Since 2000, the number of rare diseases in the United States has increased from 5,000 to 7,000. The number of Americans affected has risen from 20 million to 30 million. And many of those Americans desperately seek resources or information about treatments and clinical trials. In many cases, their search leads them to the National Organization for Rare Disorders (NORD), a nonprofit that provides support, education, and research funding, and does advocacy work on behalf of people with rare disorders.
The organization was established in 1983 on the heels of the Orphan Drug Act, a bill that created financial incentives for developing treatments for rare diseases, says Mary Dunkle, NORD's vice president of educational initiatives. "With the bill's passage, we saw a need for an umbrella organization to address ongoing challenges faced by the community. We thought that we could speak with a louder voice if all our groups worked together."
Since then, NORD has added 230 member organizations representing thousands of rare disorders, including neurologic diseases like amyotrophic lateral sclerosis, cluster headaches, fragile X syndrome, Prader-Willi syndrome, Huntington's disease, narcolepsy, myasthenia gravis, tuberous sclerosis, muscular dystrophy, and Sturge-Weber syndrome.
Rare Discoveries
Researchers and physicians continue to discover new disorders, sometimes because conditions thought to be one disease turn out to be several different but related diseases, says Dunkle. In addition, the Undiagnosed Diseases Program (UDP), which was established in 2008 by the National Human Genome Research Institute, the National Institutes of Health (NIH) Office of Rare Diseases Research, and the NIH Clinical Center to help diagnose people with unknown disorders, has discovered some new conditions. People apply to have their cases considered by the UDP. If accepted, they undergo a week of diagnostic tests and free consultations from relevant specialists and are followed up for several months. The UDP's goal is to provide a diagnosis and recommend therapies.
Resources for Patients and Families
One of the biggest ongoing challenges for people with rare disorders is getting a timely and accurate diagnosis, says Dunkle. "Many rare diseases affect multiple organs, and most are serious enough to impact or shorten the lives of those affected. But they are not readily recognizable and often are masked because they look like other diseases," she says. To help patients in their quest for a diagnosis, NORD can connect them with doctors or help them enroll in clinical trials. The nonprofit organization also can answer questions about genetic counseling, newborn screening, support groups, and financial and legal matters. It also includes a forum for people who want to share their stories.
Ramp up the Research
In 2012, Congress passed the US Food and Drug Administration (FDA) Safety and Innovation Act, which had provisions for expanding the FDA's rare disease research program, says Dunkle. One example is the "breakthrough therapy" designation. This allows the FDA to expedite the development and review of new drugs with enough clinical evidence to suggest they are superior to existing therapies for patients with serious or life-threatening diseases. "Another example were the public hearings hosted by the FDA that allowed patients to speak about their conditions," says Dunkle.
Spread the Word
To raise awareness of rare diseases, NORD encourages patients to become advocates, either by joining the Rare Action Network, forming a local coalition, or participating in an event like the annual Portraits of Courage Celebration in Washington, DC, in May. To educate the general public, Dunkle encourages people to use social media to share their stories. "Like the ALS Ice Bucket Challenge did, social media helps people connect to the person behind the disease."
