Woman with brown hair smiling at the camera

Medical outreach in action!

Stephanie Meredith is going to be busy soon. 

Meredith, HDI’s Medical Outreach Director, has been invited to be a part of several medical conferences in the US and Canada starting this month and continuing until April. 

In February, she travelled to and presented at the Down Syndrome Affiliates in Action Conference in Dallas, Texas, and she hopes to follow that with presentations at USC Columbia genetic counseling student cohort, the American College of Medical Genetics and Genomics in Toronto, the sixth congress on the ethical, legal, and social implications of genomic research in New York City and the International Society for Prenatal Diagnosis in Boston.

She will also be representing HDI at the American Academy of Developmental Medicine and Dentistry’s One Voice Conference in Chicago, and the Disability Policy Seminar in Washington D.C. 

With so many conferences in so many places, Meredith has a lot of opportunities ahead of her, and she’s excited to take advantage. 

Meredith is experienced in delivering the types of talks she’ll be giving in these conferences and has a different approach for each audience. 

“When I talk to the advocacy organizations, I’m teaching or training them on how to be methodical and diplomatic,” she said. “Are you actually capturing those families with Down syndrome in your area who have babies being born? How do we figure out whether you are or not? And where are your gaps? And I’m going to be talking about how to support families who have Black and Hispanic children with Down syndrome. We recently completed a research study that found that there was some implicit and explicit bias in those conversations.”

Stephanie will also be working on how to help medical professionals build up their best practices. 

“I talk about some of the ways in which bias can be present in conversations and what they can do to make those diagnosis conversations more supportive to families and also more equitable in how they talk about disabilities,” she said. “They’ll say, ‘Oh, I’m so sorry, your baby has this condition,’…we don’t need to frame it as bad news. It is likely unexpected news, but it’s not inherently bad news.”

She’s particularly excited to present to the American College of Medical Genetics and Genomics, where she will share the stage with some experts on disability and ethics, many of whom have disabilities themselves. 

“I’m even more excited that my colleagues are sharing their perspectives too,” she said. “I think that it’s really important, especially for geneticists and with the history of some of the discrimination against people with disabilities in genomics.”

Not only does Meredith have the opportunity to share her knowledge and help lift up others with lived experience, she also has the chance to experience a lot of different places in the process. It’s a great chance to travel and learn about new places and people. While she’s excited to see new places and try some new foods, she is also knows that traveling gives her the chance to learn more about the people she needs to work with. 

“When you’re doing community engaged work, it helps to have those personal relationships with people,” she said. “Sitting down and breaking bread with people and being in the place where they live helps you to have closer connections and a greater appreciation for what they’re dealing with.”

Mother and father with a baby with Down syndrome

UK Human Development Institute Resources Formally Recommended by American Academy of Pediatrics for Families of Infants with Down Syndrome

In a clinical report released on April 18, The American Academy of Pediatrics recommended resources administered by the University of Kentucky Human Development Institute to pediatricians across the nation. These resources are recommended to be distributed by pediatricians to families learning about a prenatal  diagnosis of Down syndrome.

The report directs medical providers to Lettercase: National Center for Prenatal and Postnatal Resources, which has been housed within the Human Development Institute since 2012. Lettercase offers both print and digital resources that provide “accurate, balanced and up-to-date information for new and expectant parents learning about a diagnosis of Down syndrome and other genetic conditions,” according to the program website at lettercase.org.

“The guidelines in this report are really the definitive recommendations for pediatricians,” said Stephanie Meredith, director of Lettercase. “So to be included in that, especially when there are just a handful of resources listed… It’s just a real honor.”

The Lettercase “Understanding a Down Syndrome Diagnosis” book was originally developed in 2008 by Meredith and her husband, Justin. Harold Kleinert, who was, at the time, Human Development Institute Executive Director, was the principal investigator of Brighter Tomorrows, a grant funded through the U.S. Center for Disease Control Cooperative Agreement with the Association of University Centers on Disability (AUCD) to improve physicians’ capacity to provide accurate information to families upon the diagnosis of Down syndrome in their child. Brighter Tomorrows, which is also listed in the American Academy of Pediatrics report as a resource for families, has now merged with Lettercase as one national center.

Meredith and Kleinert had a vision of the societal need they could begin to meet by bringing their resources together. Generally, according to Meredith, grant-funded programs have a natural shelf life, as grants come with finite funding usually dispensed over a set number of years; so while Brighter Tomorrows was initiated through a two-year development grant and a subsequent one-year national dissemination grant Meredith and Kleinert found funding for Lettercase through book sales and various other revenue streams.

“It was kind of this piecemeal hardscrabble program, but we’ve made it flourish,” said Meredith. “It’s been a labor of love for [the Human Development Institute] and the Joseph P. Kennedy, Jr. Foundation to support this program, because it was definitely driven by wanting to meet a need that families have, as opposed to just fulfilling the cut out terms of a grant… We figured out a funding structure because we believed in the purpose of what we were doing.”

The Human Development Institute is part of a nationwide network of University Centers for Excellence. The inclusion of the Human Development Institute in the American Academy of Pediatrics report positions the institute as a leading national resource. For Lettercase resources, click here. For more information on the Human Development Institute, click here.

Six people in a group

The Intersection of Genetics and the Disability Rights Movement

HDI’s Medical Outreach Director, Stephanie Meredith, and colleagues, Dr. Kara Ayers Associate Director of the University of Cincinnati UCEDD; Dr. John Constantino, Director of the Washington University in St. Louis Intellectual and Developmental Disabilities Research Center, Dr. Igna Van den Veyver a leading Maternal Fetal Medicine Specialist from Baylor College of Medicine; Katie Stoll, Executive Director of the Genetic Support Foundation; and Dr. Marsha Michie, an anthropologist from Case Western Reserve University presented on the intersection of disability and genetics at the annual American Society of Human Genetics meeting in Houston, TX on Friday, October 18. This presentation was made possible by ASHG, in collaboration with the Association of University Centers and NICHD.
Approximately 300 medical professionals attended this session that discussed the value of technology, the need to remember the patients at the other end of tests, and the prioritization of our collective humanity. “Nothing About Us Without Us!”, was a core message of this presentation that identified tools and strategies to provide a forum for the voices of people with disabilities and their families, in conversations about genetics and medical practice. The meaningful dialogue focused on how to intentionally include the perspectives of people with genetic conditions (and their families) when creating guidelines and public policy–and to make that happen by acknowledging the painful history of stigmatization and abuse endured by people with disabilities throughout history and then building relationships with the medical community and putting humanity first. Continue reading

Parents with baby with Down syndrome

Fall Research Brief 2019

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations in providing patient education resources
Research Brief by Stephanie Meredith & Mark Leach

Cell-free DNA prenatal screens (also known as NIPS or NIPT) were released in the US by commercial labs eight years ago as screening tests for conditions such as Down syndrome, Trisomy 18, and Trisomy 13. When these screens were originally released in 2011, they were largely covered in the media as non-invasive prenatal diagnostic tests that could detect conditions with a simple blood draw. However, even though cell-free DNA noninvasive prenatal screens are more sensitive than traditional screening tests, there are still chances for false positives and, less often, false negatives. Therefore, they are considered screening tests and are not actually diagnostic (Mozersky, 2012). The introduction of this new technology and some of the confusion surrounding it prompted national medical and genetics societies to issue guidelines about the administration of these screens. Continue reading

Updated “Understanding a Down Syndrome Diagnosis” book Available Now

The nationally recommended book for new and expectant parents learning about Down syndrome, Understanding a Down Syndrome Diagnosis, from the Lettercase National Center for Prenatal and Postnatal Resources at the University of Kentucky’s Human Development Institute, has been recently updated with unprecedented collaboration from leading experts across the nation to improve the diagnosis experience for families.  Continue reading