Giving a Face to Trisomy 18: Debbie Elaborates on this Rare Condition Ava, Akaiya, and Annabelle, three little girls with full trisomy 18. The terms “incompatible with life” and “lethal anomaly” are often used to describe trisomy 18 (t18). Would-be parents are strongly encouraged to end their pregnancy when a t18 diagnosis is made. At…

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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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PROFESSIONAL VIEWPOINT:  JOURNAL CLUB Reprinted from the SOFT Times, May/Jun/Jul 2011. Janvier A, Okah F, Farlow B, Lantos JD.  2011.  Ethical Rounds:  An infant with trisomy 18 and a ventricular septal defect.  Pediatrics 127:754-759. When I received my personal copy of the April issue of Pediatrics, my eyes immediately went to the Special Article on…

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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, 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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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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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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New Molecular Diagnostic Methods in Genetics Workshop Presentation From the 2010 SOFT Conference in Sioux Falls Presenter: Patricia Crotwell, Ph.D. There have been advances in genetic testing in which small deletions that the microscope through previous methods could not pick up are now detected. An important advance is a matrix which has 2.7 MSNP, microsnips…

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The Nature of Hope: A Live Interview with the Family of Little Erin Workshop Presentation From the 2010 SOFT Conference in Sioux Falls Presenter: Dr. Lawrence Fenton, M.D Dr. Fenton emphasized that each patient is ill in his or her own way. Physicians and others must remember that underneath the joyous times is bereavement, loss,…

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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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