Our Newsletter

Every year since the Summer of 1982, the LSA has published its newsletter, On the Beam, three times a year. We follow the lives of our members' sons through the letters and photographs published in the newsletter. A member recently noted, "I wish we could publish On the Beam more than three times a year. I wait month after month for the newsletter. When it finally arrives, I drop whatever I'm doing, curl up on the sofa and read. It's like visiting family. No matter how bad my situation is, the newsletter lifts my spirits." As one of the main vehicles for communication, On the Beam, features articles on research, useful resources, and information of interest to members of the LSA.

Membership

Since this is a rare disorder, it is possible that a family may live in a state, region or country in which there is no other case of Lowe syndrome. To help families connect with each other, we've published an annual Parent Directory since 1983. We've grown from 15 families in 1983 to over 225 families in 37 states and 26 countries. In addition to families, the LSA has over 261 members who are relatives, friends and professionals.

Email Discussion List

LSA members may participate in LSA-Talk, an email discussion list. Through LSA-Talk, members may share concerns, questions, experiences and advice regarding Lowe syndrome and issues relating to the LSA.

International Conferences

The first International Conference on Lowe Syndrome was held in 1986. This was truly a historic event. For the first time in history families living with Lowe syndrome met each other. At this conference, the founder and president of the LSA, Kaye McSpadden shared her experience with Lowe syndrome and how the LSA began. Read the keynote speech from the 1986 conference: "A Funny Thing Happened on My Way to the Rose Garden." As Kaye shared her experiences, we came together as a community. As Kaye told her story, families nodded, "yes, that happened to us too", and cried, "it hurts to remember," and smiled "yes, our son does that too" and laughed "yes, just like our son." Every family in the room had similar experiences to share. In 1986 we became a family of support for each other. We've held International Conferences every two or three years since then. Please see the LSA Conference section for complete information on our past and future conferences.

Medical Research

In 1986, the LSA gave its first Medical Research Award to Drs. Richard A. Lewis and Robert L. Nussbaum in celebration of their success in the regional mapping of the Lowe's syndrome gene on the X-chromosome. Since its initial days in 1983, the LSA has supported medical research and sought to cultivate mutually supportive relationships between members of the medical and scientific community and LSA families. Many LSA families have participated in research studies which have helped to produce the major findings in recent years. In 1987, the LSA Board of Directors decided to launch the Medical Research Grant program in support of medical and scientific research. Since then, we've awarded fourteen grants that have helped researchers to complete their work relative to Lowe syndrome.

Our Own Research

In 1986, the LSA took a new and bold direction and decided to step into the research arena in a new way. At the 1986 conference parents had many questions: When will my son begin to speak? When will he walk? Will he walk? If he develops glaucoma at what age will it happen? What is the life expectancy of our boys? Will they read, be able to learn? What happens as they age into adulthood? Parents became frustrated when our professional guests didn't have answers to their questions. "Without this information, how can we as parents know what we should be doing to help our sons develop to their capacity?" A member of the LSA Medical and Scientific Advisory Board stood up and addressed the parents saying: "What you need to understand is that right now YOU are the experts in Lowe syndrome. You know when your sons took their first steps and spoke their first words. There are no studies which have collected these data." After this exchange, the Board of Directors met and decided that the LSA had to launch a major research project to document what we, as parents and experts in Lowe syndrome, know about Lowe syndrome. We relied upon our newly formed Medical and Scientific Advisory Board to guide us as we took on what would be a major endeavor.

The Report on the Lowe's Syndrome Comprehensive Study was published in 1991. This study provided new understandings of how boys with Lowe syndrome develop. From these data, we are able to provide families with information that will help guide them in providing the best care and development assistance possible for their sons. Most importantly, this study highlighted that the unusual behaviors exhibited by many of our sons were similar and that there was a relationship between the behavior problems and the onset of puberty. The National Institutes of Health studied our findings and launched a new protocol to study the occurrence of behavior problems in Lowe syndrome. Their findings determined that there is indeed a behavior phenotype specific to Lowe syndrome.

Between what the medical and scientific community have learned and what the LSA learned from its study, we were able to publish a comprehensive booklet on Lowe syndrome: Living with Lowe Syndrome: A Guide for Families, Friends, and Professionals.

The fruits of our labors

For such a small organization, we've accomplished a lot. See a list of our milestones for some examples of what we've done. We do a lot with a little. We operate across a vast geography as volunteers. The Board of Directors consists of nine parents and one aunt. Sometimes we amaze ourselves at what we've accomplished and how we've grown as an organization. As a result of our efforts, we are proud to report that:

• children are being diagnosed earlier in life and with greater accuracy
• families are receiving more accurate information and greater support
• boys and young men affected by Lowe syndrome receive better care and more effective treatment
• physicians, counselors, educators and scientists have a better understanding of the complexities of LS and how to develop the best care and treatment plan for the child.
• the defective gene was identified and mapped and the underlying biochemical defect was discovered.
• behavior problems are now identified as symptomatic of the syndrome and better ways to deal with these behaviors are being investigated.
• families are no longer isolated and alone.
• siblings have a better understanding of their special brother and a network of friends with whom they can share common experiences.
• we know that there is a great range of possibilities for boys with Lowe syndrome as they age.

The Future

While we've accomplished a lot, we have much more to do, especially as we begin to hear from families, physicians and scientists from all over the world. We need to translate our materials into many different languages. We need to help more families to attend the conferences. We need to support research at higher levels. To accomplish our future goals, we need greater financial resources.

If you would like to support our work, please consider joining the LSA or making a special monetary contribution.