Dr. David Fajgenbaum went from being a healthy third-year medical student to suddenly suffering multi-organ-system failure. “I was so sick that my doctors encouraged my family to say goodbye and a priest came in to administer my Last Rites to me,” he recounted during a panel at the STAT Summit in November. “That I’ve considered to be the start of my overtime.”
He started a foundation and threw himself into research to find a treatment for his rare disorder, called Castleman disease, an affliction on the boundary between cancer and an autoimmune disorder. He eventually found an existing drug that worked: sirolimus, used to prevent rejection of kidney transplants. He has now been in remission five and a half years, and “we’re now giving that drug to other patients,” he said.
Fajgenbaum was one of three speakers on the “What ‘breakthrough’ means to patients” panel who had faced a deadly disease — their own or a loved one’s. “Breakthough isn’t something that happens to you,” moderator Casey Ross of STAT said in introducing the group. “It’s something that in many cases you make happen.”
Janet Freeman-Daily described her own odyssey after being diagnosed with stage 3 lung cancer and how she learned from other patients online about a “revolution in lung cancer” based on genomic testing of tumors. She discovered that she had a rare mutation and was able to land the last spot in a clinical trial of the targeted therapy crizotinib. She’s had no evidence of disease since 2012.
Matthew Might had his life turned upside down when his son Bertrand, at age 4, was the first person diagnosed with a particular neurodegenerative disease. He had been a professor of computer science but turned his focus to researching his son’s condition, helping to find a cocktail of five drugs that “have measurably improved his quality of life.”
He said he remembered his son’s doctors saying, “‘There’s nothing you can do for him,’ and I thought, well, there’s always something you can do, and that’s science.”