Dr. Patricia White-Flatley, co-founder of Research Down Syndrome, a non-profit medical organization, addressed Notre Dame students and members of the local community. In her presentation, entitled “Rethinking Down Syndrome: Revolutionary Research Advances,” she discussed her personal experience with her son who has Down syndrome. White described existing research on the disorder as well as the potential for future treatments, and issued a challenge for Notre Dame students to become involved with research on Down syndrome.
In her presentation, White emphasized that children and adults with Down syndrome are “individuals first.” “Medical conditions,” she said, “do not define individuals with Down syndrome.” Rather, the fundamental premise behind Down syndrome research is respect for life.
White began by describing her own experience with Down syndrome. Despite her familiarity with the condition, she said, “the issue of Down syndrome became real to me when I gave birth to a son with Down syndrome.” At that time, nothing existed to address the problems of cognitive impairment that are the “hallmark” of the disorder. She was then motivated to create Research Down Syndrome to focus on cognitive impairment and the issues it raises for individuals with Down syndrome.
Each year, about 5,000 children with Down syndrome are born in the United States. Until the 1970s, however, the majority of these children were institutionalized. Their life expectancy was only 25 years. Since then, the life expectancy has risen to 55 years, and there are more options for individuals with Down syndrome. This is in part due to efforts by organizations like Research Down Syndrome that raise awareness and educate the public about issues related to Down syndrome.
Nevertheless, there have been many challenges for research through the years. White specifically mentioned the difficulty in finding willing and interested researchers. In addition, many people misunderstand Down syndrome. 90 percent of women who receive pre-natal diagnoses of Down syndrome terminate their pregnancies. Often, White believes, the challenges that the disorder presents are overstated, and the parents are left feeling that they have no other options other than terminating the pregnancy. In Massachusetts, legislatures addressed this problem with the Kennedy-Brownback law, which mandated that parents receive both full and accurate knowledge of the condition and referral to support networks in all cases of prenatal diagnoses.
White said that legislation like Kennedy-Brownback law as well as the results of Research Down Syndrome’s efforts give her hope. The foundation’s research has been investigating the basis for the intellectual impairment of Down syndrome, and looking for potential treatments. Over the course of 5 years, the likelihood of an effective treatment has increased greatly. White hopes to see clinical trials take place soon. Her goal, like that of many parents of children with Down syndrome, is to see “safe and effective, FDA-approved therapies… now and soon.”
There is still a great deal of room for improvement and further advances in Down syndrome research. White, whose husband is a Notre Dame alumnus, believes that the university can contribute greatly to improving awareness and understanding of intellectual impairments. She called upon students in all fields of research to take the initiative in researching Down syndrome. “Nothing would make me happier nor seem more fitting than for the University of Notre Dame to take on this sort of thing,” she said.
Christina Kuklinski is a junior political science major who lives in Pasquerilla West Hall. She apologizes in advance if you were looking for a witty by-line. Contact her to share your disappointment at ckuklins@nd.edu.
