Living with Lowe Syndrome

A Guide for Parents, Friends, and Professionals (©2000)

Table Of Contents Foreword I. Frequently Asked Questions II. Background III. Medical Features IV. Genetics V. Research VI. Development and Education VII. Parents and Families: Living with LS VIII. The Lowe Syndrome Association IX. Glossary X.Medical and Scientific References

Foreword

In the thirteen years since the original edition of this booklet was published, we have scrambled to keep up with the rapid pace of medical and scientific progress. In this, our third edition of Living with Lowe Syndrome, we are delighted to present new information regarding the discovery of the Lowe syndrome enzyme and the establishment of new diagnostic tests. We have also expanded considerably the section on kidneys and have added growth charts in the section on bones. The topic of eating difficulties is now included in the section on special health concerns. The genetics chapter includes new information on mosaicism as well as new sections on new mutations and non-carriers. Other new features include a convenient guide in question and answer format, new material in the family section, a glossary, and all new photographs.

After careful review, the entire text has been expanded where possible and revised and streamlined where needed. Many people contributed to this project, including parents, friends, and professionals. We are especially indebted to the members of our Medical and Scientific Advisory Board for helping to ensure the accuracy of the medical information in these pages. Any mistakes are mine, however, since final editorial decisions rested with me.

Although the primary purpose of this booklet is to meet the information needs of families, we believe it will also be a valuable resource for educational and health professionals. Well informed parents working together with caring and knowledgeable professionals can provide the best possible help and support for the child.

We enter a new century eagerly anticipating new medical and scientific breakthroughs that we all hope lie ahead. As more progress is made, we will continue to scramble to keep you informed, even if that means doing this all over again in the future.

-- Kaye McSpadden, Director of Public and Scientific Affairs

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