House Detectives | Page 4 of 4

House Detectives

At NIH, a highly specialized team takes on the cases other doctors can't solve. Think Sherlock Holmes meets TV's Dr. Gregory House-minus the obnoxious 'tude

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Dr. Bernadette Gochuico, right, consults with Nancy Groski and her husband, Jim. Photo by Stacy Zarin-Goldberg Earlier in the day, Gahl, who is a father of four and grandfather of three, saw two children during UDP rounds. One, an 8-year-old boy, is gradually losing his ability to walk. The other, an 11-year-old girl, began having trouble walking after she turned 5. Now “she’s lying in a bed, able to eat, but very poorly responsive. She’s basically on her way to dying,” he says. He noted tears in the eyes of some of the doctors who accompanied him.

The Groskis had never heard of the NIH, let alone the UDP, until a co-worker suggested that Nancy look into it.

Childless by choice, Nancy worked full time in human resources for a large bank, her employer practically since high school. She enjoyed good health until August 2009. Then, two weeks after throwing her husband a 50th birthday party, she awoke to find the right side of her upper lip numb. Within another two weeks, she was numb all over.

She says it resembles what happens when you sit on your foot too long and it falls asleep, only this was her entire body and it never woke up. Doctors in Buffalo suspected she had multiple sclerosis, but they ruled that out. They now refer to her condition as “persistent sensory neuropathy.”  

She was out of work for five months, but telecommutes these days. On conference calls, the other people have no idea she’s sick. The neuropathy, however, has slowed her down. Sometimes it takes three or four attempts to click the mouse before she can open an email. She used to type 70 words a minute using all 10 fingers. Now she pecks with her index fingers.

“You learn to compensate,” she says. She has figured out how to tie her shoes, but her husband has to insert her earrings. Walking is difficult, because she can’t feel the ground beneath her feet. “I’m like a 90-year-old woman walking around the house,” she says. Because her face is numb, eating is tricky, too, and she lost 20 pounds before the prednisone used to treat her lung inflammation caused her to gain weight.

More than anything, though, Groski misses driving. Her husband, an information technology professional, does all the grocery shopping now, and she depends on him, a girlfriend and her nearby parents to take her to medical appointments. It’s not lost on Groski that she needs to count on her 75-year-old mother and 77-year-old father to keep her from falling. As for her husband of 16 years, “he truly has been my savior,” she says.

UDP patients typically have a variety of symptoms, and Groski is no exception. “It would really be unbelievably coincidental” for all of them to occur in one person without one underlying disease to tie them all together, Gochuico tells her.

Besides the neuropathy, there’s the inflammation in her lungs. And her red and white blood cell and platelet counts are lower than normal, a condition called pancytopenia, which can be caused by any of multiple diseases.

Genetic analysis of blood samples from Groski’s family might prove fruitful. Although her parents are healthy, Groski’s only sibling, a 39-year-old brother, suffers seizures that have prevented him from driving for years. His blood counts are low, too, but he has been diagnosed with Evans syndrome, a rare and incurable disorder in which the immune system makes antibodies that destroy the red and white blood cells and platelets. The cause is unknown, according to the Office of Rare Diseases Research, but it does not appear to run in families.

During their time in Bethesda, the Groskis dine a few times at Bethesda restaurants, and Nancy gets two nights with her husband at the Bethesda Court Hotel. They hope to take in some of the D.C. sights before flying home, but an early snowfall intervenes.

As her week in Bethesda draws to a close, Nancy says, “We understand that we’re not going to leave here tomorrow saying, ‘Oh, I’m cured, I know what it is, I take this pill.’ ”

A month after her return home, with neither a new treatment nor a diagnosis, her voice wavers between discouragement and hope. “They ran everything possible on me,” she says. “If anybody is going to figure out what’s wrong, it will be them.”

Rita Rubin is a former health writer for USA Today. She lives in Bethesda.

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