Development of Prenatally-Diagnosed Condition Booklet

During the past few years, non-invasive prenatal screening tests have expanded to increasingly more conditions that can cause intellectual disability, and none of these conditions have up-to-date, accurate, balanced, and medically-reviewed materials on the level of our “Understanding a Down Syndrome Diagnosis” book. As more families are learning prenatally about these conditions, it is becoming increasingly essential to have resources that address their fundamental concern, “What is life like for a person living with 22q deletion syndrome or Turner syndrome or Jacobsen syndrome?” Some of the conditions are so rare that even most clinicians have no idea what medical issues accompany the condition — much less the lived experience of individuals. Our goal over the next year is to create another book following the format of “Understanding a Down Syndrome Diagnosis.” A $10,000 grant will allow us to develop the written content for a book about another condition that can cause intellectual disability and that can be detected with the new non-invasive prenatal screening tests, traditional quad screening, or amniocentesis/CVS, such as Turner syndrome, Trisomy 13/18, 22q deletion syndrome, 11q or Jacobsen syndrome, or spina bifida. Our plan is to supplement this grant with by applying for another $10,000 in funding from the Human Development Institute’s Endowment for Excellence that will provide the resources to produce the photography for the book. We will select the condition based on a number of combined factors, including 1. Accessibility to diverse photography subjects; 2. Potential positive collaboration with advocacy groups/academic experts; 3. Accessibility to psychosocial resilience research about the condition; 4. Prevalence in the population; 5. Informational needs about the condition based on the current resources available or lack thereof. 6. Accessibility to a consensus group about the condition. Funding from the Kennedy Foundation will be acknowledged in the front matter page of the book for the significant contribution and dedicated to Eunice Kennedy Shriver, and the book will be added to our library of resources on the website as a digital download. We will also seek funding for print distributions as we have done with our Down syndrome materials to send them out to medical providers in resource packets. We will also seek funding to make printed books freely available to requesting medical providers. In addition, we will work closely with the genetics organizations so that links to the materials can be shared on their websites. Anticipated activities and outcomes on the grant: 1) Selection of a condition based on the five factors above (first month of funding) 2) Formation of Medical Advisory Group (second month of funding) 3) Development of initial draft of booklet for Medical Advisory Group review (fifth month of funding) 4) Medical Advisory Group review and feedback (six month of funding) 5) Second draft of booklet completed (eighth month of funding) 6) Medical Advisory Group final review and feedback (ninth month of funding) 7) Final revisions of booklet, including potential layout and integration with photography (secured through other funding sources) (tenth and eleventh month of funding) 8) Preparation of digital version for e-publishing/downloading on Lettercase/National Center for Prenatal and Postnatal Down Syndrome Resources website (eleventh and twelfth month of funding) 9) Final report to the Kennedy Foundation (twelfth month of funding)