Saturday, December 6, 2008

The Sweat Test

Babies hooked up to oxygen in the Pediatric Pulmonary/Cardiac waiting room. “I think I’m in the wrong place,” I say to the receptionist. “I was sent here from Genetic Counseling for a Sweat test.”
“No, this is it,” she says, typing something unrelated into her computer. “We have the Sweat Lab here.”

I’m called in. Stephanie the aspiring physician's assistant straps electrodes to my right arm, one red and one black, like I'm a car battery that needs charging.
"This doesn't hurt," she says, "but it kind of stings." It doesn't do either, and I think she is used to working with scared kids who perceive any change to their bodily sanctity as pain. At my questions, Stephanie talks me through the test, which involves a current being run through two gel discs (ends of the battery charger) placed on the inside of my forearm and middle of bicep, first right arm, then left. After five minutes the discs are removed and a collector, which looks like a Star Wars comlink, is strapped on with Velcro, then wrapped in gauze and Saran Wrap. The comlinks talk to my skin. I am sweating through two glands into tiny coils of plastic tubing. I am reading Ellroy in the waiting room.

I'm getting a sweat test because I have two very rare generic mutations that cause cystic fibrosis, discovered in a thorough genetic screening during my initial phase of becoming an egg donor for a couple who were unconvinced by my initial negative cystic fibrosis screen. The normal screening for cystic fibrosis only looks at 97 possible mutations. I had none of those, and tested negative. But the recipient couple are worried because the husband is a carrier. The chances of my having one mutation after a negative screen were about 1 in 300,000. Then, I had two. We don't know if I'm cis, meaning both mutations occur on the same gene, or trans, meaning one occurs on each strand. I don’t quite understand it except: the mystery is whether one or both of my parents is a carrier of cystic fibrosis. If I’m trans, I might actually have the disease. I’m sitting in the waiting room with the sweat collectors around my forearms, hidden under my sweater. They are comlinks, talking to my genes. Trying to find out if I’ve secretly been sicker than I ever thought possible. Cystic fibrosis usually presents immediately in children as respiratory problems, failure to thrive, and other dramatic symptoms. But in adults it can go undetected, in mild forms, for many years. Sinus problems. Diarrhea. Things you don’t think too much about.

A harried mom struggles with plastic tubing and her normal- looking son gets a quick aspiration if the throat. "When you got a kid like this, you don't got no life," she says to another mom. "For-real-for-real. You don't got no life." Another baby to my left is hooked to an oxygen tank and hovers on the edge of sleep.

In recent months I've been getting teased for how much I sweat, and I wonder if right now my little glands are responding with a normal amount, or with a vengeance. We are looking for elevated levels of salt, the diagnostic test for cystic fibrosis. In the last day I’ve been informed that it’s possible I’ve had this disease in mild form my whole life, and then would be at risk to manifest symptoms as I get older.

Finding Nemo plays on the ceiling-mounted TV and a woman to my right studies irregular Italian verbs. After a half-hour of sweat production I can’t feel, as the Italian student and I are discussing the way pictures of Tuscany motivate her to study the language better (she's about forty and in her first semester if college, which I normalize without hesitation by not commenting on how "great" it is) Stephanie appears. "Thanks for sharing that with me," the Italian student calls after me as I go, and I don't quite know if she is referring to my love if Italy or just our moment of non-anonymity together, so rare in this city in particular.

Stephanie chats. She admits that she decided not to try and be a doctor because it's too hard and takes too long. A physician’s assistant does many of the same tasks without the years of internship. Stephanie uses a syringe to peel out the tightly coiled tubing in the sweat collectors. She says I sweat plenty. “You're good,” she says. “Some people don't really sweat at all.” Tell me about it. She clips the other end of the tubing from the plastic disc on my arm and puts that end in a half-inch-tall plastic vial, then pushes air through the tube with the syringe until the sweat all deposits in the vial. It's ingenius, this little system. It's science fiction. Something in the collectors has turned the sweat bright blue, like those Gatorade commercials. Stephanie wipes my arms. I ask if I’m going to continue sweating from the stimulated glands. She smiles. “No, you should be all set.”

I’m standing at the clearance rack in the Downtown Crossing TJ Maxx when I get the call: negative result. "We consider this result very diagnostic," the friendly genetic counselor says. And that’s it—in 24 hours it’s over. All I’ve got are two silent, recessive, super-rare mutations. “I already knew I was special,” I tell my nurse later. She laughs.

Egg donation is a strange procedure. A couple spends thousands of dollars selecting an anonymous donor with features they like, many of which have an undiscovered or unknown link to genetics: creativity, sociability, leadership. They pick a donor who looks like the recipient wife. They rule out donors with genetic diseases: cystic fibrosis is one of the main concerns, because of how common the recessive mutations are, and how severe the disease. But the phobia of cystic fibrosis is extreme: many donation agencies won’t even use women who are carriers, even if there’s no risk of disease development with couples who are using male DNA that doesn’t carry the mutation. This speaks to a level of emotionality and irrationality in the field that should concern everyone.

Donation is lucrative for the donor. It’s a last-chance effort for the recipient couple. It’s eugenics. It’s altruism. It’s for couples who really believe it’s important to have their OWN baby, at least 50% genetically, and carry it in the mother’s uterus, rather than adopt or give up. It’s only for people who can afford it, and often they spend everything they’ve got. I’ve signed two contracts that allow possible offspring to contact me when they are eighteen years old. I’ve told two psychologists, totally honestly, that that possibility intrigues me and is fine with me. I like the idea of my genes getting passed on without my having to raise a child. Donating eggs has helped me pay student loan debt and have time to write, which feels very close to justice, and I’m grateful for it. I think about people who would go to these lengths to be parents and I would rather them raise a child than someone more haphazard, less invested in the role. Still, the ethical issues are myriad. Myriad and seemingly brand new, because the technology is so new—like stem cells and cloning, it’s become another part of our cultural conversation about how much or how little to intervene in “nature.” That conversation, however, is as old as science itself.


  1. I would say that you should consider yourself very lucky. Not only for not having CF but also you know now that you are a carrier. Having two mutations, morethanlikely, you will pass at least one to your offsprings. CF is a very serious condition but in no way defines those who have it.

    Anna mom of 3 one with CF

  2. Thank you, I certainly am grateful!And I think your point is very important: that this is a serious disease that doesn't define people. My ethical issue with all the testing is the way that we tend to think about chronic illnesses as what DOES define people, before they've had a chance to grow.

  3. When I was on my pediatrics rotation as a medical student, I cared for 2 CF patients on the ward. The girl was a year older than the boy, both teenagers. I think they were in love. They knew each other well from their frequent admissions for chronic pulmonary infections. One day on rounds, my attending physician forbade them from seeing each other. Their culture results had grown different bacterial strains, and he feared they would cross contaminate each other and worsen their illnesses. Both of them threw fits, but their nurses were ordered to keep them separated. The next afternoon, I saw them together in the hospital cafeteria, holding hands. I never did tell on them.

  4. V, this is fascinating. Thanks for sharing.

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