When Barb Farlow learned the baby she was carrying had Trisomy 13, her decision to continue the pregnancy "was immediate and innate, and in complete contrast to what I thought I might do," says the Toronto mother and engineer. She was told the syndrome was lethal, but through online support groups met families whose children were living with Trisomy 13. "It was very important to us that she not suffer unnecessarily, but we wanted to consider any surgical treatments and make 'best-interest' decisions for her, like any parent."
Barb's daughter Annie (above) was born without the brain and heart defects common in Trisomy 13, but died at 80 days in 2005 after being rushed to a children's hospital in respiratory distress. Following her death, Barb acquired Annie's medical records and learned a "not for intubation" order had been written without consent. “This discovery was like the first domino in a long line of questionable events that left us unclear as to whether our daughter’s death was preventable.” Determined to change what she believes is systemic discrimination against treating children with certain genetic conditions, Barb shares Annie’s story at health-care conferences and ethics talks, with medical and law students, in medical journals and through her work with Patients for Patient Safety Canada.
Me: When did you learn Annie had Trisomy 13?
Barb Farlow: After the 22-week ultrasound, the geneticist said "this is Trisomy 13, 18, or something equally lethal." We were told she would likely die before birth or in the delivery room. Initially, the research we did suggested these babies were ‘incompatible with life.’ We were confused because it seemed that many of the anomalies they had could be fixed. When I was six months pregnant we found Living with Trisomy 13, a web site for families. We came to know many living children and their families and discovered these children were very special and loved, that some did benefit from medical intervention, and that while the experience was challenging, it was life-changing for the families.
Me: How did you decide to continue with the pregnancy?
Barb Farlow: It wasn't a process, it was immediate. By the time of the diagnosis, I had grown to love my baby and felt very protective of her. I realized the odds were against her even coming to term, but it didn't mean I would take steps to end her life. The geneticist said “We don’t do surgery on these kids” and an obstetrician later told us: “You don’t crack the chest open for these little kiddies.” That prompted us to meet with staff from three departments at the children's hospital to ensure that if Annie needed life-saving surgery, she would be eligible for it. We were told she’d be treated like any other child. We knew surgery might not be indicated for her – that it might be too burdensome or not in her best interest, but we didn’t want the door closed on account of her genetic condition or disability. We wanted full information about the benefits and risks of any treatments so we could make good choices.
Me: What were your hopes and dreams for Annie?
Barb Farlow: We wanted her to have a chance. We wanted her to survive as desperately as any parent wants their child to survive. We were well aware of the disabilities and challenges she would have. My husband had taken an indefinite leave from work so that we could both devote ourselves to Annie and our other children. We wanted Annie to have comfort and happiness and we knew that through loving her we were going to learn so much. With Annie, we took nothing for granted and lived each day to the fullest. One clear, hot night, when everyone was asleep, we took Annie outside and looked at the stars together. We viewed life differently when Annie was born. Her first smile was like magic.
Me: How was Annie affected by Trisomy 13?
Barb Farlow: When she was born, we learned she didn't have the brain defect or the major cardiac condition they predicted. She was seven pounds, with Apgar scores of eight and nine out of 10, which was amazing. We were more shocked than anybody. She wasn't blind or deaf, which was a possibility, and she didn't have any major structural deformities in her organs. As we were rejoicing about how well Annie was doing, a medical fellow asked my husband: "Do you really want to treat this child? She's going to have these disabilities." He suggested she shouldn’t be treated, irrespective of her physical status. It was like a slap in the face. Annie was treated in hospital for six weeks for low blood sugar and received excellent supportive care at that time.
Me: How did Annie die?
Barb Farlow: We only recently received the medical certificate of death and it lists respiratory distress that began one month prior to her death. When we took her to the outpatient clinic two days before she died – because she was having trouble breathing and her face was beet red – we were told it might get better on its own and sent home with no tests and no measure of comfort for her distress. Earlier on, a pulmonologist had suspected she had a tracheal disorder, but she was never tested for it. When she was rushed to hospital in acute distress for a tracheal assessment, we were told her trachea was fine, but she had pneumonia. She didn’t. We later learned that throughout her life, doctor after doctor ignored critical indications of impending respiratory failure. Meanwhile, we were led to believe that Annie was receiving full care.
Me: How are children with serious genetic conditions viewed in our culture?
Barb Farlow: Especially with the financial challenges in our health system, I think there's an element of anger similar to how some people feel when a person is obese or a smoker and needs expensive medical treatment. There's the perception: "This is a choice, a life choice, we have ways of preventing these things." I think there are many in health care who see these children this way – as something we can avoid and have the ability to avoid. There's a perception that if a child isn't perfect, it's cruel to bring them into the world. It's expected that the vast majority of women are having testing and will terminate for these conditions. I think it's a challenge for health-care providers to have compassion and see value in our children when it's a road they wouldn't have taken themselves. Especially when there are limited resources and they're already short of NICU beds.
Me: What about in the community at large? Did you feel supported as a mother who chose not to terminate a child with a genetic condition?
Barb Farlow: I had a sense that most of our friends and neighbours wouldn't understand our choice, so during the pregnancy I confided in only a few close friends. It's unfortunate, because a person needs a lot of support at that time, but the support doesn't exist. When you terminate in our system, you're given a gift package – with hand-knit booties, a swaddling blanket and a kit for making footprints. There are support groups and psychological counselling and it's all there to help you go in that direction. If you choose not to terminate, you're on your own, with some of your friends and relatives thinking you're crazy.
Me: How has the rise of prenatal testing influenced public perceptions about children with genetic conditions?
Barb Farlow: I believe it creates the perception that we have a cure for these conditions. There’s a sense of “I’ve done all my prenatal screening and testing, I have a right to a perfect baby.” I’ve heard from genetic counsellors that more women are terminating for less serious conditions like cleft lip and palate, or club feet. I think we need to review whether the training doctors receive allows them to counsel in a neutral and balanced way. I found an educational presentation online created by Ontario’s Fetal Alert Network that included a photo of a stillborn child with a severe deformity related to Trisomy 13 placed next to a picture of a one-eyed Cyclops from Greek mythology. This was a terribly dehumanizing picture. When a family doctor has a patient whose fetus has been diagnosed with Trisomy 13, what picture will come to his mind? Annie had an extra finger on both of her hands. But she wasn’t less human.
Me: You’ve spent the last three years sharing Annie’s story across North America and further afield. What do you hope to achieve?
Barb Farlow: I hope I’ve opened the eyes of health-care providers to how a family makes decisions and how they feel. I hope I’ve held a mirror to them to reveal how their actions or inactions were perceived by a family. I think there’s a group-think approach in health care to issues related to disability. Everybody does what everybody else is doing and no one thinks for themselves. I believe a lot of denials of care are tacit and “let’s all do this because we think everyone is doing this" and based on the assumption: "These kids are hopeless and no one wants them.” I hope I’ve changed that, and allowed providers to start thinking about things in a different way, so they can stand up and speak for what they believe is right.
We know that our decision was not a common one, but we believe parental involvement and consent in treatment decisions are critical. I think there should be a requirement that children with complex conditions have a clear treatment plan documented in their file that includes the parents’ values and wishes. The issue is consent, and if the line is crossed now, on this genetic condition, what other conditions will be crossed? Down syndrome is also a genetic condition in every gene, and we don’t call it lethal. Sometimes children with Down syndrome have things that need to be fixed, and we fix them.
Me: What advice would you give a parent who’s chosen to bring a baby prenatally diagnosed with a genetic condition to term?
Barb Farlow: Number one would be communication. It’s important that the doctors know you’re aware of the challenges of the medical condition, that you’re realistic and realize you might have to make difficult decisions. Emphasize that you want to make decisions based on medical reasons and not quality-of-life reasons, that you’ve accepted the disability. It’s helpful if you connect with other families of children with similar disabilities prenatally, so you can say you’re aware of what you’re getting into and you’ve made the commitment.
Ask a lot of questions about tests and their outcomes and continually restate your position regarding the level of care you want. You may be afraid to ask questions because you’re afraid of the answers. It’s natural, as a parent, to be afraid of bad news. But you must ask anyway. After Annie’s death I was asked by the chief of a hospital department why I didn’t challenge the doctor at the outpatient clinic we took her to when her face was beet red and he sent us home. I wouldn’t have dreamed of challenging a doctor at that point. We trusted them.
At the international level, groups for Trisomy 13 are trying to get a short medical primer developed that lists the various associated conditions and treatments so that parents can speak intelligently about the issues with their doctor. Connecting with other families prior to your child’s birth is a very important way to get educated.
Click here to read an overview of Annie's story.
Barb's daughter Annie (above) was born without the brain and heart defects common in Trisomy 13, but died at 80 days in 2005 after being rushed to a children's hospital in respiratory distress. Following her death, Barb acquired Annie's medical records and learned a "not for intubation" order had been written without consent. “This discovery was like the first domino in a long line of questionable events that left us unclear as to whether our daughter’s death was preventable.” Determined to change what she believes is systemic discrimination against treating children with certain genetic conditions, Barb shares Annie’s story at health-care conferences and ethics talks, with medical and law students, in medical journals and through her work with Patients for Patient Safety Canada.
Me: When did you learn Annie had Trisomy 13?
Barb Farlow: After the 22-week ultrasound, the geneticist said "this is Trisomy 13, 18, or something equally lethal." We were told she would likely die before birth or in the delivery room. Initially, the research we did suggested these babies were ‘incompatible with life.’ We were confused because it seemed that many of the anomalies they had could be fixed. When I was six months pregnant we found Living with Trisomy 13, a web site for families. We came to know many living children and their families and discovered these children were very special and loved, that some did benefit from medical intervention, and that while the experience was challenging, it was life-changing for the families.
Me: How did you decide to continue with the pregnancy?
Barb Farlow: It wasn't a process, it was immediate. By the time of the diagnosis, I had grown to love my baby and felt very protective of her. I realized the odds were against her even coming to term, but it didn't mean I would take steps to end her life. The geneticist said “We don’t do surgery on these kids” and an obstetrician later told us: “You don’t crack the chest open for these little kiddies.” That prompted us to meet with staff from three departments at the children's hospital to ensure that if Annie needed life-saving surgery, she would be eligible for it. We were told she’d be treated like any other child. We knew surgery might not be indicated for her – that it might be too burdensome or not in her best interest, but we didn’t want the door closed on account of her genetic condition or disability. We wanted full information about the benefits and risks of any treatments so we could make good choices.
Me: What were your hopes and dreams for Annie?
Barb Farlow: We wanted her to have a chance. We wanted her to survive as desperately as any parent wants their child to survive. We were well aware of the disabilities and challenges she would have. My husband had taken an indefinite leave from work so that we could both devote ourselves to Annie and our other children. We wanted Annie to have comfort and happiness and we knew that through loving her we were going to learn so much. With Annie, we took nothing for granted and lived each day to the fullest. One clear, hot night, when everyone was asleep, we took Annie outside and looked at the stars together. We viewed life differently when Annie was born. Her first smile was like magic.
Me: How was Annie affected by Trisomy 13?
Barb Farlow: When she was born, we learned she didn't have the brain defect or the major cardiac condition they predicted. She was seven pounds, with Apgar scores of eight and nine out of 10, which was amazing. We were more shocked than anybody. She wasn't blind or deaf, which was a possibility, and she didn't have any major structural deformities in her organs. As we were rejoicing about how well Annie was doing, a medical fellow asked my husband: "Do you really want to treat this child? She's going to have these disabilities." He suggested she shouldn’t be treated, irrespective of her physical status. It was like a slap in the face. Annie was treated in hospital for six weeks for low blood sugar and received excellent supportive care at that time.
Me: How did Annie die?
Barb Farlow: We only recently received the medical certificate of death and it lists respiratory distress that began one month prior to her death. When we took her to the outpatient clinic two days before she died – because she was having trouble breathing and her face was beet red – we were told it might get better on its own and sent home with no tests and no measure of comfort for her distress. Earlier on, a pulmonologist had suspected she had a tracheal disorder, but she was never tested for it. When she was rushed to hospital in acute distress for a tracheal assessment, we were told her trachea was fine, but she had pneumonia. She didn’t. We later learned that throughout her life, doctor after doctor ignored critical indications of impending respiratory failure. Meanwhile, we were led to believe that Annie was receiving full care.
Me: How are children with serious genetic conditions viewed in our culture?
Barb Farlow: Especially with the financial challenges in our health system, I think there's an element of anger similar to how some people feel when a person is obese or a smoker and needs expensive medical treatment. There's the perception: "This is a choice, a life choice, we have ways of preventing these things." I think there are many in health care who see these children this way – as something we can avoid and have the ability to avoid. There's a perception that if a child isn't perfect, it's cruel to bring them into the world. It's expected that the vast majority of women are having testing and will terminate for these conditions. I think it's a challenge for health-care providers to have compassion and see value in our children when it's a road they wouldn't have taken themselves. Especially when there are limited resources and they're already short of NICU beds.
Me: What about in the community at large? Did you feel supported as a mother who chose not to terminate a child with a genetic condition?
Barb Farlow: I had a sense that most of our friends and neighbours wouldn't understand our choice, so during the pregnancy I confided in only a few close friends. It's unfortunate, because a person needs a lot of support at that time, but the support doesn't exist. When you terminate in our system, you're given a gift package – with hand-knit booties, a swaddling blanket and a kit for making footprints. There are support groups and psychological counselling and it's all there to help you go in that direction. If you choose not to terminate, you're on your own, with some of your friends and relatives thinking you're crazy.
Me: How has the rise of prenatal testing influenced public perceptions about children with genetic conditions?
Barb Farlow: I believe it creates the perception that we have a cure for these conditions. There’s a sense of “I’ve done all my prenatal screening and testing, I have a right to a perfect baby.” I’ve heard from genetic counsellors that more women are terminating for less serious conditions like cleft lip and palate, or club feet. I think we need to review whether the training doctors receive allows them to counsel in a neutral and balanced way. I found an educational presentation online created by Ontario’s Fetal Alert Network that included a photo of a stillborn child with a severe deformity related to Trisomy 13 placed next to a picture of a one-eyed Cyclops from Greek mythology. This was a terribly dehumanizing picture. When a family doctor has a patient whose fetus has been diagnosed with Trisomy 13, what picture will come to his mind? Annie had an extra finger on both of her hands. But she wasn’t less human.
Me: You’ve spent the last three years sharing Annie’s story across North America and further afield. What do you hope to achieve?
Barb Farlow: I hope I’ve opened the eyes of health-care providers to how a family makes decisions and how they feel. I hope I’ve held a mirror to them to reveal how their actions or inactions were perceived by a family. I think there’s a group-think approach in health care to issues related to disability. Everybody does what everybody else is doing and no one thinks for themselves. I believe a lot of denials of care are tacit and “let’s all do this because we think everyone is doing this" and based on the assumption: "These kids are hopeless and no one wants them.” I hope I’ve changed that, and allowed providers to start thinking about things in a different way, so they can stand up and speak for what they believe is right.
We know that our decision was not a common one, but we believe parental involvement and consent in treatment decisions are critical. I think there should be a requirement that children with complex conditions have a clear treatment plan documented in their file that includes the parents’ values and wishes. The issue is consent, and if the line is crossed now, on this genetic condition, what other conditions will be crossed? Down syndrome is also a genetic condition in every gene, and we don’t call it lethal. Sometimes children with Down syndrome have things that need to be fixed, and we fix them.
Me: What advice would you give a parent who’s chosen to bring a baby prenatally diagnosed with a genetic condition to term?
Barb Farlow: Number one would be communication. It’s important that the doctors know you’re aware of the challenges of the medical condition, that you’re realistic and realize you might have to make difficult decisions. Emphasize that you want to make decisions based on medical reasons and not quality-of-life reasons, that you’ve accepted the disability. It’s helpful if you connect with other families of children with similar disabilities prenatally, so you can say you’re aware of what you’re getting into and you’ve made the commitment.
Ask a lot of questions about tests and their outcomes and continually restate your position regarding the level of care you want. You may be afraid to ask questions because you’re afraid of the answers. It’s natural, as a parent, to be afraid of bad news. But you must ask anyway. After Annie’s death I was asked by the chief of a hospital department why I didn’t challenge the doctor at the outpatient clinic we took her to when her face was beet red and he sent us home. I wouldn’t have dreamed of challenging a doctor at that point. We trusted them.
At the international level, groups for Trisomy 13 are trying to get a short medical primer developed that lists the various associated conditions and treatments so that parents can speak intelligently about the issues with their doctor. Connecting with other families prior to your child’s birth is a very important way to get educated.
Click here to read an overview of Annie's story.
I have a 23-year-old daughter who has Partial Trisomy 13q and Partial Trisomy 15q (in other words, trisomy as the result of a translocation). Rebecca, though born with many anomalies common to Trisomy 13, and at a huge, big-city hospital, was not diagnosed at birth. All of her anomalies were treated with surgeries, therapies, and medications, as deemed necessary. Currently, she reads on a 5th grade (or better) grade level, has lovely handwriting, can calculate, tell time, etc. She attends a program for adults with special needs 3 half-days per week and loves it! They cook together, make arts and crafts, play sports, have group discussions about favorite books, people skills, why we vote, and so on.
ReplyDeleteRebecca's favorite place is church, and she loves Praise and Worship. The people there love her dearly, and she looks so forward to going!
Rebecca's story is posted at www.livingwithtrisomy13.org, along with the stories of about 100 other infants, children, and adults living with Trisomy 13. Their stories will inspire you! All of these individuals, whether they have Full T-13, Partial T-13, Translocations involving T-13, or Mosaic T-13, have accomplished much more than doctors predicted! There is also a Prenatal Album on the website for familes expecting a child with T-13 and a Treasured Memories Album in which families can honor the memory of children who have passed away.
Even here in the USA, I am continually surprised at how many doctors and hospitals will not treat highly treatable conditions afflicting these precious children. The doctors' insistence on declaring that no matter what they do the child will die becomes a self-fulfilling prophecy.
The world would be a better place if kids had moms like Barb Farlow.
ReplyDeleteRachael is my 19 month old daughter born with Trisomy 18. Same story as Barb was told would have to terminate pregnancy as "these babies are not compatible with life"! We were told to move to a bigger city if we intended to keep her. My husband was in the US Army then and I was told by the Major Gynecologist that the army insurace did not cover terminations but that she will have me see a doc outside the facility who will inject the heart with medication to stop it then i could come in for them to induce labour!!!! I was 7 months gone and told her i was keeping her and will move instead.
ReplyDeleteIt was hard moving to the unknown as i was not given any educational material, trying to sell my house, buying a new one, securing my job and settling my other kids. I
I had her 2 mths after the move and was told she had only 6 hrs to live. She is my miracle and my testimony each day. I thank God for her life and the joy she has brought to everyone she has touched. It has made me become a stronger person
This comment has been removed by the author.
ReplyDeleteMy son Noah was born with full t18, we didn't know in pregnancy and he was diagnosed when he was 6 days old. Noah passed in July this year aged 3.5 years he had a fabulous life. He changed medics opinions and last September he started nursery in the UK. My son deserved to have the best of life like any other child and, we gave it to him. Noah had a massive VSD and pulmonary hypertension, he was ng tube fed and was on a tiny bit of oxygen 24/7, but, that's fine he got what he needed.
ReplyDeleteWe were given an extremely poor prognosis for him, 90% of children die before they are one but, I wonder if the parents were treated better during pregnancy and, not constantly told to terminate or that child wouldn't make it would more children live and, live longer. It's only 30 years ago that children with Down's were given no hope and, now they have fantastic lives.
We were told with Noah he would never reach his full potential, what on earth does that mean? He exceeded his potential and, did more in his 3.5 years than most do in a life time.
The parents need to be given all of the choices with all of the information so THEY can decide what THEY want and, are not told that their child won't matter they will be disabled and in constant pain. How do they know, Noah wasn't!
Medics need to move away from words like 'lethal' and 'incompatible with life'. Wicked words and totally unecessary. We are all terminally ill from the day we are born no one knows when our time is up, so give all of these kids a chance, or does it just boil down to money.
Good luck Barb, we are all with you.
Please feel free to Google Jacob and Noah Linster-Ali to see what they have accomplished.
Deborah Linster-Ali
Thank you for being willing to bring a beautiful ray of light to a very dark area. In the U.S. 90% of babies diagnosed in utero with Down's syndrome are never given the chance to be born. A tragedy. Would those numbers be different if parents were given all the information, support services, options and medical interventions available today?
ReplyDeleteWe definitely need to change our terminology as medical advancements continue. Were most babies with chromosome irregularities "incompatible with life" fifty years ago? Probably. Are they today? Most likely not. Why are the doctors and health care workers perpetuating old ideas as opposed to giving up to date information to parents who get the news of an "imperfect" baby.
In all honesty, I doubt that any parent would aspire to hearing that kind of news, yet as you say Barb, if those parents choose to give life and love to their precious offspring then they deserve every bit of medical intervention, assistance and encouragement as possible.
I thank you for all that you do to give every precious child a chance at a wonderful life with the health care they deserve and all the love and attention their families and friends are willing to give. May we never lose sight of how our society will be judged, how we treat our most vulnerable citizens.
Kathy Radom
Thank you Barb for taking up the call to change the way our medical system views our children. Your story is heart breaking and hits close to home.
ReplyDeleteOur story is vastly different, but the ethics and values are so much the same. My son was a 25 week prem., born in Western Canada. His life was endangered when the Neonatal Unit viewed him as "not viable" and determined that there was a "90% certainty that, even if he did survive, he would be so severely handicapped that it would be cruel to allow him to live." (What parent doesn't read that as a 10% of survival?) Thank God we had one very determined doctor who found him a bed, so that he survived his neonatal period!
During his 4 months in hospital I had to continually defend his right to live, as did other parents on the ward. One mother was so tired of being told to "discontinue treatment" that she pretended she couldn't speak English! Sadly, others began to believe the doctor-speak, and let their babies go. Now, when I see my son smile, hear him laugh, I think of those mothers, and my heart breaks.
I wonder what it will take to remind the medical community that life is precious. Period.No imperfect babies. No accidents.
I'm truly thankful that you are taking up that cause.