Spring 2002

CONTENTS Page: 1. Letter from the Executive Director 1. IP Natural History Project 1. Importance of Rare Disease Research 2. Genetic Counseling and IP 2. Ectodermal Dysplasia 2. Danish Support Group 3. Incontinentia Pigmenti and Oral Health 4. Spanish Support Group 4. Genetic Data Hoarding 5. French Support Group 6. David L. Nelson, Ph.D. 6. Need for Contributions THE IMPORTANCE OF RARE DISEASE RESEARCH People with rare disorders know how important these disorders are because an "orphan disease", can profoundly impact one's life and one's family. Scientists who study these diseases suggest patients can offer unique knowledge that will inevitably enhance the understanding of more prevalent health conditions. However, it seems that politicians of all nations ignore the importance of rare diseases because public health policy, and the money that governments spend on public health, is usually aimed at "major" diseases that affect large numbers of people. Unfortunately, the neglect of rare health threats is a consequence of minimal resources and lack of political and scientific interest. It is up to us, individuals with rare diseases and patient organizations; to remind politicians, scientists, and the public that orphan diseases are not "minor" health threats. They demand attention; they need resources; and they deserve recognition of the pain and disability that they cause. It is wrong for any society to deny resources to a minority, and minorities should speak up and make their needs known. If you, your child or spouse have a rare disorder, 100 percent of your family will be affected. This is the only statistic that matters when you hear about the billions of dollars spent annually on medical research, and wonder why so little is spend on rare disorders.

LETTER FROM THE EXECUTIVE DIRECTOR We can look back on the past seven years of IPIF's growth and accomplishments with enormous pride. In some years achievements have been a great deal more spectacular than in others, but no year goes by without progress. The year 2001 saw the foundation gain new members from all parts of the world and has become better known to health providers in all the medical specialties that are potentially affected by IP. Hopefully this results in fewer cases of misdiagnoses and more recognition of IP's various symptoms. Research is constantly making headway, although in some years less spectacularly than in others. 2001 was, however, very difficult for fundraising, an experience many charities shared as a result of the terrorist attacks on September 11 in New York City where the foundation is based. IPIF suffered a large drop in revenue, which we will try to make up in 2002. In each newsletter I try to address the concerns that people, who have contacted the foundation over the past year, have expressed to me. One of the major questions has been about statistics. As IP has been unrecognized for so long by so many physicians, accurate numbers are hard to come by. A project I have tried to initiate for some time is finally being undertaken. The story in the next column: "IP Natural History Project" will tell you about this undertaking. I also have always considered genetic counseling of extreme importance and I therefore requested an article on this significant subject. Everyone is aware of the importance of an individual with a genetic disorder not having the feeling of isolation. The need to come to know others with whom they can communicate their feelings and concerns is strong and meetings can be most comforting. For this reason we set up support groups which were reported on in the last newsletter. There are now five such groups which deal exclusively with IP. The founders of three support groups have kindly agreed to write their very different stories. Finally, IP is one of a group of disorders known as Ectodermal Dysplasia. As it is always a good idea to be informed, as much as possible, and this is a term those with IP will likely encounter frequently, I have tried to define it. Susanne Bross Emmerich

IP NATURAL HISTORY PROJECT Ashley Badgewell Genetic Counseling Mount Sinai Medical School Dear IP families and IPIF supporters, I would like to introduce myself and present the upcoming IP natural history project. I am a first-year genetic counseling student at Mount Sinai Medical School in New York City. For those of you unfamiliar with the profession, genetic counselors help parents and patients at risk for genetic disease to organize and understand genetic tests, diagnoses and disease management. Before entering graduate school, I completed my undergraduate work at the University of Texas at Austin. Then, I spent two years as a technologist in a diagnostic cytogenetic lab at Stanford University Hospital in California. I am interested in the way parents of affected children encourage scientific research. The role of scientists and doctors is crucial but no one has a greater interest in eradicating a disease and alleviating its symptoms more than parents of affected children have. I have heard of several situations where dedicated family members have accelerated research by pressuring scientists, raising money, sharing information and spreading awareness. As you probably know, the manifestations of IP are variable and there is a great range in severity of symptoms from patient to patient. This can cause a new diagnosis of IP to be extremely traumatic because parents have little idea what their child's experience with IP will be. With the help of Dr. Judith Willner, Director of Clinical Genetics at Mount Sinai and Susanne Emmerich, Executive Director of IPIF, I will be initiating a study to compile a natural history of IP. In other words, we would like to find out which traits many IP patients’ display which have been previously associated with IP and with what severity. In order for this project to be successful, we need your help! In the coming months, we will be sending out a detailed, completely confidential survey asking questions about your experience or your child's experience with IP. You should not need your doctor's help to complete this questionnaire because I plan for it to be understandable for people with or without a scientific background. However, we may include a separate questionnaire for your doctor to fill out if you feel comfortable asking him or her to do this. Additionally, we may include a section asking about treatments you have found to be most useful in dealing with IP. You will have a choice of completing the survey on paper and then mailing it back to us, OR (hopefully!) an online survey. If enough questionnaires are returned, we feel this can be a major contribution and a great resource for the IP community, as well as a stepping stone for further research. I look forward to working with you. Please look for it in your mail this fall.

 

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GENETIC COUNSELING AND INCONTINENTIA PIGMENTI Kimberly A. Jensen, MSW, MS Genetic Counselor Mohawk Valley Genetic Services Ferre Institute, Inc. Genetic counselors are health care professionals who have earned master's degrees and are trained in medical genetics, bioethics, and counseling. They work in collaboration with medical geneticists and other health care professionals. Many genetic counselors work in large medical centers as part of the genetics service. Genetic counselors meet with individuals and families for many reasons, including establishing a family's medical history of cancer, concerns about birth defects, questions about medications taken during pregnancy, and a family history of a genetic condition. Genetic counselors help individuals and families learn about complex genetic information so that they can make informed decisions. There are many factors that are taken into account when genetic counselors meet with clients. It is important that clients have all the information they need to make choices that are consistent with their personal wishes, beliefs, and ethical values. Genetic counselors do not tell families what they "should" or "ought" to do. A typical genetic counseling session involves collecting a family and medical history, explaining genetic concepts, such as inheritance patterns, discussing testing options and strategies, and talking about the client's wishes. When a child has been diagnosed with Incontinentia Pigmenti (IP), the physician may refer the family to a genetic counselor to have a discussion about how IP is inherited. Women who have IP and want to become pregnant may wish to meet with a genetic counselor to discuss their chances of having a child who has IP. They may also be interested in discussing prenatal diagnosis. Whether meeting with the family of a child who has been recently diagnosed or the couple which is planning their first pregnancy, genetic counselors strive to help clients gain an understanding of options, and to make informed choices. If you would like to meet with a genetic counselor, your health care provider can make a referral. In the United States genetic counselors can be located at the National Society of Genetic Counselors web site www.nsgc.org. Similar organizations also exist in almost all other countries.

ECTODERMAL DYSPLASIA Ectodermal Dysplasia (ED) is not a single disorder, but a group of closely related genetic disorders. More than 150 different syndromes have been identified. One of these is Incontinentia Pigmenti. The Ectodermal Dysplasias are inheritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, cranial-facial structure, digits and other parts of the body. No one is certain how many people are affected by ED. It is known, however, that many more people are affected by ED than was ever thought possible. The number is estimated as high as 7 in 10,000 births (published in 1990 edition of The Birth Defects Encyclopedia). What causes Ectodermal Dysplasia? During pregnancy, as the baby is developing, three layers of tissue can be identified; an inner layer (the endoderm), a middle layer (the mesoderm), and an outer layer (the ectoderm). Defects in formation of the outer layer lead to ED. The reason that so many parts of the body are affected in ED is that the ectoderm contributes to many parts of the body. The ectoderm of the surface of the developing baby forms the skin, nails, hair, sweat glands, parts of the teeth, the lens of the eye, and the parts of the inner ear. Another portion of the ectoderm forms the brain, spinal cord, nerves, the retina of the eye, and the pigment cells of the body. At this time there is no cure.

DANISH SUPPORT GROUP Jeanne Ravnsgaard, Denmark It all started with the birth of my daughter... At first I was very sad and angry. A few months later I thought that I could turn myself around and use this sadness and anger to do something good so that my daughter can grow up and know as much as possible. Through the Center for Rare Handicaps (disorders) and hospitals. I tried to get in contact with other people who also had IP. Soon thereafter I was in touch with other families and 12 people joined our group. Unfortunately we've never had a meeting because something came up each time. So far we're not contributing financially nor do we have a chairman. I am the main contact person. The main reason for this group is to have someone to talk to about our feelings or problems that they can also relate to. Often you can get advice from others that have been in the same situation. I've been working on a brochure with a doctor in genetics from Vejle hospital and hopefully it will be out soon. I'm writing newsletters - the next is on its way.

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INCONTINENTIA PIGMENTI AND ORAL HEALTH Reprinted from Ectodermal Dysplasia Society Web Site The lack of teeth is just one aspect for children with Incontinentia Pigmenti. There are other oral and dental problems that they may face and we can talk about each in turn. Prevention, prevention, prevention! (1) Mouth cleaning For the child in whom teeth may be missing - either primary (milk teeth, deciduous teeth) or permanent teeth, preventing dental disease in the remainder is vital. In my experience, children with large numbers of missing teeth tend to have clean mouths. Whether that is because there are fewer teeth to clean or whether the gaps make it easier, I am not sure, though parents report that cleaning single teeth is actually quite difficult. Cleaning the mouth and teeth, regularly twice a day, really well, is vital. You need to find a method and brush that suits your child - but your dentist or hygienist will help with this; insist on it! Generally, the smaller the head on the brush, the easier it is to get to the back of the mouth. For a child who does not want to cooperate with brushing, using a "Superbrush" can be help. These brushes have bristles on three sides so that as you move the brush along the teeth, it cleans the top and both sides of the tooth at the same time. A single tufted "interspace" brush is good to get into small gaps though it needs some help to manage this. Cleaning is best done after breakfast and certainly before bed. While a child is asleep, there is much less saliva in the mouth. Saliva (spit) has a major protective role, neutralizing the effects of harmful acids produced by food left around the mouth. If that food is not cleaned off before bedtime, the decay cycle can start and go unchecked for hours because there is just less saliva in the mouth at this time. Cleaning effectively is more important than brushing lots of times in a day; no child has the physical skill to use a toothbrush properly until they are around 6 or 7 years of age. They need help with brushing - maybe you brushing around all surfaces after they have had a go themselves. Your dentist or hygienist should advise on the best way to keep your child's mouth clean. (2) Toothpaste Using the right toothpaste is important too. Children under 6 years generally should use a children's formula toothpaste. After 6 years of age they can use the same toothpaste as the rest of the family, provided they like the taste. Encourage your child to spit out any excess toothpaste but not to rinse out vigorously. That way they get the most benefit from the toothpaste. (3) Extra fluorides If the area you live in does not have a fluoridated water supply your dentist may advise you to give your child a daily fluoride supplement. Again, check this with your dentist who will decide on the best preventive plan for your child.

(4) Dry mouth Most children with ED have less saliva in their mouth. This makes their mouth feel dry, food is more difficult to chew and swallow, talking can be more difficult and the child is more likely to develop dental decay. Saliva helps to neutralize acids produced from food and drinks. If you have less of it you are more likely to develop decay with holes that get bigger very quickly. Your dentist will advise on ways around this, which in adults usually involves replacing the saliva that is not there or taking drugs to encourage the remaining saliva glands to produce more. At the same time, it is vital to be really careful about what your child eats, especially sweetened foods and drinks. It is when and how often such things are eaten or drunk that is important. Snacking on and off frequently through the day is the most damaging habit for teeth. (5) Food and drink Dentists can be real killjoys when it comes to diet! However, you will also be keen to preserve any teeth that your child has. The cornerstone of successful prevention of dental decay is keeping intakes of sweetened food and drinks to a minimum. Ideally, anything sweet should be taken at a meal and the number of intakes of such foods and drinks limited to 5 per day. Try to keep sweets and chocolate, as well as fizzy and other soft drinks, as treats to be eaten/drunk after a meal or on a "sweetie day". Resist the pressure to give in to your child's demands for biscuits and sweets and offer safer foods, encouraging your child to eat fruit and healthy snacks. For drinks, stick with milk, water, sugar-free, well diluted soda pop, and of course, unsweetened tea and coffee as they get older. Try to keep food and drink clear of bedtime by about one hour since overnight the protective effect of saliva is much less. Dental Care (1) Advice Any baby should be registered with a dentist - even before they have any teeth! This is a crucial time for getting into good dental habits and to put into practice the advice your dentist or hygienist gives you - for example, safe weaning foods, baby drinks, when to start cleaning teeth and with what. If your dentist thinks that fluoride supplements are needed, they should be started roundabout the time that the teeth come through into the mouth. Your local health clinic may have a community dentist working there or will know where the nearest community clinic is if you do not have your own dentist. Sometimes these clinics specialize in children's dentistry. (2) Care Planning Ideally all children with ED should be seen by a multi-professional team (often called a Hypodontia Clinic) who have experience of working with children that have missing teeth. The team will usually include a pediatric dentist (somebody specializing in children's dentistry), an orthodontist (someone who monitor's growth and development as well as moving teeth with braces), a restorative dentist (someone who provides fillings, crowns, dentures, bridges and implants), an oral surgeon (a person who removes or uncovers buried teeth, transplants teeth and carries out other surgical procedures) and a nurse coordinator who organizes clinics and is available at the end of a phone on a daily basis, for any questions a family may have. It is vital that planning, both short and long-term, is done jointly with all these people who can together decide the most workable plan for you and your child.

(3) Treatment Children with ED may have fewer teeth than children of the same age and the ones that are present are sometimes pointed and small. This may be the case in the primary (milk, first) and/or permanent teeth. Your dentist will suggest a number of options to overcome some of these problems. Small, pointed teeth can be made to look like "normal" teeth by rounding-off with tooth-colored filling materials and that goes for both primary and permanent teeth. Missing teeth can be replaced, if this is thought to be necessary by both the family and the dentist. For a child with primary teeth only, this is usually best done with removable plastic dentures ("Plate"). Your dentist or a specialist in a community clinic or hospital will make these. Helping a child get used to these dentures is important and often the best person to do this is a family member or friend who already wears dentures and will be an expert on how to cope with false teeth. Most children adapt to these very quickly and often their school friends do not know the teeth are not their own. For older children, joint planning at a multi-professional clinic including discussion with you and your child, may lead to an offer of orthodontic work followed by dentures (in the short term) and then bridges. When your child has finished growing, implants may be considered. Waiting lists to be seen by multi-professional teams can be long so it is important that your dentist refers your child to a local team, where one exists, when s/he suspects that your child may have missing teeth. Where there is no multi-professional team much of this dental care will be carried out by an orthodontist working with a restorative dentist in a regional center. Alongside all this, your child will need to see your own family dentist in order to have regular preventive care, for example, fluoride treatment and fissure sealants. Extra fluorides, as well as fluoride that your child will be getting from toothpaste, are used if your child is prone to decay. This is usually painted onto the teeth each time your child visits the clinic. The nooks and crannies ("fissures") on the biting surfaces of back teeth are difficult to clean. A toothbrush cannot reach to the bottom of the nooks and crannies and it is there that decay often starts. Putting a sealant into the fissure (nooks and crannies) prevents germs lodging there and so prevents decay from starting. This is a painless, simple thing that your dentist or hygienist can do. On a day-to-day basis, your local dentist will often help with minor problems like a sharp edge on a denture and, of course, even when your child is being seen by specialists, they should still visit their family or community dentist for check-ups and preventive care.

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SPANISH SUPPORT GROUP Marta Saenz de Santa Maria Co-Founder Spanish Support Group The story of the Spanish support group started with two families and their daughters' IP diagnosis. Like many other families when first given an IP diagnosis, they felt disoriented, uncertain and isolated. Searching for IP on the internet brought these families to IPIF where they learned of the Foundation and of each other. They would spend hours on the phone sharing feelings, doubts, realities and much more. When a third family showed up thanks to IPIF, they decided to meet and since Susanne Emmerich, the Founder and Executive Director of IPIF, was flying to Spain a first meeting was arranged in Barcelona. Since the girls were very young and took up little room, these families managed to stay in a private flat. That weekend was so intense that these three families will stay friends for life. During the day they met with Susanne. At night, when the girls slept, they discussed ideas and projects but had to abandon the possibility of setting up a formal legal association. In Spain this requires a lot of paper work, plus having a website. No one wanted to use their private address because that person would then receive all the mail and have all the work. They decided to split Spain into three parts and assign each of the families one section. A brochure on IP was written and one of the families committed to putting it on the web (www.euskalnet.net/jtena). The brochure shows the phone numbers of these three families and people are able to contact them either by phone or by e-mail through Susanne. Many copies of this brochure have been printed (on private printers) and mailed to all the hospitals in Spain. Each family undertook the work and the expense of their assigned zone. The group is still working this way regarding telephone and similar expenses. The next year we chose a small village on the Mediterranean coast for our meeting. The Town Hall allowed us to use the school premises over the weekend, which was really good for it poured cats and dogs. We also managed to get some coverage from the local press. During the meeting we talked about the discovery of NEMO, the gene which causes IP, and we decided what actions to take. All of which reinforced our feelings of friendship. We had now grown to four families and a visitor: a woman from an association we keep in touch with. This association is called Syndrom and it has a web page: www.webs.comb.es/syndrom. Syndrom tries to bring together a variety of orphan genetic diseases and works for what needs they may have in common. When required, it puts people of a same disorder in touch. It also offers professional psychological support. One of the projects which we were involved in along with Syndrom consisted of setting up a database for IP (Syndrom would produce one for each main disorder) to be placed at the Casualty Department of the main paediatric hospital in Barcelona, giving advice to doctors as to how to or not to act. We did this in conjunction with doctors at the hospital. Last November, also along with Syndrom, two IP families in cooperation with the Hospital Sant Joan de Déu, in Barcelona, gave a talk on how families feel when facing an orphan disease diagnosis. That was part of a 2-day congress on orphan diseases directed by the Genetics Service. What a step forward this was, the medical profession listening to what parents have to say!

Last year we did not hold a meeting. The group had grown. There were now 10 families who had given us their address/phone number, so that we could contact them. Other families had just phoned once and did not leave any particulars. This is a pity for if something new turns up, we cannot share it with them. If one wants to bring ten families together, one needs to know how many people plan to attend, to be able to search for adequate premises. You cannot meet at a park and risk the weather. Here is where we failed: it is impossible to please everyone. You are afraid of setting a date and people not showing up. We did not get the enthusiastic response we had expected. It takes a lot of time and money to phone all those who have no e-mail address. The group has now grown to twenty families. Everyone who has contacted the group has been informed of the Nemo gene and the possibility of a genetic test. We realized that most hospitals did not know about this possibility and many tests would not have been done without our giving them the information. We might not always reply to every letter which is sent to us, and for this we apologize. We are short of time. One contact was readdressed to HITS (a family support network for those affected by Hypomelanosis of Ito). We also were consulted by a local authority requesting school recommendations. We do want to keep in touch but it is difficult to implement. Parents tend to keep their daughters' identity and particulars as private as possible. Yet, they would like to share experiences with families who have similar problems or whose children are of the same age. If we do not give out information to the group, the group cannot benefit from it. People who contact the group do not seek to find friendship, but help. And the question is whether you can obtain help from an annual meeting. In order to try and resolve these difficulties, we have posted a forum on our web page. We hope this will work as an easier way to communicate with everybody. You put up a question, or comment, and everybody has the opportunity to reply. This forum should work as our office, where we could arrange for a virtual meeting to be held. We should reconsider the organization of our group. The initial division into zones is not ideal. Communication sometimes fails among the three founding families. We had left out Latin America. We had also left out communication with IPIF and other support groups, which requires knowledge of the English language. Some families ask for translations of English material. There is a lot of work to be done and we welcome all collaborations. To know that there is a Foundation which is taking care of IP research is more than a relief, but it would be unfair to leave all the work for them and call for help only when needed. Our group will not give up and will stand by IPIF as long as it exists.

GENETIC DATA HOARDING CITED Washington Post January 23, 2002 The race to find new uses for genetic discoveries is hindering the usual exchange of information among university researchers, according to a study. A majority of geneticists say they increasingly are being denied access to colleagues' data, a practice many say may be slowing progress in genetics research. The reasons given for withholding information included the cost and effort of sharing and a desire to protect a researcher or student's ability to publish his or her findings, according to the study in today’s Journal of the American Medical Association. Some scientists also do not share because they are trying to protect their ability to market their research commercially, said lead author Eric Campbell, who teaches health care policy at Harvard Medical School and the Institute for Health Policy at Massachusetts General Hospital. Withholding data may hinder scientists' ability to replicate the results of published studies or pursue their own research, and hurt the education of new scientists, experts said. The survey of 1,240 geneticists found that 47 percent said at least one request for data on published research had been denied in the preceding three years, while 12 percent said they had denied a request for data on published results during that time. Seventy-three percent believed withholding slowed the rate of progress in their field, and 28 percent reported being unable to confirm published results because authors would not share data.

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THE HISTORY OF THE ASSOCIATION INCONTINENTIA PIGMENTI FRANCE Pascal Garcia President INCONTINENTIA PIGMENTI FRANCE How did the association INCONTINENTIA PIGMENTIA (France) start? Who are its members? Why are we here? Like any life story, the association has its own history. Well, here it is, Once upon a time............ 1) JUNE 2000 to MARCH 2001 It all started in June 2000. I was looking for a special unit for IP for my daughter Lisa who was going to shortly be eighteen years of age. I asked myself "Surely there must be an association for Incontinentia Pigmenti to help me. This is not possible"? But of course it was, there was no association. I only had to look on the Internet for what I wanted. I know that I am lucky to have access to this new technology but even if it had not been there I was prepared to knock on every door until I found what I was looking for. The summer of 2000 was spent looking for anyone familiar with this rare genetic illness. After so many long nights in front of the computer screen, I eventually came across details of two mothers whose children were affected by this illness, through the "Maison des Maladies Orphelines" in Paris. This is where it all started......... We were now 3 families. At the end of September 2000, I contacted a family in the Nantes region (in the west of France). I had kept their address which I had received in response to an advertisement that I placed in a specialist magazine in 1995, in which I asked for families who were affected by Incontinentia Pigmenti to contact me. Now we were 4 families. On the 6th of October 2000, a 10-minute was broadcast on French television during a popular health program. Things started happening. Thankfully my Email address, telephone number and street address where given out during the program. Two to three days later I received a letter from a family in the central region of France who had also, some years earlier, attempted to set up an organization. Unfortunately, due to the size of the project and the distinct lack of interest by others they were forced to admit defeat. And now we were 5. Anyway, this family sent me a list containing the details of people, who had contacted them in response to an advertisement placed in a newsletter for a well known French organization for the disabled. There were seven families and I contacted them one by one. Some days later, two more people got in touch by letter and email. And then there were 14 families. In November of 2000, I again placed an advertisement in another specialist newsletter. Three more people responded. Another person contacted us after being told about this association by an existing member. We now consisted of 18 families. At the end of 2000, two other families joined in by hearing about us through more indirect methods. One was a family and the other friend and the other was told about us by someone living in Belgium!!! We now had 20 families and so decided to work together and really start to make progress on a new "Association". There it is, the historic journey told.   2) THE FOUNDATION of THE ASSOCIATION I.P. FRANCE: A SUMMIT MEETING (March 30, 2001) 1. 10 a.m., in Paris, the meeting of 10 families in a conference room loaned by the federation of rare illness associations: At 10 o'clock we were nearly complete, barring a family which had been affected by a strike of railway workers. After about one hour of introductions and sharing of photographs of our children, we sat around a large conference table and began to discuss two major issues. The creation of the association's head office and clarification of its statutes. At midday there was a pause for lunch and a chance to get to know each other better. Then the discussion resumed and we discussed in greater detail the finer points made apparent during the course of the morning.	2. 4 p.m., Necker Hospital, Lavoisier Wing, Genetic Research under the instruction of Professor Munnich. Dr. Smail Hadj-Rabia showed us around the location, followed by the medical team giving us a presentation on I.P. Dr. Christine Bodemer, dermatologist and geneticist, started the meeting followed by Dr. Smail. His approach was to take some chalk and draw a few schemes and tables on the board to explain the NEMO gene, comparing it to an appartment. It showed us the trials and tribulations, its certainties, its questions. Asmae Smahi, the co-discoverer of the NEMO gene which causes IP, explained the research taking place and the hopes that were created by the discovery. This was when Professor Arnold Munnich appeared in the doorway to present and introduce Susanne Emmerich, of the United States, the founder and Executive Director of the Incontinentia Pigmenti International Foundation (IPIF). Dr. Pierre Vabres, dermatologist and geneticist at Poitiers Hospital (in the west of France), formerly attached to the Necker Hospital, was excellent in translating Susanne's speech, which she gave in English, in which she spoke of her personal reasons for her involvement in IP. Dr. Smail finished by showing us the laboratories dedicated to genetic disease research, mitochondria, certain neurological illnesses, pre- implantation diagnosis, and working in close collaboration with another hospital and the laboratory that holds all human material available for the research, and finally the lab where he eventually carries out pre-natal testing. It was more than just scientific data that they presented, they expressed emotion, compassion and an open mind throughout the whole time we were there. 3. 8.30 p.m., The end of the day in the restaurant "le Bistrot de Vaugirard." Professor Arnold Munnich once again went beyond the call of duty and invited us all to dinner in a restaurant that he had previously booked both for us and for the members of the International I.P. Research Consortium, who also happened to be in Paris for the weekend. What a good host he made, he held the door open and welcomed us all in one by one and made sure that we were all comfortable. Once inside, he introduced us to the Italian researchers and his colleague Dr. Michele d'Urso. Two days later we learned that Dr. Asmae Smahi had achieved the standard to be accepted into l'I.N.S.E.R.M (National Institute for Medical Research). Congratulations. We hope that now she has her foot firmly on the ladder and that Dr. Smahi will be able to continue her excellent research in IP that she started so many years ago. We also hope that the Italians, the Germans and the Americans will continue their research, although they had to leave us before the close of the meeting.   3) EVOLUTION FROM MARCH TO NOVEMBER 2001 10 new cases as follows: April 2001 1 IPIF May 2001 1 FMO June 2001 2 FMO July 2001 2 FMO August 2001 1 IPIF September 2001 2 Orphanet October 2001 1 Other IPIF -- Incontinentia Pigmenti International Foundation (USA) web site. FMO -- Federation des Maladies Orphelines (Federation for Orphan Diseases) ORPHANET -- Web site containing a database of rare illnesses. This brought the total of individuals and families to 30. This represents 45 members to the association up through November 30, 2001.	4) MEMBERS SUPPORT A. Meeting to share up-to-date medical information December 1, 2001. The meeting of December 1 took place in the all new library (offered by Dr. Munnich) in Necker Hospital and was hosted by Dr. Smail Hasj-Rabia.  More than fifty people attended (to our surprise, it must be said). There was a sharp increase in membership bringing the number to 88 members through December 31, 2001. It must be said that we were able to confidentially contact 80 families thanks to the administration staff of Dr. Arnold Munnich. The response was well beyond our expectations. B. Social and psychological support One of the association‚Äôs objectives is to offer "social" support to our subscribers. This was one of the principal tasks of the organization in 2001. This was to try to resolve issues regarding government benefits for handicapped people and school integration. There was a lot of work to do. There is also psychological help to be offered to members. This is difficult to measure due to the long time periods involved on the telephone trying to resolve the pain and depression associated with an unknown rare illness that has no cure. What a relief it will be for families when they discover during a genetic consultation that a pre-natal diagnosis exists. 5) SCIENTIFIC ENVIRONMENT The Science Council The council consists of 5 people: Professor Arnold Munnich Professor Christine Bodemer Doctor Asmae Smahi Doctor Pierre Vabres Doctor Smaïl Hadj-Rabia These professionals are based at the Necker Hospital except for Doctor Vabres who is based at Poitiers University Hospital. I can not stress enough the importance of the Science Council's role. The receptiveness and kindness that has been experienced by everyone who has had the pleasure of meeting them is most heartening. The feedback from families that we have referred to Necker Hospital and the genetic consultations they received only goes to prove their availability, easy listening and kindness as well as the display of excellent medical competence. It would be impossible for the association to function without these people. The help provided by the translation of the American IP website provided by Dr. Vabres is also greatly appreciated. In fact, it is an incredible opportunity for our association to be able to benefit so much from these services.   6) COMMUNICATION The media The association is presented on the ORPHANET® website and can be found in the section "Allô Gênes". The objective is to acquire and maintain our own web site. But there is still so much work to do. Two members are currently translating the American pages into French. The work is nearly complete. This is helping us to find even more information and ideas for our website. There is also the association's newsletter "The Gazette" which appeared in July 2001. The first edition was sent to subscribers, donors and people that are indirectly affected by this disease and seemed to have been greatly appreciated.   7) SUMMARY The association is in a very dynamic and continuously growing state not only in the way it works but also in the amount of interest being generated by its members and counselors. There are so many ideas, too many perhaps, and it is already necessary to review the priorities in order to be able to achieve all the objectives and become even greater in numbers. The first nine months of the association (March to December 2001) could easily be compared to the nine months of pregnancy. The "baby" is born, the parents are proud, now we need to concentrate our efforts for the long term and to share the tasks using everybody's abilities, motivation and their availability for the best. To summarize, I think and I am convinced, we should give our children a good education.
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DAVID L. NELSON, PH.D. Professor, Department of Molecular and Human Genetics Baylor College of Medicine Walter H. Stern For all the questions yet to be answered and research yet to be done, David L. Nelson marvels at the transformation that has already changed the prospects of those with IP. From a mysterious ailment many people didn't even know they had, to a well-defined genetic mutation for which prevention and remedy now loom on the distant horizon, IP has become a mission to which he has devoted an increasing portion of his time and energy. Dr, Nelson has been at Baylor College of Medicine in Houston, Texas for the past 16 years. He is currently Professor of Genetics. He is also a member of the International IP Research Consortium, created by the Incontinentia Pigmenti International Foundation (IPIF) which identified the NEMO gene two years ago. "It sort of fell into my lap," Dr. Nelson tells of his involvement with IP research. Because physicians rotate their laboratory affiliations, Dr. Angela Scheuerle, a research physician, took her investigative projects to Dr. Nelson's lab at Baylor, where she sparked his awareness of the disorder. Indeed, for lack of a formal title, the facility is known simply as "The Nelson lab." Most of his work there concentrates on genes of the X chromosome, particularly as they affect mental retardation. Dr. Richard A. Lewis, an ophthalmologist at Baylor (and a member of the Scientific Advisory Council of IPIF as well as a member of the Research Consortium) had initiated IP research at Baylor, and Dr. Scheuerle had taken on the project with Drs. Lewis and Nelson. "IPIF greatly facilitated our work and had a profoundeffect on its progress," Dr. Nelson reports. "It helped us get over the hump of building trust." By this he means that genetic researchers, accustomed to professional rivalry in their work, began constructive cooperation toward their common goal under the aegis of IPIF. This, he explains is no mean achievement in its own right. Asked how he ranks IP in the scheme of health problems, he grew somewhat ambivalent. On the one hand, he said, IP is hardly a scourge in that it affects only one in 40,000 to 50,000 people. On the other, he says when you consider that it is lethal to virtually all male fetuses; it is nothing less than a dread disease. Moreover, the severity of symptoms varies widely and, in any event, IP is still "under diagnosed." Without trying to hold out false hopes to women with IP who hesitate to bear children for fear of passing IP along to them, Dr. Nelson postulates that there is some promise in the process of in-vitro fertilization. In-vitro, he explains, offers the possibility that, of the embryos created this way, experts can cull out one that does not carry the NEMO mutation and thus produce a few free of IP. "But this idea may not suit everyone," he cautions.

"I find this work very gratifying," Dr. Nelson says. So satisfying, he admits, that this and his countless other research projects leave him little time for the trivial pursuits that engage men and women in other fields.  There is no time, for instance, to be a Little League coach, but he does watch the older of his two sons play ball. Indeed, Dr. Nelson's curriculum vitae is an impressive compendium of scientific achievements, writings and collaborations that bids to foreclose much interest for things outside his laboratory. Apparently, this is the story of his professional life which began with bachelor's degrees in biology and chemistry from the University of Virginia in 1978 and a doctorate in biology from MIT six years later. That career path had its origin early in Dr. Nelson's life. He remembers always having had a lively interest in science, sparked all the more by a "terrific biology teacher" in high school who inspired him to take an optional second year in science. But where next? Dr. Nelson candidly admits that the prospect of pre-med courses in college "turned me off. Everyone was so focused on just one thing -- getting into med school. It wasn't for me," he says. Nor was he enthusiastic about a future of spending his life in medical practice. Research held the real charms for him. While medical research is a broad field, Dr. Nelson again attributes his specialization to the influence of an advisor in his post-graduate work who opened up an exciting vista in human genetics. In terms of accomplishments, this advice has paid off. At 45 years of age, Dr. Nelson has held a dozen leadership positions at Baylor and written, co-authored or edited more than100 publicatiions on the subject, about one-third of them as the prime author. "You have to remember," he cautions modestly, "that the first draft of many of these publications is the work of post-graduate students; it's exciting for them and it's really a part of their training." And yet, within the scope of his career, IPIF plays a special role. It is, in fact, the only formal international consortium in which he has participated, although he did join in a more ad hoc effort by a group that identified genes mutated in Fragile X syndrome that can cause mental retardation, and in Lowe syndrome which causes eye disorders. While his family is from Minneapolis, he spent his formative years in the Virginia suburbs of Washington, where his father was a lawyer at the Navy Department. His wife, Claudia, hails from Chicago and is professionally active as a petroleum geologist. No wonder, Dr. Nelson finds little time or interest in such hobbies as golf, tennis or sailing. But when he and his wife do manage to carve out a vacation together, they prefer a bit of family travel, such as a recent trip to England or such Meccas as Yellowstone National Park. Family ranks high on their agenda. And, Dr. Nelson believes he has detected an orientation toward science in his older son already.

NEED FOR CONTRIBUTIONS AND FUNDING   IPIF is grateful to its supporters for their ongoing generosity. IPIF is completely run by volunteers, therefore there are no administrative expenses. IPIF needs your contributions now to continue its valuable work, the services it provides, as well as funding the expenses of the International IP Research Consortium. Raising funds for a rare disorder is extremely difficult.  Most public foundations wish only to fund the larger, better-known health organizations, usually those which are receiving the most publicity. As ground-breaking as the identification of the gene NEMO that causes IP was, there were no newspapers in the U.S. willing to carry the story. Even government agencies have refused financial support. Therefore, it is up to the families, friends and relatives of those with IP to help. If you have not become a member, or have not renewed your membership please consider doing so. Several individuals 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. One may also consider giving a fund-raising event such a tea party, cocktail party, auction, etc. Please keep in mind that whatever the reason, your contribution is essential. Membership Form

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