Related Disorders
What Shall We Do Now?
For parents of infants newly diagnosed with Trisomy 18 or 13 The Need for Information at Diagnosis For parents facing decision-making following a prenatal diagnosis or diagnosis following the birth of a son or daughter with trisomy 18 or trisomy 13, information is essential, if informed decisions are to be made. Parents are being asked…
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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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Palliative and Hospice Care
A brief description of Pediatric Palliative Care, Perinatal Palliative Care and Pediatric Hospice Care Pediatric Palliative Care Palliative Care is often recommended for newborns with trisomy 18 or 13 who are able to be discharged from the hospital to home. Palliative care focuses on patient comfort but also allows interventions such as therapies, treatments and…
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Medicaid Waiver, SCHIP, SSI
Medicaid Waiver, SCHIP, SSI, Katie Beckett, TEFRA, etc. Medicaid Waivers Waivers are programs that states can use to test new or existing ways to deliver and pay for health care services in Medicaid and the State Children’s Health Insurance Program (SCHIP). These vary from state to state. Information about these waivers and SCHIP can be…
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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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Medical Ethics and Decision Making
Presentation From the 2010 SOFT Conference in Sioux Falls Presenters: Terry Peterson-Henry, D. O. Pediatric Palliative Care and Ellie Schellinger, MA. Medical Ethicist Medicine, although it is grounded in the scientific method and dependent on changing technologies is, nevertheless, also both personal and intimate. Ethics is the discipline that systematically analyzes and rationally justifies the…
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Developmental Pediatrics and the Medical Home
From the 2011 Chicago SOFT Conference This workshop, presented by Larry W. Desch, MD, FAAP Advocate: Hope Children’s Hospital focuses on the need for special needs children to have a Medical Home. Children with Special Health Care Needs There are children with special health care needs, who are at an increased risk for or who…
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Trisomy 18, Trisomy 13 and Related Disorder Syndromes
Workshop Presentation from the 2011 SOFT Conference in Chicago Presenters: Dr. John Carey and Dr. Jeannette Israel This genetic syndrome overview workshop was presented by Dr. Carey and Dr. Israel, with Dr. Carey presenting some quick genetics of chromosomes, then covering the basics of trisomy 18. Dr. Israel focused on trisomy 13, including translocations, and…
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One Family’s Birth Plan
This birthing plan, for a child with trisomy 18, was prepared by Patricia Lawson, a trisomy parent. Parents: Elliott & Patti LawsonChild: Regan Adeline After our daughter Regan was diagnosed with Full Trisomy 18 at twenty weeks our lives completely changed forever. The emotions you experience are unexplainable – even to your partner who is going…
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