Spring 1997 Page 2

TAKING CONTROL OF YOUR FAMILY'S MEDICAL NEEDS by Joanne Kellermeyer As parents of children born with Incontinentia Pigmenti we have the responsibility of educating ourselves and our doctors about this rare disorder which effects our lives so greatly. Most of us have already dealt with the numerous specialists whom we are encouraged to consult when an IP baby is born. Yet, due to the complicated nature of IP, we are not readily trained to question the Health Maintenance Organizations that oversee the care of our families. I am the parent of a child with IP who has experienced some of the medical complications associated with the disorder. I feel I have learned the hard way how to manage my daughter's medical needs in accordance with the HMO system which seems to dominate the insurance industry. My family has belonged to an HMO system for the past four years and has had the unpleasant experience of changing providers three times under the same employer. As you can imagine it is the same routine of reeducating the new doctors as well as the new insurance company about IP. The most difficult part of this whole process is locating the most qualified specialists for your medical needs and dealing with whether they are "In Network" or not. It can be the most frustrating experience of your life. I have found that there are ways to work hand in hand with the HMO's and feel confident that my daughter is getting the best medical attention available to her in the country. * First, ask for a specific patient representative within the insurance company whom you can contact directly. Do not take no for an answer! You need to have someone you can educate in regard to IP. *Do not accept a waiting period of more than 48 hours for any medical review board approvals. Sometimes time is of the essence and we need to emphasize the urgency of our situations to the patient representative. *If you locate a qualified specialist who is "out of network" or would change the level of payment, be sure to work with the insurance company first in trying to locate an "in network" one who has the qualifications you need. If they cannot, then you should be able to get full "in network" benefits for the specialist you choose. Again, do not take "no" for an answer, you need to find the best qualified doctor out there. *Be specific about what your concerns are to your primary care physician. Do not consider waiting for a specific referral if you see any slight changes in your child's behavior. We know our own children better than anyone else and should expect our doctors to respect our concerns. Educate your doctor so he or she can understand that there cannot be any chances taken. *Many specialists will be very interested in the diagnosis of IP and may ask you to consider letting them study this disorder further. I would encourage you to participate in the genetic research available. We have been given the responsibility of caring for a very rare disorder. One to which there are many unanswered questions and many days of frustration and worry. We can only give ourselves peace of mind knowing, that we have done our best by taking control of the medical management of our children.

EMOTIONAL PAIN AND THE BIRTH OF A CHILD WITH A GENETIC DISORDER The emotional impact of the birth of a child with a genetic disorder will always be an intensely individual experience. The issues one must face are always complex, but in this article I will speak generally of the experience that affects most people. This is not an attempt to provide a solution to what are extremely complex issues, but to identify them, so those who recognize these feelings within themselves realize that they are not alone. Because this is such a difficult life experience for everyone, it is often very useful to seek professional counseling. The psychological preparation for a new child during pregnancy is an idealized one and is the wish for a "perfect" child. The image of the expected baby is a combination of past loves and longings often related to the parents relationships with their own parents and siblings. It is very likely that there is always some difference between the mother's wishes and the actual child; working out this discrepancy is an important step in developing a healthy mother-child relationship. If the discrepancy is too great, as happens when a child is born with a disorder, the experience is traumatic. The mother's reaction to the birth of a child with a disorder is shaped, to some extent, by the severity of the disorder. Being aware of the impact of the experience can make a big difference in understanding the intense feelings of disappointment, helplessness, loneliness, resentment, humiliation, and sense of failure that the individual woman experiences when the child she gives birth to is not "perfect." Whether this is a second or third child may make a significant difference, nonetheless, it is a trauma that must be suffered through and a loss that must be "mourned." Often the mother experiences a feeling of helplessness and failure as she faces the "loss" of the wished-for "perfect" child. Grief is the most common response to loss. "Mourning" the loss is a painful but necessary process. Initially there is numbness and disbelief. This hopefully yields to the intense awareness of the disappointment and profound feelings of loss which often come later. Having to deal with the loss at the same time as parenting a child with special needs can be overwhelming. Just at the moment that a mother expects to feel satisfaction from her new baby, her resources are being strained to the utmost. The unchangeable nature of the disorder adds to the mother's trapped feeling. The parents, and the mother in particular, need support at this time. Fathers have similar feelings and reactions but, the mother's vulnerability is much greater as she is usually the primary caretaker. The parents must face these feelings at the same time as they must deal with very difficult realities; seeking and accurate diagnosis and prognosis of the disorder, learning about the disorder, dealing with many medical providers who may or may not know about the disorder, becoming an advocate for their child and obtaining the necessary services. Many issues which are mentioned in the previous article. This experience also affects all the other family members. For example, in the mother's attempts to ward off her feelings of grief and guilt, she may dedicate herself exclusively to the welfare of the child to the detriment of all other family members. Another extreme reaction is intolerance of the child and a strong impulse not to deal with the problems. Or, the mother may overindulge the child, again to the detriment of other family members. The parents, and mother in particular, need support at this time. The opportunity to understand her feelings of loss for the wished for "perfect" child, and her reactions to her child's special needs. Just at the point when she is beginning to understand the thoughts and feelings of the loss she has just experienced she must take an active role in planning for and caring for the newborn child. When one is able to face the difficult feelings of loss, then one is able to love and appreciate the child one has. Reaching out to others in similar situations, joining support groups or seeking professional counseling can be helpful in this difficult period.

NIPF COSPONSORS CONGRESSIONAL BILL AGAINST GENETIC DISCRIMINATION The Genetic Information Nondiscrimination in Health Insurance Act H.R. 306 would prohibit insurance providers from: 1. denying or canceling health insurance coverage, or varying the terms and conditions of health insurance coverage on the basis of genetic information. 2. requesting or requiring an individual to disclose genetic information, or 3. disclosing genetic information without prior written consent. Language similar to parts of H.R.306 was included in the Kennedy/Kassebaum health care reform bill passed by Congress and signed into law by the President. This law includes genetic information under its definition of a preexisting condition, and prohibits insurers from discriminating on this basis. However, because Kennedy/Kassebaum covers only limited circumstances, this legislation is still very necessary to close the remaining loopholes and protect all Americans from genetic discrimination in health insurance. AN IP GRANDPA IS LEARNING by Walter H. Stern Few moments in life are as poignant as the first time your grandchild calls you "Grandpa." Hillary, before she was two, opted to call me ''Pop-Pop" and I suspect the name will stick. But no matter. What does matter is that she had the cognitive and verbal skills to identify me at an early age and to establish a loving relationship with me when it was easier for her to walk than for me to get down on the floor to play. In short, she is developing into a veritable delight. But the reminders of IP are always there. Her impish smile would be even more captivating if it didn't reveal a distinct dearth of baby teeth and some fang-like teeth where they did appear. When a recent cold triggered an asthma attack that sent her to the hospital, the first question all of us asked was: Could this be IP-related? It wasn't. When friends offer the routine greeting: How's everybody? They quickly add: And how is your granddaughter doing? And, of course, there are the periodic visits to specialists when far fewer trips to a pediatrician would be the norm. Just because Hillary is unaware of her rare genetic disorder doesn't mean that grandpa can put it out of his mind. More than is usually warranted, I take pleasure in watching Jeremy, her four-year-old "brudder" as she refers to him, treat her with gentle affection as if he sensed that she was unusually vulnerable. When he occasionally whacks her in a fit of anger, it spells relief for me that, indeed, theirs is a perfectly natural relationship. Nor can I escape the concerns that come with knowing that problems may lie ahead for her when I'm past the point of being helpful or even present. It's a subject I'm reluctant to raise lest I intrude into the aura of denial that tends to envelop a family that is now catching its breath after those frantic weeks and months of IP discovery, a shock that none of us can ever forget. Balance and perspective are of the essence when you're confronted with the kind of situation IP provokes. Immediate concerns fade into the mind's recesses as the child interacts with me in more knowing ways. And as she and I add new touches of understanding and affection to our mutual repertoire with each visit, I am more and more inclined to appraise her as a whole person for whom her affliction is but a small part of her total being. And through it all, I have an abiding faith that aggressive research into IP may spare her from future problems before they arise.

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JUDITH P. WILLNER, M.D. (Director of Clinical Genetics & Associate Professor of Human Genetics and Pediatrics, The Mount Sinai School of Medicine, and Chairperson of the NIPF Scientific Advisory Council) Dr. Judith P. Willner already had an interest in Incontinentia Pigmenti when she agreed to head NIPF's Scientific Advisory Council. She admits, however, that it was at the behest of Susanne Bross Emmerich that she decided to become involved in research on this disease after meeting Susanne's your grandniece who had just been diagnosed with IP.. Dr. Willner was well trained to undertake clinical research on genetic disorders. She is currently Director of Clinical Genetics in the Department of Human Genetics and Associate Professor of Human Genetics and Pediatrics at the Mount Sinai Medical Center in New York City. Previously, she had served as Clinical Geneticist at New York Hospital-Cornell Medical Center. Her activities include the care of Patients with genetic disorders, the teaching of genetics and pediatrics to medical and genetic counseling students, and trainees in pediatrics and obstetrics, and the preparation of articles for professional journals. Dr. Willner was interested in becoming a physician for as long as she can remember. The daughter of a psychiatrist, she grew up on the grounds of state psychiatric hospitals. Her experiences as a volunteer at these facilities and the influence of her parents convinced her of the importance of pursuing a career that was socially useful.

Interest in caring for people and in science made medicine a natural choice. At Harvard University, she chose a major in biology. Subsequently, she graduated from New York University School of Medicine and chose to enter training in pediatrics at the Children's Hospital National Medical Center in Washington, D.C. She first developed an interest in human genetics during a summer joy in a cytogenetics laboratory at Columbia University. Following her residency in pediatrics, she chose a fellowship in Medical Genetics at Mount Sinai under the direction of Dr. Kurt Hirschhorn, Professor of Pediatrics and Human Genetics, and one of the world's experts in the field. One of Dr. Willner's current interests is to assist in the research to isolate the gene responsible for IP. She says, "We have long known that the defective gene is on the X chromosome, but the identification of the structure of the gene itself and its function is what may lead us toward rational treatment. In addition to the cloning of the gene, a further goal of IP research must be to define the natural history of the disorder --the frequency and severity of its symptoms." In addition to her demanding job, Dr. Willner also has a busy family life. Her husband, Dr. Joseph Willner, is a neurologist on the staffs of Englewood and Columbia Presbyterian Hospitals. Her older son is a graduate student in art history at NYU, her daughter will graduate from Harvard this year, and her younger son is a junior in high school in Tenafly, NJ.

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 invaluable work the services it provides, as well as funding the expenses of the international research collaboration mentioned in a previous article. NIPF would like to take this opportunity to extend its deepest thanks to all of the contributors. 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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