Angelman Syndrome, a Parent's Brochure for Parents
Presentations at the 1st World Conference IASO - Tampere, Finland, 4-8 July, 2000
Presented by: Martha Sprowles, (New Hope, PA, USA) Mother of Sara (AS, b. 1985), Member of the IASO Board
I am going to attempt to summarize the parent/professional workshops from this week. Because this is necessarily a brutal condensation of weeks and months of hard work, I hope you will forgive my putting a very personal slant on some of the presentations, rather than trying to summarize every detail of every presentation.
I hope that any presenter whose work I may represent will speak up at the end of this summary and set the record straight. We have some written questions to discuss, and perhaps you will be reminded of questions you did not have a chance to ask as well.
We began with presentations about the electronic sharing of information and other forms of support. Frank van Hof offered an overview of AS resources on the internet; he found that there is a great deal of information available, but little in the way of organization and categorization. His handouts provide a sort of annotated index to what is available, as well as tips on searching for more arcane information.
Robin Alvares is doing an interesting ongoing study of the dynamics of one of the most valuable internet resources, the AS listserv. She has looked beyond the function of the list as a means of communication to an aspect that surely strikes all of us: the role of the listserv as a personal, valuable emotional support for its members. She discussed the advantages and drawbacks of this "cyber-family," often so much more loving and accepting than our real-life families.
"The Angelman Project," by Louise Tiranoff, aims to capture in words and video what Angelman Syndrome means to families, physicians, teachers, therapists-the whole universe of possibilities in every aspect of this disorder. Her final product will be a CD-rom, almost a living textbook on AS, useful to anyone who cares for or works with a person with AS. Julie Hyman, speaking for Louise, reminded us that Louise continues to look for persons with AS to videotape in all sorts of situations.
Sharon Katz and Beth Sturr talked about two very different aspects of day-to-day life for families with AS. Sharon analyzed the stages of emotional adjustment family members can go through in dealing with the stresses of raising a child with a serious disability. She began by encouraging us to take seriously the symptoms of depression, which she outlined, and suggested possibilities for treatment of depression.
Then Sharon led us through the classic stages of adaptation. I was particularly interested in her description of the first phase, denial, as a valuable step. I think most of us are sometimes embarrassed by our inability at times to confront the realities of our lives, to acknowledge that we don't want this to have happened to us-and to think denial as that stupid, babyish stage when we were of no use to anyone. Since people, even old married couples, rarely have perfectly synchronized emotional responses, some of us have experienced frustration and anger with partners who have seemed "stuck" in denial. I personally found it very helpful when Sharon pointed out how valuable denial can be in (her term) "buying time" in the process of adjustment.
The very nature of AS forces us to learn new means of communication and understanding of the unspoken from all our family members. This kink is "normal" family communication immeasurably complicates relations among family members; we become so attuned to gestures, body language and other forms of non-verbal communication that it is perhaps inevitable that some partnerships cannot stand the strain. Divorce and separation, always sad, can be a positive step in emotional adjustment.
Beth Sturr, who must be the most resourceful woman in the world, brought a large assortment of her inventions, adaptations, and discoveries to show us. I can not begin to describe the sorts of everyday problems Beth attacks with practical, sometimes amazing, solutions. Her website, www.bethsturr.com contains the entirety of her work. She assures us that she does not put all her ideas into practice, to which I can only say, "Thank God she's human!"
When I read the advance text of Juan José Palomares' presentation about the New Horizons project he and Maria are involved with, I found it difficult to believe that parents, even dedicated and resourceful parents, could create such a total environment for the life-long care-and "care" is an inadequate word for what Juan José and Maria have done-of a child with disabilities.
Juan José made what I think is an important point in discussing the philosophy behind New Horizons. He points out that we are all disabled in ways that we don't even notice because our environment, created for the vast majority, so successfully accommodates us. Almost every aspect of our day-to-day life is cushioned with devices and techniques to allow us to do what must be done. Why not, in creating a total environment for people with less-common disabilities, such as those imposed by AS, approach the job in the same spirit? To create an environment in which every detail is designed to make what we might describe as abnormal, normal, is quite an achievement.
We heard from some audience members that parent groups in other regions have also refused to accept what is presently available for the long-term care of their children, but I don't think anyone else has so successfully integrated virtually all aspects of life into a single compound-group homes (with emphasis on the "hominess"), education, therapy, occupational training and money-making workshops. I hope Juan José will keep us informed, as years go by, of the progress of New Horizons.
Reports on how to form support organizations followed. Steve Katz described the genesis of the ASF and the subsequent implementation of its strategic plan. To me, this is like a visit to the dentist-a painless dentist, to be sure-a necessary maintaining of our corporate physique. I am not good at organizational stuff, and I am endless grateful to our members who are. Steve provided handouts outlining the steps of implementing the strategic plan.
The President of the Dutch AS group described his organization's efforts to first determine the sorts of information needed by parents of children with AS and then to provide materials to fulfill those needs. He described his own family's struggle to learn what, exactly, was wrong with his daughter, and to help her and the entire family. His family's quest for information and help was certainly familiar.
The Dutch organization has provided, among other resources for parents and professionals, a book, a video, an internet site and a regular newsletter.
Sally Walburn of ASSERT in the UK talked about the supports her organization offers. The quarterly newsletter, even though Sally complains that it's hard to get parents to contribute, is widely circulated and appreciated. I was interested in the ASSERT phone line, which parents can call at any time, and which provides person-to-person support and information. The service is free-volunteers call back parents who call in, saving them the cost of the call-and is supported through donations.
The section on education started off with a report by Hal Lippman about how parents of disabled children in his town who were dissatisfied with the limited educational options offered their children took matters into their own hands and in effect revolutionized education for the disabled in their community. The outcome in his child's situation happened to be full inclusion in a highly respected, academically rigorous public high school, but the burden of his message was that parents can make changes in the education offered to our children.
Representatives from Italy and Norway pointed out that full inclusion of disabled students has been a fact of school life in their countries for many years. I hope that at a future conference they will share with us the story of how that came about and how it works.
Hal was followed by two of the professional staff from his daughter's school, who gave a report on the details of how Danna (Hal's daughter) spends her school days. Danna's speech therapist talked about her communication program and how it is made part of Danna's day.
More detailed information about communication came from Robin Alvares (USA) and A. Rivarola (Italy). Dr. Alvares talked about another ongoing project, her survey of expressive communication skills in children with AS. In this chapter, she investigates the intriguing question of why such a gap exists between receptive skills, which can be quite high, and expressive abilities, which can be quite low in the same child. She considered seizures, medications and visual problems, all of which can impede communication but none of which accounts for the mysterious gap.
She found that motor impairment would interfere with a person's ability to use certain forms of expression, such as signing and gesturing and the manipulation of electronic "talkers."
She feels that probably most crucial in accounting for the gap are oral motor skills and feeding issues. Many children with AS have very serious mouth-digestive-related problems, often from birth, and I think nearly all of our children have tongue-thrusting, drooling and chewing difficulties which would indicate an underlying sensorimotor problem.
Dr. Alvares calls for further research in these mechanisms, as well as in differences in communication abilities among genotypes, levels of cognition and hyperactivity.
Because genetic testing is now generally available to confirm most diagnoses of AS, a wider net is being cast in terms of communication ability. No longer is "absent speech" included in the "present 100%" diagnostic criteria list. Early intervention, use of augmentative and alternative communication techniques and inclusion are seen as ways to improve communication skills in persons with AS.
Dr. Rivarola made a fascinating report on augmentative and alternative communication (AAC), which was unfortunately truncated by limited time. I hope that her entire report will be made available on the internet.
She described how, not too long ago, AAC was employed as a "last resort" after other forms of communication therapy failed. This delay in beginning AAC was detrimental to the development of expressive communication, and experts now know that from birth babies respond to AAC in the form of gestures and other nonverbal cues-and, more important, that parents respond to babies' nonverbal cues. It is imperative for us to built on this innate ability in order to increase our children's expressive communication skills.
AAC represents direct communication and is a functional communication mode. Functional communication is not only a necessity, it is a basic human right.
Communication is defined by Dr. Rivarola as any active transfer of information, intentional or unintentional; conventional or unconventional; linguistic or employing other modes. For too long, "other modes" was limited to PECS, but Dr. Rivarola's presentation described a richness of approaches. I particularly was struck by her insistence that AAC is real communication, not drills. She spoke with such passion which so moved me that I am tempted to repeat here her every point, but my allotted time, too, is unfortunately limited.
Angela Reason, a doctoral candidate in child and adolescent psychology, carried out a study of four children with AS to determine whether they had attained the Piagetan level of development necessary for real play. She found that they had not; some of the children engaged in "practice play," but no symbolic or sociodynamic play was seen.
It is important for families and therapists to be aware of the developmental stage of their children with AS in order to create meaningful and successful plans for education, therapy and play. Ms. Reason also found that the children with AS had definite preferences as to materials they used, awareness of which would be very important in designing programs for them, and also that their short attention span had to be taken into account.
Dr. Faravelli of the Italian contingent presented the results of a survey of the psychosocial state of 40 families with AS. The questionnaire was very interesting, as were the reported responses. I jotted down some of the data that interested me the most.
Although Italy has a national health service, a significant number of persons with AS receive therapy at home, with 37% of responding families having to pay for these services rather than going to a rehabilitation center. Twelve percent of those who did not receive therapy at home had to travel long distances twice a week.
I think we were all most moved, however, by the reports on the families' emotional state. Many of us who have felt, at least at times, that our lives were only "bearable" must have winced to see that word on the screen. This survey, in addition to the great service it does in identifying needs among the families surveyed, also, I believe, serves an even wider purpose in articulating these needs and feelings as universal. I think we-and especially those of us who are here, who are able to attend conferences and otherwise to "do something"-are often too absorbed with our coping mechanisms to remember the reality-and we've all been in these situations-reflected in statistics like "17% of children with AS are home all day," "7.5% share the burden with no one," and, perhaps most universal of all-"What is your vision of the future?" Seventy-two and a half percent don't think about the future at all.
As if our hearts weren't wrenched enough, this report was followed by a group of presentations on sibling issues. Julie Hyman and Cheryl Bodycombe made individual presentations; Julie outlined concerns common to siblings of disabled children, including some of the positive traits and opportunities that go along with this state. Cheryl talked about growing up into adulthood with her older brother, who has AS. Then these two young women were joined by two younger sibs for a panel discussion.
Topics of guilt, resentment, love, including sexual love and responsibility were covered, and it is apparent that this is an area deserving of more attention at future conferences.
I am not comfortable going into much detail on the medical presentations. Dr. Wagstaff reported on the continuing study of sleep problems in AS; it seems that what we know so far is that melatonin works some of the time for some of our children. Dr. Williams' presentation on the risks of recurrence should be read personally by families for whom this is a concern.
Dr. Terry Hutchison presented information, including photos and videotape, about various types of seizures in AS. To my mind, every newly-diagnosed family should have access to this presentation--it's that important. Many of us do not recognize the seizures our children have and do not obtain treatment for them, which can lead to life-threatening situations. I hope the IASO or the ASF will put up Dr. Hutchison's text with streaming video.
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