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Penn Doctor Chases Cure for His Own Rare Disease (Castleman Disease); One in Ten Have a Rare Diseae (Over 7,000 Rare Diseases), But for 95% of These Diseases, There Is Not a Single FDA-Approved Drug

In the introduction to his memoir “Chasing My Cure: A Doctor’s Race to Turn Hope Into Action (https://chasingmycure.com/), Dr. David Fajgenbaum discussed how he learned that “hope cannot be a passive concept.” “It’s a choice and a force,” he wrote. “Hoping for something takes more than casting out a wish to the universe and waiting for it to occur. Hope should inspire action. And when it does inspire action in medicine and science, that hope can become a reality, beyond your wildest dreams.” Hope is something Dr. Fajgenbaum, 34, an Assistant Professor of Medicine at The Perelman School Of Medicine at the University of Pennsylvania, knows Intimately. He’s been in hospital rooms as a patient and a doctor — seeing both sides of what it’s like to diagnose and be diagnosed with a deadly disease. He knows what it’s like to experience radical ups and downs in his own health and see others go through the same thing. His life changed in 2010 while he was a third-year medical student at the same university where he now works. He began noticing strange, sudden shifts in his health — from night sweats to fatigue. Within several weeks, his organs were failing, and in November of that year, he was read his last rites. What was wrong? Dr. Fajgenbaum received a very rare diagnosis: Castleman disease (https://www.healthline.com/health/castleman-disease), an immune disorder that results in an overgrowth of cells in the lymph nodes. While not a form of cancer, the condition is often initially confused with a cancer diagnosis. The lymph nodes generally tied to the condition are those found in the neck, underarm, groin, and collarbone. For Dr. Fajgenbaum, a former Georgetown University quarterback who had always enjoyed good health, the diagnosis and the ensuing years of treatment, relapses, and near-death scares, marked a disorienting and frightening shift in his life. It also revealed to him the power of his own resiliency and the healing nature that can come from personal perseverance, as well as from the love and support of family and friends. This period also spurred a new life-calling for Fajgenbaum: chasing a cure for his own disease.

SHEDDING LIGHT ON CASTLEMAN DISEASE

This health journey is the focus of Dr. Fajgenbaum’s book, which was published this past fall by Ballantine Books, an imprint of Random House.

Dr. Fajgenbaum told Healthline that he hopes his personal story can help inspire others who receive a rare disease diagnosis.
“1 in 10 Americans has a rare disease and 95 percent of those diseases don’t have a single FDA-approved drug for them,” Dr. Fajgenbaum said. “For these patients, there can seem to be very little hope.”

When it comes to his own disease, Castleman is extremely rare. It’s estimated that about 5,000 people are diagnosed each year with one type of Castleman disease, and about 30,000 people in total are living with the condition right now in the United States, according to a report from the National Organization for Rare Disorders (https://rarediseases.org/rare-diseases/castlemans-disease/) that Dr. Fajgenbaum helped prepare himself.

The condition comes in two types — unicentric Castleman disease (UCD), which involves a single enlarged lymph node or region of lymph nodes, and multicentric Castleman disease (MCD), which indicates multiple regions of enlarged lymph nodes.

There are two subtypes within MCD. One is caused by human herpesvirus-8 (HHV-8). The cause of the other subtype, idiopathic MCD (which is the type Dr. Fajgenbaum lives with), is currently unknown.

When it comes to treatment, it varies depending on what type of Castleman disease a person has.

For people with UCD, surgery to remove the affected lymph node might be in order, as well as medication to shrink the lymph node or radiation therapy to kill off the diseased tissue.

Treatments for MCD can involve immunotherapies, corticosteroids, and antiviral treatments.

While Castleman disease isn’t cancer, chemotherapy is often used as a treatment to slow down the overgrowing cells in the impacted lymph nodes, according to Mayo Clinic.

Dr. Fajgenbaum added that the subtype of Castleman disease he has, idiopathic MCD, kills 35 percent of people within 5 years of initial diagnosis.

One of the major challenges for Dr. Fajgenbaum was that so little was known about the condition when he was diagnosed. He explained that it was frustrating and disheartening to constantly hit these information dead-ends.

He said helping to demystify the condition was one of his reasons for writing his book.

“The reason I wrote the book? I nearly died five times. One of the times I nearly died, I learned a lot about life and living near to death — those lessons are lessons I wish I learned another way, but I’m hoping to get them to other people so they don’t have to go through all the stuff I went through,” Dr. Fajgenbaum said.

Dr. Fajgenbaum’s long, winding road with the disease followed a pretty carefree childhood that was marked by high achievements.
He was diagnosed with a “hyperfocus” variation of attention deficit hyperactivity disorder (ADHD) as a child, perfect for excelling academically and prepping for football games, but something that “gets in the way of being able to move from one task to another,” as he writes in the book.

Early brushes with setbacks strengthened Dr. Fajgenbaum’s sense of perseverance — something he’d greatly need later in life during his battle with Castleman disease.

During the first football scrimmage of his senior year, he broke his collarbone. His father, who’s also an orthopedic surgeon, initially told him he wouldn’t play his favorite sport again. But after Dr. Fajgenbaum was operated on by his own father, he persisted and was able to play football once more, going on to play at Georgetown.

More personal trauma came in the form of living with his mother’s eventual death from brain cancer when he was just a sophomore in college.

“I was impaled by my mother’s death,” he wrote in his book, describing the crushing experience of watching his mother die, living with chemotherapy and countless hospital stays.

After college, he earned a degree from Oxford University before eventually pursuing his medical training and encountering the unexpected challenges posed by his diagnosis.

“I want people to know that Castleman disease is an immune system disorder that can affect anyone,” Dr. Fajgenbaum said. “I want people to know this is the disease we can all be part of in coming up with a cure. We’ve made a lot of progress, but we need fundraising to drive the science that this is a disease we can all help to cure.”

“I want to raise awareness that it exists and raise awareness that maybe it can not exist if we all work well together,” he added.

CHASING A CURE

Right now, there’s only one FDA-approved treatment for the condition — siltuximab — but it only works for a small number of people with Castleman disease. Dr. Fajgenbaum isn’t one of them.

Over the course of his treatment, he said that he was constantly frustrated by the lack of clear solutions posed by his doctors. Eventually, he took matters into his own hands.

First, he co-founded the Castleman Disease Collaborative Network (CDCN) (https://cdcn.org/) in 2012, an organization committed to tracking down a cure.

The goal was to approach the hunt for a disease’s cure differently than in the past. Instead of competition between leaders in the field, an emphasis would be placed on collaboration between researchers from different disciplines.

Dr. Fajgenbaum, who serves as CDCN’s executive director, graduated from medical school in 2013 and, hoping to push his organization further, enrolled in an MBA program at U Penn’s Wharton School.

During this incredibly busy time, he also proposed to his college sweetheart, Caitlin Prazenica. But their happiness was quickly overshadowed when Dr. Fajgenbaum relapsed again at the end of 2013.

While going through a series of chemotherapy treatments, Dr. Fajgenbaum made the decision to use his medical knowledge to make himself something of his own medical lab rat.

He came across sirolimus, an immunosuppressant drug that’s usually given to people who have received kidney transplants. The drug pushes back against T-cell activation.

Dr. Fajgenbaum said he theorized that it could help put his disease in remission.

So far, it seems to be working.

Dr. Fajgenbaum said the round of chemotherapy he received in 2013 was his last and, as of this month, he’s officially been in remission for 6 years.

He added that the initial goal was to remain healthy long enough to make his wedding to Caitlin in 2014. They’ve been happily married since then, and in August 2018, they welcomed their daughter, Amelia.

“I worked really hard and want to be here forever with her, for this long life with Amelia,” Dr. Fajgenbaum said of one of the key motivators that pushes him to continue to stay healthy.

A NEW WAY OF LOOKING AT RARE DISEASE TREATMENT

Dr. Fajgenbaum has been working with both the FDA and the National Center for Advancing Translational Sciences at the National Institutes of Health (NIH) for trying and testing drugs that have already been approved for conditions that have yet to have any known treatments.

He said his personal experience with sirolimus shows a medical route for thinking outside the box for ways to tackle rare diseases.

Dr. Fajgenbaum has begun enrolling people with Castleman disease in a sirolimus clinical trial. It’s served as something of a beacon to others in the field.

Over the past year, the CDCN has been partnering with the Chan Zuckerberg Initiative (https://chanzuckerberg.com/) — founded by Facebook’s Mark Zuckerberg and his wife Priscilla Chan — to eradicate all disease by the end of the 21st century.

The goal for the initiative has been to use CDCN as a template for treating other rare diseases through a program called Rare as One (https://medium.com/@cziscience/rare-as-one-d6ed9b0b8b16).

Tania Simoncelli, Director of Policy for Science at the Chan Zuckerberg Initiative, told Healthline she met Dr. Fajgenbaum and was inspired by his story before taking on her current role.

She said his commitment to finding a cure for Castleman disease has been “very inspiring.”

She also said his impact is felt by his unusual approach — by creating an expansive community of patients, researchers, and clinicians through CDCN, he was able to foster an environment to “think strategically” about how to treat and cure the disease.

“Research just isn’t usually structured that way,” she added. “David recognized that a lot of the problems weren’t scientific per se, every disease has scientific problems. He is addressing the social problems, the fact that there wasn’t a strategy for solving the disease, the fact that no researchers were working together, weren’t sharing samples, few universities were examining it.”

Simoncelli said that the challenge moving forward for the medical and research communities at large are convincing enough people to take the blueprints provided by Dr. Fajgenbaum’s efforts and apply that to more diseases, to develop more tailored strategies for rare conditions.

TURNING HOPE FOR A CURE INTO REALITY

Toward the end of his book, Dr. Fajgenbaum wrote that his rather extreme medical trials and tribulations — the near-death experiences, the consistent setbacks, and then the choice to proactively figure out his own solution over his healthcare — have left him “liberated to follow my passions and have given me peace, knowing that I’m making the most of every day while my clock is ticking.”

When asked if he’s concerned whether his daughter might possess a higher risk for Castleman disease, Dr. Fajgenbaum said that the medical community doesn’t yet know the answer.

“We think there is a genetic component, but we are doing research to see what that component may be,” he said. “We know most Castleman patients do not have a relative with Castleman. So, it’s not a strong component, but we think there is a component.”

Dr. Fajgenbaum said he’s encouraged by the current clinical trials as well as the research going on surrounding the condition.
“We’re doing everything we can to make that hope (for a cure) become a reality,” he added. “We really do have to do more work to understand more. ‘Why does it happen? How does it happen?’ And finally, ‘How do we stop it?'”

This posting is based on article written by Brian Mastroianni and published on January 10, 2020 for HealthLine, which willingly offered to share the story.

[Healthline article]