To Catch a Killer Gene: Sisters Race to Stop Mystery Disease

Days before she ended her pregnancy, Joselin Linder was thrilled to imagine herself as a parent. She was 37, newly-married, and though her baby-to-be wasnt planned, it was soon deeply desired. Maybe its that I played with dolls until I was so old I had to play with them in my closet, she says. But it seemed inevitable that I would one day be a mother.

Linder is not a mother today, more than a year later, because she had an abortion at 10 weeks. She still wanted the childwanted to call it George, perhapsbut she feared she would pass along the disease that killed her father in mid-life, practically fusing his organs and ballooning his body. She and her sister Hilary inherited the same unnamed illness, but as with most of the thousands of inheritable diseases known to science, there is no cureexcept for stopping the affected bloodline.

Its an agonizing form of prevention the Linder sisters have turned to four times combined. Theyve had three abortions, and in 2009, Hilary and her husband paid $20,000 out of pocket for a round of in vitro fertilization aimed at creating an unaffected embryo. The gene has killed five people in the Linder family, and it now threatens the sisters themselves. But if they have their way, it will die out in their generation.

I think thats a big deal, says Joselin, who lives in Brooklyn, N.Y. I think weve done something amazing with this particular gene.

The Linders story is personal, of course, but its also a public milestone. Its the first known example of genetic medicine not only identifying a deadly new mutationakin to the next Huntingtons or Cystic Fibrosisbut of a family banding together to stop a disease before it cuts a path through society itself. It illustrates the promise of genomic medicine, which may one day stop disease as we know it, but also the soul-troubling questions that arise when people have a hand in their own evolution.

America is experiencing a boom in biological fortune-telling. Doctors can now scan the genes of a fetus using only a drop of the mothers blood, testing for hundreds of known mutations, including Down syndrome. Soon theyll be able to detect a growing list of rare mutationsalmost none of them treatableand predict an embryos risk of more common ailments like diabetes, cancer, and heart disease. By that point, millions of pregnant women will be offered a God-like view of their child-to-be and a decision much like the Linders, a decision as miraculous as it is unnerving: When is a life worth living?

The family gene, as Joselin calls it, surfaced in the late 1980s, when her father William came home from a family trip complaining of swollen legs and strange fatigue. He waved it off as jet lag, but the swelling spread and the fatigue deepened. He was 40, vibrant and fit, a busy doctor in Columbus, Ohio. But within a couple years he was forced into semi-retirement, hardly able to take the stairs.

Im very, very sick, he told Joselin, who was then 17, and surprised to see her father start to cry. In the years that followed, his body filled with a creamy white fluid, which doctors pumped out by the liter. He got rounder, but lighter, his muscles withering even as something in his belly grew.

He moved into Brigham and Womens Hospital, a Harvard-affiliated facility in Boston, where he confounded some of the countrys best doctors. In his records, which Joselin shared with NBC News, a series of gobsmacked specialists noted puzzling resultsan occult malignancysomething brewing. None could come up with a diagnosis, however, let alone a cure.

William Linder died a medical mystery in September of 1996, his autopsy revealing a body both starved and bloated. The cause of death was officially unknown. His daughters visited him often, right to the end, shuffling ICU visits into their college schedules. They never suspected that they were getting a preview of their own genetic destiny.

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To Catch a Killer Gene: Sisters Race to Stop Mystery Disease