We have joined with SOFT UK for their Family Weekend, and Dr John Carey, the Chief Medical Adviser to SOFT USA and International Trisomy Alliance has been invited to speak.
Trisomy 18-13 Support UK now has a News page with the latest news for families affected by trisomy 18 and trisomy 13. Let us have your news and we can post it here. Read about the Ethics submission, a new creche at Tristan's Light House, and free e books that are available for families and professionals.
11th January 2014
For those following baby Christopher's surgery progress - the little man has just gone home! It took him no longer than a baby without a genetic condition to recover from surgery - So UK doctors - operating on babies with trisomy 18 is NOT futile
January 8th 2014
Christopher is now out of intensive care.
December 24th 2013
Christopher came through the surgery bless him, and he is doing well. He has a slight problem with his temperature and high respiratory rhythm due to a problem with his left lung, but his mum says he is doing really well. Please continue to keep Christopher and his family in your thoughts and prayers.
December 23th 2013
Christopher coped well with the operation and is now continuing to grow and recover but is still in intensive care. Christopher's mum Susan would like to thank everyone for their prayers and kind thoughts and to thank Mr Maclean, the surgeon at Royal Hospital for sick children and all the medical team.
December 22nd 2013
Christopher is going to have an operation to relieve the strain on his heart via pulmonary banding and closure of the PDA at the Royal Hospital Glasgow performed by Mr Maclean. The picture above was taken on Saturday 22nd of December when his family celebrated Christmas as a family before the operation.
Forwarded by Heidi, continuing the conversation of the 13th November:Marty commented on Preterm Babies are Human Beings Too.
in response to keithbarrington:
The Canadian Medical Association Journal has just published a Commentary by 2 neonatologists from the USA. Batton D, Batton B: Advocating for equality for preterm infants. Canadian Medical Association Journal 2013. The commentary is in response to the CPS recent statement, produced by the fetus and newborn committee ‘Counselling and management for anticipated extremely preterm […]
To Dr. Yount,
Let me restate my concern over the current state of neonatology as regards EPB and infants with challenging genetic conditions. My “vehement passion” is not for attempting to prolong life at all costs, it is for honest discussion and true informed consent for families. The thought that neonatologists would determine that we will not even discuss the possibility of resuscitation with a family whose infant is 22-24 weeks gestation, in the face of current literature, should provoke significant distress. To answer your question John, if a parent does not want their 23 week infant resuscitated, I support that decision. The point is we as a specialty have increasingly jumped on the utilitarian, paternalistic bandwagon. We have created “estimators”, which have become calculators (no doubt being well studied by healthcare finance officers), and have demonstrated a willingness to impose our own personal biases, or the biases of society, on families facing the most challenging perinatal circumstances.
You state Dr. Yount, “It is my strong feeling that the best bulwark against harm to both individuals and the budget of the Canadian Health Service is committed, compassionate, informed Neonatal Attendings; who assess each instance with family interviews prenatally and personal immediate examination of newborns. My personal choice for assessment of an organ determining viable versus pre viable state is the skin for 23-24 week infants; coupled in a few instances with the response to exogenous surfactant.”
It appears that you see a dual challenge for neonatologists: limiting harm to the individual while being a steward of healthcare dollars. I believe we partly agree. I hope. I will presume the “individuals” mentioned in your statement are “our patients.” My oath as a physician was not only to limit harm but to prescribe treatment for the good of my patients, which in all but the most unusual cases includes their parents. I will also presume that the harm you refer to includes all the harm “our patients” may suffer, whether from overtreatment (which you seem particularly concerned with), but the undertreatment of therapeutic nihilism, whatever its roots, that leads to death. As far as the welfare of government budgets, it has nothing to do with my mission or any oath I have ever or will take Dr. Yount. This thought never enters into my consciousness in performing the sacred duty I have to “our patients” and families.
Critical in the delivery of the care we do or do not provide to tenuous infants is a committed, informed and compassionate neonatologist. Agreed. This neonatologist should be “vehement” in his determination to support the best interest of his patient and the patient’s family. That’s the kind of neonatologist I want caring for my child. Critical to assuming this role in the care of EPB is discussion, when possible, before delivery with families. This is my point Dr. Yount. Based on the best data, physicians need to put aside their personal views and concerns about government finances, and honestly discuss options for their child who is at the border of viability. The literature is clear that we are not unified in this approach. When evidence shows us that based on resuscitation policies EPB survive at rates from 28-90%, we have a significant problem. We simply are not being honest with families. We have determined in some of these units that we believe some babies should just die.
“I trust there is the continual allowance for the family to be the final arbiters of what is done for their child.” This is another straw man Dr. Yount. I am not advocating mandated resuscitation for all borderline viable infants. I am advocating and call for neonatologists to commit to open and honest informed discussion with families based on best available evidence. This is not a directive exercise. “Our patient” is the infant, and their family, and we should be willing to discuss and offer available treatment options. These options should be discussed no matter what the attending neonatologist might choose personally, or what the state might actively discourage.
As for determining viability sir, I appreciate that in my mid 50s I do not have the experience you have had, but your personal preference for determining viability by the skin appearance of 23-24 week infants has no basis I am aware of in the literature. If anecdote is the basis of decisions, and it shouldn’t be, I can report having resuscitated a handful of true 22 week infants, generally in cases where dates were uncertain (and they generally are, no matter what we think) and parents wanted resuscitation. Two of these 5 or so infants stand out. Both of these infants had extremely immature skin, massive fluid requirements and survived. Both had normal developmental outcomes when I last saw them at 5 and 6 years of age. These are perhaps not typical cases, not cases I would use to drive my practice, but both cases that support the findings of reports that it is certainly possible for 22 week infants, given the opportunity, to survive.
The literature supports that if EPB are to survive, there needs be early early initiation of appropriate resuscitation. Certainly surfactant administration is part of this effort. However, time dedicated to gestational age assessment in the DR before resuscitation is time lost for resuscitation. Repeatedly, and in this blog recently, gestational age assessment alone has been shown to be inadequate in predicting individual survival. The appearance of an EPB in the DR is not predictive of survival, the response to resuscitation and need for CPR is. Unfortunately you only have this information if you make the effort to resuscitate. My intolerance for the translation of the work of Tyson et al. into an “estimator” aside, this work gives us some insight into the variety of other factors we need to consider in predicting survival beyond gestational age.
In reply to requests, this is the link to the conversation that generated replies from Heidi. http://neonatalresearch.org/2013/11/05/preterm-babies-are-human-beings-too
Scroll down for the comments by John Yount. Heidi is a co founder of Trisomy 18-13 Support UK and the mother of Saskia who was given a diagnosis of full trisomy 18 and is now 21 years old. Saskia has her own page on this website.
Dear Dr Yount,
I do not know the exact details of the blood and skin cell analysis carried out in 1992 on my T18 daughter but there was agreement between medical professionals that she was FULL TRISOMY 18. Had I known then what I know now I would have asked more questions but at that early stage (the blood analysis was at birth. Skin cells at 5 months) I was overwhelmed by the new world I found myself in. That's why it is crucial parents are given as accurate information as possible at that stage.
In terms of your suggestion that my daughter may not be full, I would make this comment: If there is a belief amongst medical professionals that surviving trisomy 18 kids are all mosaic even though they have tested as full at birth, then it is even more essential that basic resuscitation and medical care be provided to ALL TRISOMY 18 babies at birth because of the medical profession's uncertainty as to how many of these babies are actually mosaic.
We simply cannot write these babies off if there is uncertainty. It would be interesting to re-run blood analysis now on all the long-term survivors over 20 and see if the results are the same .
Heidi, mother of Saskia aged 21 years FULL 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.
Members arrived after lunch on Saturday and we spent the afternoon chatting over tea and coffee and soft drinks in the comfortable meeting room provided, compliments of the Hilton in Leicester. The staff could not have been more kind or helpful.
We were twenty four including the children, Paula and Mia stayed for the Saturday only, and Sue's husband Richard and children Daniel, Becky and Ella were at Bella Pasta on Saturday evening. Peter whisked us off in the minibus, kindly lent by Haberdashers Monmouth School for Girls, to Bella Pasta where Sue had booked an enormous table. After a great meal and puddings to die for, we went back to the meeting room for more chat and and a night cap.
On Sunday we met for a five course breakfast, and afterwards parents and children spent the morning swimming and in the jacuzzi. Sadly Lily could not swim as she had ear problems, but she joined in the fun poolside. Grant and Claire were unable to join us, but promised to bring their new baby to the next meeting.
We are now discussing dates and the venue for a meeting in November, and will post details on the website and our Facebook page as soon as they are confirmed. Click here to view photographs of the weekend.
The arrangements for our informal weekend meeting have been finalised, and Heidi, Sue and I are looking forward to meeting friends old and new.
The Hilton have very kindly given us a meeting room for the Saturday and the Sunday, and there is the swimming pool and jacuzzi so bring your costumes!
In the evening we have booked two large tables at a reasonably priced Italian restaurant, and thank you to the Haberdashers Monmouth School for Girls, we will be able to take everyone in a minibus they have loaned us together with a fully qualified driver.
When we return to the Hilton, if the children want to watch television in one of the bedrooms while parents have a drink in the bar, we are sure we can arrange a rota of babysitters.
Our weekend is one of many events being arranged during Carers Week, and we are carers, were carers, or are supporting carers.
It's Childrens Hospice week this week and Saskia has used Helen & Douglas House since 2004 when she was aged 12 years old.
Initially I couldn't face having a child that needed a hospice for respite and didn't want to go and stay as a family and expose my other children to what I thought would be a sombre environment.
When I became a single parent in 2004 I was persuaded to give it a try - Best thing we ever did. Childrens hospices are full of life. They celebrate the kids they care for and look after them as if they were their own. There is always fun and laughter but when times get tough they are there for the families to help them make the necessary decisions and to help them face what is probably going to be the most difficult time of their lives.
Fortunately for us Saskia has great health but when she had swine flu 2 winters ago, we were able to do a step discharge to the hospice whilst she was still requiring oxygen. That gave us the opportunity to get her out of the hospital where she had unfortunately picked up a secondary infection to avoid any further infection and allowed her to be weaned off the oxygen before coming home.
Her sister was doing revision for her A levels at the time and it meant that the 3 of us could stay at the Hospice instead of having to send Ellie to stay with friends. It meant that in between revision Ellie could pop downstairs and see her sister and know that she was ok rather than being miles away and worrying about her. It also meant that I could be a mom to both my girls when they both needed me. Saskia made a full recovery and Ellie got good grades! I read a lot of magazines and ate a lot of cake!!!