Jacobsen Syndrome Booklet

During the past few years, non-invasive prenatal screening tests have expanded to increasingly more conditions that can cause intellectual disability,and thanks to the Joseph P.Kennedy,Jr.Foundation funding of our new Turner syndrome resource.we have developed a unprecedented workinggroup of representatives from the American College of Medical Genetics and Genomlcs, the National Society of Genetic Counselors,the American College of Obstetricians and Gynecologists, the Eunice Kennedy Shriver National Institute of Child Health and Development,and the Association of University Centers on Disability.With the formation of this group, we want to create additionally medically-reviewed and credible materials for Jacobsen syndrome to bridge the gap between the medical and disability perception for this condition.Jacobsen syndrome causes Intellectual disability for the vast majority of affected individuals,and the advocacy organization has very limited funds and is eagerly looking forward to this opportunity.Importantly,the national advocacy organization (the 11q Research and Resource Group) has already Invited our National Center to present at their conference and host a photography shoot. Our goal over the next year Is to create another book following the format of "Understanding a Down Syndrome Diagnosis." Anticipated activities and outcomes on the grant: • Formation of Medical Advisory Group (first month of funding) • Travel to the Jacobsen Syndrome National ConferenceinSan Diego and photography (June 2016) • Development of Initial draft of booklet for Medical Advisory Group review (third month of funding) • Medical Advisory Group review and feedback (fourth month of funding) Second draft of booklet completed (sixth month of funding) • MedicalAdvisory Group final review and feedback (seventh month of funding) • Final revisions of booklet, Including potential layout and Integration with photography (secured through other funding sources) (eighth and ninth month of funding) • Preparation of digital version for e-publishing/downloading on Lettercase/Natlonal Center for Prenatal and Postnatal Down Syndrome Resources website (tenth and eleventh month of funding) • Final report to the Kennedy Foundation and marketing of resources (twelfth month of funding)