Social media a godsend for those with rare diseases

CHICAGO -- Deb McGarry had just delivered the eulogy at her grandmother's funeral when pain shot through her chest. A wave of nausea followed.

"Something is wrong," McGarry whispered to her husband as an arm went numb and the lump in her throat turned to panic.

McGarry, a mother of two from Naperville, Ill., suffered a heart attack a few hours later in an emergency room. She was diagnosed with a rare coronary condition that can affect otherwise healthy young women and is often fatal.

Stricken in January 2011, McGarry left the hospital after five days feeling isolated and confused. Finding information about the ailment -- "spontaneous coronary artery dissection," or SCAD -- was difficult and doctors were unable to help, she said.

McGarry eventually discovered a thriving online community that provided details about her condition and, more important, encouragement. With a few clicks of a mouse, she was able to plug into a wealth of information and support.

Patient-driven revolution

From places as far away as New Zealand, Australia and the United Kingdom, these survivors are part of patient-driven revolution in the world of rare diseases who mobilize through social networks, experts say.

"With rare diseases, you can't walk in to your doctor's office and find the support and information you need," said McGarry, 39. "...It's absolutely amazing to be able to get on your computer and find people who are experiencing the same thing as you."

Experts caution that the Internet is a double-edged sword. Although people find support, they also can be scammed and seduced into believing information that isn't true -- especially on sites that aren't sponsored by hospitals or a medical institution.

Thanks to efforts by McGarry and the on-line network of SCAD survivors, doctors at the Mayo Clinic in Rochester, Minn., have launched the first large-scale research project to learn more about the disease.

The study is breaking new ground by using social media to recruit SCAD patients from around the world, doctors say. The plan is to input each individual's medical history into a database in hopes of identifying patterns.

The Mayo Clinic also will create a bio-bank of blood samples from patients with SCAD, along with samples from their parents and children.

The hope is that it may lead to answers about the role genetics plays in the disease, said Dr. Sharonne Hayes, director of Mayo Clinic Women's Heart Clinic.

The methods used could have applications for many other rare diseases, she said.

"This goes far beyond SCAD," Hayes said.

Spontaneous coronary artery dissection begins with an unexplained tear inside the artery wall. The loose tissue folds over, blocking blood flow and leading to clots, arterial blockage and often a heart attack.

According to Mayo Clinic doctors, little research has been done on the disease, which has no cure or standard treatment. So far, doctors can't say with much certainty what causes the condition, whether it is likely to recur or if it can be passed along genetically.

For many, not knowing such crucial details can be as debilitating as the physical symptoms, patients said.

In McGarry's case, when she arrived at the emergency room almost two years ago, doctors could find nothing wrong with her, she said. But an hour later, surrounded by friends and family, McGarry suffered a heart attack. Doctors implanted two stents to open up the artery, then sent her home several days later with more questions than answers, she said.

"I was freaking out; I immediately got online," said McGarry, recalling the anxiety she felt as she entered the search terms into a web browser for the first time.

According to the National Institutes of Health, a rare disease is one that affects fewer than 200,000.

The institute tracks roughly 7,000 diseases considered rare and coordinates and supports research, according to the NIH website.

A 2011 study by the Pew Internet and American Life Project found that one in five Americans uses the Internet to find people with similar health concerns.

"We have this ancient instinct to find other people who share our same problems so we can solve them together," said the project's associate director, Susannah Fox. With the Internet "it's faster and easier, but it's that same old wish."

Lonely battle

For patients and those who care for them, social networks can offer solace from what can be a lonely battle for survival, Fox said.

At the same time, patients who organize themselves in cyberspace can offer new opportunities for researchers.

"The real magic happens when someone with a great idea is able to connect with one of these patient groups who stand ready and willing to help," Fox said.

In the Information Age, the consumer adage, "buyer beware," still applies.

"It's really patient beware," said Stefanie Putkowski, a nurse with the National Organization of Rare Diseases, or NORD.

Nearly 30 million Americans suffer from rare diseases, according to NORD, a nonprofit group that aims to help patients and their caregivers through education, research and other services.

Putkowski polices the many online organizations and message boards the organization sponsors under the name "NORD Nurse."

Although she believes the web is a key ingredient in medical innovation and treating a myriad of rare diseases, the Internet can also be a dangerous place where misinformation prevails and scammers prey on the vulnerable, she said.

"If you are desperate and not savvy, you can spend your money and waste it, and you can get hurt," said Putkowski. "But if it's a good organization, it can be a lifesaver. Short of getting a treatment or a cure, at least you are not alone."

Distributed by McClatchy Tribune.