The previous section of Chapter 5’s exploration of available supporting resources for new and expectant parents discussed the importance of accurate, up-to-date, balanced resources about Down syndrome. This section describes the three resources identified by major medical organizations to be provided to parents.
Since the initial rollout, the Lettercase booklet has been through regular rounds of revisions to account for new research findings. A study was conducted of women asking them what type of information they would want to receive following a prenatal test result. The survey response tracked the recommendations found in 2011 of what parents want to learn about Down syndrome. Further, it noted that this information was already in existence in the booklet Understanding a Down syndrome diagnosis. But, the study participants said they wanted the information available on-line. Responding to this finding, Lettercase launched a free, on-line version of the booklet.
As the booklet became more used by medical professionals and sought after by expectant couples, another limiting factor was identified: it was published only in English and Spanish. While these are the two main languages for the country where Lettercase publishes, the United States, other organizations in other countries sought wider translation.
The Japanese Down syndrome support association hosted the booklet’s author, Stephanie Meredith, and afterwards worked with Lettercase to publish a Japanese version. A Canadian professional organization funded the translation of the booklet into French Canadian. And, the Washington State Department of Public Health granted money for the translation of the booklet into Somali to provide for the state’s rising immigrants and refugees from that country. The booklet has been translated into Russian, Chinese, Vietnamese, and several other languages, all available for free on-line for parents and providers alike.
My familiarity with this resource goes beyond just my general involvement in the Down syndrome community. Beginning in 2009, I served on an advisory panel for Lettercase as it finalized its initial version and then began negotiations with the national Down syndrome support organizations about its distribution. Additionally, since 2008, I have moderated a monthly call for advocates around the country involved in medical outreach and new and expectant parent support. This call is referred to as the “Informed Decision Making Task Force” or “IDM TF”. Prompted by the IDM TF calls, Stephanie, Nancy Iannone, and Harold Kleinert began to have regular discussion.
Nancy is a legal writing professor at Rutgers Law School in New Jersey and a mom to three, having a daughter with Down syndrome. She, along with Missy Skavlem, also a mom to a daughter with Down syndrome, had moderated the on-line group on Johnson & Johnson’s babycenter.org titled “Downsyndromepregnancy.” The on-line board fielded questions from expectant mothers for years about what it’s like having a prenatal test result and deciding to continue the pregnancy. Nancy and Missy and several other involved moms would respond and link the mothers up with available resources, articles, or general advice.
Out of this collected wisdom, Stephanie Meredith and Nancy co-authored the book Diagnosis to Delivery: A Pregnant Mother’s Guide to Down syndrome. Along with several medical providers, Stephanie and Nancy included me as one of the reviewers.
Having been a father with a post-natal diagnosis, the book provides great insight into the specific concerns expectant mothers have who choose to continue their pregnancy. It has chapters on preparing for a child with a heart condition; setting up available early intervention therapies; how to deal with the increased chance of miscarriage; and, (my favorite), how to deal with comments.
That last chapter addresses several of the many common awkward, rude, and downright bigoted statements expectant mothers report receiving while continuing their pregnancies. It lists these common comments, then suggests a possible response, but then commiserates with the expectant mother by giving voice to what they would really like to say to the rude and offending commenter.
As with Lettercase’s initial booklet, Diagnosis to Delivery, is available in both English and Spanish. Unlike the initial printing of the Lettercase booklet, Diagnosis to Delivery was launched as an online resource and hard copy book available for purchase simultaneously. It remains available for free as a downloadable .pdf at downsyndromepregnancy.org. Several other books and booklets tailored to the expectant mother who is continuing her pregnancy have also been created by Stephanie and Nancy, including: Welcoming a Newborn with Down Syndrome: A New Parent’s Guide to the First Month and Your Loved One is Having a Baby with Down Syndrome.
Also on that monthly call was Harold Kleinert, a professor of special education at the University of Kentucky. Harold is a tall, lanky gentlemen who enjoys a good laugh, letting off a high-pitched cackle. Until the late 20-teens, he had served as the director for the University Center for Excellence in Developmental Disabilities (UCEDD) at UK. He also had a sister with Down syndrome and had served on the board for the Lexington parent support organization, Down Syndrome Association of Central Kentucky (DSACK).
In the early 2000’s, he received a grant to create and test the efficacy of a training module for health practitioners on how to deliver a Down syndrome diagnosis. The program began as a CD-ROM and then upgraded to on-line. It consisted of physicians, genetic counselors, and students role-playing in video clips various scenarios with questions then asked of the viewer of what was done right, what could be done better.
In four separate studies, Dr. Kleinert and his research team demonstrated that physicians, residents, and medical students felt more comfortable giving a Down syndrome diagnosis after going through the training and reported their knowledge about Down syndrome had improved. His team called the project Brighter Tomorrows, available at the website, brighter-tomorrows.com.
After only a couple of the monthly IDM TF calls, Dr. Kleinert reached out to Stephanie and Nancy about combining their resources. Out of this was born the National Center for Prenatal & Postnatal Resources based at UK’s UCEDD, the Human Development Institute. Through the generous funding of the Joseph P. Kennedy Foundation as well as many other donors and the revenue generated from sales of the Lettercase and Downsyndromepregnancy materials, the National Center began to expand its offerings.
Annually, the Center added resources on other prenatally testable conditions, beginning with Turner syndrome, where a girl is born with just one X chromosome, then Jacobsen’s syndrome, a rare micro-deletion on the 11th chromosome (confirm), and adding additional conditions with each passing year.
There are several other helpful written resources available for parents, too many to describe in detail here. Lettercase, Downsyndromepregnancy, and Brighter-Tomorrows are featured here because, at the time of this writing, they are the only ones to be specifically recognized by multiple professional guideline recommendations. In 2013, the American College of Medical Genetics (ACMG) specifically listed just these three resources in its initial statement on cell free DNA screening. In 2011, the NSGC listed the three resources among several others. Finally, and most significantly, ACOG referenced Understanding a Down syndrome diagnosis in its revised statements on cell-free DNA screening.
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