Posts Tagged ‘Related Disorders’
2021 SOFT Trisomy Awareness Month Video Blast
Join us for the Trisomy Awareness Month video blast! The Trisomy Awareness Month video blast is coming and we hope you will join us. We are going to blast social media with short 60 second videos to inform and educate people about our SOFT kids and their various Trisomy conditions. We invite all of…
Read More
Video – Shining moments from the TRIS project
The first of a series of videos from the SOFT 2020 Virtual Conference. Deborah A. Bruns, Ph.D. shares shining moments from the TRIS project: An overview and review of activities with Deborah A. Bruns, Ph.D. About Deborah A. Bruns Ph.D:Deborah A. Bruns is Professor and Off-campus program coordinator for the Special Education program in the…
Read More
Video – Constipation 101
If you get any two or more parents of children with Trisomy together the conversation will inevitably turn to the subject of constipation. Constipation is one of the most common health issues that families of a child with a diagnosis of Trisomy 18, 13 or other related disorder face. Managing your child’s bowels becomes a…
Read More
Attitudes Toward Hypothetical Uses of Gene-Editing Technologies
The following paper is an interesting article published recently in The CRISPR Journal. The main author, Erika Snure Beckman, performed this work for a Master’s degree while a genetic counseling student at Stanford University. She and her colleagues analyzed the views of parents of persons with trisomy 21, trisomy 18, and trisomy 13 syndromes toward the new gene-editing technologies. The…
Read More
Medical Providers May Not Deny Medical Care Based on Disabilities
The New York Times reports: “Federal civil rights office rejects rationing medical care based on disability or age.” The U.S. Department of Health and Human Services’ civil rights office told medical providers on Saturday that they may not deny medical care to people on the basis of their disabilities or age during the coronavirus emergency.…
Read More
Perspectives on the Medical and Genetic Aspects of the Trisomy 18 & 13 Syndromes
Presented at the 2012 SOFT Conference, St. Louis Dr. Carey began by saying questions were welcomed. He also noted most participants were familiar with the basics of trisomy, so he would emphasize new information. The result was he completed about 10% of his forty prepared slides. The order of information that follows reflects the questions…
Read More
2018 ACMG Conference
SOFT was represented at the 2018 ACMG (American College of Medical Genetics) Conference held April 10- 14, 2018 in Charlotte, NC. SOFT Attendee: Dr John C Carey, Medical Geneticist and Pediatrician, Primary Children’s, SLC, UT – SOFT Medical Advisor SOFT member exhibitors: Ann & Frank Barnes, parents of Megan (T18) 1985-2004 Rhonda Yarrington & 3…
Read More
TRIS – Trisomy 9
What is Trisomy 9? When I started on my trisomy journey, my reference point was children with trisomy 18. In the 1990’s, I found very little information about medical conditions, developmental needs and pretty much anything about growth and potential. Fast forward to the 2000’s and beyond, and what a difference. Information is at my…
Read More
TRIS Project – Rare, Rare Disorder
What is a “Rare Rare” Genetic Condition? It is interesting to note the prevalence of conditions such as trisomy 18, 13 and 9 vary between one in 5000 to 9000. This translates to a low incidence and, oftentimes, corresponding negative views on medical interventions and beliefs about a minimal quality of life. Yet, there is…
Read More
What Does “Rare” Disorder Mean?
PROFESSIONAL VIEWPOINT: Journal Club All of us at SOFT and the trisomy 18 community worldwide were saddened by the news of the two hospitalizations of Bella Santorum, daughter of Republican Presidential candidate, Rick Santorum, that appeared in various media sources in 2012. Most of these stories mentioned or made reference to trisomy 18. One of…
Read More
