Dr. Mitchell said.
Gary Gravina, who also has Castleman disease and suffered a relapse last August, being helped into bed by his wife, Stacey, as Dr. Fajgenbaum watched.CreditJessica kourkounis for The New York Times
When Dr. Fajgenbaum’s brain started slowing down, Dr. Mitchell said, the severity of the illness sunk in. “I would ask him a simple question, and he would answer in a couple words, like 30 seconds to a minute later,” he said.
Dr. Mitchell and the other medical students scoured textbooks and the internet, searching for clues. The top medical experts at Penn, meanwhile, were not having much more luck. Lymphoma was just one theory. Others thought it might be a severe case of lupus or even mononucleosis. But test after test was inconclusive.
Finally, the doctors tried a huge dose of steroids. Slowly, his body began to fight its way back. His kidneys and liver began functioning again, and the extra fluid receded. Seven weeks after he was admitted, Dr. Fajgenbaum walked out of the hospital. It was September 2010.
“I remember asking the doctor, saying, ‘What was this?’” he said. “And I remember the doctor saying, ‘We don’t know what it was, but let’s just hope it doesn’t come back.’”
It took only one month for symptoms to come rushing back, while he was convalescing at his childhood home in Raleigh, N.C. Doctors there shipped a piece of his lymph node to the Mayo Clinic in Minnesota, where pathologists finally pinpointed his disease. The condition, called Castleman disease, was so rare that doctors at the hospital in Raleigh had no experience with it.
Castleman disease had been known since the 1950s but has remained largely a mystery. A hallmark of the condition is enlarged lymph nodes, and most people with the disease — about two-thirds — have a form that affects just one part of the body and can usually be cured through surgery.
The form ravaging Dr. Fajgenbaum’s body — multicentric Castleman disease — is even more rare and deadly. Only about 1,200 to 1,500 people are discovered to have it every year in the United States. It defied classification, occupying a no man’s land between cancer and immune disease. Doctors weren’t sure of the cause in patients like him: Some believed it was a type of cancer, while others thought it was an inherited genetic disorder, or was triggered by a virus.
One thing was clear: The disease was deadly. Only about 65 percent of people with the condition live for five years after it is diagnosed, studies have shown.
Over the next few years, Dr. Fajgenbaum alternated between extended periods of relative health and frightening relapses. His condition stumped even leading experts in the disease, people like Dr. Frits van Rhee of Little Rock, Ark., who has treated the largest number of patients — about 100 — with Castleman.
The tools that Dr. van Rhee and others had were blunt and harmful in their own right. More than once, Dr. Fajgenbaum underwent a devastating, 21-day course of chemotherapy that annihilated his immune system in an effort to knock his disease into remission.
Dr. Fajgenbaum was also granted emergency access to siltuximab, a drug that Johnson & Johnson was developing for people with his form of multicentric Castleman disease, which would be approved in 2014. That year, in 2011, Dr. van Rhee secured a rare exception to try it on Dr. Fajgenbaum.
Photo
Far left, David Fajgenbaum in 2004, in a football drill at Georgetown University, and how he looked in February 2011, two weeks after his third flare-up of the disease.
But the drug, like other previous treatments, did not work.
Dr. Fajgenbaum was undaunted. With the zeal he once devoted to bench-pressing a personal best — 375 pounds, reached six months before he first fell ill — he dove into the scientific research on Castleman disease and began to familiarize himself with the world’s top experts.
On Sundays, his roommate tried to coax Dr. Fajgenbaum out of his bedroom, with its white board covered in notes, organizational plans tacked to the wall. He rarely succeeded. “I’m on the couch watching TV, and Dave is just cranking away on Castleman,” Dr. Mitchell recalled.
The more Dr. Fajgenbaum learned, he said, the more he realized how much the field that studied Castleman was in disarray. Researchers focusing on the disease used different terminology to describe the condition, making it difficult to compare published work. Leading experts weren’t in regular communication, and studies were being done over again, even though previous ones had failed.
“It became just abundantly clear that just because you have smart people thinking about a problem doesn’t mean that it’s coordinated at all,” he said.
One of the people he called was Dr. Thomas Uldrick, a clinical researcher at the National Cancer Institute who had studied multicentric Castleman disease. The two struck up a correspondence. “Clearly he was a very bright medical student, and he was scared of dying from this disease,” Dr. Uldrick recalled.
He also began collaborating with Dr. van Rhee, who knew that Dr. Fajgenbaum was a different kind of patient after he arrived armed with charts, graphs, timelines and slide presentations. “There are patients who keep meticulous records,” Dr. van Rhee said with a chuckle, “but he was definitely in the top 1 percent.”
In spring 2013 Dr. Fajgenbaum earned his medical degree, and a few months later he entered the Wharton School at Penn, reasoning that, to solve the tangled mystery of Castleman disease, business smarts would serve him well.
But in December of that year he got sick again, with his blood platelets dropping so low that he barely avoided a fatal brain bleed.
This time, though, he was able to use his relapse to further his search for a cure.
For months, Dr. Fajgenbaum had been collecting weekly blood samples that served as snapshots of his immune system, tabulating the results in a spreadsheet and adding them to a detailed slide presentation that he had been preparing since he received the diagnosis. And when it was clear the disease had returned, he persuaded his doctors to remove a piece of a lymph node, test it and save it for future research.
After a round of chemotherapy, he improved enough to be discharged and started looking into what secrets the tests might reveal. It turned out that five months before he started noticing symptoms in December, his T cells — one of the key weapons in the body’s immune arsenal — had starting activating, preparing for a fight even though there was no apparent threat. Then, about three months before his relapse, he noticed that he had started producing more VEGF, a protein that instructs the body to make more blood vessels, and is another sign of an immune system gearing up.
These two hints gave him an idea: Maybe the problem was with one of the body’s communication lines, the one that triggered production of VEGF and also told the T cells to begin activating. If Dr. Fajgenbaum could get his body to shut down that communication line — known as the mTOR pathway — he might be able to stop his immune system from overreacting and prevent a relapse.
Photo
A nurse at the Hospital of the University of Pennsylvania checks the port on Dr. Fajgenbaum’s chest through which he receives treatment.CreditJessica kourkounis for The New York Times
The discovery was exhilarating. “I felt like I was part of steering the ship,” Dr. Fajgenbaum said. “This time I was part of this team.”
With this major clue in hand, he and his doctors turned to potential treatments, existing drugs that were known to shut down the mTOR pathway. The one that seemed the best option was practically hiding in plain sight. Sirolimus, also known as Rapamune, was commonly given to kidney transplant patients to prevent their bodies from rejecting the organ. The drug had been on the market for years and was known to have few serious side effects.
“I wouldn’t think I ever could have prescribed this to another patient, or told a patient to try it, because we just didn’t have very much data,” Dr. Fajgenbaum said. “But at this stage, I’d had four episodes, and I’d failed everything the doctors had ever given me.”
In choosing to become his own test subject, Dr. Fajgenbaum was following a long line of medical researchers who have experimented on themselves. At the turn of the 20th century, government researchers studying yellow fever in Cuba allowed themselves to be bitten by mosquitoes who harbored the disease; one researcher caught the fever and died. In 1929, Dr. Werner Forssman inserted a catheter into the vein of his arm and guided it to his heart to prove that the procedure worked (he shared in a Nobel Prize for his work in 1956). As recently as 2005, Dr. Barry Marshall won the Nobel after drinking a broth infected with bacteria to prove that it caused ulcers.
This activist approach, Dr. Uldrick said, did not sit well with everyone. “There was some tension between the various doctors about who was driving the boat,” he said.
But the idea that Dr. Fajgenbaum needed to try something new was unanimous: Chemotherapy had worked three times, but the powerful drugs take a heavy toll and can themselves cause cancer if given too often.
Dr. Fajgenbaum eventually prevailed. In January 2014, he stopped taking his old cancer drugs and started on sirolimus. Six months passed, then a year. The weekly blood tests showed that his immune system was returning to normal.
Dr. Fajgenbaum, his health improving, returned to the other challenges that were hampering progress in the field of Castleman disease. He started the Castleman Disease Collaborative Network, a nonprofit whose mission was to prioritize and coordinate research into the disease, which operates out of the Perelman School of Medicine at Penn. Dr. Fajgenbaum, an assistant professor of medicine at the school, and his collaborators assembled an advisory panel of the world’s experts in the disease and set an agenda for answering the most pressing questions.
First on the list is figuring out the cause: Is the disease genetic, a form of cancer or caused by a virus?
As always, the work is intensely personal. Last summer, he drove to Allentown, Pa., to collect a blood sample from a patient with Castleman disease. He placed the vials in his vest pocket, explaining that he needed to keep the blood warm so the tests he had planned would work properly.
“You remind me of a mother hen,” the patient said with a laugh.
That gave him an idea: Dr. Fajgenbaum sat on the vials as he drove two hours back to Philadelphia, the car heater cranked up to ensure they were warm. It was a sweaty ride back, but worth it. “These samples are precious,” he said.
Photo
Dr. Fajgenbaum, in blue shirt at left, and his patient Gary Gravina, right, who both have Castleman disease, having blood drawn last July at the Abramson Cancer Center of the University of Pennsylvania.CreditNicole Bengiveno/The New York Times
In medical research, discoveries come slowly and take twists and turns that no one saw coming. Seasoned researchers have learned to rein in their optimism and to know that true breakthroughs can take years, if not decades, to realize. Not Dr. Fajgenbaum.
“I almost wish that every disease had a David to be a part of the charge,” said Dr. Mary Jo Lechowicz, a professor at the Emory University School of Medicine, who has studied Castleman disease and serves on the network’s advisory board.
Dr. Fajgenbaum’s single-minded mission to take on his own disease is also typical of the rare-disease world, said Max Bronstein, the chief advocacy and science policy officer at the EveryLife Foundation for Rare Diseases in Novato, Calif.
“A lot of mom-and-pop patient organizations emerge to take on these huge challenges in rare diseases,” he said. “I don’t think there’s one correct model for each disease; there’s been so many different approaches.”
Last month, Dr. Fajgenbaum marked his three-year anniversary since starting on sirolimus, a period more than twice as long as any of his other remissions. “I feel 100 percent,” he said.
These days, Dr. Fajgenbaum, now 31, walks through the hallways of Penn’s medical center, his frame again projecting the easy confidence of the athlete he once was. But he jokes that he would have to pull out photos of his days as a quarterback to explain to people why his friends still call him the Beast.
Now, he said, every time he tries to exercise, his mind wanders back to an email he needs to write or a call he needs to make. “It’s not because I don’t have the energy to do it; it’s because all of my energy is going toward this disease,” he said.
Not everyone is convinced that sirolimus is what has been keeping him healthy. Dr. van Rhee noted that while the results in Dr. Fajgenbaum are promising, his is just one case and treatments need to be proven in many more people. “I think the finding is very interesting,” he said, “but we need to see whether a similar mechanism is active in other patients.”
But Dr. Fajgenbaum said he grew more confident every day that it is the drug that is helping. He has begun sharing his experience with more doctors and researchers, is conducting laboratory tests to see if the drug is likely to work in other patients and has started writing an article about his experience for a medical journal. Soon, he hopes, doctors will begin prescribing the drug to other patients.
Dr. Fajgenbaum is optimistic about the drug’s chances but is aware medical science is unpredictable. “Who knows; maybe it will work for only a small percentage,” he said. “So we’ve still got a lot of work ahead of us.”
He now oversees the network’s research from his office in the Hospital of the University of Pennsylvania, five floors above the emergency room where he first learned his body was falling apart. It is also the same building where he spent weeks in the I.C.U., so sick that he said his final goodbyes to friends and family.
At first, when he learned his office would be in the same building, he felt anxious, unsure if he wanted the constant reminder of the ordeal he had endured. A few months ago, Dr. Fajgenbaum was called to the I.C.U. to meet a patient who had just found out he had Castleman disease. He spoke to the patient about enrolling him in a new study, and as he looked out the window, realized the view looked familiar.
On his way out, he bumped into a nurse who remembered him. She noted that he had stayed in the same room as a patient.
Ultimately, he said, he is glad for the proximity. “I didn’t think that I would ever get to leave the hospital, and now here I am, fighting back,” he said. “It’s the ultimate motivator.”
How B.J. Miller, a doctor and triple amputee, used his own experience to pioneer a new model of palliative care at a small, quirky hospice in San Francisco.
