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.
Neonatal Research 
thank you for supporting the families and their children. And yes, sometimes we need all the support we can get.
I like to think that attitudes are changing and that more support will be available for all the many families living with children who have impairments.
Keith
Dr. Barrington,
Thank you so much for this insightful post. I wish every neonatalogist, perinatalogist, and pediatrician would read it! We had a daughter, Mieko, who thrived with Trisomy 18. She was able to walk with a walker and forearm crutches. She played and giggled and brought immense joy to our family. We tried to make the most of every moment. Sadly, she left us at the age of four in 2008. Her pulmonary hypertension became too great, despite earlier open heart surgery. She definitely left her mark on our lives. You can see her videos, including a walking scene that Barb Farlow uses in her presentation about her research, at http://www.youtube.com/trisomyvoices. Thank you for all you do to create and extend awareness in the medical community and for all of the good work you do for children and families.
Mieko’s video was one of those that really touched me and helped me to rethink my own attitudes. Thank you for sharing it.
Keith
I agree Maya, she paved the way for my Annabel. How I miss sweet Mieko.
Mieko gave me lots of hope as well to us with Vera here in Singapore. Vera is 4 and a 1/2 now and loving life!
http://mylittlevera.blogspot.com
Thank you so much for your opinion editorial! I LOVE the comment that “Human beings are not vegetables. These children are conscious and interact, even if at very limited levels. Carrots don’t.” I cannot tell you how many times we have been denied a procedure or option because someone’s opinion of my daughter was that of a “vegetable”. Quite the contrary, she screamed the whole time in one doctor’s office (who later called her uncommunicative and basically a vegetable). She stopped when we left. She was clearly telling me she didn’t like being there and didn’t like that doctor. LOL. If you’d like to check her out:
Blog: http://buddzoo.blogspot.com/
Facebook Page: https://www.facebook.com/rebekah.budd
YouTube Channel: http://www.youtube.com/user/buddzoo
And a GREAT online resource for ALL rare trisomy parents is: https://www.facebook.com/groups/T18Mommies/
KEEP UP THE GREAT WORK!
I think referring to any child as a vegetable is atrocious. I think we need to be much more humble and recognize the capabilities of children such as these, rather than just their limitations.
Keith
Thanks for your comments, they are appreciated.
Debbie Bruns, Principal Investigator Tracking Rare Incidence Syndromes (TRIS) project (http://web.coehs.siu.edu/Grants/TRIS/) and friend of Barb Farlow
my daughter Rebecca lived with T18 for 14 12 years, she was very communicative mostly non verbal she could say da da and occasionally mom but she could really get her point across! she loved attention, hated the dog and had a positive effect on most everyone she met ( even helping one young lady choose a career path) she was maid of honor for same young lady
It sounds like she had a really positive effect, and not just on her family.
Keith
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.
Thank you so much for “getting it” hearing this from a dr means so much. Your opinion peace here is moving. I only wish more Drs could see it this way. My son kayden is 11 years old and also has trisomy 18. He signs mom and dad and will say momma. Vegetable? I think NOT
You Tube Channel: http://www.youtube.com/memyma
Facebook: http://www.facebook.com/marta.johnsonmcclanahan
Blog: http://hopeintrisomy18.blogspot.com
There are more and more of us who recognize that we need to leave behind the old prejudices which date from the last century, and listen to our patients and their families.
Keith
Thank you so much for helping your fellow doctors see beyond a diagnosis to our wonderful children. It is so important to keep expanding the view of what these diagnoses mean and to show the medical world that our children can and do lead rich full lives. I think that most physicians enter medicine because they genuinely want to help their fellow man and by showing them how they can help will only improve the care made available to all patients regardless of their diagnosis.
I agree, I don’t know many physicians who are not motivated (at least in part) by a desire to make the lives of their patients better.
Keith
Dr. Barrington,
Thank you for making a difference. My daughter Isabel is 19 Months old and has Trisomy 13, I am also the Executive Director of Living With Trisomy 13, http://www.livingwithtri13.org/ If more doctors were to have your views and opinions many of these families lives would be much easier. We live everyday knowing what our children’s futures may be, we are not asking doctors for illusions just understanding and equality. This country has been fighting against stereotypes and labels for many years but yet we still allow our children to be labeled. As parents we are asking for all the tings you have outlined in your post, I hope that many professionals will read your words and they can make a strong impact!!!
Thank you again for being a voice for our children.
I hope that Dr Janvier’s article makes a difference, and that my blog points people to it. You aren’t usually expected in a scientific article to make recommendations, that’s why I wrote my blog post, hopefully people will read it and change the way they interact with families such as yours.
Keith
It is heart warming to read of the miracles these 13/18 children work in the lives of their families and those who know them, and especially welcome to hear positive comment from a professional.
Annie, Barb, and Ben deserve a lot of credit for what they have done. Despite scepticism, lack of funding, and a few negative attitudes, they have succeeded at making the voices of parents heard by pediatricians. Now we need to make the obstetricians hear this as well.
Keith
Out of the 3 I only know and have met Barb . What a beautiful work she continue to do for her sweet Annie. But sounds like the three can do great works together.
Thank you! Big call to go out on a limb and be the very first on the road of change. For 2 days our son Luke stayed, and left a lifetime of love and changed us in too many ways to express, the youngest of our world need our support.
I would like to claim to be the first, but there are many who have been here before me! Your comment reminds me that the worth of a life is not measured by how long it is, but by how it affects others.
Keith
Keith…thank you for serving as the conscience for us neonatologists. Reminds me why I loved working with you in San Diego. For years obstetricians, perinatologists and neonatologists have determined that due to our own biases towards severe physical and mental handicaps, parents of children with a diagnosis of trisomy 13 or 18 should be told their children have a lethal condition. This has included advising abortion or limitation of even basic life sustaining support after birth. The end result of these lethal prophecies has been…shockingly…lethality. Neonatologists have spent so many years assuming they know what is best for families of these children that, even when the evidence was clear, we have refused to honestly engage and ask families what they would like for their children. We have willingly advanced this paternalistic role with language that includes “quality of life” and “relief of pain and suffering”. Sadly, as neonatologists have cast off the duty of service to individual patients and families, we have enthusiastically accepted the role of steward of resources. How much resources would have been required to consider trying to tube feed decades of these babies and allow them to go home with their parents? We have a lot of explaining to do for past sins. It is time to start making up for these transgressions. Thank you for eloquently stating the case Keith and marking the path we have a duty to embark upon.
I don’t want to be the conscience of neonatologists, just being my own is tough enough! I agree with everything you say (after the conscience part) and, of course, it isn’t just these trisomies. The other article which appeared on-line simultaneously, about spina bifida (Pruitt LJ. Living With Spina Bifida: A Historical Perspective. Pediatrics. 2012), says some of the very same things about that condition that you bring up.
There are so many people of good will, like you, that I am sure we can make a difference.
Keith
Some have greatness thrust upon them Keith! Whether intended or not your public examination of conscience is one we all need to undertake as neos.
I agree that there are few docs I know who do not believe they daily are making the best decisions for their patients, the problem is that many view such decisions in the context of greater societal good. The family and the patient all too often get lost when physicians see their loyalty to the greater good. What is necessarily sacrificed in assuming this role is the ability to see the humanity of our patients and families. As you note, this phenomenon applies to a multitude of conditions including all the trisomies, spina bifida and others. Simply, in this day and age, what some doctors as the greater good for society is not what families or patients, when fully informed, perceive as their greater good.
What a great response to hear from another neonatologist! From our personal experience, we have received the “quality of life” and “relieve pain and suffering” speeches. Even the “save your money/time for your other kids” conversation. In fact, when seeking an additional cranial remolding orthosis for my daughter, who was past the age of 18 months (but developing slowly), I was told by the neurosurgeon to “stop doing to her and start doing for her.” This was the same doctor that called her uncommunicative in the appointment notes, because he based his assumptions about her on her diagnosis, an MRI, and 5 minutes of being in a room with her when she was unhappy and crying. Well, my full trisomy 18 daughter, at the age of 3, may be nonverbal, but she is anything BUT uncommunicative! In fact, she is quite a sassy toddler and has many opinions on many things. And then there is the quality of life issue… Her quality of life is better than most people! She is happy all the time and loves to socialize with people. She brings joy to many around her.
I truly hope that neonatologists like both of you can help lead your colleagues, and the geneticists, and the surgeons, and especially the residents – the future doctors of our children, down a new road of treating our children as children first, and not as a label.
My beautiful daughter, Addison had T18. She taught us so much in her 142 days here on Earth and we would do it all over again in a heartbeat! Thanks for educating the people out there, especially those in the medical field. Blessings!
Thank you for taking a positive position on caring for our children and showing that our children have a very important place in our lives…in our families. We were very fortunate in having wonderful care for our son Caleb. He lived an amazing 29 months. It is because of the care that he received….with love, dignity, respect…..that we can have some peace now that he is no longer with us. I take every opportunity to let Medical people know that above anything else this is what we hold on to on this side of the journey and that is invaluable. We worked as a team to give Caleb the best chance at a good quality of life……I wish this for everyone but I know that isn’t always the case. So thank you again for this article.
Dr Barrington,
Thank you for your support and honesty about how others should look at and treat our children! I love so many of the things you said (i.e. humans are not vegetables, not compatible with life, marriages, etc, etc) and hope that others will begin to open their eyes and treat our children with an open mind and not an assumption! My daughter, Jordan (full T18), lived for three days and although it wasn’t long enough for us, she was loved, touched so many (and opened their eyes), and changed our lives forever! We had supportive care but had to travel 5 hours to find it! I work in healthcare and your words are a breath of fresh air! I hope others will follow your lead!
Thank you!
Cindy Chamberlin
Pediatric PT and Mom to Jordan Elizabeth (6/4/09 – 6/7/09)
The guidelines you suggest above can have such a powerful impact on families caring for a child with t13 or t18. Speaking as a parent to a precious daughter with trisomy 18 (who lived to be one year old), we know that our children will face challenges. Having physicians who will show empathy instead of discouragement makes those challenges easier instead of harder. We are grateful to those of you in the medical community who are able to see our kids and our journey as valuable.
The above guidelines can have such a powerful impact on families expecting or caring for a child with t13 or t18. I am a parent to a precious daughter with trisomy 18 who lived for one beautiful year at home with our family. Yes, these children face challenges, but having physicians show empathy and support instead of discouragement makes those challenges easier instead of harder. We are grateful to those of you in the medical community who see our children and our journey as valuable.
Dr Barrington,
Thank you for taking the time to truly understand a child with Trisomy 18/13. Their life is one of pure beauty and love. My daughter Emalee (full t18) lived 8.5 beautiful irreplacable months. In her short life here on life she taught not only myself but my family and friends just how special every breath we take is. Upon recieving her diagnosis at 6 days old it was gloom and doom. I chose to be her voice and do what was possible for her to sustain a life full of love. We were told she would show no emotion, be a burden to my family, take away from my other child. She was none of that! She smiled, she sat up, her eyes were so heartwarming to look at. My son was 3 years old when Emalee was born and he saw beyond the feeding tube and oxygen. He saw his baby sister who he loved and adored. They were the best of friends and in every picture of them the love they have for each other just radiates. If Emalee would have had no impact on our lives (as Dr.s said) why do our hearts ache to be with her again. My son, now 5, longs for his sister. If she took away from him why does he cry out for her and wish her back. Her short life had meaning and I wouldnt trade one ounce of the heartache I feel everyday if it meant not having her. She will always be the miracle that made our life complete! Thank you again for your kind words and understanding. They mean so much!
Sincerly,
Angel Whaley
What an amazing op ed piece! Thank you from the bottom of my heart. I think change is on the horizon 🙂 My daughter, Caley was born 22 years ago with pt-13. We were told every negative….not one positive. We took our daughter home and waited for her to die. I am so happy to say she is still with us! She is non verbal, though uses her ipad for speech…well she is mostly perusing you tube videos. We still cant figure out how she finds the videos of kids getting on school buses and other ones which she saves in her favorites. She made her first communion, walked unassisted at the age of 5. She is our 3rd child out of 6 and is treated like a typical sib by her siblings. She graduated high school with her younger brother and stole the show 🙂 She is an amazing young lady. I hope she stays with us forever. I hope many docs read this as we have come across too many who still don’t address her…to which we reply…ask her 🙂 Thank you again!
Dr. Barrington,
I am Jill, mother to beautiful Giuliana Lynn (t-18) who is just shy of celebrating her second birthday. I thank you for your eloquent and open minded post about our precious trisomy 13/18 children. I am humbled by your laying out of a step by step approach to your own colleagues, and presenting them to challenge their traditional, possibly even biased way of thinking when faced with parents and children w t 13/18. It is clear that the collaboration between both parents and physicians is absolutely essential in changing the future approach and treatment options for this dx. More doctors such as yourself, Dr. Janvier, and Dr. Wilfond, are the key to helping parents like Barb, myself and so many others have our voices really count. I certainly hope the new publication is just one of many to come, and that more may consider adopting this new, more realistic mindset when dealing with a diagnosis that has been labeled “lethal.”
Thank you for taking the time to respond to all of us…God bless. I also invite you to check out http://www.trisomyhelp.org and pass this along if you ever come apon another trisomy family..6 of us parents started this group to help other families.
Barb Farlow I also would like to thank you many times over for all your hard work..we love you
Thank you so much, Dr. Barrington, for attempting to enlighten other doctors to the fact that T-13ers and T-18ers need to be treated with as much dignity and respect as any other human being. And that they need to be treated as well. Twelve years ago our daughter was diagnosed in utero with t-13. We were given nothing but negative info…incompatible with life, won’t live more than a week, terminate now. We were given a tour of the NICU, not the maternity ward, etc. Everyone at the hospital spoke to us in hushed terms. I had a fever for over 12 hours but no c-section because I was told it was unnecessary surgery. Hannah is almost 12 now and we just got home from her latest swim meet where she (all 5’4″ of her) swam 50 freestyle and 50 backstroke! Hopefully with your advice there will be more of our wonderful kids in this world!
Dear Dr. Barrington,
Thank you for your guidelines for doctors and others when working with families who are blessed with a child who has trisomy 13 or 18. My family was told our son Peter would lead a horrible life of pain and suffering and would be a terrible burden to our family. We were told there were no survivors beyond 2 weeks with t-18 and we should just let our son die. When we found out there were many children who lived beyond 2 weeks we asked the doctor why he lied to us. He told us that they had to think about resources and that Peter would never be able to contribute to society. We insisted on treating Peter as we would our other children. He lived 6 1/2 years and was a great joy and blessing and the happiest person I have ever met. He died after having his appendix removed under very questionable circumstances. Many families would agree that the hardest thing about having a child with t-13 or 18 is not their diagnosis but the cruel and heartbreaking attitudes and stereotypes to many health professionals have concerning our children. Barb is a dear friend and all the families thank her and the doctors who conducted this study. We all hope that doctors will look at each child as an individual who is worthy of the care and respect any other child would have. By the way, Peter did contribute, not only to his 10 siblings and parents, but to many, many others. He inspired a non-profit organization called Prenatal Partners for Life, http://www.prenatalpartnersforlife.org. We offer support, information and encouragement to families who receive the news that their child may not be healthy, either before or after birth. We have supported families in every state several times over and 29 countries. Please continue to be a voice of compassion and truth for the families you work with. Thank you and God bless, Mary Kellett
In this blog post by Seattle Children\’s Hospital, a pediatrician who is also the mother of a child with full trisomy18 who had cardiac surgery, describes her experience with social networks on her own personal journey.
http://pulse.seattlechildrens.org/social-networks-serve-as-source-for-parents/
After our son was born he was diagnosed with Trisomy 13. We met with a geneticist after the confirmation who told us our baby wouldn’t live… that he would most likely die in 1 or 2 months. He said it about 20 times to make sure that we understood that there was no reason to hope. While my wife held our baby in her lap, tears coming down her face, his assistant told us that when the time is right we can try again and this wouldn’t ever happen again… they would help us by doing an amniocentesis next time. ‘This never happen again?’ I thought… I love my little guy, I would only be so lucky to have this happen again. My little boy is now 13 months old and going strong. He recently said some words and is pulling himself up to a stand. He’s changed our lives to being more meaningful and we love our little boy so much.
Thank you for helping other doctors to learn how to interact with us a parents and our children. My daughter Arianna is 6 years old and has full Trisomy 13. We have been blessed to live in Utah and to have Dr. John Carey here to help us in her life. We have not encountered a doctor that would not provide care and medical/surgical procedures to help in her survival. We also know that treating Arianna as any typical, including her in every family vacation and outings, and not letting her get away with sneaky behavior, she is a trickster. We treat her with the same love and caring that I do for my other children, I do not live my live as ‘what if she dies?’ I know that someday she will leave us, but we have many more days to enjoy before she goes and we don’t let it loom of our thoughts. Our adventures are available to enjoy here, http://ariannajoliesnell.blogspot.com/, Please feel free to share and enjoy her!
Julianna
Thank you so much for your support! My son has Trisomy !3 and is 13 years old. He walks independently and loves to swim, watch sports, hang out with his 2 older brothers and go to church. He doesn’t talk, but communicates by taking us by the hand and leading us to what he wants. He understands what we say and can follow simple directions. He is pure joy and we are so thankful and blessed to have him in our lives. We owe a lot to his doctors who were willing to fix what was fixable and help us manage the rest. Thank you again for being a leader and educating others in your profession. As parents, all we want is to be allowed to have hope, and help to give our children a chance to live.
Thank you for pursuing a Family-Centred Care Practice article focused on who the children really are and how much their lives mean.
Like Barb Farlow, whom I had the pleasure of knowing, my daughter too, Samantha, was born with a rare chromosome disorder, Tetrasomy 18p Syndrome, and is now an angel at 13 years.
My family’s story is quite long, but a video was made on our behalf to explain circumstances rather concisely. It also puts into perspective, the need to distinguish and return constantly to Policy which will ethically align with basic human rights and freedoms. http://www.youtube.com/watch?v=vmz_bujDPDk
This, is how I came into my advocacy and work as the Administrator for Tetrasomy 18p Canada, http://www.tetrasomy18p.ca/ Spokesperson for Protecting Canadian Children, http://protectingcanadianchildren.ca/ and Co-Chair for our local rehabilitation hospital pediatric Family Advisory Counsel. I never want to see what transpired in another family’s life.
Slowly, some ignorance is falling away and changes are arising. My daughter is the catalyst behin amended legislation in the Province of Alberta. SAMANTHA’S LAW: Caring families of chldren with medical and developmental diversity are to be served distincty from the Child Intervention Model. Familes must not be forced to surrender guardianship, nor coerced into our of home care in order to access government supports and services. http://www.edmonton.ca/for_residents/awards_certificates/city-of-edmonton-mayors-velvet.aspx
Kind regards!
Velvet Martin
Claire was diagnosed with Trisomy 13, or Patau’s Syndrome, in the months following her birth. It is a life-shortening syndrome. We discovered through an international support organization that not all children with Trisomy 13 die young and that the presentation for each child is unique. The future was uncertain, but we were “good to go” with what lay ahead.
At the age of nine, Claire was considered a long-term survivor….certainly in Newfoundland and Labrador, Canada (we knew no other children with Trisomy 13). Claire had severe global developmental delay and was completely non-verbal, but she understood most of what was said to her as long as the concepts were basic and familiar. When she was in the mood, she used pictures to communicate. She required constant supervision and 24-hour care, but she was medically healthy. She rarely missed a day of school. Our goal was to keep her safe and happy, and we took great care in doing just that. Claire died unexpectedly and tragically at the age of 9 years and 5 months and tragically after a planned surgery.
Living on a relatively small Island on the East Coast of Canada we were fairly “isolated” with a diagnosis of Trisomy 13 and social media in 1998 when Claire was born was definitely not as expansive and informative as today. I remember when Claire’s condition became grave in the PICU days before her death we were calling physicians and families all over the world from Ireland to Australia and through Canada and the United States attempting to find anyone who could shed some light on what we were seeing in Claire’s case postoperatively. During Claire’s life we did the best we could with the resources we had but I often wonder if our road would have been a little easier had if we been connected like the families are today….
This research, the blogs, the opportunities to ask questions and leave comments – all so valuable to parents and families! Thank you for the opportunity to include our experiences in this study.
Raeline McGrath (Claire’s Mom)
St. John’s NL
Thank you Dr Barrington for your guidelines for facilitating a respectful discussion between heath care providers and parents of children with trisomy 13 or 18. There were no social networks when our daughter was born with trisomy 18. Our geneticist put us in contact with the Support Organization for Trisomy 18, 13 and Related Disorders (SOFT – http://www.trisomy.org) which became a lifeline of information and support for our family. Last week Barb Farlow, as well as many families who participated in this study (our family too), attended the 26th annual SOFT conference in St Louis where Barb shared her excitement about the publication of her study in Pediatrics. I hope this scientific study about families who have children with trisomy conditions will enlighten physicians and give doctors a reference that allows them to partner with parents in decision-making for their child. Barb Farlow and Drs Janvier and Wilford are to be congratulated for their achievement in presenting positive information about our children in Pediatrics.
correction- the name in the last sentence is Dr Wilfond (not Wilford)
My daughter Leila has full t18 and will be 7 months this Saturday. She is such a blessing to her family. We were fortunate enough to find doctors to treat her, but not without a fight including the ethics committee at the hospital. Her open heart surgery is now scheduled for September. Leila coos and smiles and is certainly not a “vegetable” as so many like to call our children. I can’t describe how much it means to us to hear you refer to them as human beings who deserve respect. That’s what we all want. We too heard that she would ruin our marriage, but that certainly is not the case. Thank you for your positive blog and for being a voice for our children. We sure do appreciate it.
My daughter Casey will be 21 in November….I often think how many times I was told she wouldnt live through the night…past a week…past a month…past three months…six….ect..ect..ect…She is such a strong happy kid!~…I am so thankful for everyday that I have had with her…It is so nice to see something that portrays the positive instead of all the negative….Parents that have children with disabilities need to be able to focus on enjoying the moment…not what may be someones oppinion solely based on a number.
Casey has full Trisomy 13…
Thank you for putting all our experiences together and showing the world that Trisomy doesn’t always serve the pain and heartache that was guaranteed to us. It was an honor to do this survey. Especially since my 4 1/2 year old daughter with full Trisomy 18 is everything she was supposed not to be. She walks, she signs and speaks some words, she too gets her point across VERY well. She is fed via g-tube, however, we are in a clinic to teach her to eat, she loves to eat the things that are safe so I’m confident we’ll get there. She’s working on potty training right now and has hit it once! She brings me her PEC card and we go sit on the potty(she gets it!- just waiting for it to fully come together).We have been so blessed and anyone who knows my daughter will agree that our lives are fuller and much happier having her in it. Thank you again for your support and for showing the new families that are coming into our world that these kids/people are amazing and the world would be a better place if we all just an ounce of the passion/love for life that my daughter has.
Hello. My son, Owen was with us for one magical summer. Owen has two big sisters that would have done anything to meet him and keep him. Was it ideal…no, but it was worth every single minute we had with him. We would do it over and over again. Owen taught us what it means to be a family, to fight for the right to live your life, to laugh, to play, to dance, to sing. Owen means ‘young warrior” and that is what he was and still is to us. We all become his warriors. Thank you for being the kind of doctor that looks at our children as someone worth fighting for. God Bless you.
This is so accurate about how our family feel. My daughter is full t18, named Annabel and radiates nothing but joy. Yes she is delayed, but no one said we all had to be on the same level to be important to society. Each one of my family members would tell you how much Annabel and her life has taught them and continues to teach. This article gives great advice for doctors to share and how to care for each family.
Our daughter Cati is full T13 and will be 15 months soon. She is the happiest little girl, loves and interracts with anyone and it is obvious that she adores her father, she is enrolled in a neurodevelopemental program and is making lots of progress- she started crawling recently- and all the doctors in Romania (this is where we are from) have been most kind and supportive. They all fell in love with Cati and her sweetness. She has changed lives, quenched fears, gave hope and courage to so many people! She has a sense and a purpose and she is definitely a blessing in our lives.
Thank you so much for your support! My son has Trisomy 13 and is 13 years old. He has been walking independently since age 4. He loves to swim, watch sports, hang out with his 2 older brothers and go to church. He does not talk, but takes us by the hand and leads us to what he wants. He understands almost everything we say and can follow simple commands. He has had several surgeries to fix what was fixable and all have been successful. Thank you again for being a leader and educating others in your profession. As parents, we just want to be allowed to have hope and to have help giving our children a chance to live.
We’ve had 20 fantastic years with our daughter who has full T18. We were lucky that she was born in the right part of the UK where paediatric care has been very supportive . Also extremely blessed that her body has huge healing capabilities of its own. We’ve been encouraged to give her as many experiences as possible and I truly believe it is the busy and fulfiing life she leads combined with caring medics that keeps her going. Moving to Adult services in the Uk within the last year has not been so good and I do worry now that with our Govt’s huge austerity programme in all areas we may struggle to ensure we capitalise on the excellent work of the paediatric team.
When I was pregnant with my daughter Lucy we knew she might have greater issues then “just” the cleft lip that was confirmed. I was frightened to get an amnio for the sake of my daughter and felt that no matter what they told me I was giving this baby a chance. Lucy was born at 38 weeks and lived for 6 days. She actually passed away exactly one year ago today. Its been a tough year, and thats an understatement, but i can say with my whole heart that I wouldn’t trade her for any other baby in the whole wide world. The neonatologist that treated Lucy was outstanding and very caring. When he gave us her diagnosis he also prayed with us and said he “didn’t believe in chance.” I have been horrified to hear about terrible experiences that other parents have gone through and I’m so glad that you are sharing your perspective with others, Dr. Barrington. Thank you. These babies are absolute blessings and the love that Lucy has taught us is helping us to impact others.
I would like to say a few words about the wonderful doctors we have encountered on our now 3 1/2 year journey with our daughter Renee; we have the great fortune to live in MA within an hours drive of Boston Children’s Hospital and we have had wonderful care there by an outstanding team of doctors. Now I do not pretend that it has all been sunshine and roses but the good def. has outweighed the bad and I would like to say huge thank yous to her doctors; I will not list them all but I would be remiss if I did not say that without Dr. Russell Jennings I literally would not have my precious girl as he performed her first life saving surgery when she was 12 hours old. I thank God for his skill everyday and especially whenever she takes food orally as she would not be able to do that without his skillful repair of her EA/TEF. I hope that this article continues to expand the minds of all the physicians out there to give our kiddos a fighting chance and may all the T13 and T18 kids out there get the same chance that is now routinely given to the T21 kids so we can all marvel in what they are able to achieve.
Had this survey reached out to the siblings of trisomy siblings, the findings would have been much of the same. These children are our favorite siblings, our best friends, the ones who teach us amazing life lessons w/o ever saying a word- They are far from ‘vegetables’.
Thankful for a study being published that gives an accurate look at what a powerful impact our children with Trisomy 18 and 13 have in our lives and especially our families. Grateful for our Lyndsay who has full Trisomy 18 and is now 12 years old. She was able to have heart surgery at 2 weeks old at University of Virginia Hospital weighing only 4 lbs and now is 56 lbs. She is such a blessing in our lives and the lives of people in our community and our church.
When we found out that the long awaited for child I was carrying had abnormalities – our world fell apart. We had a rather obnoxious doctor tell who that the best thing we could do would be to terminate the pregnancy – this was based on a single scan! Needless to say, I told him we would go away and come back, which we did – to see an amazing doctor who got us through the pregnancy with hope but fully informed of the facts (as she knew them)
It was Tracey that confirmed some and dismissed the rest of the abnormalities seen on the first scan, Tracey that called us with te results of the amnio, and Tracey that kept us fully informed all the way along of her progress and provided us with many, many scan photos.
When we met the neonatologist, it all fell apart again. We were told that only palliative care would be offered – they literally wrote my Daughter off. There was a possibilty that her oesophagus wasnt fully formed and when I asked how we would go about feeding her – they said we wouldn’t. I asked about putting a line directly into her stomach and was told that this wasn’t something they would do as it would case her more pain and really they wanted to keep her out of as much pain as possible for her short life.
After basically being told my child wasn’t worth the effort – my heart lifts reading your post. To know that someone out there is listening and understanding is amazing. I hope this is the beginning of these wonderful children being treated with the dignity that they deserve and the start of them being seen worldwide as people, not a syndrome.
Thank You for this Dr. Barrington,
The birth and life of our daughter Angela has been the singular most important event of my life, and in the life of my family. We would not trade her life (as difficult as it has been at times) for anything. We are one of the families behind the study you cite. If you want part of the story behind the statistics you can read the account of Angela’s birth in the current edition of Lifelines: A Literary & Art Journal from The Geisel School of Medicine at Dartmouth (page 66) at
http://geiselmed.dartmouth.edu/lifelines/current/
or view our family albums (with copious pictures of Angela) at
http://www.dartmouth.edu/~ricker
Not bad for a child whose condition was deemed “incompatible with life”.
Sincerely,
David W. Ricker (father of Angela)
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Thank you for bring attention to our wonderful children is such a positive way. My son Lachlan just turned two. He has T18 and we love him to bits. His Paediatrician has always treated him like a valuable individual but he is surprised by his progress as generally it seems there is not much research into the children who do survive birth and beyond. Like many other I have encountered other doctors who have a very negative view. In fact the first doctor who told me when I was pregnant that my baby might have T18 said ” if this was determined to be so then I would be scheduled for a termination” as though it was the only possible choice? My blog for Lachlan is lachlanandt18.blogspot.com.au Thanks again to all involved Rachel Lachlan’s mum in Australia
Dr. Barrington,
As the parents of a special needs child, your article is like a breath of fresh air riding on the winds of hope. When our daughter, Lilliana, was born 14 mos. ago, our only hope was our trust in God. We were asked if we wanted any monitors and encouraged to keep a DNR letter on us at all times to protect ourselves. We were in shock with the diagnosis and grieving for the perfect child we had envisioned. We asked if our daughter needed any monitors & were told No. We trusted what we were told.
During our last meeting before discharge at 8 days old, we were compassionately told to take Lilliana home and love her for as long as we could. Of course with the focus on dying and Trisomy 18 statistics, we did not think to ask questions about the 5-10% of children that live to one year of age. We were sent home with no help, no hope and an OG tube.
We believe God led us each step of the way to protect our daughter. Through a series of events, people were placed in our path that led us to the facebook group for Trisomy 18 Mommies. Here we saw visible proof that some children lived and learned & most importantly were loved by their families.
Those early days could have been so different, if the doctors we encountered had followed your above advice. Instead of despair and indecision trying to decipher if the specialists were telling us the truth, we could have concentrated more fully on loving our daughter and addressing her needs in a more timely way. You see, we had to first make the decision that the hospital system we were in was not interested in helping our daughter, then we had to find one that was wiling to repair her heart before we could address her feeding problems. We are so thankful that the cardiologist we found wanted to help. On our first visit, he told us that Lilliana needed surgery and she should have it. But first, he said we will have to see if the hospital is on board to treat your daughter. He also told us that this attitude of not treating Trisomy 13 & 18 needs to be changed, just like it used to be for Down Syndrome patients.
I am happy to report, our Lilliana received the first open heart surgery for a T18 patient at Peyton Manning Children’s Hospital in Indianapolis and she is doing great and developing more each and every day. Lilliana’s story will be featured on the TV program, Facing Life Head-On airing the week of July 29th at the website http://www.facinglife.tv.
Thank you for encouraging other doctors to share hope with the parents of Trisomy 13 & 18 children.
Thank you Dr Barrington for advocating for our children.
My daughter Tessie is full T18 and 151/2yrs old. We live in Australia and have also faced discrimination and ignorance from doctors blessed with what I call “the God complex”. I am a physician myself and have been able to access services for Tessie that she may not have been offered. Now at the age of 15 the doctors who treat her are amazed that she is still alive and put this down to the fact that I am a doctor. They still do not see the value in caring for and respecting children like Tessie. I am still asked questions like “what are your long term expectations for Teresa” when we were recently faced with potential admission to ICU. The prevailing attitude is that admission to ICU is to be avoided at all costs for kids like Tessie. Some of our paediatricians are already suggesting Tessie’s transfer to adult care even just after her 15th birthday. No wonder I feel they want to get rid of us. As a member of the medical profession I am ashamed.
I hope some of your collegues from Australia read your blog anf I congratulate you on your compassion, intelligence and courage.
Thank you Dr. Barrington.
I have a 3 year old son named Noah who has full Trisomy 13.
This is how doctors see my son…É assim que eles vêem meu filho…
Abdominal Pain ( Dor Abdominal)
Aerophagia ( Aerofagia)
Anemia
Bacteria in Urine/UTI ( Histórico de Infecção Urinária)
Blind (Cego)
Cleft Palate ( Fenda Palatina)
Dandy Walker Malfomation ( Mal Formação-Dandy Walker)
Developmental Delay ( Atraso no Desenvolvimento)
Electrolyte Abnormality ( Eletrólitos Anormais)
Elevated Liver Enzymes (Enzima do Fígado Elevada)
Feeding Difficulties ( Dificuldades ao se Alimentar)
Gallstone ( Pedra na Vesícula)
Gastrostomy ( Gastrostomia)
GERD Gastroesophageal reflux Disease ( Refluxo)
Infantile Spasms ( Espasmos Infantil)
Metopic Craniosynostosis (Craniossinostose Metópica)
Microphthalmos ( Microftalmia)
MDS Myelodysplatic Syndrome (Mielodisplasia)
Obesity ( Obesidade)
OSA / Obstructive Sleep Apnea ( Apnea Obstrutiva do Sono)
Otitis Media ( Infamação no Ouvido)
Oxygen Desaturation ( Desaturação de Oxigênio)
PFO/ Patent Foramen Ovale ( Forame Oval Patent)
Renal Cacinosis ( Calcificação nos Rins)
Renal Cyst ( Cistos nos Rins)
Respiratory Distress ( Desconforto Respiratório)
Seizure Disosrder ( Convulsões)
Snoring ( Ronca ao dormir)
Tracheomalacia ( Traqueomalácia)
TRISOMY 13 ( TRISOMIA 13)
Umbilical Hernia ( Hérnia Umbilical)
Wheezing ( Chiado no Peito)
But, This is how we see Noah…..Mas, é assim que vemos o Noah….
Adorable ( Amável)
An Exception (Uma Exceção)
A Gift from GOD ( Um presente de Deus)
A Miracle ( Um Milagre)
Blessing (Abençoado)
Bright ( Brilhante)
Champion ( Campeão)
Chosen by God ( Escolhido de Deus)
Courageous ( Corajoso)
Cuddly (Fofinho)
Fighter ( Lutador)
Funny ( Engraçado)
Graceful ( Gracioso)
Handsome ( Lindo)
Inspirational (Inspiração)
Unique( Único)
More than Special ( Mais do que Especial)
Noticeable ( Notável)
Perfect (Perfeito)
Persevering (Perseverante)
Persistant (Persistente)
Precious ( Precioso)
Rarity Raridade
Reason for Joy (Motivo de Alegria)
Rule Breaker (Quebrador de Regras)
Smart (Esperto)
Strong Little Boy ( Menininho Forte)
Stubborn (Um menino de Personalidade Forte/ Teimoso!!! 🙂
The Lord’s Inheritance (Herança do Senhor)
Vibrant ( Vibrante)
Victorious (Exemplo de Superação)
Winner ( Vencedor)
Witness of God ( Testemunho de Deus)
Yummy (Gostoso) 🙂
He makes us have more faith, hope, and love in our Lord every day
Nos Faz Ter Mais Fé, Esperança e Amar ao Senhor Cada Vez Mais
MORE THAN THREE YEARS OF MIRACLES!!!
MAIS DE TRÊS ANOS DE MILAGRES!!!
Praise the Lord!
Noah’s story on Video: http://www.youtube.com/watch?v=oIIqgFH2SII
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