My child is not a diagnosis:

The experience of parents who lived with a

child with trisomy 13 or 18

Annie Janvier, MD, PhD, FRCPC

Unité d’éthique clinique Barbara Farlow, BEng Sci, MBA
CHU Sainte-Justine
 Disclosure

• The authors describe no conflicts of

interest
• Grant from Fondation Go
 Overview
• Story of our collaboration
– Giving parents a voice: research methodology
– Family experiences
• Prenatal experiences
• Recommendations for healthcare providers
• Medical interventions and trisomy 13 and 18
 “Trisomy 13 or 18 or something
equally lethal”
• Incompatible with life
• Given no hope for anything positive
• “What is the point of this?”
 Parent support groups
• After any diagnosis, patients increasingly turn
support groups
– Rare conditions, online support groups
• Parents in groups share their day to day
challenges of caring for a child with T13-18 as
well as medical info and info related to death
and bereavement
• Caring, supportive atmosphere
Not what we expected.
Special sibling relationships
 Physicians as parents

Clockwise from top left:

Sofia Poulin, age 6 Full T13
Julia Childress, age 1 Full T18
Lyndsay Stockman age 12, Full T18
Tessie Campbell, age 15, Full T18
Anaya Hollingsworth, age 4, Full T18
Christopher, caitlyn

Cardiac surgery
Funeral of Caleb, Age 3, Full T18
Prenatal plan of care: Provide care and
interventions independent of disability.

We understand grim statistics-likely switch to

comfort care. Don’t want burdensome care.

Could our baby live a happy, comfortable life

for a few years?
 Annie is born!

Apgars 8 and 9. Trisomy 13- no major

brain or cardiac anomalies
Plan of care
Annie’s Homecoming
6 weeks
Age 75 days. Red face, episodic
respiratory distress
 Coroner’s Pediatric Ctte Report

• “The events of the final 24 hours ……do

not represent appropriate forms of care”

• “... it was by no means certain that she

[Annie] would have to undergo
prolonged burdensome interventions
such as prolonged ventilation or
distressful surgery.”
 How did this happen?

?
-Death not as we wished.
-Felt devastated, deceived & hurt.
-Trust violated. “Charade”
-Judged as incompetent parents.
Government educational materials
(Cyclopia)
Family perspective (Cyclopia)
 What I learned during my training
about trisomy 13 and 18

• 10% survival at one year

• Severe disability in survivors
–Questionable quality of life
Conventional medical-ethical view

Life-prolonging interventions not

recommended for these children
– Many local and international policy
statements support this view
 Expert Opinion
• Children are in pain & endure extreme discomfort
• They are a burden to their families and themselves
– Have no QOL, cannot communicate
– Destroy couples, harm families
– Financial burden

• Parents who want to prolong the lives of their

children may not act in their best interests
 Research to obtain “the evidence”
Humility and Curiosity

Unité d’éthique clinique

CHU Sainte-Justine
 Methods
Collaborators: Dr Benjamin Wilfond
• Internet questionnaire
• Inclusion criteria: parents who belong
to a T13-18 support groups and who
had (or have) affected children
• Mixed methodology
• Quantitative questions and open ended
questions
 Research with families
Not research about families

Unité d’éthique clinique

CHU Sainte-Justine
 Results
• 503 parents received an invitation to participate
– 503 e-mails were sent, 438 site visits

• 332 parents participated

– 87% response rate as a proportion of parents who
opened their e-mail, 66% of total parents
• 74 fathers and 258 mothers
• Older educated parents
• 77% are US citizens
• 40% had a prenatal diagnosis
Parents report being told that their child
(n=332)
• Was incompatible with life (87% )
• Had a lethal condition (87%)
• Would be in constant pain (57%)
• Would be a vegetable (50%)
• Would have a life of suffering (57%)
• Would live a meaningless life (50%)
• Would ruin their family (23%)
• Would ruin their marriage (23%)
 What were your hopes?
• Meet my child
• Bring my child home and be a family
• Child has a good life
 Wishes and fears
• Giving my baby a chance
• Knowing I did the best I could for my child

• Fears: pain, medical complexity, life in the

hospital
 Parents report feeling
• Pressure to terminate the pregnancy (61%)
– “Why are you still here? Should we schedule a
termination?”
– “This is the best option (termination), the only option.
In fact, it is almost already dead”
– “You will have to find another doctor to follow you if
you do not terminate”.
• Judged for the decisions they took (64%)
(compared to 24% when post-natal
diagnosis)
 Children
• 272 children: 79% with “full” trisomy
• 120 are still alive, 4y median (34% > 10y old)
• After the diagnosis, 25% of parents chose
Life sustaining interventions
 “Full” T13-18 Children who
are alive (n=172)
• Significant disabilities but progress over time
• 98% of children live at home
• 1 has a tracheostomy with ventilation
• 8% need home oxygen in a permanent
manner
• 38% always need gastrostomy to feed
• The longer they live, the “stronger they are”
 “Full” trisomy children

• 160 children lived longer than 3 months,

100% of them smiled
• 98% of parents report being able to
communicate with their children and
understand their needs
 Parents of children who live(d)
(> 3 months; n = 160)
• 53% state that their child experiences (ed) more
pain than other children
• 48% recognize that caring for a special needs
child is (was) more difficult than they thought it
would be
• 42% state that they had to make significant
financial sacrifices
 Parents of all children
Yet, 98% report that the overall effect of
their child’s life is (was) positive, that their
child was (is) a happy child, that their child
enriches (ed) their life, the other siblings’
life (83%) or their marriage (75%).
– Only 3% separated…
“My son gave me more joy than I could have ever imagined.
He has made me a better mother to my two girls. He taught
me what it means to love knowing you may get nothing in
return. He may never have walked or talked, but he would
have given and DID GIVE us such happiness. Owen did not live
long, but we were a happy family. I would give anything to
have a chance to raise him. Owen loved his mobile. He loved
his music. He loved his sisters. He loved sitting in his daddy's
lap while he worked. He loved his nurses and he loved his
stuffed turtle. He was my son. He meant something to me.
He was compatible.
He was compatible with my family.
He was a son. A brother.
A nephew and grandson.”
 “What would you like healthcare
providers to know?”
Parents give recommendations

Unité d’éthique clinique

CHU Sainte-Justine
Important healthcare providers
• 60% of parents met a special provider
• All professions were represented
• Parents describe a provider they can trust
 “You are important”
“He made a difference in our family’s life and will be
in my heart as long as I live”
“They were thoughtful, caring, and really couldn't
have been more warm and loving towards me. I
will forever remember their kindness.”
“She was there with us, she knew our baby... We
shared moments of such intensity we did not
share with anybody else.”
“I will always admire him as a surgeon, but most
of all as a human.”
 Stories of broken trust
• Shattered dreams, “what should we do?”
– Parents in shock, lost and uncertain
– Vulnerable when they meet providers
After meeting some providers:
• They feel their child has no value
• They feel lied to, they lose trust
– Physicians believe their child is better off dead?
• They may become “difficult” and suspicious
– They demand interventions
 Words that lead to mistrust
(Janvier et al, Pediatrics 2012)
• “Incompatible with life”, “Lethal”
– Instead: “Life limiting condition”
• Labels: “FLK in room 21”; “Tee13”; “difficult
parents”; “The Edward’s mom”
– Instead “Trish”, “parents in a difficult position”
• Doing “nothing” and “everything”
– Instead: “Everything for your child to have a
good life”
• No hope
 Small hopes and bigger hopes
Adaptation of hope
• That Annie will survive and have a good
quality of life
• That Trish has the most comfortable life
possible
• That Trish dies pain free
• That looking back, you have no regrets. You
did your best for your baby’s short life.
• That our family can heal
 Developing trust: 3 themes
KNOWLEDGE EMPATHY SUPPORT
and caring
-General: about -Importance of -HCP discloses
condition decision for family biases/policies
-Specific: about child -Does not judge nor
abandon parents
Humility and curiosity: -Parents are doing -Provides reasonable
-Limitations of the their best hope
evidence
-Each child is different
-Balanced information -Child is valuable -Advocates for family
and child
 Insensitive actions / comments
• CHILD IS REPLACEABLE: “Termination is the best
option”; “You can have another one”
• QUICK DEATH IS OPTIMAL: “His life will be full of
pain, the quicker he dies the better”; “We should
decide for a DNR, you should get on with your life”
• CHILD WILL HARM FAMILY: “Many couples
divorce”; “You should think about your other
children”; “this is not fair to your family”
• NOTHING TO BE DONE: “We don’t do anything for
Edwards”; “NICU is not an option for Tee-13nz”
 Curiosity
• Do they have a name?
– “Tell me about…”
• What scares them the most?
• What are their hopes?
– Can these goals be achieved?
• Tolerate silence
 Child is unique
• “This is what the book says, but let’s look at
your baby”
• “He described all the organs that were
malformed but also those who were not. He
didn't only tell me what children cannot do, he
told me what they bring to their families."
• “She gave us balanced information. She was
the first one to speak about a good life for
Caleb rather than a good death”
 Parents are good parents
• “He is lucky to have a mom like you”
• “You are taking great care of him”
• «Caelum is lucky to receive your milk, it is liquid gold. Thank
you for bringing it »
• « You are such a great mother, trust yourself. It is not easy,
but it will get better »
• “These are difficult times. The most important thing for
Jacob right now is to have parents who love him like you do”
• “Show us your notes, you know him best”
• “wow, you have found all these articles on line, how do you
have time to do this?”
 Support and empowerment
• “Whatever happens we will be with you and
your baby”
• “Trust yourself, you are great parents. You
will become different people and be able to
do things you never thought you could do!"
• “He always supported us, even though I think
he would have wanted us to decide for
palliative care; he helped us get the life we
wanted for her”
 Rewriting the story
• Balanced counselling
• Rewriting the story : it will not always be like
this
• Spectrum of condition
– “ We see children like Trish in this hospital,
sometimes…. Other times… we hope….”
• What will be done, not what won’t
• Provide reasonable hope
 Personalized decision-making
• Information: “We meet many parents. Some
parents want a lot of information, numbers….
others want the big picture… what kind of parent
are you?”
• Decision: not always shared decision-making
– Who decides? “ We meet many parents…”
– Advanced directives may harm the family

• If the child is dying, speak about what will happen

practically
 Limitations and strengths
• Questionnaire studies have inherent
limitations
• Selected group of parents = bias by design
• Nonetheless, largest cohort of families and
children with this condition
Medical View vs. Parents’ View
 Medical interventions for
children with trisomy 13 and 18:
finding an appropriate balance
 Traditional medical-ethical view
of futility
• In these cases the potential for cognitive
development – and therefore the achievement of
human and social goods, e.g. relationships with
others – are virtually absent.
– Chervenak FA, McCullough LB.
• We have the technological ability to save these
infants. This leads us to the ethically hard question:
Because we can, does this mean we should?
– Catlin A.
 Intervention and survival
• COMFORT CARE: A third of newborns who
received comfort care died before 3 months
of life, a third survived beyond one year

• INTERVENTION: A third of newborns with a

plan of full intervention died by the age of 3
months, half survived beyond one year
 Trisomy 13 and 18 are heterogeneous
conditions
• Interventions may be beneficial to some children,
but may also be a burden to others
• Hard to tell these groups apart
• Does a VSD surgery hasten the death or prolong the life
• Without this surgery, do children have a better life?
• Research needed in this area: severity score?
Associated with decreased survival
in our cohort
• BW less than 2000g
• Holoprosencephaly
• Cardiac malformation
• Prenatal diagnosis
What is comfort care for a child
with trisomy 13 or 18?
 Which intervention?
• Obstetrics ultrasounds and foetal monitor
• Caesarean section (foetal distress or repeat?)
• Suction, free flow oxygen, PPV, intubation
• Bilirubin screen, phototherapy
• Newborn screening, hearing screening
• Breast feeding support, IV, TPN, tube feed
• Antibiotics (PO, IV?)
• Home oxygen
• Surgeries: gastrostomy, abdominal, heart
 Costs
Effects on interventions in society

Fiscal scarcity is a legitimate concern

– Finite resources, aging population, costly new
technologies…
 What bothers us about the costs for
trisomy 13 and 18 children?
• The children who die despite interventions?
– 50% of patient days in ICUs are for patients who die
– 10% in the NICU
• The limited survival after interventions?
– Predicted survival < 1y after ICU is frequent
• That children may survive with interventions?
– Not an outcome that justified interventions
“System by system [children with T-18]
could undergo interventions; to my
knowledge, the infant-level of intelligence
would not change.”

Catlin A. Trisomy 18 and choices. Adv Neonatal Care.

2010 Feb;10(1):32.
 Not an outcome that justifies the use of
precious resources?
• Can also be said about interventions for any adult
with an economically unproductive lives, dependant
life-style and limited interaction with others:
Alzheimer, Parkinson, stroke, dementia, quadriparesis,
Neurodegenerative diseases, etc…
• Underlying issue is less the costs of care than the
value of the child
 Refusing interventions
for trisomy 13 and 18
• Can be a rational societal decision
• Economic problem: Trisomy 13 and 18 are rare
• A minority of babies are born alive
• Many parents opt for comfort care
• Some children survive without interventions
• Economic problem: we would not save a lot of
money
 Equity for critical patients
• If we deny interventions to these children
• We should ALSO withhold ICU from numerous
individuals with incurable diseases, life-limiting
or neurologic conditions and limited ability to
interact
• Babies with T13-18 are rare
• Fragile adults are not rare…
– 25% medicare budget: patients in last year of life
• We would save A LOT of money
Moral enhancement?
 Humility
• Speculations from experts about the value of
these children and the QOL of their parents are
abundant in the medical and ethical literature
– Opinions-based medicine
• Parents are not silent, but they have not been
given a voice in the debate between experts
– Families are not considered to be the experts of
their loved ones
 Conclusion
• Research “with” families could replace
research “about” families
• Parents describe children who have value and
enriched their family lives and their couple
irrespective of the length of their lives
• Trisomy 13 and 18 are heterogeneous
conditions
 Medical interventions for
children with trisomy 13 and 18:

Finding an appropriate balance

Not always
Not never
 Speaking with parents

Their child has value

They are good parents
Personalized information and decision-making
They will be able to rewrite their story
We will be with them

TRUST
 One step at the time
• Avoid the long menu of advanced planning
• Decisions about potential complex
interventions need not be firmly decided upon
prenatally, but be forthright about care
options for “stable” children
• Support parents towards taking it one step at
a time
I just completed the survey and I want to tell you, I
loved the questions. I was able to tell of the frustration I
experienced when trying to find positive info on this
condition. I really enjoyed talking about the positive
physicians. It felt very therapeutic and the words flowed
from my fingers.
If my survey answers have a
positive impact on just one
doctor or family, I would be
completely satisfied and it
would be part of Bristol's brief
but profound legacy.
Jeremy Elliott