IYC Articles - Comments

Dear ISEI Members, Thanks so much to all of you who participated in the Infants and Young Children Articles and Comments Page on the ISEI Website.

The questions and comments for Debra Skinner and Rebecca Schaffer's entitled "Families and Genetic Diagnoses in the Genomic and Internet Age" and the responses (in CAPS) can be found below.

Please note that two new articles have been placed on the Current IYC Articles. All previous articles will continue to be available by accessing the “IYC Previous Articles”

Best regards

Mike Guralnick
Chair, ISEI

Comment 1:  The article, Families and genetic diagnoses in the genomic and Internet age, offers valuable information to I&YC’s readership. Advances in medical interventions and corresponding services and supports for families with a member with a rare genetic condition coupled with increased use of the Internet opens many doors for both families and professionals. Parents and other family members gain critical knowledge and are on increasingly equal footing with early interventionists, therapists and other pediatric specialists. The Tracking Rare Incidence Syndromes (TRIS) project is an example of an effort to link families and also to assist professionals to better understand the needs of children with conditions such as Trisomy 18 and 13 (http://web.coehs.siu.edu/Grants/TRIS/). A pilot study is currently underway with the long term result of reaching families throughout the world via an online survey and database. As Skinner and Schaffer so eloquently state, “…parents believe they are more knowledgeable than most professionals about their child’s particular genetic disorder…they see their role as educating and negotiating with professionals about appropriate diagnoses or treatments.” (p. 22-23). The TRIS project staff applauds the authors for sharing their work. In addition, one of our project staff (Michelle Evans-Hayden) felt a direct connection to the article and offers the following comments: I felt a strong connection with the families due to my own experiences, both as a professional, and as a parent of a child with a rare syndrome. When children are initially diagnosed or suspected of having a certain disorder, a parent feels lost. After hearing the news, the world turns into a blur. Even with the most experienced and knowledgeable medical professional explaining the situation to you, you may not remember anything that was said. You go home, and once you feel comfortable enough to deal with the situation, you begin the search for answers. The search for answers on the Internet is in the hands of the parent or family member. They can control the amount of information they obtain at a time, rather than sitting through an appointment with an overscheduled doctor who may not have all of the answers or who feels an obligation to share what they may have read a paragraph on in medical school. In my experience, the most traumatic or worse case scenario is presented. When you go in with a baseline of knowledge for the next appointment, it is easier to cope when you further understand the complexity of the syndrome or disease and, yes, support groups can have a knowledge base like no other. Experience is the best teacher when it comes to genetic/rare disorders. Knowledge is power for advocacy. Deborah A, Bruns, Ph.D. Assistant Professor, Department of Educational Psychology and Special Education Southern Illinois University Carbondale TRIS Principal Investigator Shirley Lockwood, L.V.N. Escondido, CA Mother of child with trisomy PT6p TRIS Research Coordinator Michelle Evans-Hayden, B. I. S. Southern Illinois University Carbondale Mother of child with Sturge-Weber syndrome TRIS Graduate Research Assistant 2/2/2006

RESPONSE TO COMMENT 1: WE WOULD LIKE TO THANK THE AUTHORS OF THIS COMMENT FOR SHARING INFORMATION ABOUT THE TRIS PROJECT, WHICH IS AN EXCELLENT EXAMPLE OF ONLINE EFFORTS TO BRIDGE EXPERIENTIAL AND MEDICAL KNOWLEDGE. WE LOOK FORWARD TO READING ABOUT THE RESULTS OF THIS SURVEY EFFORT. WE ARE ALSO PLEASED THAT FAMILIES' EXPERIENCES DISCUSSED IN OUR ARTICLE RESONATED WITH A TRIS TEAM MEMBER WHO HAS FIRST-HAND EXPERIENCE RAISING A CHILD WITH A RARE SYNDROME. MICHELLE EVANS-HAYDEN'S COMMENTS REINFORCE THE LESSONS WE TOOK FROM OUR ANALYSIS: THAT THE INTERNET PROVIDES A MUCH-NEEDED SPACE IN WHICH PARENTS CAN LEARN AND SHARE IMPORTANT EXPERIENTIAL AND MEDICAL INFORMATION AT THEIR OWN PACE AND IN THEIR OWN WORDS, WHICH IN TURN HELPS PREPARE THEM FOR INTERACTIONS WITH MEDICAL PROFESSIONALS. THANK YOU FOR SHARING YOUR REFLECTIONS WITH US!

Comment 2:  While I absolutely agree that the Internet is an important vehicle for getting information and interventions to families, our excitement for this new medium must not allow us to forget the fact that there will be substantial numbers of populations that do not have ready access to this medium for any number of reasons. Direct community outreach and service models will always have to play a role. Incidentally, see the February SMITHSONIAN for an excellent article on the story of tracking of recessive genetic disorders among the Amish and Mennonites that is already having international consequences for prevention, treatment and the reduction of significant developmental disabilities. 1/26/2006

RESPONSE TO COMMENT 2: THIS COMMENT MAKES THE IMPORTANT POINT THAT WHILE E-MEDICINE IS AN EXCITING NEW MEDIUM, BARRIERS TO ACCESS CONTINUE TO LIMIT ITS USE AMONG A NUMBER OF POPULATIONS (E.G., LOW-INCOME FAMILIES, THE AMISH, COMMUNITIES WITH LOW LITERACY LEVELS), AND DIRECT COMMUNITY OUTREACH AND SERVICE MODELS REMAIN CRITICAL FOR SUCH POPULATIONS. THIS WAS TRUE FOR A NUMBER OF FAMILIES IN OUR STUDY. MOREOVER, A FEW FAMILIES WHO HAD ACCESS TO THE INTERNET CHOSE NOT TO USE IT FOR A NUMBER OF REASONS (E.G., FEAR OF MISINFORMATION, FEAR OF BEING OVERWHELMED, LACK OF A DIAGNOSTIC TERM). THE VAST MAJORITY OF FAMILIES IN OUR STUDY, HOWEVER, USED BOTH E-MEDICINE AND DIRECT SERVICE MODELS TO LEARN ABOUT AND OBTAIN SERVICES FOR THEIR CHILDREN. E-MEDICINE WILL NOT REPLACE DIRECT COMMUNITY OUTREACH AND SERVICE, RATHER IT CAN HELP SOME FAMILIES BECOME BETTER INFORMED USERS (AND IN SOME CASES PRODUCERS) OF THEM.

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