Tuesday, December 7, 2010

Bad News

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.


  1. Hopefully they can control her symptoms with minimal intervention. There are a lot of patients with CF who are seen by motility specialists because of extreme constipation... although ulcerative colitis seems to suggest opposite symptoms. I don't know much about CF other than the info Dr. Boyle shared with me, because he thought I had it.

    It's pretty impressive that pseudo- uncle diagnosed her. I will be sure to pray for Jillian.

  2. Oh yeah… and Dr. Sherry (crazy magician doctor with the beard) said that they sometimes put the Cystic Fibrosis kids in a “shake machine” to shake them until they have to use the bathroom (GI wise). I certainly hope he was kidding!

  3. Interesting information. Pseudo aunt is dealing with the opposite of constipation. My dad said with little kids and babies that have cystic fibrosis, parents have to pound on their upper torsoes multiple times each day to loosen mucous in their lungs. I did read that CF patients need regular cardiovascular exercise, and Jillian runs middle distances or wind sprints every day. That much is good.

  4. I heard of another case like this. That person reached their 40s before they were diagnosed. They, too, had very mild symptoms.

    That salty taste thing is interesting. Hope she can cope well with the diagnosis.

  5. I think the diagnosis hit her pretty hard. I still don't know anything about just how advanced the condition is in her case. Apparently her husband has suspected it for six months or so but was finally able to persuade her doctor to look at her and test for it.

    I would have to assume it can't be too advenced if the doctor didn't suspect it at all, but I could be wrong. She's had pneumonia more than ten times, so there could be some scarring, but her lungs are really well-developed from running, which helps because the lungs have much greater reserves than they would without the heavy cardio workouts. (She said her parents always nagged her about that because they said it was making her too thin, but it ends up that it was a very good thing.)

    Part of the issue now will be whether or not it is a good idea to have children both from the standpoint of how long she will be around to raise them and considering whether or not she will be healthy enough to sustain a pregnancy without doing irreparable damage to herself. My dad said she really needs to find a specialist near the area where her husband will do his medical residency because it would be better if she didn't start treatment with one facility and then switch in seven months, especially since her parents are wealthy and can afford to pay for her plane tickets until she and pseudo-uncle move this summer. Then once she is thoroughly evaluated, if she decides she wants to go ahead with pregnancy, she should just do it, since it's unlikely that her situation will drastically improve and possible it will get worse.

    Her parents want her to quit teaching now so she won't be exposed to as much. She doesn't want to quit. It's her decision of course. I think she should quit because her parents can afford to give her part of her inheritance now, and the money she would need to help support herself and pseudo-uncle is a very small amount in terms of how much she will inherit eventually. For that matter, she probably has some sort of salary insurance and could probably be granted medical leave.

    It's a good thing that she's teaching sixth grade and not kindergarten because sixth graders aren't quite as germy.

    Matt, how old is the person now who was diagnosed in his forties, and what is his physical condition?