“Our children are not a diagnosis”: the family experience of trisomy 13 and 18

Annie Janvier, Barb Farlow and Ben Wilfond have just published a rather disturbing study. At least I feel a bit disturbed. (Janvier A, Farlow B, Wilfond BS: The experience of families with children with trisomy 13 and 18 in social networks. Pediatrics 2012.) It is one of those studies that challenges many assumptions. They set up an internet questionnaire and contacted parents of infants with trisomy 18 and trisomy 13 who belonged to various internet-based support groups.

In this new publication; 332 parents completed the questionnaire, some had prenatal diagnosis and others postnatal. Those with prenatal diagnosis may or may not have had access to abortion services, but if they did, they had obviously chosen not to terminate because the study only included parents of infants who had been born alive.

About half of the parents had opted for palliative care and a quarter for limited medical care after birth, the remaining 25% had wanted full intervention. Interestingly, survival duration was not much different between these families.

One of their important findings was that they asked parents if they regretted their choices regarding the extent of medical intervention. The parents who regretted their choices were overwhelmingly those who chose to limit the medical interventions to comfort care only, or less than full intervention.

Also of note the children did show signs of developmental progress, and all were able to communicate with their parents at some level.

The parents report overwhelmingly, that the experience of living with these children had made a positive contribution to their family life, irrespective of the length of their lives, and even though it had created substantial financial costs. They also report their child as being a happy child.

What is most distressing is how negative the families’ interactions with health care providers were. Although 2/3 of the families did meet at least one provider who was helpful; most had received misinformation, and many of those who chose to have active care felt that they were judged negatively by providers for daring to make that decision. Providers also often referred to their baby in de-humanising terms, calling their baby ‘it’ or ‘a T18’. They recount interactions with providers who never learnt their baby’s name, instead referring to the child by their diagnosis.

This study points out the uniqueness of each of these children and the heterogeneity of condition and survival. The emphasize that we cannot be definite about the duration of survival or the capacities of an individual.

They conclude: Parents who engage with parental support groups may discover an alternative, positive, description about children with T13-18.

I conclude; we need to rethink how we present diagnoses of serious conditions to parents.

I must admit to an enhanced interest in this publication, I know Barb Farlow personally, she contacted Annie and me a few years ago, after her family had a distressing interaction with healthcare providers. Her own daughter was born with trisomy 13 and eventually died after a re-admission, when a do not resuscitate order was placed in her baby’s chart without her knowledge or consent (or that of her husband; she has written about the experience here and here and here). Interacting with Barb and then going on to review the websites, youtube videos and personal stories of families who had a child with one or other of these trisomies has really enhanced my understanding of how some families with such children react. One very touching video, which has become quite well known, is 99 balloons, another is here. I encourage anyone who has to care for  families whose children have severe impairments to spend  some time listening to the parent stories, the videos and the websites.

So here are some guidelines to use when talking with parents who have received a diagnosis, prenatal or postnatal, guidelines that you could develop as a result of these families’ reports of their experiences:

1. Don’t say that this is ‘incompatible with life’ or ‘lethal’; anyone can go on the internet and find very quickly that you lied to them.

2. Don’t say that if they survive ‘they will live a life of suffering’, parents do think that their child had more pain than others, but they also had many positive times, and their overall evaluation was positive.

3. Human beings are not vegetables. These children are conscious and interact, even if at very limited levels. Carrots don’t.

4. Don’t predict marital disharmony, or family breakdown. You can’t see the future, there is no evidence at all that this occurs more when a family has a baby with severe impairments, and indeed in this admittedly biased sample the divorce rate was far lower than the US or Canadian average.

4. Families find meaning in the lives of their children. Whether those lives are unimpaired or lived with severe impairments. Whether they are very short or not.

5. Don’t suggest that the child is replaceable. Sometimes parents will bring up the idea that they can have another child, that is fine if they do so, but for you to suggest it really shows that you think this child is worthless.

6. Don’t say that there is nothing you can do for them. There is a lot you can do. Empathy and a positive attitude can be a great help. Finding resources, respite care, enabling appropriate medical care, these are all things that you can do for them.

7. Be very explicit about medical decision making, come to an agreement about the limits of medical interventions (if you can’t, then find them another doctor who can); and be open to changing the plan as time goes on.

8. Refer to the child by name if there is a name. (Annie has often recounted to me that when she sees parents antenatally with a serious diagnosis she will ask them what the baby’s name is. They often become teary and tell her it is the first time anyone has recognized their fetus as being a real potential human being, it is one of the many things she has taught me.)

9. Above all recognize that these babies are human beings who will be loved, who will be cared for, who will leave a positive mark on their families, and who deserve respect.

About Keith Barrington

I am a neonatologist and clinical researcher at Sainte Justine University Health Center in Montréal
This entry was posted in Advocating for impaired children and tagged , , . Bookmark the permalink.

104 Responses to “Our children are not a diagnosis”: the family experience of trisomy 13 and 18

  1. Elissa says:

    Our son Ashley was born in 1990, he was diagnosed with Trisomy 13 translocation 6 shortly after birth. Although things have been hard over the years, lots of illnesses and hospital admissions, Doctors telling us there was nothing they could do for him, saying if he was theirs they would let him go, and it’s not fair on his siblings. Ashley is still here with us now, bringing us joy everyday, He is such a huge inspiration to us as family and others who meet him. We are honored to have been chosen to be his parents.

    • Baby Angelica says:

      I have a niece on the way diagnosed with Trisomy 13. She is due 3/30/13. The doctors gave mom the option to “induce labor” stating baby Angelica will have to have surgery do to the hole in her heart and stomach as soon as she is born. However, mom chose against doctors wishes. Now, they are stating they will not do surgery. They will just wait it out. How can a physician call themselves a doctor when they are not willing to help??? JUST TRY or send her to someone that is willing to. If anyone has any helpful information or resources willing to share in order to save my nieces life please contact me.


      Thank you so much for sharing your story.

      • Hello,
        Attitudes are slowly changing for babies like your niece. Now many hospitals and doctors are prepared to present all the options, providing comfort care alone, active care up to a certain limit, or extensive support. These options are often available depending on the particular situation and the desires of the parents. I will forward your comment to some friends who may have contacts who can help the baby’s parents.


      • Baby Angelica says:

        Thank you so much.    HAVE A BLESSED DAY!! ALICE GRACE MOORE 832-279-7750  


  2. chadandnikki says:

    Fantastic! Our healthcare experiences with Trisomy 18 with our daughter Johanna were mostly positive. We elected for palliative care only for several different reasons and we don’t regret any of the decisions that we made. They were right for our family. Children(and adults too) are so much more than a diagnosis. Thanks so much for this article.

  3. I just want to thank you so much for giving my son, Lane, a voice. He is loving life “Full Trisomy 18” style at 3 and a half years old. We were told after the FISH results came back when he was 3 days old, to just take him home and let him pass peacefully in our arms. However, Lane had another plan…he continued to get stronger and stronger. We then consulted with his Cardiologist at our local children’s hospital to correct his heart condition, but he was denied due to his diagnosis of full Trisomy 18. The hardest part of this journey hasn’t been caring for our special needs child (he’s 1 of 4 children), it’s been researching and finding a medical team that can see him as a child and NOT a diagnosis. We have been blessed to finally get a great team of doctors to care for our son, but I just pray that it’s not too late. You see, Lane is still thriving even with an unrepaired heart condition and pulmonary hypertension. He has a zest for life that is contagious to anyone that meets him. Lane has taught our family how to work as a team and to see what the true meaning of life is. He contributes to the world by making his parents, siblings, family, and friends BETTER PEOPLE. This is Lane’s youtube channel if you would like to meet my Trisomy 18 blessing. http://www.youtube.com/user/alihauber/videos

    Thanks again,
    Alisha Hauber

  4. Greg Pennignton says:

    Hi, I’m Greg Pennington. My second child Gracie still lives as a Blessing in My Heart. She was born in January of ’08 and lived 13 days. Her Tests revealed Full Trisomy 13. She was born at 30 weeks and her mother could have easily lost her battle too if we hadn’t taken Gracie at that moment. The God of Abraham, Issac, and Jacob gave me Gracie. I would never treat the Gifts of a Holy God as a Diagnosis that is worrisome or Useless. If Trisomy Happens again within my family, I will grow ever closer to my God and search for His Will in The Life of Our Family. As we search for America and Pray for God’s Mercy on It, Does he hear, Since we have fostered a Legal code that allows the Murder of millions of HIS creations? I hope HIS Love extends through our guilt and we can once again Say, “America, a Christian Nation.”

    Oh God Heal our Hearts, Our Judgements, and Our Intentions. Please Allow us to
    Turn to your Loving-kindness. Please Father, let this start within me.

  5. Gloria says:

    I echo the many voices who have already responded and indeed thank you for such a compassionate guideline. My son has Mosaic Trisomy 18 and was not diagnosed until he was 7 months old. When I questioned our geneticist on how she would have counselled me, she replied that she would have advised me to terminate my pregnancy. At age 3, Brandon was admitted for a minor surgery. I shared Brandon’s diagnosis with the surgeon and explained that he was doing remarkably well. His next comment left me speechless, “Mom, you are just deluding yourself.” My
    “delusion” is now 15 years old and continues to bless me and everyone else he comes in contact with. Recently, Brandon and I have gone on a number of the Trisomy Websites and have been devastated with the response of the medical community to Trisomy children. Our hearts desire is for others to see that there is hope, and as a result have just posted Brandon’s story.

  6. Thank you for making an effort to pass this message on to health care workers. As an anesthesiologist in Norway, I was quite shocked by the pressure to terminate after receiving a prenatal diagnosis of trisomy 18 in my fourth pregnancy. The shock was even greater when I discovered nobody knew how we were supposed to be followed up throughout our pregnancy when we chose to carry to term. The worst part about our experience was when the neonatologist told us no measures would be taken to save our baby – no fetal monitoring during delivery, no C-section to save the baby, no resuscitation after birth, not even a little bagging. If our daughter survived birth, she would not receive a nasogastric tube for feeding, no oxygen, no CPAP. She would not be permitted into the ICU. All measures were seen as a means to “postpone death” and should be avoided at all costs.
    We received this information a few weeks before our due date. Luckily, we managed to find another hospital where we were allowed a minimum of measures – bagging if necessary, oxygen, CPAP, gastric tube for feeding. Fetal monitoring was still refused, as was intubation (which we never asked for). No tests were performed, only palliative care was allowed.
    I was interested to read that parents who regretted decisions regarding level of care were mostly those opting for comfort care only. Since both my husband and I are anesthesiologists, you would think we knew all the facts about our daughter´s condition. But we were also tricked into believing she was, in fact, incompatible with life, that she was, as they said, programmed to die. They gave us a feeling she was not worth anything, but to us, she was the world.
    Still, in hindsight, we do wonder if we should have fought more for her, “had we only known”. We have later learned that these children do survive procedures, that they can tolerate anesthesia. (You would think we should know, but we did not. We believed in what our neonatologists told us.)
    Our daughter lived for three beautiful days, the best days of our family´s life.
    (http://www.trisomi18.com / http://www.evykristine.com)

  7. smcrosier says:

    Thank you for giving us the opportunity to have a voice. Our son, Simon Dominic Crosier was born on September 7, 2010 and went to heaven on December 3, 2010. He forever lives in our hearts and he reveals his “Simon Signs” all the time. We were told he may only make it a week, well he lived 88.5 days. We were told many of times, “Not for Simon.” Trisomy 18 is “incomapatible with life” and “failure to thrive.” My husband said over and over, “We are not here to expedite his demise.” We wanted Simon special needs and all. “I’m Not a Syndrome-My Name is Simon” will be availbale next month in the e-book version. Thank you Simon! We love you “little man.”

  8. Dear Dr. Barrington,
    I’m vice president and international information officer of LEONA e.V. the support group for all kinds of rare chromosome disorders in Germany. We have quite a lot of members with trisomies 13 and 18 and some also took part in this study. I’m very, very impressed about your comment and especially about your guidelines! Every professional in the health care sector around the world should be obliged to read and above all reflect on them. In our daily work with parents whose children are diagnosed with a rare chromosome disorder we realise that one of the most traumatic experiences often is the way of being told this diagnose and the way of being treated by professionals.

  9. Rebekah says:

    Like so many others, my son, Aaron has full Trisomy 18. We were also told the statistics. Unlike most, we were blessed with an incredibly supportive medical team. I count my perinatologist as an incredible advocate. She told us that it was her job to make sure we understood and were prepared for the worst, but also to help us and give us the information to put us in the driver’s seat. And that while she would be bound by our wishes, we were free to change them at any time. We went with full monitoring/interventions from 20 weeks on. Born by C-section because of significant heart rate decels with delayed recovery, his life has een one miracle after another.

    After discharge from the NICU, when he’s been admitted, he goes to our local children’s hospital in Salt Lake City. There, he has also had increadible support from the staff, from therapists, techs to attendings. Because of this support, Aaron is now 25 months old and loving life. He inspires so many people. But along the way, he’s fought off heart failure, and a few pneumonias, along with other infections. He was diagnosed with severe tracheobronchial malasia (trached/vent dependent) and has pulmonary hypertension. There have been SO MANY times that his doctors could have given up on him. We are so grateful that they see our son as a child with worth. It makes me so sad knowing that others often have to fight so hard. His pertinent medical historycan be found here: http://compatiblewithjoy-trisomy18.blogspot.com/p/pertinent-medical-history.html

  10. Leonie says:

    I am from Germany and my daughter Gesa has a trisomy 18. She is 7 years old, the happiest girl in the world and we are so lucky to have her in our family. Up to now, every medical decision we made, was right in our opinion. Except the first neonatologist we met, all medical personal was quite on our and Gesa’s side. We will never forget what this first doctor said to us (no antibiotics in case of pneumonia, no surgery, only postponing of death, all older children we found in the internet are false diagnosis etc.). Fortunately, to our experience the situation in Germany has changed during the last years (for living children), for prenatal diagnosed babies we are hopeful. Thanks a lot for the advice you give to all medical personnel, I hope many people will take this to heart

  11. Our story of hope with Trisomy 18 can now be watched at http://www.facinglife.tv/episode/season_6/episode_11/episode_611.html Our cardiologist & hospital ethicist are part of 1/2 hour TV program interviews. I hope many more hospitals will come on board and consider surgeries for our children.

  12. Lynn May says:

    I am a mom to two girls. One who had a different birth defect than Trisomy however it was a defect that caused her to pass away only after a few minutes. It means so much to me to have professionals coming forward saying there is change needed. A group of families and friends are getting together to stand and demand change. We have a webpage set up on facebook to share our stories, pictures and together say we are not accepting the term “incompatible with life”. Join us if you would like. Thank you, Lynn May,

  13. Sheila says:

    I am an adult cardiologist and just gave birth through C-section 12 days ago to a bundle of joy, who has physical features of a Trisomy 18. We await for her karyotyping result. We we’re told that she also has features of Dandy Walker on her cranial ultrasound and Tetralogy of Falot on her 2D echo. Our heart bleeds knowing all these medical diagnoses, and as a cardiologist, I felt a slap on my face when I personally saw her heart images. We were also told that she is “incompatible with life”. But she is so strong-willed, and up to this day, she is still with us. She is still in the Neonatal ICU, extubated after 1 week, and is presently tolerating her incremental feeding. For now, we are just thankful to God that she has survived this long, and we hope for the best for her. We know our journey is just starting, and i am glad that this forum exists to help parents like us cope with this life’s adversity.

  14. Pingback: ‘Why were they in such a hurry to see her die?’ | Neonatal Research

  15. tricia says:

    Attitudes are not changing here,when my daughter died she wasn’t given a chance she had full T18 we were told that under no circumstances was she going to be considered for any form of operation for her heart condition,trying to understand why babies aren’t given the chance to live in really don’t understand the medical ethics

  16. gpark5 says:

    My daughter, Rebecca, is looking forward, everyday, to her 27th birthday. Rebecca was born with a 13q/15q translocation. (The extra cell in her chromosomes consists of an extra partial long arm of chromosome 13 and an extra, partial long arm of chromosome 15.) Though she had 3 surgeries as an infant (the biggest was a skull surgery), has a few lingering health issues, and is developmentally delayed, Rebecca can walk, talk, read, and write. I homeschooled her for all but the last two years of her schooling. Rebecca is almost purely a ‘joy-bringer!’ She is one of the kindest, most ready to forgive, most loving people that I know. She loves church, sports, video games, and her group for adults with special needs. I would so much like to take her around to some of the doctors who bombard the families of children with special needs with totally negative prognostications, as if they can read the future of every child and family! Rebecca would knock their socks off!

  17. Patty says:

    Thank you for your guidelines. My niece has full trisomy 13. Kiera was diagnosed a week after she was born and we were told to take her home and to spend what little time was left for her. We watched and waited. Kiera was fortunate enough to have been set up with EDMARC. they sent a nurse to the house who told she would help us to learn how to make sure she lived. Kieara is now over 3 years old and attends the PEEP public school program for children with disabilities. She laughs and hums, crawls and is learning to walk. She uses some sign language to communicate. She brings so much joy to our lives. My sister has found doctors that love and care for her as well. i wish all doctors were so wonderful. Again thank you for listening and taking all of this into consideration. I hope all doctors take to heart that these are children and they should be treated with respect.

  18. ev0ry0mom says:

    We were lucky to have great doctors for our son Evan who had T18. We only had a few doctors who didn’t want to give him a chance and they were quickly culled from his care team. He lived to 5.5 years old and made every second of it count.
    I would add one more item to the list:
    10. Treat what’s actually wrong with the child. Every child is different. There is no “treatment” for a chromosomal abnormality but there are treatments for the problems those abnormalities cause.

  19. Donna Wilkinson says:

    My son is nineteen-years old and has partial trisomy 18/deletion 1 q, but don’t let that fool you. He got all of the birth defects (including heart) as if he had had the whole extra chromosome. He was also given “no hope for survival” and the “incompatible with life” diagnosis at birth. Only the cardiologist and cardiac surgeon treated him like a person rather than a T18 diagnosis. Even though it was like a war against the people paid to treat my child, I will forever remember and be grateful for the one who looked me straight in the eye and said, “I don’t care what your son’s diagnosis is. I don’t care if he has Trisomy 18. He has a VSD. I can it.” And, he did. We need more doctors like him..

  20. Pingback: Komunikace s rodiči – co neříkat | Perinatální hospic

  21. Sheila says:

    i happen to go back to this site today, as i am trying to make a personalized first birthday invitation for our daughter… Such a miracle! She is Elizabeth, about to turn one year in 3weeks’ time. After a bout of aspiration pneumonia, one hospitalization for pneumonia, few episodes of constipation, she is still with us. Never failing to give us joy each day of our lives. I continue to pray that she becomes stronger so we can celebrate more birthdays in the years to come. 🙂

  22. It brings joyful tears to my eyes to see this type of response from a neonatologist! When my daughter was in the NICU (in 2005), her prognosis went from tentative discharge planning to “IF she goes home” the instant the neonatologist saw the full trisomy 18 “quick study” results of only five blood cells! Nothing had changed about our daughter’s condition; she continued to improve at a steady rate. The full results showed the extra chromosome in all 25 blood cells analyzed, but she continued to ignore these results and her health continued to steadily improve. When they ran out of reasons to keep her in the NICU (after only a couple of weeks), the discharging physician said, “I can’t believe I’m sending this baby home…” I’m sure he meant well, but having read all of the literature I had been given on trisomy 18, all I heard was “She could die at any time.” Although our geneticist told us at our 4 month visit that she “didn’t see any reason that Ellie shouldn’t make it to a year and beyond,” I simply could not shake the fear I’d felt since the initial diagnosis.
    The geneticist was right: Ellie exceeded every expectation of a child with full t-18, which prompted a retest with a new blood sample to confirm the initial results when she was around two-years-old. The results showed full trisomy 18 again. When she was a walking, running, talking, somersaulting four-year-old, they took a look at her skin cells and found only 4 trisomic cells in the sample of 34. The dreaded full t-18 diagnosis that seemed to have completely undermined Ellie’s actual physical condition (as far as the first neonatologist was concerned) wasn’t even her correct diagnosis! She’s almost 9 years old now and is extremely healthy and happy and so active we can barely keep pace with her.
    I can’t thank you enough for sharing your reaction to this article and providing suggestions to help physicians interact with families in a supportive, constructive way!

    • trisomyfacts says:

      Thanks Jill! I know 4 other children whose parents have a similar experience. In 1992, a letter to the editor in the Lancet warned of this phenomenon and issued caution for making hasty decisions. The author (N.R. Dennis from Southampton, UK) concluded, “It is well known that serious chromosome abnormalities may occasionally be detected in skin fibroblasts but not in blood lymphocytes.” If it is so well known, why are so few parents made aware of it? In the case of my daughter, only half the minimum recommended number of cells were examined in karyotyping tests.

  23. Michelle Lamb says:

    My son Tristan was born June 26 2015 and he was diagnosed with full trisomy 13. This is the first time me and his dad have ever had to experience something like this we have asked the doctors if they could test him again but they said they wont because they already tested him twice. They say that he might not make it to six months or even a year. I want to know if there are any babies out there with trisomy 13 that didn’t and haven’t passed away. This is my first boy and already he is my world. I just don’t wanna lose my baby boy before he knows me, his dad, or his siblings. Please help me anybody.

    • This must be a very difficult time for you. It is very hard to get good information, and some health care professionals are not very helpful with children with similar diagnoses to Tristan.
      Fortunately there are a number of really great family support groups, and they can help you to know more about the condition, more about the prognosis, and more about how to cope as a family.
      I hope you don’t mind but I have sent your email address to a good friend who is very active in that community,
      Also you could contact directly SOFT (Support Organization for Trisomy) at trisomy.org there are several others such as hopefortrisomy13and18.org and http://www.trisomyonline.org
      All the best

    • Joe says:

      Dear Michelle,

      When my son Troy was born the doctors spotted some problems and ordered genetic testing. When he was a month old they said that he has Trisomy 13. The geneticist explained to us that although he would love if he would become a two year old walking around his office, that the truth was that he will likely die in the next month or two. They said we could try to have another baby and this would never happen again. I looked at my boy and thought I want this to happen again.. not the condition, but I love my Troy! I argued with him that although the condition was serious I didn’t see anything about my son that was going to kill him. He just acted like I was being naive.

      This is my son Troy taking some of his first steps:

      If your little Tristan is already over 2 weeks old he has a fighting chance. I know of many survivors, even 60 years old. I asked God why this happened. At one point I realized it wasn’t my job as a father to determine how long Troy will be here…. that was up to God. But it was my job for everyday my boy is here to protect and love him. I realized if I was given a special boy that only had a short time, I was given the honor to be his daddy and to love him for that whole time. Enjoy each day, week, month. We celebrated Troy’s birthday every month, even with a little cake and let him sneak a bite at 2 months old.. hehe.

      He is now 4 years old, is very loved, happy, and loves playing video games on his iPad.
      The same geneticist now believes he will live a full life and says Troy is making his own path.

      Tristan is already making his own path.

      God bless,

      • tralfazy says:

        Update.. My grandson Troy, who my son Joe mentioned in this post, is now 9 years old and doing fine! Joe loved his special Troy so very much.

    • Ann Barnes says:

      Dear Michelle,

      Congratulations on the birth of your son, Tristan. Please check out the Support Organization for Trisomy 18,13 and Related Disorders (SOFT) at http://www.trisomy.org
      There you will find lots information for families and professionals about Trisomy 18 and 13. The Family Support section and Family Stories will benefit you. Also see the free E-book on the homepage titled Care of the Infant and Child with Trisomy 18 or Trisomy 13.

      SOFT has just held their annual conference in SLC, UT and there were a number of parents who brought their children with full Trisomy 13, including a 15 year old. Parents sharing with other parents is so helpful.

      I hope your son’s condition is stable and that he is receiving the care that you and your husband want to be done.


  24. Tommie Dotson says:

    My niece has trisomy 13 and has been through a lot but just turned 6 years old. We believe she can see and she does family that she sees all the time. She is a little stubborn and loves to have her way. How old is the oldest trisomy 13 child? She has proven to be a joy!

    • Joe Colston says:

      Hi Tommie,
      My little boy seen in the walk in the park video in this email chain is now almost 7 years old. Doing well, loved by all and stubborn as heck! hehe. Oldest living trisomy 13 survivor is over 60.

    • I have no idea how old is the oldest child who has survived with trisomy13, I actually don’t think that is important. What is important is to treat each child as a unique individual, with a goal to do the best we can for each child, and, if they have an extra chromosome and serious limitations, well, that changes nothing in those goals. For a 6 year old girl who is not like the others, let’s try and appreciate what she can do, how she affects the lives of those around her, and make sure that she has the best life possible.
      Best wishes to you and your niece.

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