Arthritis and Musculoskeletal Diseases Centers; presently NIAMS is able to support only 14 of these centers. The research centers are important as they provide for basic scientists and clinicians to interact in a multidisciplinary environment. These centers create a multiplier effect, fostering more research collaboration, faculty recruitment and development, postdoctoral training and graduate medical education. The centers have proven to be the most effective mechanism for the rapid conversion of new advances in basic science into clinical application and improved health care.

Currently, there are only two Skin Disease Research Core Centers (SDRCC) though six have been authorized. The establishment of four added SDRCC's would promote more research programs that relate to common themes in skin diseases. Funding these new centers and programs holds the promise of earlier mitigation of the debilitating effects of skin diseases and the resulting economic impact.

The highest possible funding of NIAMS and NIH will help maintain the position of the United States as the world leader in scientific research and will improve Our ability to help more of our citizens to lead productive, fulfilling lives. While I realize that we have a deficit to deal with and that there are many worthy needs competing for budget resources, I feel that we must look at increased funding for biomedical research as an important investment in our future that will reap definite benefits for our society. The pace at which advances in medical science are made will be dictated largely by the level of future funding.

Increasing the NIAMS budget by $47 Million above the President's allocation would allow the percentage of approved grants to increase to 33% from the Current 27%. It would also enable the Institute to train additional researchers (for a total of 328), fund 4 more Skin Disease Research Core Centers and it would add $21.2 Million to the intramural research program. Furthermore, it would support clinical trials that are so crucially needed to evaluate the efficacy and safety of new therapies.

It is for the reasons I have detailed above that I strongly urge this Committee to provide additional funding for NIAMS. Please continue to invest in science and our citizens. Your past support of biomedical research has helped many Americans in many ways and I am sure that you have their gratitude. I share in their gratitude and I thank you for the opportunity to express my views to the Committee.

STATEMENT OF THE UNITED SCLERODERMA

FOUNDATION, INC.

I am Diane Williams, and I suffer from the disease scleroderma. As a patient and the Founder of the United Scleroderma Foundation (USF), I am grateful to represent all scleroderma patients through this written testimony supporting the NIAMS Coalition proposal that Congress increase the NIAMS budget by $47 million over the President's FY 92 Budget.

Twenty-five years ago as a 23 year-old wife and mother of three beautiful children, a fatal disease was the farthest thing from my mind and my cosmetology career was off to a wonderful start. I then began to suffer for the next two years from extreme weight loss, hair loss, skin tightness, itching and swelling, swallowing difficulties and choking, had carpal tunnel surgery and was told to seek a psychiatrist--all before being correctly diagnosed with scleroderma.

I knew of no other person with this disease and felt thoroughly isolated and alone. My husband was told I'd be dead within six months. Even in the medical community, knowledge was lacking.

After dealing with my depression and fears, the frustration of there being no scleroderma literature for the lay person and the fact that my crippled hands, overwhelming fatigue, itching, joint pain and muscle weakness was ending my cosmetology career, I decided to do something about it. I went public.

My cause became the formation of an organization where others could turn for the education, support and understanding that I couldn't find as a newly diagnosed patient. Public awareness and the funding of much needed research became USF's two other goals. Along with the formation of the USF I also found out that there are hundreds of thousands of patients out there, and I was not alone as suspected. I now consider them as friends. I can personally attest to patients' comfort and relief upon finding someone who understands their dreadful experiences and can send them written materials and newsletters so they can better comprehend and explain the disease to their family and friends.

Scleroderma literally means "hard skin", but its many and varied symptoms can affect the entire body. The localized form, occurring mostly in children, affects the skin and underlying tissue and bone; while the systemic form also affects internal organs. The face draws tight giving a mask-like effect. Oral hygiene becomes a serious problem as the mouth shrinks and will not open or close properly. Skin on the hands also tightens with resulting crippling, and patients are very prone to infections. Circulation is impaired and cold or stress brings on a spasm of color changes and pain in the extremities. Ulcerations occur on the fingers and are difficult to heal, while other infections are caused by a buildup of calcium protruding through the skin. Fear of gangrene and amputation is a continual worry.

Many of these symptoms make it impossible for these people to continue in their jobs.

Prognosis is difficult in most cases, and patients are confronted with fear of the unknown. A major factor in the treatment of

scleroderma is emotional support.

Scleroderma is a debilitating and devastating disease! Symptoms can vary in intensity in a short time; and severe internal problems involving heart, lungs, gastrointestinal tract or kidneys

require extreme measures like oxygen, tube feeding or dialysis. Thirty percent of patients have a rapid progression and die within the first three years.

It is with great sadness over the loss of so many "scleroderma friends" that we appeal to you for help in conquering this disease. The United Scleroderma Foundation observed the awakening of interest in scleroderma research and has seen it increase during our short existence to include the following significant research discoveries:

an animal model, the tight-skin mouse, for studying the
increased accumulation of collagen in the skin

nailfold capillary changes which may provide early
diagnosis and prognosis as well as indicate possible
lung involvement

an inbred scleroderma chicken model

new developments and understanding of scleroderma
kidney, which up until recently has been the number one
killer of scleroderma patients

molecular studies are increasing the understanding of
the control of collagen synthesis

gene studies have been performed which serve as markers
in autoimmune diseases like scleroderma. Understanding
the mechanisms underlying the formation of certain
autoantibodies is important in understanding the origin
and development of these diseases

We appreciate the monies received in past years through your efforts, but we strongly urge that NIAMS receive the $47 million increase which would allow this Institute to fund 33% of its approved grants, train additional researchers, fund additional skin disease research centers, support urgently needed clinical trials, and increase the intramural research program by $21.2 million.

Lay organizations have supported over 3/4 of a million dollars in scleroderma research last year alone. Our funds will continue to increase as must those to NIH.

We

We must not let approved NIAMS research grants go unfunded. must not let well-trained productive investigators close their laboratories and not achieve their objectives. And we must not let young, brilliant researchers with obvious talent find other careers or go into private practice. We must continue to gain new insights into the relationship between the blood vessel pathology and the connective tissue overgrowth that occurs in scleroderma, and we must continue to explain the role of the immune system.

As a proud grandmother now to three-year-old Jordon and
four-year-old Brittany Williams, I have outlived my original
prognosis and have also realized a good portion of my dreams
and goals. Your continued support by providing additional
funding for NIAMS would keep the momentum going and not let
the opportunities for a future free of scleroderma fade
away.

Thank you, again, on behalf of all scleroderma patients, and the Coalition of Patient Advocates for Skin Disease Research of which we are also members, for allowing me time to present these important issues.

STATEMENT OF THE COALITION FOR HERITABLE DISORDERS OF CONNECTIVE TISSUE

Mr. Harkin and members of the United States Senate SubCommittee on Labor, Health and Human Services, Education, and Related Agencies, thank you for this opportunity to provide testimony on behalf of the Coalition for Heritable Disorders of Connective Tissue (CHDCT). This umbrella group of agencies represents more than five hundred thousand patients and family members in this country who suffer from one or more heritable disorders of connective tissue.

I am Priscilla Ciccariello, Chair of the Coalition and Chair of the National Marfan Foundation, a founding member agency of the Coalition. I also serve as a board member of the National Organization for Rare Disorders (NORD).

As you know from my meetings with your staff people and through my presentation before this committee last year, the CHDCT was founded in 1988 in order to: bring about greater awareness and understanding of heritable disorders of the connective tissue in the medical professions and in the public at large; to encourage teaching in the schools training health practitioners that will help them to identify, diagnose, and treat the various heritable connective tissue disorders; and, to foster and support research. There are more than 140 of these disorders, most of which are debilitating, some of which can be fatal, including the Marfan syndrome.

Approximately 40,000 Americans including members of my family are affected by Marfan syndrome. This genetic disorder, which is potentially fatal or severely disabling, is characterized by tall stature, long limbs and fingers, scoliosis, cardiac complications (the most common is aortic aneurysm), and subluxation of the lenses of the eyes.

With thanks to this committee and Congress and NIH, progress is being made in research on Marfan syndrome and other heritable disorders of connective tissue. Last April the National Institute of Arthritis and Musculoskeletal and Skin Diseases sponsored a workshop on Heritable Disorders of the Connective Tissue where, for the first time in a decade, prominent researchers were brought together to discuss the current state of research and to propose the direction(s) for science in this area for the coming years.

Following that meeting both the House and Senate included a recognition of the importance of further research on heritable disorders of connective tissue in their reports and encouraged NIAMS to focus further attention on these conditions during this year.

On behalf of members of the coalition and the constituents of the National Marfan Foundation I want to thank you for this acknowledgement and for this gesture toward progress.

This gesture, however, must go further if significant scientific studies are to take place. Meritorious researchers must know that dollars will be available to back the expressed interest and that their work in this are of orphan diseases will be acknowledged.

Biomedical researchers have agreed that it is harder to get funding for rare disease research than for research on prevalent diseases, and this discourages them from applying for grants. The end result is that children, parents, and loving family members and friends pay the consequence of this inaction. If research is not promoted and adequately funded there can be no hope for those who must deal daily with pain, suffering, financial hardship and emotional and psychological burdens brought about by these conditions.

When research is not adequate, knowledge about a disorder is stagnant, and treating clinicians are taught little, if anything. This means that the condition, which is already little known, remains obscure and the problems of misdiagnosis and improper treatment continue to allow unnecessary suffering and death.

Because of a lack of knowledge about Marfan syndrome and other such conditions many persons who have it go years without diagnosis. All too often, this leads to an untimely and unnecessary death. One such person was Flo Hyman, the U.S. Olympic volleyball player who died in January of 1986 of a ruptured aortic aneurysm associated with Marfan syndrome. Every year we hear of tragic deaths of children and young adults in the prime of their lives who die suddenly because they were unaware that they were living with a potentially fatal disorder.

My own son was diagnosed at autopsy (age 22) and my husband died at age 59 from complications of Marfan syndrome. Two of my other sons and several of my grandchildren are also affected. Just this past February my youngest son underwent open heart surgery to replace his aorta which was dissecting to a dangerous point where it could have ruptured. We were fortunate this time that we knew what to look for when initial symptoms began. How many families do not? How many people will die from Marfan syndrome next year? How many people will remain at risk or disabled from other disorders of connective tissue?

without the basic and clinical research, Americans stricken with Marfan syndrome and other rare genetic disorders have little hope for survival. I refer not only to basic survival, but to a quality of life that enables families to survive together. The toll taken by theses illnesses is enormous, both financially and emotionally. Families can be devastated since multiple family members are often affected. In many cases the wage earner dies leaving the partner with several children in need on ongoing medical care and treatment. Drug therapies, the only treatment now known, can cost several thousand dollars per year, life long.

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