Bringing rare diseases to light

Genzyme and NORD establish patient assistance program to help undiagnosed patients with rare diseases

Lloyd Dunlap
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CAMBRIDGE, Mass.—Genzyme, a Sanofi company, and the National Organization for Rare Disorders (NORD) have announced the creation of a fund to pay for standard diagnostic testing for people with mysterious, undiagnosed medical conditions. The fund will help those who have applied to the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP), but who cannot afford the basic medical tests needed to make them eligible to participate in the NIH program.
“While progress in scientific research has been very promising in recent years, millions of Americans who have rare diseases go for five years or longer without an accurate diagnosis,” said NORD President and CEO Peter L. Saltonstall. “This delays treatment and creates enormous financial and emotional stress for patients and their families.”
“The program is just being established now and will serve patients applying to the NIH Undiagnosed Diseases Network, which will launch in the spring or early summer of 2014, so we are not actually serving patients yet,” Mary Dunkle, NORD’s vice president for communications, tells DDnews. “However, the program will work as follows: When patients apply to the NIH Undiagnosed Diseases Program, they must undergo certain baseline medical testing as part of the application process. This is required because there is very high demand for the program’s services and NIH tries to identify the patients most likely to benefit from the program. When insurance will not cover this mandatory testing and patients can’t afford the out-of-pocket costs, they will be referred to NORD by the NIH program directors for assistance in paying for the cost of the testing. Being accepted into NORD’s Patient Assistance Program will not guarantee admission into the NIH Undiagnosed Diseases Program, but it will remove a barrier that currently exists for consideration for the NIH program for patients who can’t afford the required baseline testing.”
NORD is gearing up now to serve those patients. “We believe promoting timely diagnosis is one of the most important things NORD can do to help patients with rare diseases,” Dunkle states. “This new program will provide assistance to pay for medical testing, as well as travel assistance for patients who must travel to testing centers.”
Genzyme has been a longstanding partner of NORD, and the creation of the Genzyme/NORD NIH Undiagnosed Diseases Fund is another way for Genzyme to support the rare disease community, company officials noted. The new fund is made possible in part by a team of Genzyme employees who run the Boston Marathon to raise funds for NORD services on behalf of all patients and families affected by rare diseases. Since 2008, members of the Genzyme Running Team have been paired with rare disease patient partners, and they devote months before the Boston Marathon to training, raising awareness and fundraising. The team has raised more than $250,000 for NORD since its inception. Thirty runners and their partners participated in the tragic 2013 race, during which two bombs went off—fortunately, none of the Genzyme team members were injured.
“This initiative highlights the unmet need that still exists in helping patients with rare diseases find an accurate diagnosis,” said Dr. David Meeker, president and CEO, Genzyme, in a news release about the Genzyme-NORD effort. “We are proud of the work of the Genzyme Running Team and are excited that their fundraising efforts will be focused on a program with such immediate and direct benefit for patients.”
“We are grateful for the interest of Genzyme, NORD and the Genzyme Running Team in supporting the Undiagnosed Diseases Network,” said Dr. William Gahl, director of the NIH Undiagnosed Diseases Program. “The UDP serves individuals and families who are desperately seeking a diagnosis after having exhausted all other avenues. We look forward to the expansion of the program in 2014, and we feel that support for this standard testing will be an important source of assistance for patients and their families.”
Established in 2008, the NIH UDP is the primary national resource for patients and their physicians who have exhausted other alternatives in seeking a diagnosis. Those accepted into the program go to the NIH Clinical Center in Bethesda, Md., where a multidisciplinary team of medical experts seeks to unravel the mystery and determine a diagnosis.
NORD is a nonprofit organization established in 1983 to represent all individuals and families affected by rare diseases. It provides advocacy, education, support for research and patient assistance programs to improve the lives of the estimated 30 million Americans living with rare diseases.

Statistics related to time-to-diagnosis for people with rare diseases
National commission on orphan diseases report (1989)
  • For nearly one-third of patients with rare diseases, it takes up to five years
  • For 15 percent, it takes six years or longer
NORD/Sarah Lawrence College study (2003)
  • For 36 percent, one year or longer
  • For 14 percent, six years or longer
Informal NORD anecdotal survey (2013)
  • For 12 percent, three to five years
  • For 20 percent, five to 10 years
  • For another 20 percent, 10 years or longer

Lloyd Dunlap

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