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."
Her size makes it difficult to buy clothes appropriate for her job. "I have to be in business dress or business casual," she explains. "If I were a man, I could wear a boys' suit, but all the dresses for five-year-olds are so frilly. I'm really picky. I pay a lot for custom stuff. I tell people they should learn to sew, which I, um, can't."
Grossman's wardrobe is a mishmash of finds from department stores and hand-me-downs from the girls she baby-sits. She gets her hats at babyGap, size 12 to 24 months. Whenever she or her mother finds a skirt or jacket that's the right size, they buy two.
One of the unforeseen benefits of Bloom's Connect has been the opportunity to swap clothes and shopping advice with other Bloomies. Fashion discussions invariably return to shoes. Grossman wears a child's size 13, too small even for custom shoemakers.
At the Bloom's Connect conference, a flurry of excitement ensues over a store in New York that supposedly sells adult shoes, even high heels, in child sizes. "Do they do mail order?" asks Karen Grossman. Alas, the store has closed. The disappointment in the room is palpable.
"I hate walking down the street, especially on St. Patrick's Day," Sheryl Grossman confides. "People pat me on the head and ask for wishes, like I'm a leprechaun. It's hard to go to public places where there are exhibits. I become one. People are there to look at things that are unusual, only I'm not in a cage or behind glass."
Bloomies have devised various ways of coping with the constant staring. Jason Hesch of Washington, D.C., takes an agreeable approach: "When someone says, 'You're short,' I say, 'Yes, I am.'"
"If someone makes fun of me, I'll stare them down," says Stacey Dentz of Monroe, New York. "And then they'll shut up."
"I get it most in public spaces, like the mall," recounts Grossman. "A child with a parent will ask, 'Why is she so small?' Kids get it, but don't. I'll go over and get down on the child's level and say, 'I'm short because God made me this way. I'm OK with it. We're all different.'"
Still, Grossman admits it's tiring to get stared at "10,000 times a day."
She tries to be philosophical. "When someone has a very obvious physical difference, it can take more time to move beyond that," she says. "Normal may look different, but life can still be normal. We go to school, have jobs, date, get our hearts broken, just like anybody else."
Grossman encourages her fellow Bloomies to lead as normal lives as possible and insists that they apply for jobs that are not beneath them. "The hard part here is convincing ourselves we can do high power work," she wrote on Bloom's Connect. "Once this hurdle is overcome, convincing the workplace of the same becomes easier."
Among the Bloomies in Bloom's Connect, Stacey Dentz, 35, is the only one who is married. She met Eric, her husband of three years, on JDate, the Jewish dating Web site. On her profile, she wrote that she had light brown hair and was four-foot-three, but didn't mention she had Bloom's. "They don't need to know," she says.
As it was, JDate was difficult. "Some people were so rude," she says. "They'd be like, 'Omigod, you're so short!' and I'd be like, 'Screw you.' Then there would be some guys who just wanted to see if they could get with a small chick."
Sheryl Grossman has encountered men who pursue her mainly because of her tiny stature. "These people recognize that they can get away with things with me that they can't get away with a child," she says. "They're really looking for a child, and settling for me. I can usually figure it out and then I string them along, just enough to get their name and phone number. I jot it down as if I'm interested, and then I turn them in later to the police."
Stacey Dentz says height has never been an issue with her five-foot-eight-inch tall husband. "He didn't see me as short. He just saw me as me. I mean, he cared that I have Bloom's, but he saw me for who I am."
Dentz does her share of the household chores, including grocery shopping and laundry, and like Grossman and Hesch, drives her own car, a Subaru. All three must raise the seats so they can see over the dashboard and push themselves forward with cushions so they can reach the pedals.
While Dentz has no plans for children, the unmarried Grossman wants a "tribe." "If I have a child with Bloom's," she says, "I'll learn how to deal. If I have a child without a disability, that's OK, too."
Grossman was a year old when she was diagnosed with Bloom's. She was born at full-term, but small — Bloom's babies weigh between two and four pounds — and she didn't grow. Her parents didn't begin to worry, though, until the following summer.
"The first thing we noticed," says her mother, "was when we took her out in the sun, she would get sores on her mouth and face."
The Grossmans' pediatrician referred them to a dermatologist. "I give a lot of credit to that dermatologist," Karen Grossman says. "The first thing out of her mouth was, 'I don't know, but I will find out.'" The doctor consulted with colleagues on the East Coast, and after three months of testing, they had a diagnosis.
Grossman had a relatively normal childhood in Flossmoor, Illinois, a suburb of Chicago. She went to public schools and summer camp. Her parents tried to hide the news that she had Bloom's for as long as they could.
"We told her that she was small and would always be small," her mother recalls. "We told her what she needed to know, like that she needed to wear sunscreen. We never went into all the aspects until she needed information."
Grossman didn't learn the full truth until she was fourteen. "It was traumatic," she remembers. "I was angry at the world. I knew I had this condition and I was wallowing in self pity."
In her sophomore year at Washington University, Grossman discovered Paraquad, a St. Louis organization that helps disabled people live independently. "I didn't know I had the right to have the light switches in my room lowered instead of jumping up and down every time I tried to turn on the light," she says. "I felt validated. Finally, I had the tools to mitigate my condition."
That same year she met Alex Turtletaub through friends in the local Jewish community. Turtletaub, three years older than Grossman, lived in Albuquerque, New Mexico, and was also a Bloomie.
"My eyes bugged out," Grossman recollects. "It was so rare of an experience, like finding a parent who gave you up for adoption. We were more like each other than our families. It was an instant bond."
They compared their experiences and devised ways to live a normal life. They refused to participate in medical experiments or take part in what they considered unnecessary preventative treatments. "I was in college," Grossman explains. "I wanted to live my life instead of going from doctor to doctor."
Most of all, Grossman says, "Alex and I were committed to forming a support group of other Bloomies. We knew we were getting older. Not many of us make it to adulthood."
Turtletaub died of cancer five years ago. He was 30. Grossman continued her search for other patients. A year and a half ago, her friend Rabbi Hershey Novack of Wash. U. Chabad, a Jewish student organization, suggested she set up a Web site. He lent her his computer and helped her buy the domain name. Within a week, she had her first contact, from Israel.
When Grossman learned that the University of Chicago planned to host a conference in late May for the scientists who study Bloom's syndrome, she seized the opportunity to try and bring the entire far-flung Bloom's community together for the first time — not just those with the malady, but also their doctors.
Grossman's plan didn't work out as she'd hoped. The medical conference, with its presentations on genes and proteins, proved far too technical for anyone but seasoned researchers to understand. Besides, the Bloomies were more interested in getting to know each other. So while the scientists met at the University of Chicago's Gleacher Center downtown, the Bloom's contingent gathered at the University of Illinois at Chicago Medical Center.
"The doctors' research isn't really relevant to my life," Grossman says. But the scientists do have two things she needs: information the patients can pass on to their doctors at home and money. Grossman put together the Bloom's Connect conference on a $4,500 budget, most of it raised from registration fees. But if Bloom's Connect does not find financial support soon, it will die.
Jason Hesch, 26, had never met another Bloomie, but now on this blustery Tuesday morning after Memorial Day, he's about to meet six of them. Hesch is nervous. He doesn't know what to expect. He's dressed formally in a suit and tie, and sits at a folding table with Sheryl Grossman, Stacey Dentz and Melissa LaCouvee of Ontario.
The conversation progresses haltingly, and when things turn silent, they glance across the room at their parents and siblings who are introducing themselves.
For the parents, the meeting is more emotional. It is like a reunion of a family whose members have been separated far too long. Looking over at the adult Bloomies, Sandra Mysler, whose twelve-year-old son with Bloom's stayed home in Argentina, is too overwhelmed to speak.
Anne-Marie van den Hurk, from the Netherlands, begins to cry. "I just want to bring up a normal child," she says, wiping her eyes.
"It means so much to them to see an adult with this condition," Grossman will say later. "Bloom's syndrome is not a death sentence. We can live well while accepting our limitations and dealing with them." LaCouvee, eighteen, cannot stop staring at Grossman, Dentz and Hesch. She looks delighted. "She's had a hard year," LaCouvee's mother, Linda, tells the other parents. "She has no friends."
As in other families, the Bloomies' parents compare the growth and medical problems of their children and marvel at the strong physical resemblances between them. "Melissa looks just like Sheryl did ten years ago," Karen Grossman exclaims, "the spitting image."
The adult Bloomies appear embarrassed to hear the personal details of their lives discussed so frankly by their parents. "Sheryl had a lot of trouble getting her mammogram," Karen Grossman announces to the group at large. "Do you want to tell the story, honey?" Sheryl waves her hand wearily. "No, Mom, go ahead."
The three Bloom's children have been spared the awkwardness of discussing how they feel about meeting other people who look like them. Instead, Lindsay Zaslaw, three, of Hanover, New Hampshire, and Agnes Knol, five, and Toon van den Hurk, eight, both of the Netherlands, have gone off to another room with their brothers and sisters to color and watch Asterix DVDs.
"The kids are astounded to see all the little people," reports Agnes' mother, Beatrix, during a coffee break. "When our kids saw Lindsay, they went ahhhh, because Agnes is so normal for them."
Alex Turtletaub's mother, Diane, flew from New Mexico to talk about her experiences raising an afflicted child. "I feel like Alex is here with me today," she begins during a panel discussion. "Alex played soccer before his arthritis got too bad. He was running around the field with boys twice his size. I was terrified he would get hurt. I think we do have a tendency to baby our Bloom's kids because they're small.
"My daughter accused me of babying Alex when he was 30. Mothers want to make sure everything is perfect for their children. We wanted to let him know he was loved and respected for who he was, as much as any other child."
"It's hard," says Dana Hesch, Jason's 21-year-old sister. "Last year I helped him move into his apartment. I was in charge of buying furniture and building it, since it was harder for him. He had the box from IKEA with his dresser in a cart and was trying to push it, and the whole thing tipped over. I got so frustrated. I wanted to say, 'If you weren't like this, we wouldn't be doing this.' I wanted to help. But it was hard. It sucks. But I have to stop wanting what I can't have. I have to continue to give him a hard time as his sister."
Hesch, overhearing that last sentence, playfully flips her the bird. "There's one advantage of having Bloom's syndrome," says Hesch, who hopes for a career in politics. "No one ever forgets me."
"Hey Jason," Dana asks, "if you had a choice between being you or being me, who would you want to be?" Hesch doesn't hesitate: "I'd be me."
Sheryl Grossman leans her head against the back seat of the taxi and closes her eyes. Its been a long two days. "Miss," the driver says, "you need to tell me where you're going."
Grossman opens her eyes and looks dazed. Less than an hour before, she addressed a group of scientists at the medical conference about what Bloom's Connect is trying to accomplish. The medical community understands Bloom's syndrome on a molecular level, but Grossman worries that they can't truly comprehend what it's like to live with the disease.
"The scientists have the money, the power, the clout, that we don't have," she says. "It's important for the scientists to learn from us what we need in our lives. We can give them faces and names and real-life experiences."
The influence of Bloom's syndrome extends beyond its tiny population of sufferers. Says Richard Gladstein, a Hollywood producer and founder of the Bloom's Syndrome Foundation: "It's characteristic of people with Bloom's syndrome that they get what everyone else gets, but they get it sooner."
Dr. James German, a professor of pediatrics at Cornell University, has been studying Bloom's for nearly 50 years. He was the first to realize that Bloom's is a genetic — rather than dermatological — disease. During cell division, the Bloom's gene, located on the fifteenth chromosome, causes a patient's DNA to reproduce genetic gibberish instead of an exact copy. The chromosome becomes unstable, and pieces of it break off.
This tendency toward mutation, German discovered, makes Bloom's patients particularly susceptible to cancer. What remains a puzzle is why Bloomies are so small. Their cells are normal-sized, but they have fewer of them.
In 1960 Dr. German established the Bloom's Syndrome Registry which has tracked 264 patients throughout their lifetimes. Recently renamed the Bloom's Syndrome Study Population, it remains the most complete source of information about the effects of the disease. But because of confidentiality concerns, German will not release the names of patients in the registry, even the ones who ask for their names to be made public.
German, meanwhile, is dismissive of Grossman and Bloom's Connect. "She's passing herself off as some sort of expert," he said by telephone from his New York office a week before the conferences.
Though German has become close to some Bloom's patients, including Stacey Dentz, he knows that others believe he is more interested in them as research subjects than as human beings. "Some people complain that all the registry is doing is wanting blood," he says. "Well, that's true. We want to know about the condition."
Grossman had hoped the other doctors at the medical conference would be more receptive. "Our mission is to fill the gaps in your research," she told them. She relayed the Bloom's Connect group's request for more information to share with their doctors at home and asked for more financial support.
Afterward, several researchers, including the conference chair Dr. Vilhelm Bohr, gave her business cards and invited her to call them to discuss further collaboration between the scientists and Bloom's Connect.
Despite her exhaustion, Grossman is elated. "I think this is the beginning of a fruitful discussion," she says. "Dr. Bohr said he would be in touch. I want this to work. If he doesn't follow up, I will."
On her way back to University of Illinois at Chicago to say goodbye to attendees at the Bloom's Connect conference, Grossman reflects on the progress they have made. The families have already exchanged addresses and promised to keep in touch. Jerry Hesch, Jason's father and a Miami lawyer, has volunteered to help her incorporate Bloom's Connect as a nonprofit charity.
For Grossman, the biggest surprise of the conference was the reaction of her own mother. Karen Grossman had never before been very involved in Bloom's Connect, but during this conference, she became Grossman's main source of support.
"I want to thank Sheryl for putting this together," she tells the Bloom's Connect group. "This has been amazing for her and amazing for me watching her." For the first time, Sheryl grows teary.
"I've never heard her sound so proud of me before," Grossman later reflects. "I'm really surprised she talked so much here. It's like it had all been bottled up for years."
Back in St. Louis, Grossman sips a hot chocolate at the Starbucks in the Delmar Loop and tries to sum up what the Chicago conference meant to her. "It's hard to put into words," she says. "Ever since I was fourteen, I thought I'd never meet someone like me. And now I just met thirteen families at the same time. I'm in my thirties. I'm getting up there. I want to leave something positive. I didn't have much support when I was growing up. Now things have changed forever for people with Bloom's and their families because of this."