As part of ongoing events surrounding Rare Disease Day, which is officially recognized on the last day of the month of February, Patient Worthy attended sessions of the 8th Annual Rare Disease Day Genomics Symposium, which is hosted by Alabama Rare, the University of Alabama at Birmingham, Children’s of Alabama, and the Alabama Genomic Initiative.
The Friday session featured a keynote address from a well-known individual in the rare disease world: Dr. David Fajgenbaum, a doctor and researcher who has become notable for his work surrounding Castleman disease and his own patient story. Dr. Fajgenbaum was diagnosed with the illness and was able to successfully repurpose an existing drug to treat himself. In his address, Dr. Fajgenbaum reflected on his experience and shared some of his insights and perspective in the realm of developing personalized treatments in rare disease.
About Castleman Disease
Castleman disease causes a variety of life-threatening symptoms and is characterized by an excessive production of lymphocytes, a type of white blood cell. Idiopathic multicentric Castleman disease is the most severe type. The precise cause is still not entirely clear, but it is most likely that the immune system plays a significant role. Symptoms are severe and varied, including enlarged lymph nodes, fatigue, night sweats, weight loss, fever, enlargement of the liver and/or spleen, fluid accumulation, shortness of breath, coughing, and dysfunction of vital organs, like the liver, bone marrow, and kidneys. Treatment includes siltuximab (the only FDA approved treatment), chemotherapy, surgery, corticosteroids, and immunosuppressants. To learn more about Castleman disease, click here.
Dr. David Fajgenbaum: Developing Personalized Treatment for Rare Diseases
Dr. Fajgenbaum was inspired to go into the medical field after his mother’s struggle with brain cancer, which ultimately claimed her life. He first began experiencing symptoms of idiopathic multicentric Castleman disease when he was still in medical school. The disease symptoms worsened rapidly and there was a real chance that death was imminent. During those difficult days, when he didn’t have a diagnosis, his father was on the phone with Dr. Anthony Fauci, current director of the US National Institute of Allergy and Infectious Diseases (NIAID) and chief medical advisor to the President, trying to figure out what he had. Dr. Fajgenbaum mentioned this fact to emphasize the critical and sometimes life-saving role that a rare patient’s family can play:
“The role of family and friends can be vital in keeping patients alive.” – Dr. David Fajgenbaum
Common therapies such as IL-6 inhibitors didn’t work for him and he faced multiple serious disease relapses despite strong treatments like chemotherapy. Growing increasingly desperate, Dr. Fajgenbaum, with help from many others, such as patient groups, family members, and other researchers, began studying potential treatment targets for his variant of Castleman disease and identified the mTOR pathway. He began organizing this research by helping establish the Castleman Disease Collaborative Network.
After identifying the mTOR pathway as a possible treatment target, Dr. Fajgenbaum found the drug sirolimus, (also called rapamycin) which could inhibit the mTOR pathway. This was a drug that had already been approved for other uses. He decided to test the drug on himself and found that it was able to produce a complete remission. He continues to take the drug to this day. Sirolimus is currently in the midst of clinical trial testing for Castleman disease, but it is clear that not all patients respond to it as well has he does.
With this in mind, Dr. Fajgenbaum has continued to contribute to research related to the disease. During the keynote speech, he advocated for a model that included crowd sourced funding and incorporating all stakeholders, especially patients, in the research and drug development process from start to finish:
“Patients need to be at the center of drug research. You don’t have to be a credentialed expert or doctor to contribute and make a difference.” – Dr. Fajgenbaum
Dr. Fajgenbaum concluded his talk with a message about humor and hope. He mentioned humor because it specifically helped him get through the toughest and most dire moments of his experience as a patient. Hope meanwhile, is essential for pulling through, but it can be a real game changer when that feeling of hope can translate into action.