More than a diagnosis

The latest from Annie Janvier and team, a publication describing the experiences of families in their internet support group questionnaire study. this particular publication is interested in what happened to families that had a prenatal diagnosis, of trisomy 13 or trisomy 18, and decided not to terminate the pregnancy.

The original study, that this new publication is derived from only included families with live-born children. Surely if a family decides that their decision is to continue the pregnancy, that decision should be respected and supported, and facilitated. Unfortunately that often was not their experience.

Many parents felt judged, and pressured, were treated as if they did not understand the actual situation, as ‘anyone who really understands would obviously choose a termination’. Remarkably and sadly, there were even obstetricians who refused to continue seeing a couple who ‘refused’ a termination, and health care workers who told a couple that ‘the best thing would be if their baby dies’. What an awful thing to say to anybody.

Kids with extra chromsomesAnnie’s collaboration with the parents in the project (one of the authors is a parent, the questionnaire was developed and refined with parent input, and she has remained in contact with some parents, and the support groups) led to some interesting insights, one of them being that the parents didn’t want anonymity, they wanted their babies to be recognized and known by their names, not by their diagnosis. So unusually, the legend to the figure shown above includes their names, and shows a very different image of these children to that shown in textbooks.

Family pictures of children. From top left to right: Gianna, full T18 (died 1 week), Nolan, full T18 (died 2 years), Beth, full T13 (died 3 months), Guiliana, mosaic T18 (2 years), Emma, full T18 (died 5 years), Joey, full T13 (5 years), Sofia, full T13 (6 years), Allison, full T13 (died 1 day), Annie, full T18 (died 12 years), John, full T13 (died 1 year), Caitlyn (3 tri 18), Cathal, full T18 (died 1 day), Sophee, full T18 (died 6 months), Bristol, full T18 (died 2 months), Devon, full T13 (17 years).

 

About keithbarrington

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.

18 Responses to More than a diagnosis

  1. Barb Farlow says:

    Thank you Keith for highlighting the article about the prenatal experience of children with trisomy 13 and 18.

    Recently, we launched the International Trisomy 13/18 Alliance.
    http://www.internationaltrisomyalliance.com

    Dr. John Carey, founder of SOFT (Support Org for Trisomy) is our chief advisor. We summarize and track relevant medical publications with a goal to helping providers and parents make informed decisions for their children.

    Here is a link to our first newsletter, with opening comments by Dr. Carey.
    http://www.internationaltrisomyalliance.com/uploads/1/4/8/3/14838122/newsletter_issue_1.pdf

    Also, the first article from the research based on 372 respondents that was published in Pediatrics in 2012 is now open access.
    http://pediatrics.aappublications.org/content/early/2012/07/18/peds.2012-0151.full.pdf+html

  2. Emily R. says:

    Even though my baby is doing very well, considering her condition, many health care workers and others (insurance companies, therapists, etc) will still see her label “incompatible with life”, instead of evaluating her individual condition. I would love to see this changed in the literature, because obviously there are many children who do survive.

  3. Hi, I would like to ask doctors who deal with pregnancies affected by trisomy 13 and 18 to read a Cherished Pregnancy, and refer it to their patients if they feel it would be helpful. It was co-written by myself and a doctor who continued a pregnancy and enjoyed a short time with her newborn who had trisomy 18. http://www.internationaltrisomyalliance.com/ita-booklets-for-families

  4. Thank you for this amazing article! I hope more parents and doctors become more informed with trisomy 13/18 and give their child the best chance at life despite the things doctors could say to parents after thier child has been diagnosed! Our son nolan is featured in this article, during a routine ultrasound some markers were found, two weeks later confirmed he had full trisomy 18. Doctors went on to say we need to terminate because he wont survive the pregnancy and if he did he would die during labour because quote on quote the doctor said “boys dont live with trisomy 18” We went on with my pregnancy and hoped nolan would live as long as he could. He survived 19 months with us with nothing but love and happiness surrounding him, Boys do live with trisomy 18!

  5. Thank you for this article.
    We discovered that our son, Jack had FT13 when I was 20 weeks pregnant. Once we received our diagnosis the high risk doctor mentioned termination and the genetics counselors explained that Jack would either pass within or die during birth. My personal research showed those were not his only options and so I began to focus on fighting the opposition. The doctors said ‘the baby was incompatible with life’ and said that he would not be eligible for labor monitoring, csection, or any intervention because ‘those methods are for saving babies and our baby couldn’t be saved.’ We felt extreme chromosomal discrimination. I was realistic, but didn’t want so many closed doors.

    At 30 weeks pregnant Jack was still growing strong and so we decided to switch hospitals. Children’s Mercy Hospital in KC,MO has an amazing Fetal Health Center and they welcomed Jack as their patient. The staff was helpful on all accounts. They allowed us ultrasounds to learn more specifically about Jack’s heart and brain and they helped us make multiple plans. We had meetings with social workers, Chaplins, hospice, sibling care, etc. They were willing to support us throughout the entire journey medically and emotionally. Once we were able to learn more specifically about Jack’s heart and brain WE were able to make educated decisions about labor&delivery and post birth tests and interventions. It was important that we be given the opportunity as Jack’s parents to decide because we are the ones who must live with the decisions made.

    Once given the freedom of education and choice, we were able to stop fighting the opposition and focus on what was best for Jack, and that provided us with a lifetime free of regret.

    (Jack was born crying via csection at 39w weighing almost 6lbs. His post birth tests confirmed his HLHS and Holoprosencephaly. Understanding the severity of Jack’s specific abnormalities gave us the confidence to hold our son and give him 77 hours of comfort and love. Forever grateful to CMH and doctors like Brian Carter for respecting us enough to make our own decisions.)

  6. Lori reite says:

    Our son Tucker was born with trisomy 13 and was diagnosed after birth. Once the diagnoses was confirmed, some treatments were denied, that is until we pressured them to continue to treat our son like the would a “normal” baby. We made it perfectly clear the we intend to give our child every chance at life that we could. After spending 3wks in the NICU, we took our son home on O2. At six months he no longer needed it. He was very healthy. Never sick or hospitalized except for an eye surgery and his first seizure. He passed away at the age of two from a seizure that I believe could have possibly be avoided had he had a neurologist that was aggressive at treating his seizures. (Whole other story). That being said, 4 years later, through the trisomy 13 support group we heard of a baby born across the country with t13 that needed a home. Remembering the MANY blessings our son Tucker had brought us, we did not hesitate to answer the call. With in 5weeks, we had adopted our son Joey who us featured in the picture above. Today he is almost 7 and he have not regretted making this decision for one minute. He is our greatest joy!

  7. Mel Kerr says:

    Hi my daughter Jessica is almost 15 months old now she has ft13. She is the light of my life and a very happy little girl, she can roll over she is trying to push herself along the carpet she bounces on my legs. I hate people saying she is incompatable with life, Jessica is very very compatable with my life.

  8. Ann Barnes says:

    Thank you Dr Barrington, Annie Javier and team for reminding your peers that these children are more than a diagnosis. I feel fortunate to not have had prenatal diagnosis and the burden of negativity that so many expectant parents must deal with today. Our youngest was diagnosed in 1985 with full trisomy 18 when 2.5 months old, and in hindsight she did remarkably well, living almost 20 years. She was well more often than ill, and a content, sweet member of our family. We loved her dearly! We thought because she had lived so long that our wishes would be respected but at the end of her life, we experienced the same negativity of the newly diagnosed.

    There is an urgent need to educate health care providers about the medical statistics showing 8% survival to age 1 year (without significant intervention) and to know that it is often not certain prenatally as to which fetus will become a part of the 8%. Your article puts a sweet little face on those statistics.

  9. Nai Saechao says:

    Thank you for the article, as we parents in the trisomy community, need to be updated . Sadly to say but in our society, medical teams are not giving us any updated information, only outdated information. If it wasn’t for support groups on Facebook, I would have not know as much as I do now. All I ask of doctors is to acknowledge our babies by name instead of diagnosis. Don’t ignore our baby when our baby is born and alive. Just because of the diagnosis doesn’t mean that our baby is human. It’s just a chromosome disorder. Stop discrimination against disability. Please listen to what we have to say and dont be too close-minded on miracles. Miracles do exist! Respect parents’ decisions and support them in providing the best care possible. We,as,parents, know the reality of what trisomy cells can to do to our precious babies. We know statistics and understand what we are getting into. Our babies are not a burden. They are joy and happiness and bring more love to our family. Give parents information such as government and state help/intervention. Once parents decide to continue with pregnancy after finding out diagnosis, assist the parents the best way possible.
    I say this because my girl, Cora will be 10 months old on 1/14/14. When she was born, my OBGYN and the head chief of the NICU departments ignored and disregarded my beautiful Cora. Her apgar score was 9,9 and even though she was showing signs of making it alive, the doctor wanted to “starve her to death.” Refused any help and refused simple intervention ( to give her a ng tube). There was a DNR on her chart without our consent and knowledge. Her biblirubin went up to 19 because doctor withheld all records fron us. What I don’t understand is how a doctor can just ignore simple life-saving interventions. Please stop this attitude toward our babies! We, as parents, are not oblivious and understand the reality. Dont keep telling us what we can find on the internet. We need support once we decide to continue with pregnancy. Thank you for taking time to read this. Let’s make this journey a partnership rather than being against one one another.

  10. Jill Schiavello says:

    Dr.Barrington, Dr. Janvier and team, a thank you to all for providing continued publication and alternative ethical view point for your colleagues when faced with the trisomy 13/18 diagnosis. My daughter has trisomy 18 and is now 3, her information was part of the original published study. Prior to birth and shortly thereafter, the orientation I received was that NO children survived with her diagnosis. Quite a bold statement…. Eventually I found SOFT and evidence supporting that a low percentage of children were indeed surviving beyond the neonate stage. I also learned that t13/18 children were receiving intervention and thus often exceeding the ‘one year’ survival statistic. I am so pleased newer organizations are forming & working in conjunction with SOFT, such as the International Trisomy 13/18 Alliance, who will continue to track and publish a more balanced version of care approach for the the children. Seeing the trend shift as you-the physicians- continue to pose ‘ethical food for thought’ gives me hope that newly diagnosed families may receive a less distorted vantage point to form care decisions. Thank you again to all for the ongoing effort on behalf of the trisomy 13/18 children and families!

  11. jude says:

    Thank you for this article. My daughter, Kammie, is 16 years old with full trisomy 18. She is included in her high school and likes to travel and go to concerts. The outcomes of these kiddos lives are hard to predict and new families receiving a diagnosis should hear more than just doom and gloom.

  12. Brandy Davis says:

    Thank you Dr Barrington, Annie Janvier and team for helping to educate your colleagues and the public on trisomy 13 and 18. My daughter has trisomy 18 and will be 2 in July. She is doing very well and is such a happy, sweet, content little girl. Our love for her cannot be described. I am very thankful that we did not have a prenatal diagnosis for her, otherwise I am certain she would most likely not be here today due to denial of very basic medical treatments. Once her diagnosis was confirmed 7 short days after birth, she was sent home from the NICU and we were told she would pass away within 2 weeks. No other options were given and I was informed that children with her diagnosis do not live. Through my personal research I found evidence through organizations like SOFT that proved some of these children were living longer and were indeed being offered medical interventions. I am so glad to see physicians like yourselves, and the organizations like SOFT and the International Trisomy 13/18 Alliance put so much effort into educating and providing up to date information on trisomy 13/18.

  13. Kristi Poulin says:

    At birth on 1/23/04, our daughter Sofia was diagnosed with full 13. No major health concerns during the first year. She went home from the hospital after 8 days in the NICU. She did have some hospice nurses look in on her for the first month, but they said she was the healthiest baby they had seen in hospice. Her heart is strong with a small ASD that closed by age 2. She did have GERD and at age 18 mo, had a Nissen and g-tube placement. Sofia will be 10 this month. Recently, her geneticist said she looked “too good to be full T13” and had her retested. Turns out from her blood test of about 20 cells, 55% are T13. She does have epilepsy that is under control by meds and severe osteoporosis. She has given our family much love, understanding and appreciation for the simple things in life. If you ever hear her belly laugh and smile at her favorite song or tv show, it would just melt your heart. We are very fortunate that we have had very supportive doctors from birth till present. We are a military family and my husband, a pediatrician, loves showing her off to all of his residents at SAMMC.

  14. Jenny says:

    We received our son’s T13 diagnosis prenatally at 21 weeks. He was also diagnosed with hypoplastic left heart syndrome, a very serious heart condition. We decided to carry to term with hopes of meeting him alive, and also in order to make memories with him while we could (in utero). Yes there were many tears during those 3.5 months, but there was also MUCH joy. We had maternity photos done, recorded his kicks, made memories, and prepared for his birth. At 35 weeks, he was born still. Despite this, we celebrated his birth with family, friends, many many photographs, and even a cake! While it was sad that he passed in utero, I still have many beautiful memories, which I would have been robbed of had we terminated at 21 weeks. I am a part of a support group of other mothers who chose to carry to term (on babycenter.com), and they all feel the same as me- no regrets and lots of love for their children on earth and in Heaven!!

  15. Thank you yet again, Dr Barrington, Dr Janvier et al, for focusing on the most common chromosomal disorders after Down syndrome. You are truly helping in spreading information about the syndromes to health care workers all over the world, helping to remove the “lethal” label, helping them see that our children are also worth something – worth carrying to term, worth treating, worth loving.
    As one of the co-founders of ITA (www.internationatrisomyalliance.com) and the mother of Evy Kristine (trisomy 18) who lived for three precious days, I am so grateful for you blog and for Dr Janvier et al´s research.
    Thank you!

  16. Pingback: Comments about ‘More than a Diagnosis’ | Neonatal Research

  17. Therese Ann says:

    Thank you Dr. Barrington, Dr. Janvier et al, for highlighting our amazing kids. My sweet child is now 13 years old, living with full trisomy 13. Natalia arrived via a pre-planned c-section (due to previous c-section) at 38 weeks not even knowing of her trisomy genetic syndrome, we chose not to have the AFP blood test at 20 weeks and early ultrasounds did not pic up any problems. Initially we were told Natalia’s time would be brief, we were told the usual expectations with t13, given the option to do nothing, but I urged to treat this child as I would any of my other kids if stricken with a life illness or accident. Which we did, each medical issue was tackled as needed. My child has had surgeries over the years and like you or I, we give her pain meds to heal for a week or so. Natalia has always progressed from year to year. She understands, makes choices and walks with help. She lives a very simple, peaceful life with our family. Its been a joy to care for this sweet soul. The internet has opened up our world allowing us to see the many families and kids who also live this unique life journey. Here are some photos of our little special gal. http://trisomy.org/our-story/natalia-marie/ If you’d like to follow the SOFT Facebook Page, I have the pleasure of updating daily with family stories and trisomy news and events. https://www.facebook.com/Trisomy18.Trisomy13.Awareness.SOFTrelatedDisorders

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