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Friday, July 27, 2012

Trisomy 13 and 18: How is Life Valued?

I deeply admire the work of Barb Farlow. I doubt many readers in the United States will know who she is. This is unfortunate as Farlow is all too rare in that she can write with great passion, steely resolve and ruthlessly uses facts to prove her points. In 2005 Farlow gave birth to Annie who had Trisomy 13 a rare condition. Most babies that receive this prenatal diagnosis are not brought to term. After much angst Farlow decided to give birth, a decision that was out of the norm. When her daughter Annie was born Farlow was relieved that her daughter did not have the common brain and heart defects associated with Trisomy. In the Hastings Center Report Farlow wrote that she and her husband wanted to give "Annie the same chances as a child without disabilities". In short, Farlow was realistic and knew Annie's life expectancy would likely be very short--Annie in fact died after just 80 days.  As a parent this gives me the chills, it truly shakes me to the core as I cannot imagine losing a child. What shook Farlow extended far beyond dealing with the death of her daughter.  After Annie's death Farlow requested Annie's medical records and within hours knew something was profoundly amiss. Without consent her daughter was labeled "not for intubation". This was the first revelation that would lead to many more that undoubtedly changed the direction of Farlow's life. Farlow is now an advocate for families with a child that has Trisomy and is fighting what I would label a good fight. What is she fighting for? For ethicists and physicians to acknowledge that children with Trisomy life should be valued.

In the Journal of Pediatrics Farlow along with Ben Wilfond and Anne Janier wrote "The Experiences of Families with Children with Trisomy 13 and 18 in Social Networks." This article calls into question the belief that Trisomy is a "lethal disorder". I am not questioning the mortality rate,  only 6-12% of babies with Trisomy live longer than a year. The American Academy of Pediatrics Neonatal  recommends against resuscitation. Children with Trisomy also have profound neurodevelopmental disabilities if they survive. Trisomy is without question a grim condition. However grim the condition is it does not mean children like Farlow's daughter Annie life lacks value. And this is where Farlow and web based social networks can and have played a key role. It is the parents of children with Trisomy that have called into question the belief Trisomy is "lethal". According to the article in Pediatrics parents were told Trisomy was incompatible with life. A child with this condition would suffer, live a meaningless life, ruin a marriage or harm a family. The message here is about as subtle as a brick thrown through a plate glass window--let your child die.

While I am not surprised by the article findings I hope it is a real eye opener for many physicians. In spite of profound disabilities and a short life virtually all parents reported a positive family life. Parents believed their children with Trisomy had a good quality of life. By itself this is critically important. In typical academic prose the authors conclude:

Our results suggest that there are many areas in which the parental experience of having a child with T13-18 differs profoundly from the “conventional” view within the medical community. Recently, many articles have been published pertaining to the ethical and medical management of children with T13-18. The quality of life of the child living with T13-18 is often described as a justification for not providing interventions for these diagnoses.

Yikes does this sound familiar to me. Quality of life assessments are incredibly subjective. In fact I have spent the last 30 years railing against the beliefs of others who deem my quality of life inherently inferior simply because I am paralyzed. If we as a society permit others to judge people with a disability as inferior abuse will remain rampant. The ADA will continue to be ignored. Thus when I read the article in question I immediately thought of a recent article in another medical journal Lancet. The WHO has reported that children with disabilities are four times more likely to experience violence when compared to typical nondisabled children. In the words of Etienne Krug, Director of WHO's Department of Violence and Injury Prevention and Disability "children with disabilities are disproportionately vulnerable to violence and their needs have been neglected for far too long." Why are children with disabilities abused? Risk factors include stigma, discrimination and ignorance about disability all of which are social problems.

One last point: I got to meet Barb Farlow earlier this month and went to the Hockey Hall of Fame with her two youngest sons and her eldest son. Spending the day with the Farlow family brought back a flood of warm memories--I am the product of a large Catholic family. I had great fun the day we met and was delighted to meet another person dedicated to protecting and advocating for the rights of people with a disability. We may be few in numbers but our resolve is strong. 


Unknown said...

Having taught a very healthy teenager with trisomy 18 for a year I can say unequivocally that his condition was very compatible with life. And although from time to time he made my life difficult, I would have to say that he had a very good and happy life with two parents who loved him and a school system dedicated to at least make him comfortable and welcome. When we look at a person with a disability such as this and say that there is no "quality of life", perhaps it is because we are not doing our jobs making sure that their quality of life is as good as ours.

Annie said...

Bill, thanks for posting about our research. We are thrilled by the positive media attention we received pursuant to the journal's press release and by the emails of appreciation we have received from thoughtful physicians in influential positions.

I wish to make clear that our goal for Annie was to provide care only if she could live happily and comfortably. I don't want readers to assume that this was a situation where parents were in denial and the child was medically futile.

At no time have we been told that our daughter's death was inevitable or that she could not be helped. Nobody knows why Annie had respiratory distress and the absent final records give few clues about the cause of her sudden and inexplicable decline shortly after I briefly left the room. The Coroner's pediatric committee declared that the care was not appropriate and the hospital apologized, writing "sometimes" communication for children like Annie was not as they would wish. My husband and I were omnipresent and had a positive, respectful relationship with all staff. Annie did not have the serious brain and heart anomalies associated with the condition.

There is good reason to question the mortality rates for Annie's genetic condition. Fifty years ago, when trisomy 13 was first identified, survival rates were greater. It seems as if the genetic label associated with the certainty of significant disability had an effect on the care of these children and they did not benefit from advances in medicine and technology as other children have. Also, none of the population studies which report the grim rates provide detail into the care provided/withheld or the code status of the children.

International guidelines exist, and have been adopted by most countries, that explicitly recommend limitations in care for infants with trisomy 13 in part on the basis of "unacceptable morbidity." Yet the medical literature, until now, was void of description about the parental perspective of the quality of the lives of these children and that of their families. I believe that policy development of this nature is unethical.

You mentioned that you were the product of an Irish Catholic family- you might be interested to know that in my neck of the woods, the Catholic church encourages children with certain prenatal diagnosis to be induced at 22 weeks and placed in their mothers' arms to die.

To help readers to understand our hopes for Annie, here is a happy boy with trisomy 13:

Here is Annie's video:

william Peace said...

Lisa, I consider the article in question damning and hopefully will lead to profound changes in neonatal centers.
Barb, I understand your goal for Annie was for her to live comfortably and to simply be happy. At a basic level this is what all parents desire for their children. You are correct there is very good reason to question trisomy survival rates. I am deeply troubled by genetic labels and the implications are disturbing. It is amazing to me that the medical literature has utterly failed to consider parental perspectives--it reminds me of the disability rights slogan nothing about us with out us.
As for the Catholic Church, the institution is morally bankrupt. If it were up to me the Vatican would be sold off piece by piece and have the proceeds go to all the people who have been horribly wronged by the Church. I can never forgive or forget the way the church protected priests that molested countless boys. This says nothing of the blatant sexism that is rampant and undermines women in and outside of the church.

Matthew Smith said...

There is a related condition called Tetrasomy 18p which was also thought to be highly disabling but is now known (at least in some cases) not to be so. There was a law passed in Alberta province, Canada, to reform the way children with disabilities are supported - it is known as Samantha's Law after Samantha Martin, who was removed from her mother's care and given to supposedly therapeutic foster parents who in fact neglected her; she suffered seizures which went untreated and had unexplained injuries. She returned to her parents at age 13 and thrived, learning to speak, but sadly died a few months later.

I spoke to her mother, Velvet Martin, on a related campaign page on FB and she said that she believed social services wanted to get the daughter adopted by a relatively wealthy family so as to save the government money. There are very few cases of the condition but she told me she had found out that most of them had very mild developmental delay and autistic characteristics; they were not the "vegetables" the doctors initially thought they would be.

Some trisomy conditions do cause very profound disability, though - there was a young girl featured on a Channel 4 series (in the UK) called "Born to be Different" which followed a group of children with different disabilities through the first ten years of life. One of them had Partial Trisomy 9p and she was very severely disabled and couldn't speak or walk and had very severe developmental delay. But it's obvious that doctors are making assumptions and leaving children to die on the basis, when they have an oath to protect life.

Also, I find it staggering that the Catholic church (or American Catholic health establishment) takes the same view when they refuse abortion to women when their life is obviously at risk. Some inconsistency there I think.

velvetwaveofmyheart said...

Hello, I am mom to angel, Samantha Martin. I was conducting an unrelated google search regarding my child when I stumbled across this blog. It is a good read, thank you for enlightening others about the value of ALL life. I am in touch with Barb Farlow - we have met in person previously and communicated since - so I have alerted her to the page as well. My best, Velvet Martin, founder of SAMANTHA'S LAW and spokesperson for Protecting Canadian Children

velvetwaveofmyheart said...

Hello, I am mom to angel, Samantha Martin. I was conducting an unrelated google search regarding my child when I stumbled across this blog. It is a good read, thank you for enlightening others about the value of ALL life. I am in touch with Barb Farlow - we have met in person previously and communicated since - so I have alerted her to the page as well. My best, Velvet Martin, founder of SAMANTHA'S LAW and spokesperson for Protecting Canadian Children