Acclaimed Rare Disease Center Calls Danbury Home

By Dottie Evans

Immediate help is available for people suffering from rare diseases and residents will not need to travel far to find it.

The National Organization for Rare Disorders (NORD) has its world headquarters and disease data bank right here in greater Danbury. Most people who drive by the attractive, one-story office building tucked behind Toys R Us at 55 Kenosia Avenue probably do not know about the life-saving activities going on inside, but that fact is not critical to its mission.

“We are a safety net. We want to help people –– patients, families, even doctors who are struggling with a difficult diagnosis –– by providing information about rare diseases,” said Mary Dunkle, NORD vice president for communications.

Among its many functions, NORD operates a call center where families can find help or contact local support groups and government agencies. It also runs a Medication Assistance Program to help people whose incomes are too high for Medicaid but are having trouble obtaining medication.

“We have a nurse on staff and we can help administer drugs for some diseases,” she said.

While NORD does not diagnose or give medical referrals, it will direct individuals to appropriate organizations or groups who can.

“People contact us from around the world through email, by phone, or through our website and we try never to turn people away empty-handed,” Ms Dunkle said.

“We get 90,000 visits a month to our website. Every day is a surprise. You never know what phone calls you’ll get.”

A Wide Database And Funds For Research

There are more than 6,000 rare diseases that affect fewer than 200,000 Americans, and NORD maintains a database on nearly 1,120 of the most obscure maladies.

While many have heard of hemophilia or cystic fibrosis, such disorders as tinnitus, cleft lip, diverticulitis, cholera or acromegaly remain a mystery to most. Extremely rare diseases such as Landau Kleffner Syndrome or tyrosinemia or spina bifida may affect only a few hundred people.

“It takes months or even years to get a diagnosis of a rare disease. Back in the old days, patients were totally alone and could only go to their family doctors for advice,” Ms Dunkle said.

It is true, she added, that the “better-known” rare diseases, such as AIDS or autism, have their own advocacy groups. NORD tries to address the more unusual diseases that do not have their own organizations of support.

 “We also try to inform physicians by publishing pamphlets and informational material about symptoms and treatments,” Ms Dunkle said.

To provide an authoritative guide to rare diseases, the charitable organization recently compiled an impressive 900-page hardcover book titled, NORD Guide To Rare Diseases, published by Lippincott Williams and Wilkins.

The book is available for $89.98 through Amazon.com and Barnes & Noble, and it includes contributions by hundreds of physicians and medical experts.

“They all wrote for free because they had a passion to help,” Ms Dunkle said.

In addition to being a clearinghouse for information, NORD is the administrating organization for an extensive network of research programs in cooperation with The National Institutes of Health (NIH). The projects are governed by a medical advisory committee located at the State University of New York (SUNY) in Stonybrook.

“People often donate money to NORD for research earmarked for specific diseases. When the amount reaches $35,000, we advertise in medical journals and issue proposals. The SUNY committee then decides what gets funded,” Mrs Dunkle explained.

The research arm of NORD gives people “a place to go beyond bake sales,” she said.

 It is a way for groups –– or even whole towns, where a resident has suffered from one of the rare diseases –– to raise a substantial amount of money in someone’s name and see real, potentially life-saving results from their efforts.

“We depend upon the kindness of others,” Ms Dunkle explained.

NORD is a private, charitable organization with a yearly budget of approximately $4 million. It is affiliated with more than 125 voluntary health organizations and was named one of the Top 100 Charities in 2002 by Worth magazine.

Modest Beginnings, 20 Years Ago

Today, NORD is the nation’s largest charity dedicated to helping people with diseases that affect fewer than 200,000 Americans. But 20 years ago, it was only a dream in the imagination of one individual, a New Fairfield graphic artist and housewife named Abbey Meyers.

Ms Meyers’ child was suffering from Tourette’s syndrome, and when the pharmaceutical company that had been producing an experimental drug the child needed ceased production for cost reasons, she was determined to do something about it.

She formed a coalition with other parents whose children had been taking the discontinued drug, called pimozide, and the group decided to take its cause all the way to Washington, D.C.

By a lucky twist of fate, the timing was perfect.

Representative Henry Waxman (D-Calif.) had been working to pass the Orphan Drug Act of 1983 insuring that pharmaceutical companies could not discontinue a drug just because it was unprofitable. The simultaneous arrival on the legislative scene of Ms Meyers and her group of advocates for victims of these practices was fortuitous, to say the least.

“It struck a nerve. The Orphan Drug Act was adopted in 1983 and was one of the most successful pieces of legislation ever to pass,” said Mrs Dunkle.

 It resulted in ten new treatments for rare diseases and 240 new medications that were immediately approved by the FDA for marketing, with a total of 1,100 more medications being designated for further study.

From this auspicious beginning, NORD was born, and Ms Meyers began expanding its mission to include many rare disorders, most of which were genetic in origin.

Her original staff of four based in New Fairfield became an organization of 31 people working out of today’s spacious, newly refurbished, 10,000-square-foot facility in Danbury.

Through two decades, Ms Meyer has been a driving force and inspiration to fellow-workers, and despite the worldwide reach of the organization, Ms Meyers still finds it somewhat amusing that NORD is virtually invisible on the local scene.

“Last weekend I was down in Washington, D.C., and everyone knew who we were. But here in Danbury … nobody knows us,” Ms Meyer said during an interview March 17.

She was busy taking last minute phone calls and organizing her desk before leaving for Japan the next day to speak at a worldwide health conference.

SARS (Severe Acute Respiratory Syndrome) the flulike virus out of Hong Kong, China, had just come upon the scene and Ms Meyers was concerned that she would be on the airplane for 15 hours in proximity to other travelers.

Not a good situation, she said, given its extremely contagious nature.

“People are always asking us to make presentations,” Ms Meyers commented.

She would go because she had to, for the same reasons that first motivated her 20 years ago. One more rare disease was not going to stop her.

The National Organization for Rare Disorders, Inc. (NORD) is at 55 Kenosia Avenue, Danbury, CT, 06813-1968. Telephone: 203-744-0100; Toll free: 800-999-NORD;

website: www.rarediseases.org; email: orphan@rarediseases.org.