The lack of medical understanding of the disease meant that it was a death sentence for those who were diagnosed. But before the fourth medical incident, David Fajgenbaum embraced a new motto, “Think it, do it.”
“I realised that if I didn’t dedicate the rest of my life to trying to cure this disease, that no one else was going to do it,” said Fajgenbaum. “I didn’t have many more shots.”
Arduous journey of diagnosis
Fajgenbaum was 25 and in his third year at the Perelman School of Medicine in University of Pennsylvania when he was hit by a series of strange symptoms. His lymph nodes were swollen and he felt stabs of abdominal pain. He also suffered from night sweats, fatigue and weight loss.
“Dave, your liver, your kidneys, and your bone marrow are not working, what’s going on?” the doctors told Fajgenbaum.
Fajgenbaum had to be hospitalised for seven weeks, and during that time, he had a retinal haemorrhage, which left him temporarily blind in his left eye. He also gained 32kg of fluid due to liver failure. Without a diagnosis, he eventually left the hospital with high doses of steroids.
Determined to find the answer, Fajgenbaum pored over thousands of pages of medical records. In his second attack, the steroid treatment failed to work, and doctors resorted to chemotherapy.
As the chemotherapy seemed to have an effect, the doctors initially thought it was a common form of cancer.
However, a biopsy of Fajgenbaum’s lymph nodes later confirmed that he was diagnosed with a rare disease called Castleman disease.
For some, there are few treatment options
A relatively unknown condition, Castleman disease strikes about 5,000 people in the US every year. For most patients, the symptoms are usually mild and can be cured by surgery.
However, Fajgenbaum’s disorder was the most dangerous subtype, idiopathic multicentric Castleman disease which had with very few treatment options. Only around 65% of patients live for five years after being diagnosed.
“What’s remarkable is how dramatic their presentations can be,” said Tom Uldrick, senior clinician at the National Cancer Institute, who has counselled Fajgenbaum on treatment options.
Upon his recovery from the first two near-death experiences, Fajgenbaum started researching about Castleman disease. He realised that researchers across the globe were not communicating, and hence, breakthroughs failed to become cures.
“I think about Castleman disease almost as like a serial killer,” said Fajgenbaum. “Every time it attacks, it leaves fingerprints and it leaves tracks. But no one has been able to put all the clues together to figure out how to stop it from striking again.”
Fajgenbaum gathered the top researchers working on Castleman disease and co-founded the Castleman Disease Collaborative Network (CDCN), in hope of accelerating the journey of finding a cure. The organisation, now comprised of 400 researchers, encourages scientists to share their data on Castleman disease through a common platform.
Patient-run medical research a driving force
Fajgenbaum, now 32, is in his longest remission for a little over three years and is experimenting with a drug therapy on himself. The drug treatment, which he helped to identify, is commonly given to kidney transplant patients to prevent organ rejection.
With an estimated 30 million people in the US living with Castleman disease, Mary Dunkle, vice president of educational initiatives at the National Organization for Rare Disorders, said patient-run advocacy groups are a driving and necessary force in the world of rare diseases.
“I almost wish that every disease had a David to be a part of the charge,” said Mary Jo Lechowicz, a professor at the Emory University School of Medicine, who serves on the network’s advisory board.
The CDCN has also helped in moving the clinical trials for siltuximab, currently the only FDA-approved drug to treat Castleman disease which has benefited about 1,000 patients.
“There are a lot of remaining unanswered questions,” said Uldrick, advisor for the CDCN. “In terms of figuring out what the right treatment is ― to be honest ― we’re in the infancy stage.”
While a therapeutic solution for the disease may still be far off, clinical knowledge and treatment options have grown due to the collective effort, which undoubtedly brings hope to the patients. MIMS
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