Communication ability in persons with trisomy 18 and trisomy 13

As a neonatologist there is much important pediatric literature that I do not follow. There is much that has relevance to what we do in the NICU, so much that no-one can keep up with it all.

Many of us are involved in antenatal counseling, and we need to try and stay informed about the long term consequences of the antenatal diagnoses, which is rather a challenge, with everything else we should know, but I will try and help!

A recent comment from a parent on this blog referred to the following paper, which I followed up and found extremely interesting: (Braddock B, McDaniel J, Spragge S, Loncke F, Braddock SR, Carey JC: Communication ability in persons with trisomy 18 and trisomy 13. Augmentative and Alternative Communication 2012, 28(4):266-277.) the authors analyzed the communication skills of some adolescent and young adults who had trisomy 18 and 13. They found that they all were able to express some of their needs, although none of this very small group of 10 individuals had recognizable words, they could all vocalize. Their understanding was greater than their ability to express, and they mostly were able to use hand gestures. Some of the commenters on this blog, and a few other publications, report that there are persons with these trisomies who are able to produce some recognizable words.

I think it is important to know the abilities of children such as these, not just their disabilities. To have an idea of what they can do rather than just to focus on what they can not do. Counseling parents with balanced information necessitates that we know some of this information. Even with the help of this blog though, you won’t be able to keep up with everything, so it is a good idea to have some readily available resources, and in today’s wired world, there are some good sites where you can read about, and see, children and families living with these conditions. So if you are asked as a neonatal professional to counsel a family, and haven’t read about the outcomes of such children recently, here are some resources:

A good place to start is a parent support group, SOFT, which has a website with a lot of information for professionals :

There is a link on their home page to information for professionals, which includes a journal club by Dr John Carey, and links to many published articles.

Or you could visit the many other websites set up by groups that help support families (or just search on youtube for some very revealing video records of family experiences):

About keithbarrington

I am a neonatologist and clinical researcher at Sainte Justine University Health Center in Montréal
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22 Responses to Communication ability in persons with trisomy 18 and trisomy 13

  1. Darcy Stice says:

    Thank you so much for trying to get the word out that Trisomies are no longer the death sentence nor “incompatible with life” that it once was. The fact is, these children do live, and they do communicate. Many of them would live longer if they had the proper medical interventions instead of “pre-conceived” ideas that they will be nothing. These are our children, our living, breathing children, whom we as mother’s carried with-in our wombs for 9 months only to be told to “let them die” because they arent going to live any kind of life.

    Signed,
    a mommy of a beautiful 6-month old trisomy 18 girl
    (she passed away at 6 months old, but I was told there is a chance!)

  2. Betty Rae says:

    Definitely the internet and our support groups have given many parents much more hope and information then what the medical community has been. An excellent idea this article is suggesting. Our daughter Trisomy 18 is turning 19 and yes she is very vocal and can clearly express her needs and wants, has a sense of humor as well, uses augmentative communication devices to interact with others.

    • Andrew Siebert says:

      Hi Betty Rae, my daughter is 5.5 months old with full Trisomy 18. Does your daughter have full T18, or mosaic? We are wondering what to expect down the road for communication, etc. Thanks!

  3. Kristi Poulin says:

    Thank you for your response. My daughter with full trisomy 13 will be 10 in Jan. She is currently enrolled in our neighborhood elementary school. She sits up, crawls, stands and we are working on teaching her to walk. Although with her severe osteoporosis it is difficult to strengthen her torso. She is currently going through bisohosponate therapy 4x a year. I’d say she’s cognitively comparable to an 18 month old. We know her lilies and dislikes. If we change the video from one on her favorite children’s shows, she goes to great lengths to find the correct remote (since we have 4) to have her channel changed back. My husband is a Pediatrician at a teaching hospital down here in San Antonio, Tx and when I bring her in for a doctor’s appointment, he never hesitates to show her off. A geneticist at SAMMC fresh out of his fellowship at Columbia Univ was expecting the worst when he met her for the first time, but was pleasantly in awe at her abilities. We are currently working a paper and will try to get it out as soon as possible.

  4. John Yount,MD says:

    Before everyone continues to characterize the POLST choices and counseling options offered to the young couple as “incompletely” informed or inadequately complete a moment’s reflection on the chronological reality of helping a young couple at either the prenatal diagnosis or birth of an infant with confirmed Trisomy 18.

    1. First there is often confusion and an emotional reaction that assumes that the decision not to artificially support and revive a dying patient while offering every comfort, full sustenance, swaddling and love is “denying optimal care.”

    2. The prenatal POLST options presented and decided in my example were made in 1993 and appear to have been one of the earliest prenatal decisions for hospice ever made.

    3. I have provided prenatal and post natal counseling to families with infants meeting the criteria for considering palliative or hospice care. This consideration is to be responsibly offered if there is incontrivertible evidence of a disease or condition with greater than a 50% likelihood of death within six months.

    3. None of the 12 decisions caused death or restricted the chance of life.

    4. It has always been true that a small, but significant percentage of the whole group of infants with the phenotypic features of Trisomy 18 or 13 survive the first week of life.

    5. The current understanding of Trisomy 18 and 13 too frequently focuses on the high early mortality risk. General OB , Family Practice and Pediatric physicians are too often perceived as saying “your child will die at birth,” instead of “your child may die in the first few days of life.” Last year I had to make a special effort to be sure the real survival chances for infants with Trisomy 18 were provided to a young couple who had been told “it is very sad, but your baby will die at once.”

    6. The decision to provide full normally delivered nutrition, full emotional and comfort support; but not to give any artificial death delaying support is loving, responsible and fully within the rights and responsibility of the parents with the support of their religious counsel and family.

    7. When a term infant has less than a fifty percent chance of survival for a week with a condition that is due to known absence of normal vital functions it requires careful and honest family counseling. It is appropriate and rationale to restrict artificial support and decide not to spend $10,000/day on NICU care and to offer only all support for expressed needs as determined by a loving caregiver. It is reasonable not to use extra oxygen, injected medication, tube feeding, antibiotics if the best hope possible is a less than a 5% chance of life at one year; and at best among those surviving only some degree of personality development and self recognition with no documented capacity to achieve the status of 90% the individuals limited by Down’s Syndrome.

    8. The POLST described from 1993 guaranteed support for the family in their choice to provide loving care at home for all the expressed needs of their child. It freed them from any guilt for “not treating” with futile, useless interferences slightly delaying death.
    It is still an appropriate intervention
    and in no instance prevents or limits hope in appropriately.

    9. They were free not to call an EMT TEAM to have CPR, intubation, artificial ventilation, intra-cardiac epinephrine, cardio version, emergency room care, hospitalization, artificial nutritional support when the expected sequence of a quiet death starts.

    10. It is fair and responsible to say that almost 5% of individuals with Trisomy 18 phenotype have had varying lengths of survival up to the start of the third decade. The oldest fraction of these individuals have shown elements of personality and interaction with caregivers. No individual has as yet reached a capacity to function in a sheltered home, or achieve personal independence with respect to self support within a loving family.

    11. Would any of the families having devotedly cared for the few remarkable persons that have survived with Trisomy 18 phenotype to the second or third decade want any aspect of the POLST changed for their child? What decisions did they and their medical support team have to make when their child died?

    • Kara McGhee says:

      With much respect to the hard work done 30 years ago, perhaps the data can sway to the positive for these kids? Currently, social media allows for tremendous support and communication. It’s a whole knew world of knowledge and expertise. Even with the very use of this blog. Within moments a parent can post on social media a concern and get first hand experiences from other parents. Parents can go into doctors with more knowledge now…at their finger tips. Early intervention with doctor care, therapies and school programs cannot compare then to what is so readily available now. Yes, some of these sweet babies do die. However, parents are more equipped now to handle life with a trisomy child. Maybe you need to see it first hand? Start by looking at the online photo album on Instagram, search trisomy13_trisomy18. Look at these children in life. If you don’t have a smart phone or iPad the web version can be found using Webstagram. Thank you.

    • Terra says:

      We have a 28 month old son with trisomy 18. Dr. Young, I do have an issue with some of the statistics you are citing. Current research indicates that in the US, children with T18 have a 10% survival rate at one year of age (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520824/). In addition,Tsukada K et al, 2012 report higher survival rates at a year if treatments are provided. It does pose the question of whether “useless interferences” as you stated do in fact show a benefit. Children born with hypoplastic left heart are also give the prognosis of 10% survival rate at a year, yet open heart surgery immediately following delivery is still the #1 recommended treatment plan. You also state that older children have some “elements of personality and interaction with caregivers”. I would like to report that my 2 year old giggles with jokes, smiles, cries appropriately, gives hugs, signs more and no, uses eye gaze to show what he wants, plays finger games; all in only 2 months of speech therapy and despite spending his first 14 months on hospice. What could he be doing if more was provided sooner? I encourage you to meet more living children with this condition before blanket recommendations are made.

      • John Yount says:

        You have obviously given your child close attention, good nutrition and unrestricted loving support. In those 28 months most of the families giving similar care to their infants born the same month with triple copies of the 18 chromosome have experienced the spontaneous death of their infant. This did not occur because of anything they did or did not do. A Hospice or Palliative Care plan does not prevent any of the good work you or the other families performed. The plan simply helped them to be as prepared as possible for the expected deaths. The only issue for you to deal with in “stopping being in contact with a Hospice program” is what you would do if your child experienced a sudden decline in capacity. Each day that goes well decreases that possibility as a short term risk; but as for all of us is at the same time a small nudge toward a long term risk that awaits us all. No one has a means of predicting either your child’s future or your own. You may simply take great personal satisfaction in what you have accomplished– with reasonable efforts at stimulating and novel experiences you will help your child gain as much capacity as is his or her destiny. You have nothing to regret for past choices, and simply the chance to celebrate progress which has not graced the lives of most similar families. We have no current indicator of why your family was blessed while so many others were not. God Bless.

      • Terra says:

        Dr Yount-
        You are completely correct that there are no indicators of why our child has done well and why others have not. This is the exact reason that trisomy parents want the medical community to see our children as human beings and not as a diagnosis. The ability to only look within the box of a diagnosis only prevents our children from not only receiving life-saving/quality of life improving treatments, but also from being able to have adequate testing completed. My regrets don’t come from our choices as parents, but from the inability to teach physicians that my son isn’t just a fluke, and that he and his trisomy friends should be given a chance to demonstrate their God-given right at life.

  5. Re the reply of Dr Yount who thinks children with trisomy 18 should be given hospice care only after The Canadian Pediatric Society Committee created guidelines that will lead to withholding of care and death to some children because THEY think the cost and risk of disability is too high.
    I continue to be upset and very concerned by the comments made by some professionals regarding the possibilities for survival/ quality of life for babies born with Trisomy 18.
    I received no pre-natal diagnosis for my full T18 daughter back in 1992 and was therefore not given any warning. I will be eternally grateful for that fact as I would most likely have bowed to medical opinion and terminated. Almost 22 years later my beautiful, vibrant daughter is still alive. Yes she has full Trisomy 18 but she does not fit the description posted by Dr Yount.
    There is no question that her development over the years has been delayed but Dr Yount’s comment that there is no ‘documented fully manifest trisomy 18 infant developing recognition of self or care givers’, is completely incorrect. My daughter along with other children with full trisomy 18s we have the privilege to know, in their teens, 20s and even their 30s are very self aware, and whilst non verbal, they have as a result of speech and language therapy developed their own communication skills to interact with care givers, family members, peers etc. My daughter has the most expressive eyes and eyebrows! Her contempt for me when I am treating her as less than a young woman is obvious. Her determination to obtain what she wants is a very developed skill. She loves nothing more than to be surrounded by people, particularly men, holding court and communicating with the one who is her favourite today. If she has spent time away from me she clearly attempts to guilt trip me for that break by ignoring me for the first hour she is returned to me, and then when I have gone well beyond the call of duty to praise her and make a huge fuss of her, she turns to me, pinches me and smirks as if to say, “Only joking mum but I like to give you a hard time!”
    Dr Yount, you also state, ‘The oldest surviving persons with the condition have reached the second decade of life while tube fed, unresponsively bedridden and recurrently treated for infections’. Again, this is simply untrue. I do not know a child or young person with full trisomy 18 who is bedridden. In fact I know of some children who are almost walking unaided. They go out to school, college, swimming, rock concerts, and they travel around the world. My daughter has been to the top of one of the UK’s highest mountains assisted by the British Army. Yes, a high proportion are tube fed but is that such a big deal? Initially I was horrified that my daughter may not be able to eat but almost 22 years later her gastrostomy has allowed us to build her up, keep her healthy, and lead a full and active family life. Children with trisomy 18 can be susceptible to infection but if they are treated as individuals rather than as a diagnosis they have every chance of surviving those infections and returning to full health. Until my daughter developed swine flu in Jan 2011 she had not had a hospitalisation for 13 years, only suffering from the normal winter bugs that the rest of the family also suffered.
    The key word in all of this is ‘documented’ – that is the problem. The Teaching Hospitals need, desperately, to start using the literature that is available on trisomy 18 so that medical students can learn about the condition, rather than be told, ‘Trisomy 18 is incompatible with life’. The information that is shared via social media between families with surviving children with trisomy 18 should be accumulated, edited and distributed amongst the medical professionals responsible for teaching, and among the ethics committees in our hospitals –
    No medical professional should have the right to advise parents using out of date information neither should they play God by insinuation. Blog by Heidi mother of Saskia and Co founder http://www.trisomy18-13supportuk.com

  6. Brandon Bos says:

    Hi Doctor Yount! I would like to speak up for the kids with Trisomy 18. I am 16 years old and have Mosaic Trisomy 18 and I do have a voice. By the way I have a personality too and right now I don’t want to tell you how I am feeling! You say that Trisomy kids aren’t like 90 % of the Downs Syndrome kids. I am not a doctor but just like there are lots of Down Syndrome kids with different strengths and weaknesses there are lots of Trisomy18 kids with lots of different strengths and weaknesses too. Our geneticist adviced my mom to have an abortion because of statistics. There is a little girl from where I am from who also has Trisomy 18. The only thing wrong with her is her heart and she can’t get an operation for it because she has Trisomy18 and doctors are saying she won’t survive it. That’s kind of like lying to the parents because lots of kids do survive the heart operation. I think that if parents come to you for advice you should show them both sides of the story and treat each kid individually http://www.brandonsmt18journey.com

  7. Annette says:

    Dear Dr. Yount,
    Reading your prognosis for babies born with trisomy 18 takes me back to 2001, when my daughter was born. I was given literature from a geneticist that stated the exact same thing you did. Her literature was dated 1953. Much to the dismay of a hospital full of doctors and specialist, I chose life for my daughter. She was full code. I was only able to have this option because I had private insurance and I was determined to find information I needed to keep my baby alive. The first year of my girl’s life was heartbreaking. There were many, many hospitalizations due to pneumonia. My daughter had an enlarged heart which resulted in her lungs not being fully developed. She did have heart surgery at the age of 3 months to repair a VSD, ASD, and PDA. (God bless heart surgeon Dr. Fraser at Texas Children’s Hospital for agreeing to do the operation when no one else would.) At a year old, my daughter was trached and started doing better. In 2007, she was hospitalized 5 times for pneumonia. That’s the most she had ever been in the hospital in one year. At this time, I thought that the game plan was not working and had to be changed. I started giving her glyconutrients by Mannatech. In 2008, she was hospitalized one time in October and in 2009, she was not hospitalized at all. I guess some children cannot live by baby formula, Pediasure, or Ensure alone.
    In regards to my daughter’s personality and learning, I have to say, she took after her mother. She loved going places, she was sarcastic and she was smart. Although my daughter could not talk, she could communicate. Little Annette would use her eyes to communicate. If you asked her a question, she would reply by looking up. Her answers were tested and always correct. She knew basic prekindergarten curriculum. She knew her colors, numbers, shapes, animals. She could identify her name when written and shown to her with two choices. She could reach for blocks to spell her name. She decided on how she wanted to wear her hair and what clothes she wanted to wear. She could use an augmentative device to communicate but she preferred her eyes. To get my attention when I was in another room, she would hold her breath and make her pulseox alarm go off. She would also do this when we were in the car and she wanted me to change the radio. Everything that I claim she can do has been documented by the public school personnel, whom insisted that she had the same mentality as a 0 – 3 month old baby. After two years of public school, I decided to keep her home. I could teach her more than they could. I taught her to count and to add.
    I read some of what you wrote about your other patients. One thing I remember was that one family invited you to their child’s funeral. I infer from that that you are a caring doctor who does what you feel is in the best interest of the child based on your own information. I was not so lucky to meet doctors as such. Dr. Yount, I implore you to do research on children with trisomy 18. Many things have changed in the medical field since 1953. Our children love life and we love our children. Little Annette lived for nine years. In those nine years, she touched and inspired so many people. She loved traveling and going to parties. She lived her life as if each day could have been her last.
    Sincerely,
    Annette and Annette

  8. Raluca says:

    I am Raluca from Romania and my daughter Cati is two and a half, with full T13. She has recenly spent her first week in the hospital, for cleft palate and extra digits removal. That was her first overnight stay in the hospital since we brought her home. She is enrolled in a neurodevelopmental program and is making progress beyound everybody’s expectations: she cam army crawl in cross pattern, she can stand up by herself, almost sit up by herself, she can turn the pages in a book, take out the pieces from a wooden puzzle, use her pincer grasp. She can respund to commands (like clap your hands, wave bye, put your hands on your head, throw the ball), she can identify pictures and colors. She says “mama”, gives us kisses and is pretty much aware of her surroundings. She has strong likes and dislikes, she is sweet and ambitious and strong. I would have never aborted her. But had she never existed, the world would have lost a wonderful person. I am really proud to be her mom. It is C. S. Lewis that said: You don’t have a soul. You are a soul. You have a body. Our children may have broken bodies, but they are worthy of love, respect, proper care and everything a typical child deserves in life.

  9. Dr Yount, with all due respect, I am actually quite horrified by your suggestion that since children with trisomy 18 or 13 “only have some degree of personality development and self recognition”, it is “reasonable” not give medical oxygen, tube feeding or antibiotics. With medical interventions, Japanese children with trisomies are reaching a one-year survival rate of 50%. The low survival rates seen in some studies merely reflect the society and the medical practices or lack thereof, where the studies are performed.
    Using level of mental disability to deny medical care is abhorrent, plain discriminatory.
    I personally know a Norwegian lady with trisomy 18 in her late thirties, she even survived an attack of the swine flu. And she communicated well with her family members, and knew what she wanted from life. She was definitely capable of self-recognition. Her biggest problem were her club feet – never treated because her physicians always expected her to die in early childhood. I know another Norwegian lady, 14 years old with trisomy 18. She can say “mama” and “ja” (Norwegian for yes – and she says those words with the accent so typical for her part of the country), she communicates quite clearly with gestures, sounds and facial expressions, and she is also very well aware of “self”.
    I know several more children with trisomy 13 or 18, of younger age – all of them able to recognise family members and others, and of communication.
    Please, Dr Yount – take a look at the following narrative and commentary:
    http://www.ncbi.nlm.nih.gov/pubmed/24102789
    http://www.ncbi.nlm.nih.gov/pubmed/24112219

  10. Darcy Stice says:

    Dr. Yount –

    With all due respect, you have been bombarded by several of us parents screaming for the recognition our children deserve. Unfortunately, it is in “your” medical opinion that saying “your child ~may~ die” vs. “your child ~will~ die” will make some kind of difference. We mothers and fathers usually want nothing more than to be parents and those things don’t happen to us, they happen to other people. With the amount of negative information we parents are inundated with when our child is diagnosed wether before or after birth, do you really think that we hear the word “may” vs. “will”?

    We only hear “DIE”!

    So this is why many of us ask that we ask to please refer those with new diagnosis to look around on the web, guide them to these awesome websites that parents of our special children have poured their heart and souls into creating.

    More than 50 years ago, these same horrible things were said to parents of children born with down syndrome. Now, those same children who have Downs, they are given a chance, they do have early medical interventions and they arent given a death sentence before they are ever allowed to live.

    So please Dr. Yount, please explore these websites, please reach out to a family close by you, I promise you that you will be a changed man because you will see. We families don’t have false hopes, we mearly are giving our children the chance that many doctors today wont give them.

    We understand our children are a gift and we know we have them for the present day, that is what we celebrate. So please reach out and see what we celebrate. We celebrate our gifts!

    And although we won’t change the entire medical community today, perhaps today will be our chance to show you why you want to change your perception of a T-18 or T-13 child, and perhaps you will help us to change the world?

    Kindest regards,
    Darcy

    • John Yount says:

      Darcy–

      As a medical student I was trained at a medical institution and in a State that were in the forefront of those changing the recommendations for care of infants with Trisomy 21. The plans of families caring My best friend from graduate school and his wife had their first child just as I was entering Pediatric Residency. David was one of the 1/600 infants born with Trisomy 21. I wrote them a long letter recommending home care as compared to the institutional care most often advised by the previous generations of doctors. The shift from institutional to home care raised the energy of concern by parents. Those pioneering families made possible the prospect of public school educational programs for all developmentally challenged kids.

      Trisomy 21 never was associated with the extraordinary mortality risk of both prenatal and post natal death observed with the vast majority of Trisomy 18 and 13. That extremely high risk is related to the much larger size of the extra chromosome material with 13 and 18. For Trisomy 18 it means 2/3 of the fetuses with that developmental pattern have died spontaneously before birth. The 1/6,000 occurence at birth would otherwiseThe occurence of This has been true both before prenatal diagnosis was widely possible. After the remaining 1/3 are born those who have been less independent requiring tube feeding instead of showing nippling reflexes have the same high mortality post birth; the risk of death within weeks has been unaffected by offering multiple supportive treatments beyond tube feeding such as oxygen, infant monitor use, antibiotics, etc.

      The very few survivors alive at one year do not seem to have received any treatment or attention then those dying very early.

      It can argued that the use of multiple. artificial supports gets in the way of close personal contact which guarantees the greatest possible quality of life.

      It does not seem likely that there will be any intervention or communication that greatly reduces the 90% mortality risk continually observed in the first year for infants who have a Trisomy other than Trisomy 21. Infants with Trisomy 21 have always generally survived to the third decade and beyond. Increasing early attention and stimulation has been very successful in benefiting those children because they inherently are more independent and capable of responding.

      There were 90 or more infants that spontaneously died despite careful and loving care for each of the multiple reports of Trisomy 18 and 13 alive at more than five to ten years. For the very few children with Trisomy 18 and 13 phenotype who are still alive at 15-20 years there has not been something they were provided that was denied the several hundred who have died. Hospice does not deny care that causes death; it is an agreement not to attempt artificial supports that fruitlessly delay death. The emotional pleas from all the bloggers asking doctors such as myself to stress and “acknowledge” the existence of this tiny percentage of all the infants born with non-21 Trisomy is based on the assumption that medical professionals have some how been responsible for the high mortality inherent in that large amount of added chromosome material disrupting the metabolic activity in every cell. The survivors simply have been blessed with an amount of chromosome that was inherently lower in damage and metabolic interference. The message to families has been and should properly remain ” We have no means of predicting the individual future for any of us. We know that some people are at great risk, and should receive an abundance of love, attention and concern. If there is no treatment capable of healing or preventing an early death, then it is destructive of the people giving care and unrespectful to the person near death to transiently suspend the inevitable. Their capacity to be independent and their response to time and a chance to grow and heal will be the only source limiting their future.”

      • Terra MSN, RN says:

        Dr Yount – I do agree with most of what you said, but there is still a vast difference in your understanding as to why so many parents are speaking out. I am not just asking for acknowledgement as you stated, but for doctors to not refuse treatments for my son because “he has Trisomy 18 and is going to die anyways.” We have faced ethics committees and multiple debates with doctors because our thriving 2 year old needs a procedure done that would help improve his quality of life. We have been told point blank that due to his Trisomy 18 diagnosis, it isn’t worth the medical costs to provide him with treatments that can improve not only his outcomes but also his quality of life. Our issue isn’t just to have our children “acknowledged”, but for our children’s needs to be treated just as another child’s would be. Do we take into account that their medical issues are compounding? Yes we do! Are we in denial about statistics? No. But we are tired of the same arguments over and over. Our children are living. Our children are thriving, so why are they being refused care? I do encourage you to read some of the recent studies coming out of Japan showing that when cardiac surgery (since 90% of our children are born with a cardiac defect) is provided, the rate of survival at a year drastically increases. Do I recognize that not all children that have defects are ones that can be repaired? Absolutely! But for the ones that can be, why are they being refused? Because they have Trisomy 18/13? We argue that if the ability is there to fix something or even provide treatment for our child, that using their Trisomy diagnosis as an excuse not to treat them is not ethical. I mentioned before that we have a 28 month old with T18, but I did not mention that he is not our first child with T18…he is our second. Our first son was born with a severe right-sided diaphragmatic hernia, and we knew that a surgery would not improve his outcomes or quality of life – he would’ve died on the table. We as trisomy parents are not niave that not all of our children will be born with repairable cardiac defects or intact organs, but we do believe that the children that are born with repairable issues should be given a chance.

      • John Yount says:

        The children with Trisomy 21 are likely to have a congenital heart condition called AV canal — they were not operated on for decades even as congenital heart disease surgery significantly improved the survival with that condition. After twenty years of debate the expanding number of surgical support teams began
        to have an effect–with more open surgical times the Trisomy 21 kids began to receive surgeries.

        The unfortunate thing is that with major chromosome derangements the degree of heart malformation increases while resilience and healing decreases. The extra chromosome means extra materials made from 18 or 13 flood each cell’s metabolic activity. So even for a “standard” pattern of disease the body is receiving an overburden of false reactions and responses from each cell in addition to the effect of the heart disease. Often the valves and chambers that are too small are very small, the holes between chambers are large and the strength of the heart muscle’s response to stress is reduced.

        The surgeon’s may feel that attempting what may be a well tolerated correction for another child is too risky for your son; and they fear he stands as great a chance of ending his life as being benefited by enduring surgery.

      • Terra MSN, RN says:

        My son actually had no need for a surgical repair for a cardiac defect (he was born with a very mild coarctation and has since grown out of it)…I was using that as an example. Our issues have been treating his kidney tumors, assisting with his obstructive apnea caused solely by his micrognathia, and even gaining access to therapies to encourage his development. We have fought hard for our son, and fortunately, we have been lucky with ethics committees. My point is still being missed. The physician’s responses for denial of care have not been made based on looking at my son’s issues at a whole (in fact 2 of the physicians never even looked at his chart…only that his main diagnosis was T18). This is what our debate is for! Why can our children not be looked at as a whole? Why does the diagnosis for T18 or T13 immediately equal hospice care without looking at what all the issues are! Even at 2 years old (my son was kicked out of hospice at a year), when his kidney tumors were found (he was thriving by the way otherwise), he was denied treatment by 2 physicians because “he should already be dead due to his T18, so we will not treat him.” If I chose to treat one of my adult patients in that fashion (not even assessing or looking at an H&P), I would face legal action and potentially loose my license. We did find a physician who agreed to treat him and is actually working on publishing our son’s experience. My son tolerated 19 weeks of 2 chemotherapy drugs better than most nontrisomy patients. He was never even hospitalized, and all his procedures were done outpatient. Again, we are not niave that our children have multiple complex issues! We are not asking doctors to perform miracles! We are asking for our children to be treated medically if possible. You have no idea how many parents I deal with every day that receive comments such as “if your child had a diagnosis of T21 instead of T18, we would do the heart surgery.” Or whatever procedure it might be. In our case, it was “well, since your child has a trisomy 18 diagnosis, we won’t treat…if he just had a mosiac diagnosis.” Their trisomy diagnosis should not be the deciding factor! The defect should be the deciding factor! The multiple other issues that the child has should be the deciding factor, not their trisomy diagnosis! We want our children to be treated or not treated based on their issues, not solely on their trisomy.

      • John Yount says:

        When the original chromosome analysis
        was performed did they quantify how much of 18 was tripled? You did not confirm my supposition your kindred carries a balanced translocation or duplication. This may provide quantified evidence for the genetic equivalence of a “near mosaicism.”

        The random chance of two siblings having “regular” Trisomy 18 is 1 in 36,000,000. That means once in each decade in the US — among the ~40,000,000 children born in a ten year span. Not likely you will fit into the preconceived management plan of even the most sophisticated center. Their ethics group would confront the problem once a century.

      • John Yount says:

        If your first son also had Trisomy 18 there must likely be a balanced duplication or translocation inheritance pattern. You have my sympathetic attention. What “repairable” cardiac defect is present? How many surgeries required for his form of defect? What are risks of demise on surgical table with cardiac defect alone at your center?

  11. Guy says:

    Dr. Yount;
    Luke was born in 1994. He was tiny. 2 lbs 12 oz. He was oddly shaped had rocker bottom slightly deformed feet, a sixth digit. He was born early..wife with pre-eclampsia.. she was in one room with a liver shutting down, he was in the other..tiny, on a simple oxygen feed. The neonatologist worked on him for hours, she was a natureopath. She never gave up. My wife,39 at the time was offered an amnio… but we refused at the time for fear that the fetus would be harmed. Luke fought.. we brought him home 44 days later. mainstreamed in school, definite issues but learned to read/write ect.. 17 years later because he began to have problems with severe mood swings..etc.. we tested him for genetic causes per the Psychiatrist.. none of the reasonable psychotropic drugs were working.. after 2 series of tests, the second one included a basic karyotype. Bingo… Luke had Mosaic Trisomy 13. We were devastated.. and told at the time at the University of Virginia Genetics Lab, that they had never seen a living Mosaic Trisomy 13 adolescent (Luke was 17) he is 19 now.. a solid 5 ft tall, 135 lbs and lives in a group home and has many prospects to thrive. see: http://trisomyblog.blogspot.com/2013/05/luke-mengel.html
    As far as we can tell, Luke is the 2nd oldest living person with Mosaic Trisomy 13..
    There is HOPE always HOPE. It saddens me each time we tell Dr’s of Luke’s disorder to see their faces… they do not know what to do with such a patient… HA..

    Guy M. Mengel Father of Luke who lives!

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