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Monday, July 30, 2012

Our Trisomy Community Has a Voice

Our Trisomy Community Has a Voice...
Children with Trisomy 13 and 18 and Their Families are Happy!

On 7/23/2012, a precedent-setting study was published in PEDIATRICS – the official journal of the American Academy of Pediatrics. The study consists of 503 invitations sent to families using social networks as support systems in the care and management of their trisomy 13 or 18 child.  An amazing 332 questionnaires were returned (87% response rate) representing 272 trisomy 13 or 18 children. I am proud to be one of those families!  

Why is this precedent-setting? 
  • First of all, there are NO OTHER studies of trisomy 13/18 children represented by such a large sample group! 
  • Second of all, this study will challenge the medical community to rethink how they manage families facing a diagnosis like trisomy 13 or 18.  

My personal hope is that the medical community will also start partnering with the real experts on trisomy – the PARENTS – to help make decisions in the care and management of future trisomy children. We are bringing together families worldwide through social networking, and working together to create resources that will give families the information they need to make informed decisions about their trisomy children. Some of this information is based off of the small number of medical studies (with small sample sizes) that have already been published on trisomy 18 and 13 children. But the majority of it comes from the actual experiences of hundreds of parents and family members involved in the direct care of a trisomy child. Some of this information is already being captured (and has been for years) through a project called TRIS (Tracking Rare Incidence Syndromes) and through the annual conferences and medical information collected through SOFT – Support Organization for Trisomy 18, 13, and Related Conditions. There are also several social networking groups on facebook and nonprofit trisomy organizations working together to create a Parent Experiential Database to summarize much of the knowledge learned and shared between trisomy parents dealing with complex health issues. The beginnings of this parent database will be captured by the end on 2012 on  We hope this will also inspire the medical community to do more studies on our children, and to change the view that trisomy 18 and 13 children are incompatible with life and not worth the time or effort to give compassionate and potentially life-saving care.

As for the Pediatrics-published study, one of the most well-published academic neonatologists in the world (and a true humanitarian) posted about the study on his neonatal research blog. He offers EXCELLENT ADVICE (and a little criticism) to his colleagues. 

And here is just a brief look at how this new study has affected the news...

The Most News Seen on Trisomy 18 or 13 in Such a Short Time!
These are just a few of the pages and pages of references to the Pediatrics-published study...  
  • The Canadian Press – Toronto (7/23/12): Parents of babies born with disabling anomalies report they enrich families
    “This study should have us stop and think about what decisions, for which children, have been made on the basis of misinformation,” says Francoise Baylis, a professor of bioethics and philosophy at Dalhousie University in Halifax. “The negative narrative needs to change. Parents’ experiential knowledge matters and should be available to expectant parents and new parents.”   
  • Daily RX(7/22/12): Trisomy 13 and 18 children and their parents lead rewarding lives
  • Deseret News(7/27/12): Parenting Severely Disabled Kids Can Be a Great Source of Happiness 
    "Regardless of the length of their lives, children with trisomy 13 or trisomy 18 — a chromosomal abnormality that can cause shortened lifespans and severe disabilities — not only led happy lives, but enriched the lives of their families, according to a new study published in the journal Pediatrics July 23."
  • EurekAlert! (7/23/12): Children with trisomy 13 and 18 and their families are happy – Quality of life perceived by parents is better than that predicted by physicians
  • Europe Med (7/25/12): Children With Trisomy 13 and 18 Are Happy Despite Poluar Beliefs
  • Fox News (7/23/12): Parents, docs may clash on quality of kids’ lives
  • HuffPost Living CanadaT13,T18 Babies Born With Congenital Anomalies Reportedly Enrich Families
    "A new Canadian study drawing on the experiences of parents paints a dramatically different picture than that in medical literature of the short lives of infants born with the congenital anomalies Trisomy 13 and Trisomy 18.Medical textbooks are grim and bleak about babies born with genetic codes considered "incompatible with life." But the study says parents who have these children speak of the joy found in what is almost inevitably a short lifespan. These children, they say, can enrich a family rather than destroy it."
  • JAAPA (Journal of the American Academy of Physician Assistants) and MPR (Monthly Prescribing Reference)(7/23/12): Study Examines Effect of Trisomy 13, 18 on Families, Providers
  • Medical News Today (7/24/12): Children Eith Trisomy 13 and a8 Are Happy Despite Poluar Beliefs
  • Medline Plus (7/23/12): Parents of Severely Disabled Kids Say They Enrich Their Lives 
  • Montreal Gazette (7/25/12): Parents of kids battling rare disorder Trisomy 13 fight back – Doctors take approach to condition, they say
  • Neonatal Research blog - Dr. Keith J Barrington (neonatologist and clinical researcher and chief  of service at Sainte Justine University Health Center in MontrĂ©al.): “Our children are not a diagnosis”: the family experience of trisomy 13 and 18  Dr. Barrington includes a list of guidelines that neonatologists should follow. "This study points out the uniqueness of each of these children and the heterogeneity of condition and survival. They emphasize that we cannot be definite about the duration of survival or the capacities of an individual. They conclude: Parents who engage with parental support groups may discover an alternative, positive, description about children with T13-18. I conclude; we need to rethink how we present diagnoses of serious conditions to parents." Science Daily (7/23/12): Children With Trisomy 13 and 18 and Their Families Appear Happy
  • Seattle Children's Hospital (7/24/12): Social Networks Serve as Source for Parents  "Mildred Bay initially found some solace and information via social networks.  A pediatrician by trade, Dr. Bay was a resident at Seattle Children’s and now works at Peninsula Children’s Clinic.  Lucy, 3 and one-half months old, has trisomy 18.  Dr. Bay said hearing that diagnosis was a complete shock. ...  “I would look at various blogs and websites, and learn about what other families’ experiences were like.”  Many families have very intense but ultimately very positive experiences with their children despite the diagnosis, she found.  “As a pediatrician, and having worked at Seattle Children’s, I knew kids with complex medical issues.  The road is hard, but not unmanageable if you have the right support.”"  
  • Suite 101 – Pregnancy & Childbirth (7/25/12): Raising a Child with a Disability – Parent’s vs Physician’s View 
  • US News & World Report (7/23/12): Parents of Severely Disabled Kids Say They Enrich Their Lives – Families dealing with trisomy 13-18 face grim predictions, turn to online support, study found  "When Vanessa Hernandez's sixth child was born, she knew right away her daughter was different.Hernandez's pediatrician wept as she told her the diagnosis. The baby had trisomy 13, a devastating chromosomal abnormality. Most children die before their first birthday and have serious mental and physical disabilities, including heart and breathing problems....according to the study in the August issue of Pediatrics. Many parents -- 87 percent -- were told their child's condition was "incompatible with life," 57 percent were told their child would live a life of suffering, 50 percent were told their child would be a "vegetable" and 23 percent were told their child would "ruin their family." The medical community, including the American Academy of Pediatrics Neonatal Resuscitation Program textbook, recommends against resuscitation for trisomy 13 and 18." 
  • Washington Post (7/23/12): Varying views on Trisomies 13 and 18

More on Barb Farlow's Story: 
Barb Farlow is one of the co-authors of this amazing study.  I am extremely privileged to know Barb. She is such a tremendous resource to the trisomy 13 & 18 communities. Her story about her T13 daughter is worth the read! She is an amazing woman and mother, and an incredible advocate for our children.  

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