Speeches & Testimony

Testimony Before the House Appropriations Labor, Health and Human Services, Education and Related Agencies Subcommittee, March 14, 2001

Mr. Chairman and members of the Committee, thank you for allowing the National Organization for Rare Disorders (NORD) to testify before you today regarding funding for the National Institutes of Health (NIH). My name is Diane Dorman, Senior Director for Public Policy for NORD, and as a representative of the rare disease community, I want to express our deep appreciation for all you have done to ensure increased funding for biomedical research ­ research that has been used to reduce suffering and save lives.

I am here today to ask that the Office of Rare Diseases at the National Institutes of Health (NIH) be adequately funded to ensure that ALL Americans, not just a select few, have access to the incredible work being done at the NIH. Today, only ten cents for each and every person suffering with a rare disease or disorder is allocated to the ORD. We are asking for a mere $1 for each man, woman and child who must sometimes wait years for a diagnosis -- $25 million to "uncover new knowledge that will lead to better health for everyone." We are also asking that ORD be given permanent status to allow for a diagnostic and research center, and to expand the authority of the office because it does not currently have a permanent line item in the NIH budget.

NORD is a federation of approximately 140 voluntary health organizations and over 70,000 individual patients, healthcare providers and clinical researchers dedicated to helping people with rare "orphan" diseases. An orphan disease is defined by statute as any disease or condition impacting less than 200,000 Americans. It makes no difference whether you are male or female, rich or poor, young or old, white, African-American, Latino, Asian or American Indian. These diseases affect everyone.

Rare "orphan" diseases include such better known diseases as Sickle Cell anemia, Tay-Sachs, Hemophilia, Fanconi's anemia, Tourette Syndrome, Lou Gehrig's disease and scleroderma. They also include obscure diseases such as Landau Kleffner Syndrome, Wilson's Disease, mastocytosis, Canavan disease, and fibrodysplasia osssificans progressiva (FOP). In a recent article by Thomas Maeder in the Red Herring, FOP is described "as one of the strangest and rarest diseases of all, with about 125 patients in the United States." The body mysteriously "transforms its muscles, tendons, and ligaments into boneŠ." Internal organs are not affected and so patients can live normal life spans unless they "die from complications secondary to their immobility, like pneumonia, falls, or choking on aspirated food."

Our commitment to those 125 FOP patients and the estimated 25 million other people suffering with the approximately 6,000 often debilitating and devastating diseases is the identification, treatment and cure of rare disorders. Approximately 5,000 of those conditions are genetic diseases. In fact, no research is being pursued for most of them. You can imagine the frustration many of these people feel knowing that no one is willing or able to conduct vitally needed clinical studies to develop new treatments or cures.

The mission of the National Institutes of Health is to "uncover new knowledge that will lead to better health for everyone." Yet, millions are being left behind simply because they lack the knowledge or vast resources available to many larger disease groups that allow them to exploit the resources of the NIH. In fact, the National Commission on Orphan Diseases (DHHS, 1989) estimated that only 30 percent of the 25 million patients suffering with rare diseases receive a diagnosis in three to five years after the onset of symptoms. That works out to about 7.5 million patients who are shuffled from specialist to specialist, year after year. Fifteen percent, or 3.7 million people, wait seven years or more. Those statistics are both frightening and unacceptable.

To help fill that void, the Office of Rare Diseases at the NIH was created in 1993. Its mission is to:

• Stimulate and coordinate research on rare diseases
• Compile and provide information on rare diseases to patients and their families, as well as researchers and physicians interested in conducting clinical research
• Co-fund with NIH Institutes and other organizations approximately 50 scientific workshops a year costing between $35,000 and $75,000 each to

• Stimulate research where none exists
• Establish research priorities
• Develop collaborative research protocols
• Encourage the exchange of ideas among investigators, voluntary patient support groups and NIH Institute staff to stimulate new research, and finally
• Take advantage of scientific opportunities

• Develop and maintain the Rare Disease Clinical Research Database describing over 1,600 research protocols.
• Develop and maintain the Medical Genetics and Rare Disorders subfile of the Combined Health Information Database (CHID)
• Provide information collected from voluntary patient support organizations
• Coordinate and provide liaison for the NIH with federal and non-federal national and international organizations concerned with rare disease research and treatment of rare diseases.
• Identify current needs in the coordination of rare disease research in cooperation with voluntary health organizations, research investigators and the pharmaceutical and biotech industries
• Bridge the gap between basic and translational research
• Discover opportunities to increase research resources
• Develop novel methods of research planning, coordination and collaboration

This small office, funded with little more than $2.2 million for the 2001 fiscal year, is the only central government resource available to 25 million people. When you do the math, that $2.2 million works out to be less than ten cents for each and every American suffering with a rare disease. And while the entire NIH is enjoying increases of 14 percent and more, the ORD has seen increases of little more than three percent.

We ask today that this Committee consider the creation of one intramural research and diagnostic center for the study of rare diseases. The center should conduct research on rare diseases and conditions; take advantage of emerging research opportunities; and, augment NIH Institutes' research for neglected rare diseases.

We also ask that the responsibilities of the ORD be extended to include:

• Oversight of the intramural research and diagnostic center for the study of rare diseases
• Recruitment of qualified academic scientists to participate in the grant review process for rare disease research proposals
• Support of grants for clinical pilot studies
• Collaboration with industry to develop gene vectors for gene therapy experiments
• Expansion of existing programs to provide support for 100 scientific workshops and symposia annually, and
• Development and maintenance of a central clearinghouse for rare and genetic disease information, written in understandable language for use by patients and their families.

Because rare disease patients are particularly impacted by the cost of diagnosis, treatment and ancillary support services that can reduce a family to poverty, and because patients must often travel long distances to academic hospitals to see the few specialists who work on their particular disease, we also ask that this Committee consider the creation of four regional extramural diagnostic and research centers to expand patient outreach activities and facilitate the development of post-doctoral training fellowships.

Mr. Chairman and members of this Subcommittee, we deeply appreciate Congress' commitment to increase research funding for the NIH by 50 percent over the next five years because many have benefited from the groundbreaking work already being done today. But we respectfully request that you appropriate a minimum of $25 million to the Office of Rare Diseases for the coming fiscal year to help the 25 million Americans who look to you and all members of Congress for help.

Appropriating just one dollar for each rare disease patient in America who is suffering with a rare disease, rather than the current funding level of less than ten cents, is a win-win situation. Patients win when their symptoms are alleviated or cured. Families win when their loved ones no longer suffer. Society, as a whole, wins when patients are able to return to school or work to become productive tax-paying citizens. Pharmaceutical and biotechnology companies win when they are able to develop new therapeutic products. The scientific community wins when the knowledge they gain can be applied to more prevalent diseases. And, finally, the government wins when the drain on healthcare dollars is minimized.

I would like to leave you with a quote from Thomas Maeder's article ­ "Yet even if the worries of the few were laid aside, and one cared only about bringing the biggest benefits to the greatest number of people, it would still make sense to study rare diseases. We understand health through the observation of illness, and the more illnesses we survey, the more we are likely to learn."

Again, thank you for your continuing commitment to the National Institutes of Health and your recognition today of the unmet needs of those who suffer with rare "orphan" diseases.

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