A Waterford mother has appealed for better care for unborn babies diagnosed with Trisomy 13, after a new study showed a significant increase in the life span of children born with the condition in recent years – and also suggested surgery and other treatments were of benefit.
Vicky Wall, whose baby daughter was diagnosed with a similar chromosomal disorder, Trisomy 18, said that the study showed that the views of many doctors and medical professionals in regard to these conditions was “behind the curve in terms of new developments”, and she urged a “significant rethink and exploration of better care for Trisomy babies in Irish hospitals”, where, she said, “an outdated understanding of the conditions was leading to these precious babies being written off by medics before they are even born.”
Ms Wall, who leads a support organisation, Every Life Counts, which offers factual information and a support network to families, said that she and other volunteers would be working to make this information known at every level in the HSE.
The study, published in the American Journal of Medical Genetics, found that the median survival time of babies born with Trisomy 13 had almost doubled from three months to six months, when contrasting two periods up to 2021, and that almost 1 in 3 babies born with the condition were currently surviving for more than 1 year, a significant increase than had been previously found to be the case.
The researchers noted that the rate of patients with surgical history increased from 16% in 1996–2008, the first period under consideration to 28.% in 2009–2021, the latter period. The increased surgical intervention rate might have contributed to this improvement in average life span or survival time for the patients, they said.
Data from the Vital Statistics Database in Japan was retrieved to examine the association of sex, surgical history, and years of birth and death with changes in survival patterns in 1164 patients with trisomy 13 between 1995 and 2021.
Trisomy 13, also known as Patau’s Syndrome, is a serious medical condition, usually diagnosed in the womb – similar to another chromosomal condition, Trisomy 18, which is often called Edward’s Syndrome. Another chromosomal condition, Trisomy 21, or Down Syndrome, is the most common of the those diagnosed.
The authors of the study – Trends in the survival of patients with trisomy 13 from 1995 to 2021: A population study in Japan– noted that studies in the USA and Canada had previously reported a median survival time of just 5–12.5 days in babies with Trisomy 13 – with more than 80% of infants dying by 1 year of age, although, conversely, approximately 10% of patients with trisomy 13 survived up to 10 years.
The significant improvement in the outcomes they now recorded for babies with Trisomy 13 in the 2009-2021 period – with median survival time of 179 days, and 1 in 3 babies surviving more than a year – corresponded with a rise in surgical interventions.
They noted that “because of the poor prognosis”, babies diagnosed with Trisomy 13 are typically not given aggressive and/or surgical treatment – but that recent studies suggest that such treatments improves life outcomes in these babies.
“The decision not to implement aggressive treatment due to poor prognosis has changed in recent years because of the increased emphasis placed on parental decision-making with the “best interest of the child standard” in mind, and in conjunction with the shared decision-making model and patient-centered care advocated in the USA,” the researchers from the National Center for Child Health and Development, in Tokyo wrote.
“In Japan, the “Guidelines for Healthcare Providers and Parents to Follow in Determining the Medical Care” suggest that frank discussion between healthcare providers and parents based on the latest evidence is important to improve the child’s prognosis and quality of life in terms of the “best interests of the child” standard,” they explained.
“In the present study, the median survival time of patients with trisomy 13 who underwent surgery almost doubled from 1996–2008 (91 days) to 2009–2021 (179 days). Previous studies have reported that palliative and corrective surgical interventions can be safely performed in patients with trisomy 13 and contribute to prolonged survival,” they added.
“Other studies have reported that the increase in these medical interventions might have contributed to improved survival of infants with trisomy 13 because of the more widespread availability of standard neonatal intensive care modalities such as resuscitation with endotracheal intubation, respiratory support, and certain surgical approaches. Indeed, longer median survival times of 451 days have been reported in patients with trisomy 13 who received standard pediatric care in Japan. Our study supports this trend across Japan. These findings suggest that the high proportion of patients who undergo surgery is one contributing factor for the longer survival observed in patients with trisomy 13 in Japan,” they concluded.
Vicky Wall said that the study needed to be read and acted on by policy makers in Ireland including those in the most senior positions from the Minister for Health down – because, she said, families were being absolutely failed by the “wholly negative, discriminatory, and misleading attitudes towards babies with chromosomal disorders now prevalent in our maternity hospitals and care centres.”
Ms Wall pointed to an editorial by Dr John Lantos, an American pediatrician and an expert in medical ethics, in the leading medical journal, JAMA, where he said babies with these conditions used to be described as ‘incompatible with life’. “He pointed out that ‘in the age of social media, however, everything changed. Parents share stories and videos, showing their happy 4-and 5-year-old children with these conditions. Survival, it turns out, is not as rare as once thought’.”
Dr Lantos noted that “predictions of lethality become self-fulfilling prophecies” and advised that “the concept of quality of life is too vague and subjective to be helpful as a criterion for deciding about the appropriateness of treatment”.
“No one can know with certainty what any infant is thinking, feeling, or experiencing, but what is observed can be interpreted. Children with trisomy 13 and 18 smile and laugh. They are not in pain. They give and receive love. These factors suggest that their subjective quality of life is not so poor that life-prolonging treatment should not be offered.”
Ms Wall said that the evidence supporting a need for a change in mindset could no longer be ignored. “I have spoken to so many families who say they felt belittled, rejected and ignored because their unborn baby was diagnosed with Trisomy 13 or 18. They say they were offered no hope, that they were pushed towards abortion, that when they asked what could be done for baby after birth they were made to feel they were being ridiculous. It’s shameful, and it has to stop.”
This study shows the value of doing all we can medically to extend the lives of babies with Trisomy 13 and 18, and other life-limiting conditions, rather than writing them off and denying their lives have value,” she said. “We owe families that much.”
She said that the case of Baby Christopher Kiely who was aborted in the National Maternity Hospital after being misdiagnosed with Trisomy 18, pointed to a “serious failing in our medical culture, and one that has not been fully addressed.”
“We need – we deserve – reassurances that change is happening and that the same culture that made abortion seem like the only solution after that horrific misdiagnosis is being challenged,” she said. “We also need to know that the findings of studies like this one bringing realistic but hopeful updates are being taken on board,” she said.
Ms Wall said that a survey published in Pediatrics of families whose children were born with Trisomy 13 or 18 found that 97% of families say their child was happy, with similar numbers saying their child enriched their lives, whatever the longevity.
Parents also reported being told that their child was incompatible with life (87%), would live a life of suffering (57%), would be a vegetable (50%), or would ruin their family (23%).
“We need to ensure parents are given factual, up-to-date, realistic information, and that it is not distorted by personal opinion or by negative views of the value of the life of a baby with a poor diagnosis,” Ms Wall said.
