FIRST lobbies for funding skin disease research

We are excited about this progress, and about the current research into gene therapy. We are hopeful about the possibility for an effective treatment or cure on the horizon, but at this point it is still just hope.

June 1, 2000 - Testimony of: Elizabeth Gray & Matthew Gray, Elkhorn, Nebraska on behalf of the
Foundation for Ichthyosis & Related Skin Types, Inc. (FIRST), Pennsylvania.

Relating to: Funding for Skin Disease Research and the Budget for the National Institute of Arthritis, Musculoskeletal, and Skin Disease (NIAMS)

Submitted to: House of Representatives Committee on Appropriations Subcommittee on Labor, Health and Human Services, Education and Related Agencies Washington, DC March 29, 2000

Written Testimony:  March 29, 2000 Foundation for Ichthyosis & Related Skin Types, Inc.

Mr. Chairman and members of the Subcommittee: The Foundation for Ichthyosis & Related Skin Types, Inc.TM (FIRST) wishes to thank the subcommittee for this opportunity to testify regarding funding for skin disease research and the budget for the National Institute of Arthritis, Musculoskeletal and Skin Diseases (NIAMS). FIRST is a voluntary organization dedicated to providing support, information, education and advocacy for individuals and families affected by ichthyosis. FIRST supports research into causes, treatment and a cure for ichthyosis. Two years ago, this country embarked on a commitment to double the National Institutes of Health (NIH) budget in five years. We are very grateful for the hard choices that you made in the past two years to see to it that this commitment is kept. To ensure that federal appropriators will have sufficient funds to honor this commitment and to provide the NIH with an increase of 15% in fiscal year 2001. This increase should proportionally provide NIAMS with $405 million in the next fiscal year. Ichthyosis is a family of genetic skin diseases characterized by dry, thickened, scaling skin. These diseases are caused by genetic defects that are usually inherited. Currently, there is no cure for ichthyosis, and there are no truly effective treatments. Some forms of ichthyosis cause the skin to be very fragile and blister easily. Scaling and flaking are continuous. The skin may become thickened and cracked. When this happens on the palms and soles, something as simple as holding a pencil or as natural as walking can be difficult and painful. Some individuals are at risk for dangerous overheating from minimal exertion. Currently, ichthyosis is a life-long battle. Infections are a constant threat. Simple medical procedures are complicated. Days and activities are planned around skin care. Stares and questions from strangers are common. While the physical aspects of ichthyosis are obvious, the blows to ones self-esteem can be even more damaging. Hopefully, medical research will find effective treatments or even cures for ichthyosis. We recognize this Subcommittee’s strong history of bipartisan support for medical research funding and the NIH. Recently the identification of the genetic defects underlying both Darier and Hailey-Hailey diseases has been identified. Although both diseases are relatively rare, the fact that both are due to mutations in genes that regulate cellular levels of calcium in the epidermis has greatly increased our understanding of the regulation of cellular differentiation. Additional genetic mutations that cause other forms of ichthyosis have been identified and scientists and physicians have a much better understanding of the disease process. We are excited about this progress, and about the current research into gene therapy. We are hopeful about the possibility for an effective treatment or cure on the horizon, but at this point it is still just hope. We continue to be frustrated by the lack of effective treatment options. In 1992 a member of FIRST testified before this committee regarding the need for a national registry. Today, as a direct result of your interest and support, we have the National Registry for Ichthyosis and Related Disorders. Many of our members, and their physicians, have participated in the detailed enrollment process, and the number of affected individuals enrolling continues to increase. The registry helps generate researcher interest in ichthyosis, and provides investigators with an essential tool - a pool of affected individuals with a confirmed clinical diagnosis. The availability of this pool of information results in significant savings in research time and dollars, which would have normally been spent identifying eligible patient populations. Biomedical research is the foundation upon which all medical care is based. Our Nation’s biomedical research infrastructure is an intricate relationship of academia, industry, and the federal government. The NIH serves as the primary source for basic research through universities and independent research institutions. This synergy has alleviated suffering for millions of Americans by Fostering the development of innovative treatments, including drugs and vaccines as well as fostering hope for those who continue to suffer. If the NIH is to unlock the mysteries of disease, translate the recent discoveries of the research bench into new treatment for the bedside, it is necessary that the appropriation for the NIH be a sizable, sustained and stable effort. We hope that you will keep the faith with your constituents, and increase the NIAMS budget to $405 million. On behalf of our members, those with ichthyosis and their families, we thank this Congressional Subcommittee for their time and attention.

Verbal Testimony:   Presented by Beth & Matthew Gray April 5, 2000
Foundation for Ichthyosis & Related Skin Types, Inc.,TM (FIRST) Chairman Porter and Members of the Subcommittee, good morning. I appreciate very much this opportunity to testify regarding funding for skin disease research and the NIH budget. My name is Elizabeth Gray. I am a member of the board of directors of the Foundation for Ichthyosis and Related Skin Types,Inc.TM – FIRST – but, more importantly, I am Matt’s mom. This is Matt. Matt is nine years old and was born with ichthyosis. He is the author of Matt’s Message for Kids, an Internet accessible story of what it is like to be a child with ichthyosis. In a moment, he will tell you himself what living with ichthyosis is like. I would like to begin by thanking you, on behalf of FIRST and its members, for your strong support in past years. Because of that support, we have a national registry for ichthyosis and related disorders, and tremendous progress has been made in the area of human genetics and gene therapy. FIRST is a national, not-for-profit organization. We receive no grants or contracts from the Federal Government. We do receive approximately $4,700 per year from Federal employees through the Combined Federal Campaign (CFC). Ichthyosis is a family of genetic skin diseases characterized by dry, thickened, scaling skin. There is no cure for ichthyosis. There are also no truly effective treatments. There are over 20 forms of ichthyosis, with the most common form, which often goes undiagnosed, affecting one in 250 people and the least common form affecting, perhaps, one in a million. Ichthyosis, in its more severe forms, is a chronic, disabling disease, which significantly affects the quality of life. People with ichthyosis often have difficulty in employability, social acceptance, and psychological well being. Personal care can take several hours a day, making it difficult for people affected by ichthyosis to participate in normal activities and for parents of children with ichthyosis to work full-time. Currently, we spend, on average, about 15 hours a week taking care of Matt’s skin. However, ichthyosis affects much more than the skin. For example, Matt also suffers from low muscle tone, or hypotonia, a common complication. This, along with the tightness from his dry skin, made it difficult for him to learn to walk, write, and even to read, because strong eye muscles are needed to track letters across a page. Getting Matt to the level of functioning he has today has required a considerable investment in time and effort for physical, occupational and vision therapy, and exercises to strengthen his muscles. Matt is also at risk for overheating, another common problem for individuals affected by ichthyosis. This means he can’t play outside on a really hot day, can’t participate in most sports, and sometimes has to take a cool-down break during gym class or while playing with friends. Small stature and nutritional and growth problems are another common issue with ichthyosis. Although the outer skin is thicker than normal, it is also less effective in preventing water and calorie loss, making it difficult for many children with ichthyosis to get enough calories to grow normally. This past fall, we were excited to learn that Matt has finally reached the very bottom rung of the growth chart for boys his age. But he still uses a different chair from his classmates so that he is tall enough to reach his schoolwork. On the other hand, Matt is luckier than many other people with ichthyosis. He is alive and, for the most part, comfortable. He is not mentally retarded; his skin does not blister when touched; he has not routinely been hospitalized with infections. We live in a small community where people are used to Matt’s appearance and don’t point, stare, or lecture us on the benefits of sunscreen. Matt is confident and outgoing, and has lots of friends, even though he can’t keep up with many of their more physical activities. Matt has shared his story on the Internet; now he’d like to share a part of it with you: "Hi. I was born with ichthyosis. When people ask what’s wrong with me, I just tell them I was born with dry skin. I use lots of lotions and also eye drops and eardrops. It hurts when I comb my hair. I have to get up extra early in the morning to shower and do my lotions before school, and then I do it all over again every night. I also lotion my hands and face during school to keep them from drying out. On weekends, I take a long soak and use a pumice stone to scrub my body. Once, in second grade, I didn’t do my lotions at school, and then my hands cracked and bled, and it hurt when I tried to hold a pencil. Other kids are usually nice to me, but sometimes, people stare at me or ask what happened to me, or say I got a lot of sun. I’m used to it, but sometimes it still bothers me. I wish there was a cure so that I wouldn’t have ichthyosis any more." As you can see and hear for yourself, Matt’s a great kid with a tremendous amount of potential. He rarely complains, except when I am trying to work the scales out of his hair. Still, I worry about his future: whether he’ll be able to afford all the out-of-pocket costs necessary to keep his skin healthy; whether he’ll have difficulties in employability like so many other people with ichthyosis; whether young women will be able to see past his skin and give him a chance; and even more immediately, whether he will survive his middle school and high school years with his self-esteem intact. The ability to network with other families affected by ichthyosis has improved greatly over the past few years. Matt and I hear from lots of people who have read Matt’s Message on the Internet. Most are parents of children with ichthyosis, looking for support or advice, but some are adults who have ichthyosis and just want to tell Matt to "hang in there". We support each other, share information, and pass on things we’ve tried in an effort to treat ichthyosis. Someone mentions a shampoo we haven’t tried on Matt yet, and immediately, I am calling our pharmacy to find out how I can get it. You can’t imagine the collection of shampoos and lotions and creams and oils that we have in our house. These are generally intended as treatments for other conditions, such as acne or psoriasis, but we give them a try anyway on the basis of someone’s anecdotal evidence. This method of finding a treatment is not very efficient and obviously, has not been totally successful either. In the novel, The Thresher, written by Herbert Krause, a doctor in a rural Minnesota town tells a mother, after diagnosing her son with ichthyosis, "It’s rare, but it occurs" and adds, "Wish I could suggest a remedy." That novel was published in 1946. Today, more than half a century later, scientists have discovered some of the genetic mutations that cause certain forms of ichthyosis, but parents of children with ichthyosis are still hearing almost exactly those same words from their doctors: "It’s called ichthyosis; it’s rare, but it occurs; I wish there was an effective treatment." From my understanding, the NIH is moving increasingly in the direction of clinical research. NIH funded researchers have already made many innovative discoveries and are on the verge of wonderful new information, particularly with regards to genetic diseases like ichthyosis. Matt and I are asking you to take advantage of this momentum by substantially increasing funding for clinical research, so that these scientific discoveries can be translated into effective options for prevention, treatment, and hopefully, even a cure for Matt and others like him. Thank you very much for your time.
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