Rosie O'Donnell and Amy Irving at benefit dinner (photo by Iris Zimmerman)

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CELEBRITIES WAIT TABLES FOR NIPF EAT FOR THE CURE Turnabout is fair play, they say, and so it was on September 16, 1998. That evening some 70 diners crowded into Nick & Toni's Cafe on West 67th Street in New York City for Eat for the Cure, a benefit for NIPF. The idea for the dinner came from Lizz Salaway and Stewart Werner, who have family members with IP, and it worked. Lizz, the restaurant's manager and pizza chef extraordinaire, found donors to contribute all the food, a vast group of party favors, auction items, a banner made with the logos of both NIPF and the Cafe, and even convinced PepsiOne to donate the white waiter jackets with the NIPF logo on the pocket (all of which were later auctioned off,). And then Lizz set out to sell the tickets. By the time she was finished, not a vacant seat was to be found. In addition to all this, it was thrilling to learn that Kathleen Turner had become the official spokesperson for IP. (story on page 1). All this to aid NIPF. The actresses, Linda Hamilton, Amy Irving and Kathleen Turner, TV news anchors Carol Jenkins and Mario Bosquez, Star of TV's "All My Children" Cameron Mathison, Actress and TV Hostess Rosie O'Donnell, musicians Taylor Barton, G.E. Smith and Jay Weiss were armed with trays, order pads, aprons and all the other accouterments of the restaurant trade, and the fun began. Not only were the guests served by the celebrity waiters but they were also entertained by the celebrities, (who seemed to having as good a time as the guests), participated in a silent auction, and then went home with a duffel bag filled with free goodies. Somewhere along the line, someone offered to pay for the privilege of dousing Amy Irving with a pitcher of water. Then Kathleen Turner volunteered to pay to watch Rosie O'Donnell happily sacrifice her hairdo by pouring the water over herself. One of the highlights of the bidding was the purchase of the jacket Cameron Taylor was wearing which he removed during an impromptu striptease performance on top of the bar. And so it went. None of this rehearsed, mind you.

The media turned out in force. The New York Daily News caught Rosie in mid-sloshing and published a rare view of her coiffure undone. The New York Post ran an item, and Fox-TV had a camera crew on hand to record the cold-water barrage. Access Hollywood ran a segment on the next evenings program, and prior to the party Susanne Emmerich was interviewed on Fox-TV. The next Eat for the Cure benefit dinner is now in the planning stages for September 1999. The evening was very lucrative. It also paid off in many non-financial ways. One of the members of NIPF was watching television late one night when she saw some of the publicity. She was astonished when it was announced that all of the proceeds would be donated to NIPF. She called to ask if it was "really true". She then wrote a letter, which is sent to everyone who participated. The letter was so moving that I have excerpted it below.   Heather Weiss' Letter To those who participated in the NIPF fund-raiser: I was watching television late one night when I saw four celebrities waiting tables for charity. I got very excited when, at the end of the segment, they announced that all the of proceeds would be donated to the National Incontinentia Pigmenti Foundation.(NIPF). My 13-months old daughter Hannah was diagnosed with IP when she was 3 months old. My husband, family, and I were terrified to think that our beautiful little girl could have something wrong with her. We didn't know what IP was or what it could do to Hannah. No one could tell us anything about this genetic disorder, and the doctors who examined her, and thought she might have it, knew very little about it.

My aunt found NIPF on the internet and sent an e-mail to the Executive Director Susanne Emmerich. She sent information on IP and told us about the protocol at Mount Sinai Medical Center in New York. We traveled to New York this past April so Hannah could be examined and evaluated, and we could get answers to our many questions. Families who have to deal with this genetic disorder are grateful to the NIPF, organizers, and celebrities who work so hard to raise funds for the research needed to isolate the IP gene. Only when the gene is identified can a cure be found. Moreover, the rarity of IP contributes to misdiagnoses by the medical community, and, with so few of the population affected, funds for research are a scarce commodity. On behalf of all the families of little girls who have been diagnosed with this disorder, I want to thank you.   WE'RE NOT FRUIT FLIES "Humans are lousy reproducers." This comment by Dr. Richard Alan Lewis (bio on page 5) was prompted by an IP-related query: A woman who gave birth to a baby with IP had a miscarriage about a year earlier. Is it likely that the miscarried fetus was a male with IP since such fetuses are rarely carried to term? Dr. Lewis thinks this need not be the case because human miscarriages are more common than generally thought for a variety of reasons. He cited a statistic that the average woman who conceives typically has one-and -a-half miscarriages. Compared with fruit flies, which produce as many as 10,000 offspring in a very short life span, human females usually do not give birth to more than a half dozen children. "We're just not very good at reproducing, though we have a lot of fun trying," he said.

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GLOSSARY Many words that are used to describe IP are somewhat technical, and not easily understood by those who are not in the medical, or a related profession. It therefore becomes confusing to those who are trying to make sense of this disorder that either they or a member of their family have. I would like to attempt to define, in the simplest most easily understood way, those words that I am asked about most. Americans with Disability Act (ADA) A 1990 federal law that forbids discrimination against persons who are disabled. (The definition of 'disabled' continues to be expanded by the Courts.) amniocentesis A prenatal test (typically done at 14 to 18 weeks gestation) in which cells from the amniotic fluid surrounding a fetus are removed in order to examine their chromosomes. After the IP gene has been isolated, it will be possible for an expectant mother to have amniocentesis (or Chorionic Villous Sampling [CVS]) to discover if the child she is carrying has the IP gene. brain The primary central nervous system structure (situated in the skull) which sends out and receives messages to and from the rest of the body. central nervous system The parts of the body that includes the brain and the spinal cord. chromosome One of 46 small separate strands of rod-shaped bodies, paired as 23 pairs, in the center of every complete cell which contains genes. Among these is one pair called the sex chromosomes, made up of X and Y chromosomes. These determine the gender of a person. XX is female and XY is male. IP is X-linked, meaning that an altered or 'mutant' gene is located on one of the X chromosomes. Therefore, a female with IP has one X with the IP gene and one X that is normal. Since the IP gene is dominant, the female with that chromosomal pair will be affected with IP. If a male has the IP gene on his one and only X chromosome, (he then has no normal X chromosomal information for that gene, and has a Y chromosome that contains no information for this gene) he will be affected and cannot survive.

conception In reproduction, the point at which a sperm fertilizes an egg. diagnosis The act of identifying a disease from its symptoms and signs. disorders Problems in how the body functions. Health problems caused by mutations in the genes are referred to as genetic disorders. IP is a genetic disorder. DNA The biochemical material inside the nucleus of cells that carries genetic information. dominant gene Having power and influence. The gene for IP is a dominant gene. If the gene which causes IP is within each cell of a person, the resultant disorder will definitely show up and the person will have IP. embryo The developing organism in the first three months following conception. fetus Before birth the fetal stage from the end of the third month until birth. gene The essential and minimal unit of genetic information. All living things are made up of cells. Inside each cell are chromosomes which contain genes. Genes contain the instructions for making the cells and for doing the work that goes on inside them. But the human body is very complicated, so it needs a lot of instructions. Genes contain these instructions and help to decide many traits such as your size, build, coloring, even whether you are male or female. Sometimes, as in the case of IP, a gene does not give the right instruction, and things go wrong. That is why IP is referred to as a genetic disorder, that is, it is based in and caused by an altered gene. Scientists think that humans have somewhere around 80,000 genes. For hundreds of years, people have known that traits can be inherited. They observed how looks were passed down from parents to children. They noticed how illnesses run in families.

genetic counseling Education and guidance offered by professional advisors in order to help people make informed decisions based on genetic knowledge. Genetic counseling is intended to help a person understand the meaning of specific information about his or her genes, and the disorders that they cause. genetic linkage study Examination of the DNA of family members to determine who may be at risk for a genetic disorder occurring in the family tree. Doctors look for variations that appear consistently in the DNA of family members with the disorder. These DNA variations may or may not be related to the genetic disorder. In the case of a woman with IP, who has other family members with IP, it can sometimes be determined if IP is present in the embryo she is carrying. genetics The field of science that studies the natural differences and similarities which often, but not always, are passed from one generation to another through the genes. heredity The handing down of certain traits from parents to their offspring. The process of heredity occurs through the genes. human genome project The scientific mission to "read" the order of genes as they appear in the DNA of human chromosomes. The Human Genome Project actually is not one project, but rather many hundreds of separate research projects being conducted throughout the world. The objective is to create a directory of the genes that can be used to answer questions such as what specific genes do and how they work. incontinentia Lack of control. e.g. Incontinentia Pigmenti - lack of control of the color in the cells of the skin. in vitro fertilization (IVF) The mixing of eggs with sperm in a laboratory dish in order to achieve conception. (in vitro = [Latin:] in glass) mutation Changes that occur in a gene making it different from customary and 'normal', and sometimes resulting in an abnormality. IP is the result of a genetic mutation. A normal gene that changes and behaves abnormally.

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GLOSSARY continued optic nerve The nerve that transmits sight impulses from the retina of the eye to the brain. pigmenti [from Latin: 'of pigment'] Pigment is the dye-like material in cells that provides color to skin, eyes, and hair. prenatal Before birth retina Part of the eye that receives the image and which is connected to the brain by the optic nerve. seizure Sudden attack; convulsion. Sometimes temporary loss of consciousness with muscle contractions possibly due to fit or generalized spasm of uncontrolled electrical activity from the brain. spasm Contraction of any muscle that is sudden and involuntary. sperm Male fertilizing fluid spinal cord Part of the central nervous system enclosed within the backbone. It transmits impulses to and from the brain.   BIBLIOGRAPHY Articles available in 11 languages The bibliography listing articles written about IP for medical journals has, until recently, had only articles in English. However, so many requests have been received for articles in other languages that the bibliography now includes articles on IP in Czech, Danish, Dutch, French, German, Hebrew, Italian, Japanese, Polish, Russian, and Spanish. Updated copies of the bibliography are available at no charge to members of NIPF. Please mail your request to the NIPF office

INTERNATIONAL IP RESEARCH CONSORTIUM UPDATE The members of NIPF are most interested in the progress being made by the Consortium. Therefore an article on new developments will be included in every newsletter. As mentioned before, the Consortium meets every six months in one of the participating laboratories. Since the printing of the last newsletter, two meetings have been held, one in June in Heidelberg, Germany, and one in December in Paris, France. The meeting in Heidelberg consisted of members of the consortium as well as others who work in the facility and have a special interest in IP. To fully appreciate the enthusiasm of the members of the Consortium, I would like to tell you a story about the French members. There was a transportation strike taking place at that time in France, and it was impossible for people to travel by rail, or airplane. As the meeting began, and the French team had not arrived, we all assumed that they were unable to attend due to the difficulties of travel. Just then, Arnold Munnich and Asmae Smahi appeared. They left Paris in the late hours of the night, and driving through the dawn, arrived only ten minutes late. A very heartwarming sign of their commitment. As always, the meeting lasted for two days. Reports were made, and many discussions followed, all too technical to relate here, except to say that everyone left feeling quite elated that a great deal of progress had been made, and perhaps a major breakthrough. Everyone agreed on each labs assignments and the next meeting was then set up for Paris. As frequently occurs, when working in the very complicated field of genetics, not all the high expectations subsequently work out as wished for. Some of the elation felt when leaving Germany last summer had proven to be unwarranted. What was then discussed in Paris, was how to proceed with the new information that the Consortium had uncovered in the intervening months. It never happens that research takes a straight path to a final, definitive answer There are inevitable twists, turns and false leads. When the Consortium met in Paris in December, all the findings of the past months were reviewed and it was decided that the area of the X Chromosome to be investigated should be greatly expanded. The area of investigation was divided between the 6 labs, the next meeting planned and all went back to work. The lab in Cambridge, England felt that the new amount of work would require them to hire an additional researcher, but that it was not economically feasible for them to do so. NIPF therefore agreed to pay the salary, and the additional person was hired. No one should feel discouraged, as this is the normal course of events when attempting to isolate a gene. One should not lose sight of the fact that no matter how many directions the path takes, there is no doubt that at the end will be the gene which causes IP. The next meeting is scheduled for June 1999 in Cambridge, England.

FOR IP PARENTS, IT'S THE DISEASE OF A LIFETIME by Walter H. Stern For cynical viewers of prime-time television, it's the "disease of the week." TV dramatists find fertile ground in such dread ailments as cancer and AIDS and, in the minds of some, this can become a tiresome routine. IP is different. Classified as an orphan disease -- the definition of which is that less than 200,000 Americans have it -- IP affects a relatively small circle of families, bound together increasingly by the work of NIPF. But for them it's not the disease of the week or month, or year. It is a problem that remains with them for a lifetime. That poses a dilemma. There is no instant recognition when one tells friends that your daughter or granddaughter or you has IP. TV crews don't rush to your front door when you reveal that there is IP in the family. And, in most respects, you don't want them to. In a curious way, IP is a private matter that wants to go public. Since the formation of NIPF, by Susanne Emmerich it has indeed, gone public. Through fund-raisers, news- letters and a website on the internet, more and more people are becoming aware of this rare genetic disorder. Breaking through the publicity barrier is a bit more complicated. From the standpoint of newsworthiness, it's difficult persuading the media that here is a problem that directly affects mass readership. It doesn't. So why publish or televise news about it? Once NIPF was formed in 1995 it undertook to form a consortium of genetic researchers to delve into the problem. Like any exploration, the venture has met with some successes and some false starts. At the same time, Mount Sinai Medical Center in New York City has accepted IP patients into their Clinical Research Center for evaluation. The clinical data collected is valuable information for the Consortium, and at the same time, guide the affected families in dealing with the varied effects of IP. For a grandfather of a child with IP, such as this writer, the process is already exciting even lacking definitive results. Not only exciting, but also reassuring in that it will eventually produce the most important outcome which is the isolation of the gene that causes IP, and an eventual understanding of how it functions. Perhaps it's not the stuff of prime-time TV. But when the job is done, it may be a TV saga of how determined scientific work prevented IP from becoming a disease of the week

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RICHARD ALAN LEWIS M.D., M.S. (Professor, Departments of Ophthalmology, Medicine, Pediatrics, Molecular and Human Generics, Cullen Eye Institute, Baylor College of Medicine and member of the NIPF Scientific Advisory Council) If future generations of women with IP can live with confidence that they or their daughters need not fear blindness or visual impairment, they will owe much to the intellectual curiosity of Richard Alan Lewis. Dr. Lewis, an ophthalmologist with a staggering bibliography of books and scientific papers, of lectures and research associations, found his interest in IP piqued in a chance meeting. During a conference with a dermatologist and a geneticist concerning an unrelated ailment, he came upon the idea of cross-fertilizing research in their respective disciplines and urged them to share their interests in X-linked disorders, skin disease, and hereditary eye diseases, as they relate to common attributes shared by IP and other disorders. While the concept of chromosome breakage as the likely source of IP is still under investigation, he explained, he had been alerted to this possibility by Dr. Jerome Gorski (a member of the Scientific Advisory Council of NIPF) when he was a student at the University of Michigan Medical School. He became further intrigued during the mid-1980's when he worked on mapping genes for hereditary eye disease, especially those affecting infants and children, with colleagues in the Human Genome Project, sponsored by the National Institutes of Health at Baylor College of Medicine. He currently serves as a Professor at the Cullen Eye Institute's Neurosensory Center at Baylor. The International IP Research Consortium consists of 6 labs in 6 countries, one of which is at Baylor College of Medicine in Houston, Texas. Dr. Lewis' role in the research is to identify appropriate families, to secure the accuracy of the diagnosis, to establish a detailed family history and pedigree, to review the records of the affected individuals, to provide the appropriate counseling, and obtain the informed consent of all participants in the program. Asked whether the eye can be insulated from the effects of IP, he made it clear that the time is not yet at hand -- not until the offending gene has been identified. The nature of the blood vessel defects in the eye associated with the altered gene seem to be similar to the blood vessel changes that affect the brain in some IP females.

"An ophthalmologist will tell you that the brain is an extension of the eye and a neurologist will probably tell you the opposite, and both are probably right, because the retina and the brain are part of the central nervous system." Dr. Lewis said. "But the fact is that the involvement of brain and eye must be considered together until the nature of the damaged X-Chromosome has been run to ground." This does not mean that medical science is helpless in dealing with IP eye impairment in the meantime. As Dr. Lewis explained it, the first diagnosis of IP, in a typical case, is usually made soon after birth by a pediatric dermatologist when the infant's skin eruptions occur. Once IP is diagnosed, parents would be well advised to seek out an ophthalmologist familiar with IP as their next port of call. This and periodic examinations during the first few years of life will establish whether there is eye damage or the potential for it. The culprit, he explained, is uncontrolled growth of blood vessels on the retina. When this occurs, it can be treated by laser or by cryopexie, i.e. a freezing process, to "sabotage" or scar in the excessive growth of abnormal blood vessels. The upside of it all is according to Dr. Lewis, that if the IP-oriented ophthalmologist consistently finds no early evidence of eye impairment, the patient stands an excellent chance of going through life with normal vision. As an aside, Dr. Lewis commented on the undiscovered or unsuspected cases of IP. "When a dermatologist identifies a case of IP, he accepts the whole family as his client," he said. Indeed, there are many instances of children born with IP whose mothers attributed their own vision impairment or other symptoms to more mundane causes when, in fact, they were IP carriers themselves. Dr. Lewis' growing involvement with IP dates to 1991 when he joined the Medical Advisory Board of the Incontinentia Pigmenti Support Network, an ad hoc group that ceased operations with the establishment of the National Incontinentia Pigmenti Foundation, in which Dr. Lewis is a member of the Scientific Advisory Council. In addition, he has since authored several papers dealing with IP and related genetic mutations.

A native of Boston and a graduate of Harvard University, he undertook his medical and ophthalmological training at the University of Michigan, and Albert Einstein School of Medicine, in New York, as well as one in macular diseases at the Bascom Palmer Eye Institute of the University of Miami. He eventually became associated with Baylor, also traveling widely to pursue research and to consult for a large number of corporations and foundations. Given his crowded professional schedule, it may seem surprising that he finds time for gardening - tomato plants are his favorite - and woodworking. "I rarely need to call in tradesmen for ordinary home repairs," he reports. In the home of which he speaks, he lives with his wife, the former Patricia Marie Neidig. Their children, Richard Neidig Lewis and Catherine Peterson Lewis, are grown.   NEED FOR CONTRIBUTIONS AND FUNDING NIPF is grateful to its supporters for their ongoing generosity. Several people have taken the opportunity to make a gift in honor of a deceased friend or loved one, or sent in a contribution to celebrate a special occasion such as a birthday, anniversary, graduation, etc. When such a contribution is made a letter is sent to the family being so honored acknowledging the contribution. These donations help NIPF continue its valuable work, the services it provides, as well as funding the expenses of the International IP Research Consortium. Please keep in mind that whatever the reason for the contribution, it is always fully tax deductible.     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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