Never say never about our child
BMJ 2015; 350 doi: https://doi.org/10.1136/bmj.h1246 (Published 06 May 2015) Cite this as: BMJ 2015;350:h1246
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This story is virtualy identicle to ours. We have a son of 9+ yrs who has mosaic t18. He is a happy, healthy cheeky little boy. The wreckage in our lives and the lives of our other children (labelled siblings in the lingo) is indirectly a result of the professionals' attitude that there seems no apparent moral duty beyond preparing the parents (not the other children) for the inevitable early death of their child at regular intervals and sometimes in inappropriate settings.
We have fought for every shred of support from vital equipment and nutrition to regular breaks and education. We have guarded our child through every hospital admission 24/7.
I wholeheartedly agree with the author, our children have as much right to live as any child. No matter what their condition, it is the child's and our choice to fight for life. Is it the consultants' right to refuse assistance? Is it the consultants' duty to extinguish all hope? First do no harm. The infant/child is not the only factor.
Our t18 children are not so very different from those with other life limited or life threatening conditions, and we need to 100% offer life opportunity, not death inevitability.
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Thank you for sharing your family's story. As parents of a daughter who also had trisomy 18, your words perfectly described our experience with her. Our daughter, too, was diagnosed after birth and additionally had a severe heart defect. Plans for heart surgery were cancelled upon her diagnosis of trisomy 18. We were encouraged to take her home on hospice as we were advised that she likely had days to live. As medical professionals ourselves, we trusted Julia's medical team and their certainty in their predicted course of her diagnoses. Julia had other plans, and she showed strength and determination as she learned to eat and began to grow. She required a great deal of care, but we were able to provide care at home with minimal medical intervention (she remained ineligible for heart surgery). With her smiles and her engaging eyes, she gave us so much joy and hope that we never expected when given her diagnosis. She lived just over one year, and we are thankful for every moment we had with her. She was and is a very beloved member of our family and our community. She was so much more than a statistic or a diagnosis; she was a daughter, a sister, a neighbor, a person.
Jennychildress.blogspot.com
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It seems as if many clinicians interpret articles such as Ms. Pearson's as requests to give families their choice of every conceivable avenue of treatment regardless of the clinical circumstances; I agree that removing the clinical expertise from the equation would be unlikely to benefit the patient and would create an even more stressful situation for the caregivers.
That being said, I do not believe that is the message these articles are intended to convey. They are not arguing that scientific evidence on outcomes given clinical circumstances should not be vital part of responsible treatment planning, they are pointing out that the problem arises when "clinical circumstances" becomes synonymous with "diagnosis", as often seems to be the case with full trisomy 18 (T18). Ask about the prognosis for an infant diagnosed with full T18, and the responsible clinician would inform you of the mortality rates at one day, one week, one month, six months, one year, and ten years. Ask about prognosis for an infant with mosaic T18, and the responsible clinician would tell you that the prognosis depends on the clinical presentation in that patient.
Where is the evidence that says clinical presentation is less relevant to prognosis than a statistical info sheet for children diagnosed with full T18?
My daughter's case illustrates why prognosis should be determined on a per case basis even when the diagnosis is complete trisomy:
Ellie (b. June 28, 2005) was diagnosed with full trisomy 18 when she was about one week old. We were given the routine horrible prognosis along with informative literature. Ellie had several of the physical characteristics common with T18 (heart defects (VSD and PDA, both resolved without surgery), pulmonary hypertension (resolved with heart defects), very low birth weight given gestational age, small ears that were slightly low set, prominent heels, and a slightly small jaw; however, the potentially life-threatening complications associated with full T18 were conspicuously absent. Since T18 was present in all 25 blood cells they tested, improvements in Ellie's health were tempered with reminders about the statistically probable outcome we faced.
Ellie was discharged at two weeks old with grim prognosis intact but without any specific medical considerations. I spent the next four months in that hypervigilant state that immediately precedes a panic attack. At our 4 month follow-up appointment, the geneticist told us that at that point, she did not see any reason Ellie should not make it to her first birthday (much better odds than 90%-95% mortality by age 1). On the car ride home, I actually got some rest.
By the time she was two and a half, she deviated so far from the full T18 phenotype that the geneticist ordered another blood test to double check her diagnosis; again, trisomy 18 was present in all cells tested. Ellie continued to thrive, and when she was four years old, her geneticist requested to biopsy and analyze skin cells. Of the 34 skin cells analyzed, only 4 had the extra chromosome--mosaic trisomy 18.
Ellie needed intervention to get started, but she turns ten next month and is a happy, healthy child with a bright future. Many infants with full T18 receive only minimum, if any, intervention because of their diagnoses and often do not survive; if even one of them could have flourished like Ellie, how can that possibly be the best practice?
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A moving account by a loving mother. The complaints against doctors' attitudes reflect how doctors, like any people, have different attitudes to those under their care.
Doctors and all those involved in the care of ill or disabled people have to deal not only with the patient, but also with family members. If relatives have clear views on best or appropriate care, the professional still has to struggle with learning the feelings of the patient him/herself. And when the patient is unable to indicate his views about his suffering and about the type of help he wishes... Yes, the views of family members prevail, but I am not sure that the patient experiences any gratitude for the prolongation of his living with irremediable constraints.
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Thank you for all the thoughtful responses that have been posted to date.
The question of evidence based medicine is rightly discussed. My question is what constitutes evidence when looking at a rare condition where symptoms may vary significantly in severity? Evidence and “the literature” were both referred to in Isabel’s early days, mainly to confirm the negative prognosis. We have since learned that there is a whole range of other evidence in existence which offers some positive stories as well as the more negative ones, but none of this was apparent in our early discussions with medical staff.
When I initially wrote my article we only knew of one other trisomy family. More recently I have connected with families across the world and there is much sharing of stories. It appears to me that the survival of trisomy children is dependent not just on their individual medical difficulties, but on the combination of the mindset of the medical staff (including whether a doctor will treat a particular child for their symptoms), the ability of the parents to advocate for their child, and indeed whether the medical team have been upfront about their intentions so that parents have the opportunity to discuss and agree the best course of action for their child. I find this all more than a little disturbing; it feels that a decision framework based on actual health difficulties and symptoms rather than the label of a syndrome is overdue if we are to avoid a lottery of health care for trisomy children and their families.
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Thank You Alison for your article and for voicing something that other parents of Edwards Syndrome children feel.
For other medical professionals out there I would like to add my voice to the "Incompatible with life" statement. It is obviously an incorrect medical term for a percentage of children like ours who will defeat the odds. My daughter has full T18 and will be 20 in July. Yes 20 ...and Yes FULL T18. Although she is wheelchair bound and can't walk or talk or do other activities of daily living as deemed "normal" she has led a wonderful life in comparison to what was expected and the prognosis given and is the happiest person I know.
I realize for a high percentage of cases that perhaps is not the case, however, I agree with Alison that there are "ways and means" of preparing parents and interacting with parents to provide balanced realism AND hope at the same time.
For anyone who wishes to, you can go see Heni my daughter on Henibean.blogspot.co.uk to see for yourselves.
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Well done Alison.
Excellent piece of work clearly outling challenges we face with our children, largely based on negative and out of date medical knowledge.
As a parent to a child (she's only 8 months and only diagnosed 4mths ago), I know only too well about the issues you describe. Our Darra was found to have T18 as an 'incidental' finding whilst undergoing investigation for her vsd. All the drs were shocked with the diagnosis-which was initially sold to us as full t18! Despite the fact Darra was VERY well with no red flags and only subtle traits (which were equally described as normal baby traits), we were told 'categorically ' that she had a bleak outlook and would die before she turned 1.
We were advised we would be referred to hospices, would receive comfort care etc when the time came. We were also told that death would be the result of central apnea or respiratory disease-as said Darra was very well and there was no reason to assume she's develop any major complications.
As a nurse and mother I refused to accept the drs diagnosis and prognosis and set about having it reviewed, thankfully I knew what/how to do this, as we know drs aren't always receptive to 'being challenged!
Thankfully the new tests should the mosaiciasm and following other dr reviews the prognosis seemed less bleak.
No one knows what the future holds for anyone, regardless of underlying disease, and I'm disgusted that some clinicians continue to be so 'black&white'
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The contribution of Alison Pearson underscores the challenge of keeping the art of medicine abreast with the science of medicine particularly with regards to dealing with the needs and preferences of patients and their families.1 How we respond to these needs and reflect patient values and preferences along the continuum of care in order to deliver the desired and meaningful benefits for patients, attest to our success in pursuit of patient-centered healthcare whereby treatment plans are arrived at not for but, rather, with patients and their families.
Where medicine is both an art and science, we need to recognize the nature and significance of health metrics which are objective – though imperfect instruments to guide health and health care decisions. Scientific evidence on outcomes is crucial in informing decisions for which the health professional is in a position to facilitate access and help make meaning. From a health law perspective, offering the patient false hope given the clinical circumstances or no hope at all is inconsistent to the physician’s fiduciary obligation of fidelity which requires unscrupulous honesty.2
We, of course, approach and act on health and healthcare information differently.3-5 Coping with and negotiating the next steps given the clinical circumstances need not be challenging where there is effective collaboration between the patient and his/her carer and provider in a relationship of trust.6-7 To do so, we need to hear each other out (as is the intent of this series regarding the patient-carer voice) and appreciate differences in and the exchange of perspectives on health and healthcare since that is the only way to move from the today which we deem could be better tomorrow.
References.
1. Carrera P, Ormond M. Current practice in and considerations for personalized lung cancer care: Looking beyond the molecular profile of the patient. Maturitas 2015; http://dx.doi.org/10.1016/j.maturitas.2015.04.008.
2. Finn PD. The fiduciary principle. In: Equity, fiduciaries and trusts, 1989, Youdan TG (editor). Toronto: Carswell.
3. McVea KL, Minier WC, Johnson Palensky JE. Low-income women with early-stage breast cancer: physician and patient decision-making styles. Psychooncology 2001;10(2): 137-46.
4. Portmann J. A sentimental patient. Camb Q Healthc Ethics. 2000 Winter;9(1):17-22.
5. Rentmeester CA. Should a good healthcare professional be (at least a little) callous? J Med Philos. 2007 Jan-Feb;32(1):43-64.
6. Minkoff H, Lyerly AD. Doctor, what would you do? Obstet Gynecol. 2009 May;113(5):1137-9.
7. Bernacki RE, Block SD2; American College of Physicians High Value Care Task Force. Communication about serious illness care goals: a review and synthesis of best practices. JAMA Intern Med. 2014 Dec;174(12):1994-2003.
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Our daughter is 21 months old and has Full Trisomy 18. Many doctors have been very negative, squelching our joy at Janessa's live birth, her growth, her progress and her development milestones. They have focused on the negative statistics, instead of seeing her as an individual who was breaking records since she was born. Before Janessa was 6 months old she was smiling, bottling, interacting, and enjoying life! She continues to soak up love like a sponge and give it back again! Although life with Trisomy 18 is difficult, we are so thankful for our little treasure. The doctors who give our daughter a chance (with medical treatment) and rejoice in her life and accomplishments are so special and appreciated!
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Re: Never say never about our child
Thank you for a well written article. I too was a Mum to a child with Edwards Syndrome, and your words echo everything that I feel. Our daughters condition was not picked up in my pregnancy, and we only found out when she was 2 days old. The 'Incompatible with Life' label that comes with such a prognosis irks me tremendously. We are all Incompatible with Life surely, as none of us hold the key to eternity. My daughter, whilst her time with us may have been limited, loved life. We were able to take her home, we succeeded in bottle feeding her for a while, took her to music classes, massage classes and even swimming.
I cannot fault our community Pediatrician, or the palliative care team that looked after us. Yet to many of the professionals we encountered her right to life seemed to be up for debate. Many fight for the right of unborn foetuses in this country, why was my daughters life deemed any less precious?
We too were pressurized into signing a Do not resuscitate policy. To my relief, we rescinded it, and when her time came to an end, as caring and compassionate adults we were able to make decisions about our daughters end of life care, and what we knew was right. Isn't that how it should be?
I have read numerous responses to this article from other parents affected by Edwards Syndrome, but am saddened that there are few from Professionals.
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