Patient Advocates Tell of Struggles in Getting Drugs Developed for Rare Diseases

Rare Disease Associations Perform Own Research, Patient Recruitment, Clinical Trials

HORSHAM, Pa., Oct. 18, 2012 /PRNewswire/ -- A panel of parents who became patient advocates after their children were diagnosed with rare diseases will discuss their struggles and successes in navigating the drug development process on Monday at a Washington, D.C., conference sponsored by DIA and the National Organization for Rare Disorders (NORD).    

The work carried out by these parents through rare disease associations can be one of the most important factors in getting lifesaving help for their children. For many parents, the news that their child has a rare disease has changed the course of their lives, including their leaving other careers to work full time to advance the development of therapies to treat severe illnesses that may affect as few as 500 people in the United States. Five of these parents and one patient will speak at the 2012 U.S. Conference on Rare Diseases and Orphan Products.

"People are going along living their lives and then learn their child has a rare disease. These parents are diving into a world unknown to them to navigate the complicated path to find a treatment," said Peter L. Saltonstall, NORD president and CEO. "We see it over and over again. The result can be critical funding and advocacy for groundbreaking research."

Patient advocate Ron Bartek lost his son, Keith, to Friedreich's ataxia, a genetic disease that affects the heart and muscles. There is no treatment for the disease. Bartek and his wife, Raychel, founded the Friedreich's Ataxia Research Alliance, working tirelessly to raise money for research and clinical trials to advance the likelihood of developing an effective treatment.

Bartek said pharmaceutical companies showed no interest in developing a drug for the disease because it is so rare. Fourteen years later, he is confident that clinical trials under way will result in the first treatment for the disease—thanks to the money the alliance raised for research and clinical trials.

"They got interested because we did all of that," said Bartek. "It's almost purely a financial decision. Whether a treatment gets developed often depends on the ability of patients or their advocates to get the process started."

Pharmaceutical companies traditionally have turned their attention to developing therapies for diseases that affect larger patient populations. Because the drug development process is very expensive, time-consuming and challenging, companies have had few incentives to commit the resources to develop therapies that affect very small numbers of patients. However, data show a recent renewed interest by pharmaceutical and biotech companies in the development of rare disease therapies. 

Other panelists include:

  • Christy Greeley, executive director of the Cystinosis Research Network and advocate for her son, Jack, age 12. Greeley's son has cystinosis, a genetic metabolic disease that causes the amino acid cystine to accumulate in various organs of the body. Greeley's organization worked with the National Institutes of Health, the U.S. Food and Drug Administration, and industry in the research and development of eye drops that help dissolve the cystine crystals of that can accumulate in patients' eyes.
  • Megan O'Boyle, chairwoman of the Registry & Repository Committee and board member of the Phelan-McDermid Syndrome Foundation and advocate for her daughter, Shannon, age 12. O'Boyle's daughter has Phelan-McDermid syndrome, a syndrome with symptoms associated with autism. There is no treatment for the condition itself, but treatments for its symptoms include medicine to help Shannon sleep, a drug to control seizures and medicine for reflux. The foundation has singlehandedly launched a registry and a biosample repository to provide important data to researchers.
  • Jeff Wuchich, president of the Alternating Hemiplegia of Childhood Foundation and advocate for his son, Matthew, 5. Wuchich's son has alternating hemiplegia, which causes temporary paralysis, severe learning disabilities, movement and behavior problems and seizures. Wuchich helped the association win nearly $300,000 in grants through grass-roots voting contests. The only treatment for alternating hemiplegia is unavailable in the United States. The organization played a key role in supporting research that very recently led to the identification of a gene associated with this disease.
  • Mirta Avila Santos, executive director of the American Behcet's Disease Association, and patient Sandy McElgunn, president of the American Behcet's Disease Association. Since her youth, McElgunn has had Behcet's disease, a form of vasculitis, which manifests with ocular, oral, genital and skin lesions as well as arthritis and multiple organ involvement. Her story inspired Santos to join the association, which has established partnerships with academia to embark on the first biomarker study for the disease, currently under way involving 92 patients. McElgunn runs a 24-hour patient support hotline out of her home.


Panel discussion for members of the media featuring advocates for rare disease patients at the U.S. Conference on Rare Diseases and Orphan Products


Monday, Oct. 22, 2012, 9:30 a.m.


Capital Hilton Hotel

1001 16th St. NW

Washington, DC 20036

Room South American AB


Visit to learn more about the conference and register.

ABOUT DIA: DIA is a neutral, global, professional and member-driven association of nearly 18,000 professionals involved in the discovery, development and lifecycle management of pharmaceuticals, biotechnology, medical devices and related health care products. Through our international educational offerings and myriad networking opportunities, DIA provides a global forum for knowledge exchange that fosters the innovation of products, technologies and services to improve health and well-being worldwide. Headquarters are in Horsham, Pa., USA, with offices in Basel, Switzerland; Tokyo, Japan; Mumbai, India; and Beijing, China.

ABOUT NORD: NORD is a nonprofit organization representing U.S. patients and families affected by rare diseases. NORD was established in 1983 by leaders of rare disease patient organizations who worked together for the enactment of the Orphan Drug Act. Today, NORD provides programs and services that include advocacy, education of patients and medical professionals, support for research and patient assistance programs to help patients access lifesaving therapies.