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At 32, Sheryl Grossman still shops for clothes at GapKids. She drives her own car, a Toyota Scion, even though at 46 pounds she ought to be riding in a car seat. She's 49 inches tall and her hazel eyes, slightly tilted, give her an elfin appearance. Her voice is light and high-pitched. It is easy to mistake her for a little girl, and many people do, including the occasional pedophile — whose name she'll record and pass on to authorities.
Grossman has Bloom's syndrome, one of the rarest diseases the world has ever known. Since its discovery in 1954 by a New York dermatologist named David Bloom, fewer than 300 people have been diagnosed with it worldwide.
Bloomies, as the afflicted call themselves, seldom grow taller than four and a half feet or weigh more than 90 pounds. Their heads are small, their faces long and narrow. Ultraviolet light, even on cloudy days, makes them break out in painful sores on their lips and butterfly-shaped rashes across their cheeks.
Most Bloomies develop cancer by their mid-twenties, usually in the colon or respiratory tract. They are prone to diabetes, allergies, asthma, pulmonary disease, ear infections and immune disorders. The men are sterile. Bloomies die young, many well before reaching adulthood. There is no cure, and no one with this genetic disorder has ever lived past 48.
The Bloom's gene is recessive and carried by just one person in a thousand. Two carriers have a 25 percent chance of having a child with Bloom's. One-third of all sufferers are Ashkenazim, Jews of Eastern European descent. More than half live in North America and very few have ever met another Bloomie. Neither have their doctors. The scientists who study the disease concentrate on DNA and blood samples. When it comes to navigating daily life with Bloom's, patients are pretty much on their own.
Sheryl Grossman, one of an estimated 162 Bloomies alive today, was determined to change that. A year and a half ago, she created a Web site called Bloom's Connect, a place where victims worldwide could come together to compare their experiences and provide counsel on everything from disability benefits to where to buy shoes.
Through Bloom's Connect, Grossman found 69 other Bloomies and their families. They talked over the phone and by e-mail. Last month in Chicago, Grossman staged the first annual Bloom's Connect conference. Seven Bloom's patients managed to attend. They came from four countries.
It was the first time more than two Bloomies had ever gathered in the same room.
Sheryl Grossman has 29 doctors. She visits four or five of them every week.
She must balance 200-plus doctor visits a year with a full-time job as a social worker and several part-time baby-sitting and teaching gigs. She never goes anywhere without her datebook. "It's very tiring," she says. "Pain management is my main issue, but a lot of the visits are because everyone keeps shuffling me around."
Most of her doctors are oncologists who monitor her closely, particularly after her bout with colon cancer three years ago. There's also her primary-care physician, the ear, nose and throat doctor, pain management and pulmonary specialists, the endocrinologist, the allergist, the neurologist, the ophthalmologist, the dermatologist and the ob-gyn. When she has a mammogram, she needs an MRI because she's too small to fit into the machine.
She has asthma and is so sensitive to cold that she keeps the thermostat in her University City apartment at 88 degrees year-round. "Any air or water less than 76 degrees bothers me," she says. "It feels like millions of pinpricks. The pain is the background of my life." Grossman also suspects it contributes to her constant fatigue, which at one point was so severe that she considered buying a motorized scooter to get around. But she gave up on that idea when she couldn't find a scooter small enough.
The colon cancer, meanwhile, has not returned, and she's seen no signs of the diabetes, arthritis or thyroid problems that have plagued others with the disease. "I'm pretty healthy for someone with Bloom's," she says.
But because Bloom's is so rare, many doctors have never heard of it, let alone treated it. As a result, Grossman sometimes has trouble getting the medical care she needs. "Once I was at an out-of-town conference," she recalls, "and I started coughing up blood. It was tangentially related to Bloom's, a bronchial infection. I went to the emergency room and they made a note in my file that I had come in because I was throwing up blood because I was anorexic."
Even for a Bloomie, Grossman is unusually thin. She has a small stomach and a bird-like appetite. Her mother, Karen, says it can take her half an hour to eat a piece of chicken. As far as liquids go, "I don't like water," says Grossman. "The texture bothers me. I'll drink hot chocolate, though."
An observant Jew, Grossman keeps kosher, which further restricts the food she'll eat. She hates to cook, mainly because she can barely reach the kitchen stove and countertops in her one-bedroom apartment. Like other Bloomies, she relies on step stools and avoids the high shelves. "It's annoying," she says. "As soon as I buy my own place, I'm getting the kitchen customized."