MNN - Mother Nature Network

Sheryl Grossman saunters into the Blue Moose Cafe in Morgantown, W.Va., amid the crowd of regulars. She walks past a yellow "moose crossing" sign and up to the cashier, ordering her usual: a hot chocolate in a disposable cup, with a straw.

 

Today is no different from yesterday. Today she hopes to blend in, but knows she will not. Today, like yesterday, she can't help but stand out. At 4 feet 3 inches, she's often confused for a little kid. And at 46 pounds, she has the weight of a typical 5-year-old. Yet she's 36, with a master's degree from Washington University.

 

The barista, perhaps taken aback by her elfin appearance, returns twice to ask what she ordered.

 

For Grossman, today is just another day living life as a poster child for one of the rarest diseases on Earth. Historical estimates put the number of people ever recorded to have this disease at fewer than 400. Most of them die before the age of 50. Grossman knows of only three people who have it and are older than she is. But she brushes it off. Statistics lie and, besides, she's never been one for numbers.

 

Today, like yesterday and the day before, she is treated differently from everyone else. She feels people staring at her. But at this point in her life, she has more important things to worry about. She's had cancer five times. Today, like yesterday, she has one simple goal: to live to become the oldest person ever with Bloom's Syndrome.

 

***

 

New York dermatologist David Bloom was the first to describe the disease back in 1954. He found a genetic hiccup that causes short stature, immune system deficiencies leading to respiratory and bronchial infections, patchy skin discolorations, diabetes, sterility, and — perhaps in a cruel cosmic case of adding insult to injury — an extraordinarily high risk of developing cancer.

 

According to 2009 data from the Bloom's Syndrome Registry at Cornell University, there are currently just 265 known cases in the world.

 

Grossman's parents waited until she was 14 to tell her about her Bloom's diagnosis. "In retrospect, that was not a good time to tell me," she admits. "I was a rebellious teen who was already angry with the world."

 

Perhaps not surprisingly, Grossman was taunted in high school. She remembers being thrown in the trash can and tossed over a volleyball net. And yet, somehow, she enjoyed school. Hey, she thought, at least the cool kids were paying attention to her. "I loved the illusion that was I with the 'in' crowd," she recalls. Listing the humiliations she suffered, she adds with a smile: "Yes, you can bench press me."

 

But in college, with the help of an inspirational professor, she reframed her life's mission. She channeled her snarky attitude and boundless energy into something more productive — she wanted to be a positive force and stand up for the rights of the disabled. She received a master's in social work. She started looking into advocacy work and never turned back. "I no longer wanted to wallow in self pity." She once felt she had a death sentence, but now she felt born again.

 

This newfound sense of purpose led her to find more people like her, more people belonging to the exclusive club of people with Bloom's. Of the first one she met: "It was a weird experience, like finding a twin you never knew you had."

 

But meeting just one of her fellow Bloomies (as she calls them) was not enough. She wanted to find all of them. So through dint of hard work, she founded Blooms Connect, an organization that has become the go-to international source for all things related to this rare disease. In between stays at hospitals to treat her worsening medical condition, Grossman hops around the country speaking about the disease that is robbing her of life. "My mouth is my largest organ," she wryly notes, "and I'm never afraid to use it."

 

In 2005, she organized a first-of-its-kind Bloom's conference in Chicago for affected individuals, as well as their family and friends. Five countries and four different languages were represented at the two-day event.

 

Most doctors have never treated anyone with Bloom's and Grossman finds it her duty to educate them about the inner workings of the disease. "I don't want to die with this knowledge. I want future generations to benefit from this. I need to do what I can do so that they have chances that I never had."

 

Despite a full-time job during the week as a workplace disability advocate for a national nonprofit and a part-time job on weekends as a religious school teacher, she manages to cobble another 15 hours a week to work on Bloom's Connect — often staying up late on the phone helping families of Bloom's patients. She's raising funds for her organization, educating doctors, and is now attempting to launch a monthly webcast for Bloomies to connect with each other.

 

"I value my life. I try to better it everyday. I do more than just survive — I live," she says, her bony hands nursing the cup of hot chocolate as it eases the pain from her hypersensitivity to cold. It's nearly 90 degrees outside, so the cafe's air conditioning forces her to cover exposed skin (she's accustomed to wearing sweaters). Without missing a beat, she instinctively props herself up on her tote bag to better reach the table. Life could be more manageable — she's eligible for a service animal, but in an odd twist of fate is allergic to dogs.

 

"I don't want to waste my days," she says. To that end, she doesn't have a TV. She spends spare time in her backyard garden, a zen escape from the beeping cacophony of hospital-room noises she's so used to.

 

As the crowd at the Blue Moose grows thinner, Grossman reveals that it's tough living in West Virginia. For her, time is short. She's looking to meet a nice guy and get married. And even, through the miracle of science, have children. A labyrinth of paperwork and bureaucracy has stalled the process for months — time Grossman simply doesn't have. "It bothers the heck out of me."

 

Plus, she feels the pollution from nearby drilling activities doesn't help with her persistent lung issues. When talking to Grossman, her trademark hacking cough — which sounds like she constantly has the flu — is ever-present. Among the litany of doctors she frequents, she now adds a physical therapist to help her cope with her breathing problems.

 

"I try to live my life in two ways. I have to make the most of today because I don't know how many todays I have left." She pauses, only for a moment, and then adds: "I also have to plan for the future. I can't party today and have no money tomorrow. I plan on being the longest-living person with Bloom's."

 

And that is how Sheryl Grossman functions, how she puts one foot in front of the other. How she wakes up and fights a disease that is constantly at war with her body. When death comes knocking — again and again — she simply opens up the door and says, "Sorry, I'm busy. Not today."

 

She hops into her car, a 2006 Toyota Scion. You'd think it would be tricked out with special features to deal with her disabilities. Instead, there's a pile of old pillows on the driver's seat that lets her see over the steering wheel. She's off to Silver Spring, Md., to stay at a friend's place. She'll wake up and drive to Baltimore for yet another consultation with a doctor at Johns Hopkins. The next day, she'll drive back to West Virginia, back to work at a nonprofit across the street from the Blue Moose Cafe.

 

And live for another day.

 

 

Related story on MNN: Rare condition explains why some people don't have fingerprints