In 2014, Gwyn Theodore was awarded the DSACT Conference stipend.  Gwyn and her family attended the 2014 International Mosaic Down Syndrome Association’s Research and Retreat conference in Williamsburg, VA.

The purpose of the conference was to bring families with all forms of Down syndrome together for support, to hear about current research and to participate in research. There is very little information on Down syndrome and even less on mosaic Down syndrome. In order to better understand both of these syndromes and phenotypes that go along with them, more research needs to be done.

This was the second year we have attended this conference. Our first conference was in 2013 in San Antonio. We participated in executive function research with Dr. Debbie Fidler from Colorado State University. We really appreciated the opportunity and in fact incorporated some of the recommendations into Mark’s IEP. We were very excited to have the support of DSACT to attend the conference in 2014.

The 2014 conference was very successful with the NIH participating along with Stephanie Sherman from Emory, Dr. Michael Harpold from LuMind, Ruth Brown from Virginia Commonwealth University and Dr. Jackson-Cook. We had about 56 families participate in the conference. Many of these families have children with mosaic Down syndrome however there were also families in attendance with loved ones with other forms of Ds.

The first day of this 2014 conference included talks from researchers and research sessions. The second day consisted of fun and relaxation in the pool along with participating in research sessions.

The NIH presented the DS Registry and had stations available to register.

Stephanie Sherman spoke about her research in Intellectual Disabilities, including Down syndrome. Her researchers collected blood and saliva samples to support her research

Dr. Harpold provided the latest exciting update on researcher on Ds that the Lumind Foundation supports.

Ruth Brown spoke about depression in adolescents and young adults with Ds. She collected information from families in order to determine the level of depression in this population during the conference.

Dr. Jackson-Cook’s research team hopes to determine whether telomere lengths or acquired chromosomal abnormality frequencies can be used as a screening tool for the early detection and enhanced treatment of various health conditions, including Downs Syndrome and various human cancers. Her researchers collected blood and saliva samples to support her research. We will eventually receive the results from this test that shows the percentage of trisomy 21 in blood vs. saliva.

We had a great time and truly appreciate all of the support from the DSACT community!
— Gwyn, Dave and Mark