On Rare Leap Day, Remember Rare Diseases

Feb. 29, 2012 — -- When Deborah Sittig noticed her son was not making the typical baby milestones like sitting up, walking and crawling at the usual ages, she knew something was wrong.

At 18 months, Baby Cannon was diagnosed with hypophosphatasia, a rare bone condition that causes a softening of the bones. The condition varies in severity, but can be fatal.

"I feverishly started researching and saw that if a child is diagnosed with the condition, he only has about a 50 percent chance of survival," said Sittig of Mountain Lakes, N.J. "I was afraid to touch him, change his diaper, give him a bath. That's when I started to reach out to others for support."

Sittig, who founded the organization Soft Bones, a non-profit group dedicated to educating and empowering people affected by hypophosphatasia, said online forums and connecting with others affected by the same condition has allowed her to feel a sense of community around a rare disease that most family, friends and even doctors knew nothing about.

"Talking with other people who were affected by the disease immediately provided reassurance," said Sittig. "People all around the world have this disease, and some are sitting in the dark because they don't know where to turn. But every day, more and more people are coming out of the woodwork to share their stories."

On Feb. 29, a rare day indeed, it is only fitting to encourage others to speak up and raise awareness about rare health problems. This year, leap day is also Rare Disease Day, an annual, awareness-driven international event to alert people of the more than 7,000 rare diseases throughout the world that affect about 30 million Americans.

Rare disease patient organizations and their partners are joining forces to promote awareness about rare diseases with the motto, "Rare but strong together."

Any disease affecting fewer than 200,000 Americans is considered rare, according to the National Organization on Rare Disorders.

"One of the most serious problems that people with a rare disease have is that there is too little or no research being done," Mary Dunkle, a spokeswoman for NORD, told ABCNews.com last year. "If you get the word out there, you never know where it's going to lead, whether it will lead to a new treatment or a cure."

The Internet has become a particularly vital tool for those affected by rare disease. While some people may not have ever met another person who suffers from the same rare condition, online forums and advocacy websites allow for people from all over the world to connect.

"I don't know what people with rare diseases did before the Internet," said Phyllis Talbot, whose 5-year-old son, Hyde, was diagnosed with a very rare clotting disorder known as Atypical HUS. "At least now you have a shot at finding other people. I can't tell you how great it is to talk the same medical language about this illness with someone else who gets it."

Talbot said she'd begin telling people about Hyde's condition, but most people's eyes would glaze over after hearing the medical lingo and research that has become second nature for her to discuss.

"It's so nice to talk to another mom whose son has the same condition, to talk about day-to-day problems, the nuts and bolts of treatment, lab results," she said.

For those who have a child with a rare disease, Talbot recommended always having a pen and paper in hand at doctor's visits.

"Write down names, tests [and] have the doctors spell out those long medical words," said Talbot, of Cumming, Ga. "Your brain is not all there at the moment, but you can look back on your notes and research things later. That way, you're being your child's biggest advocate."

For Danielle Leach, director of partnerships at Inspire.com, a health and wellness social network that covers a wide range of health conditions and diseases, it is those connections that make her job so worthwhile, she said. At Inspire, many rare disease patients and family members find, for the first time, other people who are affected by the same conditions.

"It's very difficult when you have a child with a critical condition because it's a very alienating experience," said Leach. "You're literally living other people's worst nightmare, so it's sometimes hard to talk to a best friend who has a healthy kid."

"It's such an important tool to talk about the real, ugly side and the raw emotion that comes along with having a kid with a critical condition," she added. "It's such a huge leap when someone finds that first connection with someone else sharing their experience."