Children with trisomy 13 or 18, who are for the most part severely disabled and have a very short life expectancy, and their families lead a life that is happy and rewarding overall, contrary to the usually gloomy predictions made by the medical community at the time of diagnosis, according to a study of parents who are members of support groups published today in Pediatrics.
The study was conducted by Dr. Annie Janvier of the Sainte-Justine University Hospital Center and the University of Montreal with the special collaboration of the mother of a child who died from trisomy 13, Barbara Farlow, Eng, MSc as the second author.
The study interviewed 332 parents who live or have lived with 272 children with trisomy 13 or 18. It turns out that their experience diverges substantially from what healthcare providers said it would be, according to which their child would have been "incompatible with life" (87 %), would have been "a vegetable" (50 %), would have led "a life of suffering" (57 %) or would have "ruin their family or life as a couple" (23 %).
It should be noted that trisomies 13 and 18 are rare chromosome disorders that are most often diagnosed before birth and sometimes after. Children who have received these diagnoses generally do not survive beyond their first year of life, while some who do have severe disabilities and a short life. When trisomy 13 or 18 is diagnosed before birth, many parents decide to interrupt the pregnancy, whereas others choose to carry it to term and in such cases miscarriages are common.
As children with trisomies 13 or 18 generally receive palliative care at birth, some parents who opt to continue the pregnancy or desire life-prolonging interventions for their child encounter the prejudices of the medical system. In this regard, the parents interviewed in the study consider that caregivers often view their child in terms of a diagnosis ("a T13", "a lethal trisomy") rather than a unique baby.
"Our study points out that physicians and parents can have different views of what constitutes quality of life," states Dr. Annie Janvier, a neonatologist and co-founder of the Master's program in Pediatric Clinical Ethics at the University of Montreal. In fact, over 97% of the parents interviewed considered that their child was happy and its presence enriched the life of their family and their life as a couple regardless of longevity. "In the medical literature on all handicaps, disabled patients – or their families – rated their quality of life as being higher than caregivers did," adds Dr. Annie Janvier.
Parents who receive a new diagnosis of trisomy 13 and 18 and join a parental support group often acquire a more positive image of these diagnoses than the predictions made by the medical profession. In fact, according to the parents interviewed, belonging to a support group helped them view their experience positively. "Our research reveals that some parents who chose a path to accept and to love a disabled child with a short life expectancy have experienced happiness and enrichment. My hope is that this knowledge improves the ability of physicians to understand, communicate and make decisions with these parents," concludes Barbara Farlow.
Given the rarity of trisomy 13 or 18 cases (one case out of approximately every 10,500 births), the parents were recruited through online support groups that parents often join after receiving the physicians' diagnosis. Dr. Annie Janvier and Barbara Farlow sometimes give joint talks on the subject of trisomies 13 and 18.
William Raillant-Clark | EurekAlert!
Europe’s Demographic Future. Where the Regions Are Heading after a Decade of Crises
10.08.2017 | Berlin-Institut für Bevölkerung und Entwicklung
Scientists reveal source of human heartbeat in 3-D
07.08.2017 | University of Manchester
Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.
As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...
Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.
Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...
For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.
While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...
An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.
The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...
A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.
Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...
16.08.2017 | Event News
04.08.2017 | Event News
26.07.2017 | Event News
22.08.2017 | Health and Medicine
22.08.2017 | Materials Sciences
22.08.2017 | Life Sciences