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ART TOUR LAUNCHES NIPF NIPF had its first official fund raiser on September 11, 1995, when more than 60 art lovers converged on Top Gallant Sculpture Park for an outdoor luncheon and a guided tour of contemporary outdoor sculpture. Top Gallant, a 150 acre estate of rolling, wooded hills in Pawling, NY is studded with the works of outstanding sculptors represented by the André Emmerich Gallery in New York City. On this sunny, late summer day, Mr. Emmerich guided two motor tours of NIPF contributors -- one before and one after lunch -- through his property, stopping frequently to discuss the works as background lectures about the collection. Unlike the practice at most fundraising events, attendance at the tour and luncheon did not require an advance contribution. Instead, invitation letters suggested that guests make donations of their choice at any time before or after. Still, the tour produced contributions in excess of $10,000, enough to get the foundation's initial programs under way. In keeping with NIPF's policy to keep costs at a minimum and channel virtually all resources into research and office expenses, the foundation retained a student at the world-famed Culinary Institute of America, headquartered nearby in Dutchess County, to prepare what turned out to be an elegant mouthwatering meal. Evidence? Several guests asked for seconds. At the end of it all, the Top Gallant staff who served the lunch, drove the flatbed truck on the tour and handled most of the day's logistics, contributed their fee to NIPF, a rare gesture indeed and deeply appreciated. Dr. Judith P. Willner chair of the Scientific Advisory Council spoke about the medical aspect of IP and answered questions relating to its clinical manifestations. Dr. Willner was introduced by Susanne Bross Emmerich, the foundation's Executive Director, who established the organization in early 1995, after the birth of her grandniece with IP alerted her to the need for such a group. In her remarks, Mrs. Emmerich commented on the general need for increased attention to "orphan" diseases, (such as IP), so called because they afflict less than 20O,OOO people in the United States. For the most part, guests at the opening luncheon and tour were invited by Susanne's sister Donata Stern, the baby's grandmother, who thanked everyone for attending. Coming from most parts of the New York metropolitan area, many indicated that they looked forward to a repeat tour of the Top Gallant Sculpture Park, if it is offered again as a fund-raiser, requesting to bring along friends who missed the initial event.

YOU ARE NOT ALONE If you have recently learned that your child has a medical problem, this message may be for you. Most parents react in ways that have been shared by all parents before them who have also been faced with this enormous challenge. The most common reactions are denial, anger, grief and loss. These are frequently followed by fear, guilt, confusion, powerlessness, disappointment and rejection. During this period when so many different feelings flood the mind and heart, it is important to know that you are not alone. There are many constructive actions that one can take immediately, and there are many sources of help, communication and reassurance. Listed here are twenty suggestions that will help parents cope more successfully: (1) Seek the assistance of another parent. (2) Talk with your mate, family, and significant others. (3) Rely on positive sources in your life. (4) Take one day at a time. (5) Learn the terminology. (6) Seek information. (7) Do not be intimidated. (8) Do not be afraid to show emotion. (9) Learn to deal with natural feelings of bitterness and anger. (10) Maintain a positive outlook. (11) Keep in touch with reality. (12) Remember that time is on your side. (13) Take care of yourself. (14) Avoid pity. (15) Decide how to deal with others. (16) Keep daily routines as normal as possible. (17) Remember that this is your child. (18) Recognize that you are not alone. (19) Access information and services. (20) Join a group. Should you wish a more detailed explanation of any one of the above points, please notify NIPF and we shall be happy to elaborate. We can also provide a list of publications which might prove helpful to parents, siblings and grandparents.

CONFESSIONS OF AN IP GRANDPA For months, I'd been saying "I don't care if it's a boy or girl, so long as the baby is healthy." Then, the stubborn skin rash she had from birth failed to subside, and a pediatric dermatologist confirmed IP. Shock dissolved into disappointment, then into confusion as the bits of information about IP trickled in. I could see the dismay on the faces of my son and daughter-in-law and instantly knew that I had to lend at least moral support, not exacerbate their despair. First came the temptation to deny. That would be futile, I knew, in the face of learned medical opinions that made the diagnosis unassailable. Then anger, but my religious bent has taught me not to pick fights with God. Then that all-purpose palliative: Somehow it's all for the best. How could it be? Eventually, I settled into the mode that has served me well for the 18 months of my granddaughter's life so far. She is a sweetheart and if I love her for that alone, I love her all the more because she may face a future of unknowns in which a sturdy, upbeat grandfather, as long as he is around, should logically be an asset. Then I found what I believe to be the answer., As she has developed into the perfect counterpart to her three-year old brother, she has a role to play. And so do 1. She is both a foil for his pranks and the object of a love he doesn't yet quite know how to demonstrate in a mature way. In effect, she rounds out the family in the most engaging ways as she begins to relate to those around her. Fortunately, her IP symptoms have been minimal so far. Her skin coloration is not far from the norm and her baby teeth are pointed and widely spaced, with some possibly missing altogether. But what lies ahead with IP? Oddly enough, the advice "one day at a time" has taken on new meaning as I face the first such challenge of my life so close to home. But then, I realized, I've always taken things one day at a time and it has worked for me. More importantly, I've come to understand that it would be folly to deprive myself of the sheer joy that comes from a beautiful granddaughter such as mine. Walter H. Stern MEDICAL INFORMATION BUREAU (Reprinted from NORD ON-LINE Bulletin, December 1995) In a related medical privacy story, the Federal Trade commission has finally done something (although not enough) about the Medical Information Bureau (MIB) in Westwood, MA. The Bureau is a private database financed by 650 insurance companies to keep medical records on millions of Americans. Insurance companies can access the database to obtain information useful for denial of life or health insurance, or to boost premiums on "high risk" people. Under the FTC agreement, consumers can now obtain a free report from MIB and challenge any incorrect or incomplete data in their file. Some of the information gathered by MIB comes not from people's medical records, but from public sources such as a motor vehicle department, which reveals your driving record. Once erroneous information is in a file at MIB, it is often repeated on other records if a consumer doesn't realize that MIB was the conduit.

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Spring 1996 page 3

HOUSE PASSES BILL TO PROHIBIT INSURANCE DISCRIMINATION BASED ON GENETIC INFORMATION; SENATE CONSIDERATION DUE The House of Representatives has passed, and sent on to the Senate, legislation that would prevent insurance companies from denying coverage to persons on the basis of their genetic information. The Senate is expected to take up the issue on April 18. The House bill, H.R. 3160, is a health insurance reform bill that includes portability, preexisting conditions exclusions, medical savings accounts, medical liability reforms, antitrust reforms and other provisions. The bill prohibits discrimination on the basis of "health status" and has been amended to include "genetic information" in the definition of "health status". When the House Rules Committee met on March 27 to combine those two bills, along with a related measure, into one version, it retained the amended definition and the bill subsequently passed on the floor of the House the following day. The NIPF has joined with The Genome Action Coalition, which works closely with both members and staff in the Senate, where S. 1028, a bill sponsored by Senators Kassebaum and Kennedy will be considered. The goal in the Senate is to have the legislation match the House's bill as it relates to discrimination based on genetic information. MAPPING FATE A MEMOIR OF FAMILY,RISK, AND GENETIC RESEARCH by Alice Wexler (a book review) In Mapping Fate, Alice Wexler tells the story of a search for the gene which causes Huntington's disease, once called Huntington's chorea, an illness which afflicted her mother, and which she and her sister, Nancy, have a fifty-fifty chance of inheriting. That it was Nancy, and her father, Milton, who directed much of the extraordinary biomedical research to find the gene and a cure, make Wexler's story both astonishingly intimate and scientifically compelling. She describes the foundation they founded and explores how they developed methods to stir up science. Nancy, like Alice, helped organize the effort that led to the stunning discovery in 1983 of a genetic marker for Huntington's, decades before most scientists thought possible. She then spearheaded an international collaborative group that identified the gene ten years later. With grace and eloquence, Alice lifts her story beyond the specifics of Huntington's to write with a startling universality. It is as if, ultimately, she writes of all families with secrets and illness, Mapping Fate is full of people thrown by chance into living extraordinary lives and illuminates the self-knowledge and action of which they are capable. The foundation that was created by the Wexlers is now involved in the next step, which is to find a cure.

CARLOS F. SALINAS, DMD (Dr. Salinas is Professor, Division of Craniofacial Genetics - Department of Pediatric Dentistry - College of Dental Medicine - Medical University of South Carolina, and a member of the NIPF Scientific Advisory Council ) "Look Mommy, I can smile." This exuberant cry from a 4 year-old was reported by Dr. Carlos F. Salinas after he adjusted the child's first dentures, a step needed because she failed to develop a normal set of primary teeth. Dr. Salinas, who is a dentist and one of the nation's leading specialists in craniofacial genetics, is, among his many affiliations, a member of NlPF's Scientific Advisory Council. There can be many causes for malformed or missing teeth, both primary and permanent, and IP is one of them. Dr. Salinas, whose experience encompasses a large number of genetic causes for such defects, joined NlPF's Scientific Advisory Council because he is optimistic that much can be done to normalize the lives of children born with IP, especially during their younger years. Orodental treatment is beneficial for a number of important reasons. The first is chewing. Good nutrition is vital to a growing child, and good nutrition demands proper chewing of foods, especially newly introduced food items which the child must learn to chew for digestive and nutritional reasons. The second reason is speech. In the critical years when children develop their verbal skills, they face an added handicap if they must learn to form those sounds which, in normal configurations, require the tongue to interact with the teeth in order to produce them. Finally, there is the pall malformed or missing teeth casts on the social interaction of youngsters who are learning to find their place in a world of contemporaries. Ultimately, social self-assurance is a sine qua non of balanced emotional attitudes during the developmental years of a child, he explains. To this end, Dr. Salinas has successfully placed dentures in patients as young as 4 years. He adds that presently there is a significant number of successfully treated children with dental implants, as young as 8 years of age. This is a remarkable advance in the replacement of missing teeth. He puts it bluntly: "It's very rewarding to see youngsters with such problems enabled to enter the mainstream of life." Dr. Salinas comes to his specialty with a wealth of academic and clinical experience. Born in Santiago, Chile, he graduated from the School of Dentistry of the University of Chile. Under the auspices of the National Institutes of Health (U.S.) he was granted an International John E. Fogarty Research Fellowship to study clinical genetics at The Johns Hopkins University School of Medicine, following which he joined the College of Dental Medicine of the Medical University of South Carolina in 1974.

Since then he has published more than 100 scientific papers and edited five books in his area of expertise. One of these deals with recent advances in ectodermal dysplasia, one of the malformations frequently seen in IP cases. He is now professor and director of the division of Craniofacial Genetics of the College of Dental Medicine at the Medical University of South Carolina, and he makes his home in Mount Pleasant, near Charleston. His professional travels have taken him far afield as an international consultant and guest speaker at symposia in Europe, Egypt, Latin America and his native Chile. A busy life usually engenders additional fields of activity, and Dr. Salinas's is no exception. He serves as honorary consul of Chile in Charleston, on the board of the South Carolina World Trade Center and as president of the Hispanoamerican Association of Charleston, among many affiliations. Dentistry is a frequent dinner-table topic, since his wife, Dr. Maria Cordova-Salinas, practices dentistry in Charleston. One of their three children, a daughter, is a second-year medical student. Does all this leave much time for hobbies? You bet it does. Dr. Salinas is deeply immersed in the collection and study of pre-Columbian artifacts. He dubs it his "three-dimensional library," because his special interest is in ceramic figurines found in the central Andes and Mesoamerica, notably those that indicate malformations, such as cleft palate, skeletal problems of the head, eyes and nose. To obtain his exemplars, Dr. Salinas has visited several museums in Latin America and Europe and even joined an expedition in Peru. As one of the pioneers of research into IP and similar afflictions, he was gratified to find colleagues with whom he hopes to open new frontiers in dealing with the defect and closing the gap "between what we see in patients and what we know."         The information provided in our newsletter should not be substituted for personal, professional advice. It is our intention to keep you informed and ask you to always check any treatment with your physician.

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