Posts Tagged ‘Trisomy 13’
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.…
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Trisomy 13 – A Handbook for Families
When your physician first tells you that your baby may have trisomy 13 (Patau syndrome) or that this diagnosis is suspected, you will be overwhelmed with questions. The first question usually is “What is trisomy 13?” This book was written to answer some of these questions, to share insights of parents of children with trisomy…
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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…
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The Care Book (English, Spanish, Portuguese)
Care of the Infant and Child with Trisomy 18 or Trisomy 13 was written for parents who are expecting, living with or remembering a child affected with these disorders. The greater portion of text covers problems and management of care of the live born infant and living child. It has been continually updated as new…
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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…
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Lives Worth Living
Fallible Truths: Presentation made by Dr. McCaffrey
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TRIS Project – Trisomy 13
What is Trisomy 13? It is difficult to find the accurate prevalence data about trisomy 13 (t13). Some studies look to hospital registries while others focus on infants born in a specific state or country. Numbers are extrapolated and figures are shared. The common finding is a bleak one with an emphasis on the presence…
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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…
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TRIS Project
Trisomy 13, Trisomy 18 and related disorders ~ The TRIS Project ~ Tracking Rare Incidence Syndromes The TRIS project provides a means to change perceptions about children with rare trisomy conditions. Through data from TRIS Surveys, new information is available about long-term survival, positive surgical outcomes and achievement of developmental milestones such as using gestures…
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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…
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