DSAA Moms enjoyed a great and informative night at the DSAA Mom’s April Event! Dr. Stephanie Sherman, a professor in the Department of Human Genetics at Emory University in Atlanta, spoke on genetic research and latest developments. Her training is in the area of genetic epidemiology and she has been involved in the coordination of multi-site projects to unravel the genetic architecture of complex traits and to understand potential gene-environment interactions. Currently, she is involved in research to understand the causes and consequences of Trisomy 21, or Down syndrome. She is also the co-Director of the Down Syndrome Center at Emory University.
NOTE: the genetic research discussed is NOT to eradicate Down syndrome or stop the triplication of the 21st chromosome during conception. It focuses on how to improve the lives of individuals with Down syndrome as well as understanding better the medical conditions that those individuals with Down syndrome are at a higher risk for (Alzheimer’s being an example).
Some highlights from our discussion:
MIT recently announced the $28.6 million gift from the Brazil-based Alana Foundation to establish the Alana Down Syndrome Center will combine the expertise of scientists and engineers in an effort to increase understanding of the biology and neuroscience of Down syndrome. The center and an associated technology-development program will work to accelerate the generation, development, and clinical testing of novel interventions and technologies into the disorder.
The National Institutes of Health has awarded $22.2 million in supplemental funding to bolster support for Down syndrome research ranging from basic to clinical. The investment is part of the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down SyndromE) project, which was launched in June 2018 in response to a Congressional directive to develop a new trans-NIH initiative to investigate critical health and quality-of-life needs for individuals with Down syndrome.
“We have a unique opportunity to improve health outcomes for those with Down syndrome by increasing their inclusion in research,” said NIH Director Francis S. Collins, M.D., Ph.D. “People with Down syndrome are at risk for many of the same conditions as the general public such as Alzheimer’s disease, sleep apnea, heart disease, and autism, and it is my hope that this effort will provide meaningful insights to find treatments that benefit both populations.” INCLUDE’s research strategy is distinct in that it seeks to improve the health of people with Down syndrome, while simultaneously investigating the risk and resilience factors for common diseases shared with individuals who do not have Down syndrome.
Earlier this month Dr. Amy Talboy from the Emory Down Syndrome Clinic came to our mom's night out group. She spoke to the moms about the importance of sharing all information with your child's doctors. For example, Supplements are very commonly used by moms but many have potential adverse side effects, as well as possible interactions with medication or other supplements. Examples of supplements include (but are not limited to) vitamins, probiotics, and natural herbs.
Dr. Talboy explained that we need to be aware of all of the ingredients, their doses compared to daily recommended doses, known possible side effects, and how they are expected to affect the body (positive or negative). It is important for parents to research and ask what is in the supplements to avoid more serious issues, such as liver problems, or effects on bleeding. Dr. Amy Talboy is available to offer guidance when choosing supplements.
Visit the Emory Down Syndrome Clinic.
Assistant Professor, Department of Human Genetics and Pediatrics, Emory University SOM
October is Down Syndrome Awareness month and there are plenty of opportunities to raise awareness, support your local Down syndrome organizations, advocate and learn!
It all begins with the 21st annual Buddy Walk Atlanta on Sunday, October 6 at Atlantic Station! If you haven't registered, we encourage you to do so in advance and if you cannot attend this year, please consider making a donation. Get all your Buddy Walk information here.
On Wednesday, October 10, join the National Down Syndrome Congress at GiGi's Playhouse Atlanta to learn more about how to save money and protect your child's financial future with Georgia STABLE.
On Thursday, October 11, attend the Georgia Council on Developmental Disability's Candidate Forum on Disability Issues and hear from candidates running for the offices of Secretary of State, Superintendent of Schools, and State Insurance Commissioner as they speak on issues important to the disability community. Register for GCDD Candidate Forum here.
Then on Saturday, October 27, attend the Georgia Down Syndrome Consortium's Learning Summit at KSU! The cost is $50 per person and includes the conference, materials, lunch, and parking. Register for the Learning Summit here. Sessions include:
Health & Medical Updates
- Hearing and ENT Issues
- Sleep Disturbances
- Toilet Training & Hygiene
- Congenital Heart Issues – short & long term considerations
Transitions & Long-term Goals
- Long-term Financial Planning
- Transitions for Teens & Adults – Health & Well-being
- Employing Individuals with DS
Maximizing Independence – Parenting for Independent Living
Resources, Programs & Ongoing Support
- Community Supports, Waivers & Public Systems
- Family Support & Benefits; Georgia Trust
- Programs & Resources for Spanish Speaking Families
- Sibling Panel – Ongoing Support Systems
Technology & More
- Tools For Life
- Inclusive Congregations
- Sports & Recreation
Update on Down syndrome Research
time to learn lifesaving skills such as CPR and first aid; check your insurance policies and coverage for flood, earthquakes, and tornados; replenish or stock go bags and other emergency supplies; create or review your disaster plans. When disaster strikes, it is important you have planned what steps to take and reviewed them with your family.Read more
We would like to invite your company to be a part of the Down Syndrome Association of Atlanta’s (DSAA) 21st Annual Buddy Walk®, a celebration of the abilities and accomplishments of individuals with Down syndrome.
The Buddy Walk® (BW) was established in 1995 by the National Down Syndrome Society (NDSS) to celebrate Down Syndrome Awareness month in October and to promote acceptance and inclusion of people with Down syndrome. The Buddy Walk is a day filled with fun family activities and it gives the families time to meet other families in similar situations. It is also a day to celebrate the accomplishments and abilities of individuals with Down Syndrome in our community.
Funds raised from past Buddy Walks have been used to fund a number of DSAA programs, including assistance to new parents; educational seminars; social events; monthly networking groups for moms and dads; and education materials and resources to the community. Last year, DSSA was a founding member of the Ga Down Syndrome Consortium which includes: Gigi’s Playhouse, Emory Down Syndrome Clinic, The Adult Disability Home and The National Down Syndrome Congress. This consortium will help us to serve the community in a more unified way. In the long run this will benefit the individuals that we serve in the most positive way.
Being a Buddy Walk sponsor is a great opportunity for your company to get recognition for supporting a worthy cause!
The Down Syndrome Consortium consists of the DSAA, GiGi's Playhouse Atlanta, the National Down Syndrome Congress, the Emory Genetics Clinic, and the Adult Disability Medical Home. These organizations have committed to working together on various initiatives with the goal of bringing one strong voice of advocacy and awareness for Down Syndrome. Check out its progress!Read more