My pseudo-aunt, who babysat me for the past two summers even though I was far too old to need the services of a babysitter, has been diagnosed with, of all things, cystic fibrosis. She's twenty-three years old. I had no idea a person could live that long with the disease without having been diagnosed. It wasn't as though she lived in a third-world country with no medical care and ignorant parents. Her father is a doctor and her mother is an RN. I thought that the screenings routinely performed on infants would have caught it, but apparently if it's a really mild case, it can slip through the screenings.
The good news is that it's a mild case, that treatments for CF are advancing almost every year, and that life expectancy should be much greater for anyone who made it to adulthood without a diagnosis. The bad news is that it's still cystic fibrosis and that it is still incurable to date. I don't know a whole lot about her particular case, and I suspect the last thing she wants is to answer a lot of questions from nosy relatives and pseudo-relatives.
I asked my dad about it. He said he plans to wait a week or so for the shock to abate, then call to ask if pseudo-uncle if he would like my dad to put my pseudo-aunt and her husband in contact with a few sources to get up-to-date information. As a doctor, my dad understands the physiology of cystic fibrosis, but his specialties are not at all related to the condition. He deals with oncology and hematology research. Additionally, he is certified in emergency medicine because he completes most of his required hours of practicing medicine in emergency rooms, although he does some clinical work in hematology and oncology. As a research physician, he knows a lot of other researchers in other areas of medicine. My pseudo-relatives aren't totally without connections, but my dad is more connected because of his research background.
My pseudo-uncle is the one who proposed the diagnosis. He's just a fourth-year medical student. I remember when I was last there he kissed his wife on the forehead and said that she tasted salty. I didn't think anything about it at the time, although I'm not a doctor. Her main symptoms were digestive, and the doctors were suspecting Crohn's Disease or ulcerative colitis. (I wonder why Crohn's Disease is named after the person who first documented the condition, but ulcerative colitis is just called ulcerative colitis. Maybe the person who first documented ulcerative colitis had a stupid-sounding name, but I digress.) My pseudo-aunt had also experienced more lung problems than most normally healthy people do, but my pseudo-uncle said her parents always wrote it off to poor eating habits and burning the candle at both ends. She's really skinny, but her mother and all her brothers are thin as well.
My pseudo-aunt's parents are reportedly taking this hard and blaming themselves for not catching it. They're not very kissy people, so maybe they didn't kiss her very much when she was little and didn't notice the salty taste. She couldn't just have developed the disease, as cystic fibrosis is something that a person is born with, but maybe her symptoms were so mild that she wasn't salty until recently. My dad doesn't think earlier treatment would have mattered that much because if she wasn't showing many symptoms, she didn't need treatment for the most part. Regardless, the parents are accomplishing nothing by blaming themselves, but my dad said that's what parents do.
I will research the condition just so I can have a better understanding of it. The problem is I am such a hypochondriac that I will soon start to imagine the symptoms myself once I learn of them. C'est la vie.