What’s my definition of a sad day in the ER? Having the sister of one of my favorite oncology patients sent in by her doctor for new-onset trembling of her hands, and diagnosing her with a big intracranial mass. Now, their mother has two children with cancer, a two and a half year-old with metastatic rhabdomyosarcoma and a four year-old with a brain tumor, and needless to say, she was on the verge of a total breakdown when my shift ended. Despite my additional hour in the hospital (spent running interference between the neurologists, the neurosurgeons, and the intensive care team who was preparing for her transfer to their unit), I still left trying to put myself in their family’s shoes; I can’t begin to fathom what they must be feeling right now.
Jul 19, 2002 | Q
God, that’s awful. Do you think there are any environmental factors at play there (e.g., they live in a known cluster area?). They’re lucky to have you on their team, Jason. Rock on.
• Posted by: Liz Tracey on Jul 19, 2002, 3:17 PMLiz, I ran into one of my favorite geneticists today, and they’re thinking that the family is what’s called a Li-Fraumeni family. In technical terms, it’s a family that has mutation in the p53 tumor suppressor gene that is passed on in an autosomal dominant fashion.
What’s that mean in layman’s terms? There’s a gene that normally serves to help regulate the growth of cells — it helps kill off abnormal cells, cells that multiply beyond reasonable limits, that sort of thing. Families with Li-Fraumeni have a mutation in that gene, and it doesn’t do its job; that means that cancers are much more likely. And the disease is passed on dominantly, which means that you only need one copy of the gene to have the disease, and if you have it, your offspring are 50% likely to have it, as well.
It’s a sad condition, and whether or not it’s specifically at work in this family, they’re devastated.
• Posted by: Jason Levine on Jul 27, 2002, 12:52 AMJust as another update: the 4 year-old is now entered into a stage I FDA trial, with the goal of trying to determine dose toxicity of a drug aimed at pediatric brain tumors. There are a few kids on the protocol who are doing well a year out of therapy — it’s a hope.
• Posted by: Jason on Aug 16, 2002, 11:25 PM