Ch. 5, Part 2: Accurate, balanced, up-to-date information about Down syndrome

In this second section of Chapter Five’s discussion of the available support resources for new and expectant parents of children with Down syndrome, I discuss what every medical guideline recommends and what all parents want–accurate, balanced, up-to-date information–and how the resource providing that information was developed.

For almost all of time, when a physician told a family that their child or their expectant child had Down syndrome, the information provided was entirely verbal, i.e. counseling from the physician, a genetic counselor, or another office staff member. In our instance, the written information our health team provided us was a print out that began “[BABY GIRL] has Down syndrome”—those brackets providing a warm, personal touch to a cold listing of medical conditions associated with Trisomy 21.

Years since Juliet’s birthday, the norm remains that expectant mothers say “I was given nothing” about Down syndrome when they receive a positive prenatal test result. On the other hand, nothing is better than the information other mothers that receive, like Heather Sachs did in the mid-2000’s. Upon the birth of her daughter, her health team gave her a Xeroxed copied handout that had been copied from other copies so many times as to be barely legible, but the handout’s title was clear in large font,

So You’ve Had a Mongoloid: Now What?

Parents receiving a prenatal test result or postnatal diagnosis usually have received pamphlets about the testing the testing laboratories provided free of charge as marketing material in the doctor’s office. Conversely, they receive nothing or outdated materials when the test results are reported positive for Down syndrome. To address this information gap, the Joseph P. Kennedy Foundation funded a project to identify THE gold standard of written information to be provided to patients.

Identifying the “Gold Standard” of written information about Down syndrome

The project brought together executive directors of support organizations, physicians, and involved parents from across the United States. Each attendee brought the materials their organization created or practice used or what they were given. The participants convened in the Washington D.C. area reviewing what was out there.

The result of this project was to identify what was then referred to as the “Canister” booklet after the design company that had created it. The Canister booklet was created by a married couple who had a son with Down syndrome and was being distributed in their local area of Atlanta, Georgia. The booklet contained photographs of children with Down syndrome in their everyday lives, reading a book, playing with friends, participating in activities like ballet classes.

The book’s author, Stephanie Meredith, had a degree in rhetoric and had a career in instructional technical writing. Using her training and experience, Meredith wrote the book at the appropriate grade-level for readers covering topics commonly identified by parents as of interest when finding out their child had Down syndrome.

The Consensus Group

In 2008, Dr. Richard Ferrante and Janice Edwards, a genetic counselor, convened a consensus meeting at the University of South Carolina of interested stakeholders in prenatal testing for Down syndrome. The purpose of the meeting was to get the disparate groups, who often did not talk to one another, together to address the myths they held about each other and identify areas of common ground.

Representatives from the major medical professional organizations concerning prenatal testing, ACOG, ACMG, and NSGC, convened with representatives from Down syndrome advocacy organizations, the National Down Syndrome Society (NDSS) and the National Down Syndrome Congress (NDSC). When the groups reconvened for a five-year lookback in a panel discussion at the National Society for Genetic Counselors, the meeting was described as “tense.” At least, at the beginning.

Each group arrived with a preconceived view of who they considered the “other side.” These preconceptions would be referred to as “myths” after the various representatives discussed them. Myths such as Down syndrome support organizations are pro-life groups and that genetic counselors favor prenatal testing as a way to improve the genetics of the next generation.

Through the course of dialoguing with one another, each group came to understand the other as more fully-formed individuals and agendas. Down syndrome support organizations represent families from across the nation and therefore represent families who hold beliefs across all political, religious, and social spectrums. Representatives of the medical organizations that set the guidelines do not recommend offering prenatal testing in an effort to institute a less formal eugenics program, but instead view prenatal testing as providing information that many of their patients find valuable.

One of the measures the Consensus Group identified as needed for the responsible administration of prenatal genetic testing was accurate, up-to-date, balanced information about the tested for conditions. With representatives of the Down syndrome organizations having already identified the Canister book as THE book on Down syndrome for families receiving a test result, the medical representatives of the Consensus Group then reviewed it.

The medical professionals suggested leaving out the discussion on prenatal testing, itself, as the book would be given following a decision on whether to have prenatal testing. They also recommended that since the book covered continuing a pregnancy and the option of adoption that it should also address the other option of terminating the pregnancy. This final addition would have devastating unintended consequences that will be covered in the last chapter.

The Lettercase Book: A Lifeline

The suggested revisions were made. In 2010, at the Down Syndrome Affiliates in Action conference in Dallas, Texas, a panel presentation that I participated in, unveiled the new consensus booklet on Down syndrome.

This time it was under the imprint of Lettercase. On the back cover it listed each member organization of the Consensus Group as having provided input into the book. It was a high point for advocates concerned about what the future held for prenatal testing for Down syndrome. The need for this resource had been identified not just by the Consensus Group, but by multiple peer reviewed articles that found an information gap in the administration of prenatal testing.

Finally, the Lettercase booklet, Understanding a Down syndrome diagnosis, had the imprimatur of all the major medical organizations and national Down syndrome organizations. It represented the up-to-date, accurate, balanced information that all agreed women receiving a prenatal test result should receive.

The distribution of the booklet took off in the first year after its issuance. Local Down syndrome organizations across the country bought cases of books to hand out to their local medical community. Departments of health and other health systems ordered it. Physicians could order a free copy. And dozens were handed out at exhibit booths at medical conferences across the country (oftentimes by myself or by Stephanie, the author).

When families received the booklet, it was received with gratitude. The booklet would become referred to by many as a “lifeline.” At the time an expectant mother receives the most shocking news of her life, about a condition she knew little about and what little she did was not positive, looking at the pictures, reading the information, learning about the available support she and her family could have, provided her the first opportunity to have hope.