Dancing in the Rain
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A Trisomy 18 Journey

Life is not about waiting for the storm to pass. It's about learning to dance in the rain. -- Vivian Greene

Wednesday, March 12, 2014

A Look at the Experiences of Trisomy Families in the Medical Literature

In today's post I will summarize an important article to our community entitled "The Experience of Families with Children with Trisomy 13 and 18 in Social Networks." It was published in the well-known medical journal, Pediatrics, in July 2012. One of the authors is a trisomy parent herself. There are a lot of numbers cited in the study but let me highlight a few:

99% of parents of children living with trisomy 13-18 describe their children as happy.
98% of parents report that their children with trisomy13-18 enriched their lives.

These are not statistics that one would see anywhere else. This is the first study of its kind in trisomy families. Please continue for a more extensive look at the article.

The Experience of Families With Children With Trisomy 13 and 18 in Social Networks
Annie Janvier, Barbara Farlow and Benjamin S. Wilfond
Pediatrics; originally published online July 23, 2012;
DOI: 10.1542/peds.2012-0151

Trisomy 13 and 18 are viewed as lethal conditions due to their high morbidity and mortality. A low percentage, 6-12%, survive past one year of life. Because of this, the American Association of Pediatrics Neonatology Resuscitation  textbook and that American Heart Association recommend against resuscitation for these conditions. Parents who continue their pregnancies may request that such interventions be made at birth which in some cases is met with resistance or negative responses from physicians. Finding little support in the medical community, parents may turn to social networks to learn from the experience of other families. These groups provide resources, photos, and support to trisomy families. The information from these groups can seem at odds with the information given by the medical community as a whole.

Study Objective:
The objective of this study was to describe the experiences of parents who are members of social networks and who have (had) children with trisomy 13-18. The authors hope that this results in better communication between parents and their physicians in regard to caring for their children with trisomy 13-18.

A computer questionnaire was sent to 503 individuals who were identified through one or more of 18 English speaking websites or Facebook groups associated with t13-18.

Three hundred thirty-two parents (of 272 children) completed questionnaires for the study. To be included in the study, participants had to be a parent of a child who lived/lives with trisomy 13-18 including full, mosaic, partial, and translocations. Families who experienced in utero deaths were not included. Incomplete questionnaires as well as those completed by persons other than parents were excluded. Most respondents were from the US (76%), followed by the UK (9%) and Canada (8%), and 7% from other countries. Of the 332 parents, 74 were fathers and 258 were mothers. For sixty children, both parents responded. The median age of the mothers at the time of the birth of their child with t13-18 was 33 years. Respondents were well-educated with 68% having at least one college degree and 25% having postgraduate degrees. 89% of parents claimed to be religious including 37% who did not attend religious services.

216 of 272 children had/have full t13-18. Forty percent survived past one year and 37% were still living at the time of publication. Survival to age five was 21%. Of the 79 still living, 96% with t13 and 91% with t18 are greater than one year.

Of the 216 children with full t13-18, 25% received full intervention at birth and 50% received comfort care. In the full intervention group, one-third died before hospital discharge, 36% died before the age of three months, and one-half lived past one year. In the comfort care group, one-third died before hospital discharge, one-half died before three months of age, and one-third lived past one year.

Cardiac abnormalities are a common comorbidity of trisomy 13-18. 146 children in this study had cardiac malformations. Twenty-five received cardiac surgery. Of those, twenty-one children lived more than one year post-surgery and ten lived more than five years post-surgery.

Children with t13-18 who were living at home were found to have various medical needs. One child had a tracheostomy with ventilator support. Fifty-four percent were on supplemental oxygen as needed and 11% received full time oxygen support. Fifty-nine percent had a gastrostomy tube (g-tube) although not all were exclusively fed through their tube. Ninety-five percent of parents surveyed reported being able to communicate with their child and to understand their needs. When parents were asked to describe their child living with t13-18, 99% described their child as happy. Over fifty percent of parents with children living with t13-18 reported that taking care of their child with significant medical need was more difficult than expected. Forty-four percent of parents with a child who lived more than one year state that the financial sacrifices required were very challenging.

In the families of children who died (187 parents surveyed), 89% reported that the overall experience of their child's life was positive. Ninety-eight percent of parents reported that their child enriched their life. Eighty-two precent felt that their child had a positive impact on siblings. In relationship questions, 3% responded that their marriage dissolved and 68% reported a positive effect on their relationship.

Most parents met with a specialized health care provider (63%) who helped them but 37%  of those who chose clinical interventions report feeling judged. Upon receiving a diagnosis of trisomy 13-18, parents report being told by their physicians and geneticists that children with these conditions are incompatible with life (87%), that their lives will be full of suffering (57%), that their child will be a vegetable (50%). They report they were told that their families would suffer (23%). Conversely, 60% report being told that their child would have a short but meaningful life, that their child could live many years (43%), or that their child could enrich their lives (16%).

Although most parents describe their child as having significant neurodevelopment disabilities, almost all report that their child has had a positive impact on their lives and that their child is happy. When children died, parents viewed their lives as valuable. Financial challenges were present however, as was the report that children with t13-18 experience more pain than other children.

Even among this cohort, parent decision making varied from full clinical interventions to comfort care and many in-between the two endpoints. Approximately the same percentage of children in the full intervention group and the comfort care group died before hospital discharge and before three months. A slightly higher percentage in the full intervention group survived to one year.

The results suggest that the parental experience of having a child with t13-18 differs in several areas from the conventional view in the medical community. Families report stronger relationships instead of weaker ones. They report happy children instead of suffering children. They report communication and understanding with their children instead of finding their children to be vegetables. Often, quality of life becomes a determining factor in choosing the level of clinical interventions for these children. This is a subjective area and considering the differences in how parents and health care providers view these children, effective communication between parents and physicians is vital. The parents input and wishes must be considered.

The authors conclude that "Parents of children newly diagnosed with t13-18 who become integrated with social networks may acquire views, hopes, and expectations that are incongruous to some of those held by clinicians they may encounter. Providers should be aware of the experience of those families represented in this article. When parents request medical interventions. it may be because of what they have learned in their social networks."

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