Finding Someone Like Me

Understanding and Coping With the Challenges of Rare Diseases

Rare DiseasesIn 1994 — after six years of misdiagnoses — Debra Richardson finally had a name for her condition: stiff person syndrome (SPS), a rare neurological disorder with features of an autoimmune disease. Yet, her diagnosis triggered more questions, including where to find resources, information and patient support.

Richardson isn't alone in these challenges. The U.S. Food and Drug Administration defines a rare disease as one that affects fewer than 200,000 Americans at any given time. According to the National Institutes of Health (NIH), there are between 6,000 and 7,000 rare diseases affecting 25 to 30 million Americans.

Some conditions that many think of as common are statistically considered rare by NIH — for instance, cerebral palsy or carpal tunnel syndrome — and resources for these types of rare diseases are plentiful. But some conditions listed with NIH are so rare that resources aren’t readily available.

Mobility Challenges of Rare Diseases

One of the biggest challenges for people with rare diseases is mobility.

“Many rare conditions do impact mobility, either because the person is very weak or in pain, and there’s no treatment for the disease yet,” says Stefanie Putkowski, a clinical information specialist and research program administrator for the National Organization for Rare Disorders (NORD). “Many with rare conditions do have impacted mobility, either severely or moderately.”

Richardson knows all too well about mobility issues.

The National Institute of Neurological Disorders and Stroke says that SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch and emotional distress, which can set off muscle spasms. People with SPS often have abnormal postures, such as being hunched over and stiff, and can lose the ability to walk or move. Sometimes people with SPS are afraid to leave home because street noises, such as the sound of a horn, can trigger spasms and falls.

These symptoms are all true for Richardson. She says she is predisposed to falling and describes one of her triggers as scrutiny from others.

“When I’m in public, I don’t want to have to explain my illness because it creates angst, and angst can create symptoms for me,” she says.

Richardson plans most of her errands for when her medication’s effectiveness is at its peak. She parks near shopping carts and uses them for balance at the store, and often uses a hiking pole, a computer case on four wheels or a wheeled backpack to help move from one piece of equipment to another when she’s feeling well enough to visit the gym. Sometimes she tells people that she has balance issues or is feeling wobbly when she asks to be escorted across a street or to her car. She also bought an umbrella stroller to walk with in the mall under the guise of carrying her belongings if someone asks why there’s no baby in her stroller.

“It gives me security, something to hold on to without the label of being disabled,” she says. “It’s hard for anybody to lose your independence and have that disabled label to where you need gait aids. People do react…and you’re immediately in a court of public opinion regardless of what your disability is.”

Finding Someone Who Understands

Despite the many challenges of trying to cope with the disease itself, often the biggest challenge for people with rare diseases is finding a human connection.

“Not only is there no specific treatment for the disorder — so there is no way of getting better — but other people don’t know what the disorder is and don’t understand it,” Putkowski says. “And because of that, they have more insurance challenges. Friends who might be caregivers are afraid to help… because they are afraid of doing harm. People don’t understand how they can help, and sometimes people even think it’s contagious.”

When Richardson was diagnosed, she wanted to meet someone else with SPS.

“That was before every home had a computer. There was nobody I could talk to,” she says. “I wanted information. All I had was a few article columns and some archaic medical journals. I wanted encouragement.”

After 10 years of frustration, Richardson took a class to learn html coding and started her first Web site. She now operates a Web site called Living With Stiff Person Syndrome, which includes a four-year journal of her thoughts, peer-reviewed articles and information that people can take to their doctor.

“Within a couple years, it had a million hits, and it has been viewed worldwide,” Richardson says.

To date, Richardson has met 21 other people with SPS.

Reaching Out for Support

Richardson’s story of reaching out to others with the same rare condition isn’t uncommon. Putkowski says many people have done something similar.

For example, Putkowski remembers a husband and wife who started an organization to raise money for research after their daughter became ill.

“She had an autoimmune disorder that barely anyone has heard of,” Putkowski says. “There was minimal research being done, if at all. He and his wife and his brother and his father have raised, in the last three years, almost $300,000 in research funds by doing golf outings and hosting all kinds of fundraisers.”

For disorders for which no patient groups or organizations exist, Putkowski suggests visiting online communities such as Inspire. The sites are often free to register.

“One of the worst things for people with rare disorders is isolation,” Putkowski says. “It’s a sense that no one knows what you’re going through, and no one understands. That’s why it’s so important to find some kind of support with an organization or an online community.”

Tips for Registering in Online Communities

Although some online communities, such as Inspire, are free to register, be sure to ask these questions to protect yourself:

  • Does the site have a Contact Us section?
  • Are rules posted?
  • Is the site well moderated?
  • Are there privacy rules?
  • Does the site ask for personal information, such as a Social Security number or home address? (You should never provide your Social Security number on these sites.)

About the Author

Cindy Horbrook is the associate editor for HME Business, Mobility Management, and Respiratory & Sleep Management magazines.