CHARGE SYNDROME A MANAGEMENT MANUAL FOR PARENTS Edited by Meg Hefner, M.S. and Sandra L.H. Davenport, M.D. © CHARGE Syndrome Foundation, Inc. 1999, 2001, 2012 318 Half Day Road #305, Buffalo Grove, IL 60089 (800) 442-7604 (516) 684-4720 (888) 317-4735 Fax www.chargesyndrome.org [email protected] This project was supported by: ♦ The Minnesota DeafBlind Project ♦ The Maryland Jaycees ♦ The CHARGE Syndrome Foundation, Inc. Copyright note: Parents and others are invited to make copies of sections of this manual for use by individuals involved with the management of children with CHARGE. No part of this publication may be reproduced in any publication, including the Internet, without permission from the CHARGE Syndrome Foundation, Inc. and the author (or the holder of the copyright) of each section. CHARGE Parent Manual: Table of Contents Version 2.1, July 2001 Updated September 2012 I. Introduction History of the CHARGE Syndrome Foundation, Inc. and the Manual Stories from Families II. Priorities: What is most important for your child III. Medical Aspects of CHARGE A. Introduction to Medical Section B. Medical Visit Pad/Record Keeping C. Overview for Physicians D. Diagnosis, Genetics, and Prenatal Diagnosis E. Cranial Nerves and Brain F. Sensory Loss and Development G. Eyes H. Ears and Hearing I. Choanal Atresia J. Cleft Lip and Palate K. T-E Fistula and Esophageal Atresia L. Airway M. Swallowing and Feeding N. Heart O. Renal and Urinary P. Genital/Endocrine Q. Muscles and Bones R. Growth S. Adolescence T. Life Expectancy IV. Development and Education in CHARGE Introduction to the Development and Learning Sections A. The Multiple Influences on Development and Learning 1. Impact of Medical Features on Development Davenport 2. Physical Influences on Development Davenport 3. Influence of Sensory Loss: Communication Bubble Davenport 4. Behavior as Communication T. Hartshorne B. Minnesota Developmental Timeline MN DTimeline Davenport, et al. Table of Contents continued C. Teams 1. Introduction to Teams Davenport 2. Teams and Resources McMullen 3. Educational Teams and Your Educational Team N. Hartshorne 4. Circle of Friends N. Hartshorne 5. Person-Centered Planning N. Hartshorne D. Assessment 1. Assessment of Individuals with CHARGE N. Hartshorne 2. Psychoeducational Evaluation N. Hartshorne 3. IEP IFSP N. Hartshorne 4. Dos and Don’ts for Educators Lyle E. Plans of Action and Therapies 1. Orientation and Mobility Martinez 2. Sensory Integration Maynard 3. Physical Therapy and Occupational Therapy Gregory 4. Physical Education and Recreation Lieberman F. Finding Help V. Glossary VI. Resources HISTORY OF CHARGE SYNDROME FOUNDATION, INC. AND THE MANAGEMENT MANUAL FOR PARENTS The CHARGE Syndrome Foundation was founded in Columbia, Missouri, where it has its roots. It began in 1982 with the Deaf-Blind Project in the Division of Genetics, Department of Child Health, University of Missouri, Columbia. The primary participants in the Deaf-Blind Project were Dr. Joyce Mitchell (Medical Informatics, Dr. Sandra Davenport (Genetics), Dr. James Thelin (Audiology), and Meg Hefner (Genetics). Although the stated aim of the Deaf-Blind Project had to do with diagnosis of CHARGE and description of the features for the benefit of geneticists and other physicians, we all quickly recognized that families need information, too. Audiologist Dr. James Thelin was at the time working with the Quota Club of Columbia, a local service organization for business and professional women. Quota Club had a pot of money and was looking for a project to fund that had something to do with hearing loss. As a result, Jim and Meg became the primary authors of CHARGE Syndrome: A Booklet for Families, with lots of input from Sandy and Joyce. Quota Club member Marion Norbury volunteered to help send out the booklets. In 1988, we printed the first 1,000 booklets, figuring they would last five years or so. (We thought CHARGE was rare!) The typical scenario was as follows: A family would write or call and request one booklet. A week or so later, the same family would request 5–10 booklets so they could be passed out to relatives, doctors, teachers, and others who worked with their child. The booklets were gone in a year and several more printings followed. After publication and distribution of the booklet, we began to get calls and letters from families asking: “Are there any other children with CHARGE in New Jersey?” “Does anyone else have a baby with feeding problems?” “Is my child's heart defect a typical one for CHARGE?” and so on. It was clear we needed a way for families to get more information and to share their information and stories with one another. Until 1999, when the Management Manual was first published, the Booklet for Families remained the best initial source of information on CHARGE available to families. In 1989, Marion, Sandy, and Meg published the first edition of the newsletter: CHARGEAccounts. The first few years were a bit shaky, with issues not always coming out on time, but it was a success with families. In 1993, we incorporated as the CHARGE Syndrome Foundation, Inc. and held our first International CHARGE Syndrome Conference in St. Louis, Missouri. We continue to hold CHARGE conferences every two years, with rotating geographic locations. The Foundation now has a 12-member Board of Directors and a Scientific Advisory Board made up of both medical and research professionals. As we were completing the Management Manual in 2001 we were also preparing for our 5th International CHARGE Syndrome Conference in Indianapolis, Indiana. Previous conferences were held in St. Louis, Portland, Boston, and Houston. Since Indianapolis we have held conferences in Cleveland, Miami, Costa Mesa (CA), Chicago, Orlando, and CHARGE Syndrome Management Manual History 1 of 2 Phoenix. We will be returning to Orlando for our 13th International CHARGE Syndrome Conference, in July 2017. CHARGEAccounts now goes electronically to more than a dozen countries in addition to the United States. Our website makes it easy for families to access information (http://www.chargesyndrome.org) and our toll free number (800-442-7604) and email ([email protected]) give families the option to contact us. In 1997 an active group of families, friends, and professionals began sharing their problems, support, and knowledge over the Internet through an e-mail listserv managed by one of our parents. In 2011, a CHARGE Syndrome Foundation Facebook group was created, which now has over 5,000 members from all over the world and has become the primary means for parents to connect with one another. Version 1.0 (Medical Information on CHARGE) of the Manual was available for the first time at the Houston conference in 1999. Version 2.0 (with Developmental and Educational information) was first available at the Indianapolis conference in 2001. All of the basic information about features seen in CHARGE is accurate, but some of the management and treatment information may be out of date. CHARGE Syndrome Foundation Founders Marion Norbury, Jim Thelin, and Sandra Davenport (L) and Meg Hefner, Marion Norbury, and Sandra Davenport (R) at the Portland conference in 1995. CHARGE Syndrome Management Manual History 2 of 2 CHARGE Syndrome Management Manual for Parents Introduction to the Developmental Sections By Meg Hefner, M.S. Every individual with CHARGE is unique. Each has his or her own unique collection of medical problems. Each has his or her own personality and learning style. On top of that, each individual is in a different family setting and different medical and educational environments. We would love to be able to provide every family with a complete set of resources tailored to their needs. Obviously we cannot do that. As a consequence, every family will find different parts of this Manual helpful to them. Sometimes we have presented the same or similar information in a couple of different formats. Look it all over and choose the parts that are helpful for you. A note on “Deafblindness.” We recognize that not all individuals with CHARGE have both hearing loss and vision loss. Nevertheless, much of the information is labeled “deafblind” or aimed mostly at that population. We did this for two reasons. First, families dealing with individuals who DO have dual sensory loss will have the most difficulty with development and communication and will have the hardest time finding appropriate resources. Second, many of these resources are just plain good resources regardless of the title. Please don’t skip a section just because it is labeled “Deafblind” – take a look and see if it has something to offer you as well. CHARGE Syndrome Management Manual 2001 Intro to Developmental Sections CHARGE STORIES Contents of Stories Page 3 Coloboma Tim Hartshorne 4 Heart Jackie Kenley 5 Choanal Atresia Debbie Matasker 6 Airway Susan Appell 7 Growth Marilyn Ogan 9 Behavior Ana Saruski 10 Ears, dea fness and language Yuka Persico 12 Caitlyn - a week in the life Jeanne McMullen 19 Humor Casey Fisher 19 Transitions Marie Patterson 20 My family Andy Prouty 21 Myself Andy Prouty 22 Interveners Andy Prouty 24 My son 's influence on my life Sally Prouty 27 Patty is a miracle Bonnie Haggerty © CHARGE Syndrome Foundation, Inc. 1999, 2001, 2001 Stories p 1 of 32 Section I - D © CHARGE Syndrome Foundation, Inc. 1999, 2001, 2001 Stories p 2 of 32 Section I - D COLOBOMA by Tim Hartshorne Jacob's retinal colobomas were diagnosed during his first year. The coloboma in his right eye involves the macula and accounts for significant visual loss. His right eye is also smaller than his left. The coloboma in his left eye involves only part of the macula, and he seems to receive useful vision in that eye. His acuity in both eyes is poor, especially his right eye.