“Welcome to Holland:” The Impact on
Parents of a Diagnosis of CCHD
Joanna Fanos1.2, Christopher Landon3, Monica McClain4
1Department
of Pediatrics, Geisel School of Medicine at Dartmouth
2Department
3Department
4Institute
of Psychology, San Jose State University
of Pediatrics, Ventura County Medical Center
on Disability, University of New Hampshire
Background
It is estimated that approximately 2 of every 1,000 live births
will have critical congenital heart disease (CCHD) (Mahle et.
al., 2009). In the past, infants with this disorder frequently were
not diagnosed prior to discharge, which resulted in illness or
death.
Pulse oximetry had been proposed as a routine newborn
screening (NBS) test for CCHD. If positive, a confirmatory test
(i.e., cardiac echocardiogram) can be done, and surgery or
catheter intervention conducted.
Background
The Secretary’s Advisory Committee on Heritable Disorders
in Newborns and Children, in collaboration with the American
Academy of Pediatrics (AAP), the American College of
Cardiology Foundation, and the American Heart Association,
were tasked with outlining implementation strategies for CCHD
NBS, which were published (Kemper et al., 2011).
In 2012, the AAP published its endorsement of the
Secretary’s recommendation for pulse oximetry screening for
CCHD (Mahle et al., 2012). Currently most states are screening
newborns for CCHD.
Study Goals
The aims of this project were to:
 identify parents who indicate symptoms of distress that
may need referral for follow-up
 assist in the development of processes of CCHD NBS
screening that will improve health outcomes for newborns
with CCHD and their families.
Our hypothesis is that learning that one’s child has CCHD is a
potentially distressing experience.
Recruitment
Dartmouth Hitchcock-Medical Center (DHMC) (Bonny
Whalen, M.D.),
UCSF Benioff Children’s Hospital Oakland (Alok Bose, M.D.
and Ziad Saba, M.D.)
Ventura County Medical Center (VCMC) (Christopher Landon,
M.D. and Fred Leong, M.D.).
Recruitment
Initially, our plan was to interview only parents whose
children were diagnosed with CCHD as a result of routine NBS.
However, there were only approximately 1-2 families a year
whose child was diagnosed with CCHD via newborn screen at
each site.
Since there are so few infants who meet the strict criteria of
identification of CCHD via an established NBS program, we
expanded our criteria to include
 infants identified post-symptom
 families who spoke Spanish.
Recruitment
The study was approved by the Committee for the Protection
of Human Subjects at the Geisel School of Medicine at
Dartmouth, the IRB at UCSF Benioff Children’s Hospital
Oakland and Ventura County Medical Center.
The physician at each site contacted parents, either by phone
or during routine clinic visits, and obtained permission to give
J.F. or a team member their phone number.
Upon contact by J.F., if appropriate, parents were asked
which language they would prefer for the interview; if their
wish was Spanish, J.F. then asked if she had permission to give
their name and phone number to the bilingual interviewer
(Laura Bava, Psy.D., Children’s Hospital, Los Angeles).
Recruitment
 At DHMC, the only family who had been diagnosed via NBS
spoke neither English nor Spanish and therefore did not meet
the criteria for inclusion.
 At UCSF Benioff Children’s Hospital Oakland, only 2
families met the strict criteria; both families agreed to have
their name and phone number given to J.F., but only one
family could be reached.
 At VCMC, one family met the strict criteria, and 8 met the
expanded criteria.
Qualitative Interview
 Participants were interviewed individually over the phone for
approximately 1 hour.
 Topics included their response to the identification of their
infant with CCHD, their experience with medical procedures,
surgeries, and, if needed, heart transplant, and
recommendations they have for improving the delivery of
such medically complex and emotionally difficult news.
Standardized Questionnaires
 The Patient Health Questionnaire (PHQ-9).
A 9-item screening tool for depression with four response
options. The diagnostic validity of the PHQ-9 was established
in studies involving 8 primary care and 7 obstetrical clinics
(Kronke et al., 2001).
 The Child Vulnerability Scale (CVS).
An 8-item self- report scale with 4 response options to measure
parental perception of child vulnerability. The CVS was
validated with a non-chronically ill pediatric sample of 1,095
mothers of children 4–8 years old (Forsyth et al., 1996).
Description of Sample
10 parents (2 fathers, 8 mothers) from 9 families.
UCSF Benioff CHO (1, 1 family); VCMC (9, 8 families).
22 to 53 (M 38); 21 to 40 (M 28) at birth of affected child.
6 married; 2 in committed relationship, 2 divorced.
8 English speaking/ Caucasian; 2 spoke only Spanish (from Mexico).
Median education was between some college and college degree.
Median income $30,000—60,000.
Offspring of Sample
 The number of children ranged from 1 to 4 (median = 3).
 Three affected were first- born children; 2 middle, 3 last born
(1 only child).
 Of those 5 families who had subsequent children, 3 families
had another child within 1 year following the birth of the
affected.
 Range of ages of the affected children at time of interview
was 1 to 18 years; mean age of affected children 9 years.
Diagnoses
2 children diagnosed prenatally, 2 NBS, 5 post symptoms.
Tricuspid atresia (1)
Hypoplastic left heart syndrome (3)
Transposition of the great arteries (2)
Interrupted aortic arch (2)
Congenital mitral valve insufficiency (1)
Results:
Patient Health Questionnaire (PHQ)
 The overall scores on the PHQ fell well within the norm.
 One mother had an overall score of 9 (5-9 = minimal
symptoms. However, on item 6 (feeling bad about yourselfout of 2 weeks), she responded “more than half the days”.
 One mother had an overall score of 11 (10-14 = minor
depression. On item 6 above, she responded “nearly every
day.”
Child Vulnerability Scale (CVS)
 On the CVS, 6 out of 10 parents fell within the normal range.
 Four had significant scores (10 or greater overall scores)
indicating some distress over their child’s health.
 The fact that 6 parents were within the normal range despite
having a child with CCHD is indicative of the overall rather
impressive level of adaptation they had achieved despite very
real ongoing medical concerns.
I. Diagnosis via NBS
Two families met the classic criteria of diagnosis via
newborn screen. One mother lived in the US for only several
months prior to diagnosis. She was quite distressed due to her
being in a different hospital than her child, her difficulty in
understanding why this had not been diagnosed during
ultrasounds, and language problems that made it difficult to
understand the diagnosis.
Diagnosis via NBS (cont.)
Once the pediatric cardiologist was involved, she began to
feel calmer, since he appeared self-assured and confident. She
found it problematic that the pediatrician and the specialists
were not consistent with each other, and hoped that their
communication would improve. When the cardiologist
explained that the condition was rare, she questioned what she
had done during her pregnancy:
“He said that one in… I do not know how many thousand
kids have that. Then I was like, ‘Why me’? I thought I did
something wrong.”
Diagnosis via NBS (cont.)
The other mother was told by the physician that she was
fortunate that she learned of the problem prior to discharge,
since her baby undoubtedly “would have died at home.” She
stated that the word “die” was extremely difficult to hear in
relation to her child. In addition, medical staff kept telling her
that they had never seen such a young baby before that needed
a mitral valve replacement:
“They’re basically telling you they don’t know how to
handle it. They don’t know what the best approach is
because they’ve never seen this before.”
II. Diagnosis Post Symptom
5 families received the diagnosis shortly after birth,
generally within a few hours. One mother was given her baby
to hold, but the nurses kept telling her she needed to keep him
warmer, since his color was not good. The suggestion that she
was not caring well for her infant during the first day and
evening hurt her feelings. Interns would come by and suggest
that maybe the child had a metabolic disorder, or he might have
cystic fibrosis:
“We were so, so confused. We didn’t understand who was
the ‘important’ doctor and who was a ‘nobody.’”
Diagnosis Post Symptom (cont.)
She felt that it would have been helpful to have been given
more understanding of variables that might make her child’s
long-term outlook more positive, as well as an appreciation for
the fact that, while their child did not do well at first, the
situation might improve later on. She explained that it would
have been better for her to hear this journey has a “ton of hope”:
“We didn’t know that there were kids living with this
heart condition that were thriving, so we felt like we had
been handed a death sentence.”
Diagnosis Post Symptoms (cont.)
They were given a choice between two hospitals, but they
didn’t understand upon what to base the decision. They chose
the one in the most appealing geographic area, which she
realized was not the best way to make that decision.
She understood that the center where she had the baby
infrequently encountered this diagnosis, since it was not a major
tertiary center, but believed that their anxious handling of the
diagnosis increased the stress level. She strongly suggested
that, as NBS for CCHD goes forward:
“We need better equipping of those first responders.”
III. Prenatal Diagnosis
2 families received the diagnosis prenatally. One mother is
grateful that the problem was identified in utero, but remembers
that, since she was 8 ½ months pregnant, she had to “carry
around the weight of ‘Oh, there’s already something wrong.’”
The image of her son in the hospital was traumatic,
resulting in a dissociative response:
“Imagine my surprise when I realized there was only
surgical Saran wrap between my son’s heart and the rest
of the world. When I saw his heart beating under the
Saran wrap, I looked at it like I was outside myself.”
Prenatal Diagnosis (cont.)
She was very upset that she was not able to hold her son
before they took him to the NICU. Finally, a nurse asked her if
there was anything she could do before they took him to
surgery, and she asked if she could do so. She recalled: “I
didn’t get to hold him but for 30 minutes before they took him
and split him open:”
“Having to hand him back to her so they could do the
surgery was like the worst thing ever. Like handing
someone your most prized toy.”
Prenatal Diagnosis (cont.)
The other family learned of their child’s condition via routine
ultrasound. The father felt that it was a blessing that the
diagnosis was in utero because they were able to start
researching hospitals and surgeons, and establish backup, prior
to the birth of their child. They felt fortunate because the
ultrasound technician had just completed a cardiac course,
reporting that had he not, he may not have had the
sophistication to recognize the problem.
Desire for More Medical Information
Many parents (70%) suggested the medical team provide them
with helpful computer links that are down to earth, not a lot of
“medical jargon.”
“When they come at you with these huge words, your brain
is spinning because you’re in a world you didn’t expect to
be. You’re trying to ‘remember this, remember this’—and
with stress like that, you don’t.”
Guilt and Self Blame
Mothers (5 out of 8) had a particularly difficult time,
believing there was something that they had done to cause this.
A mother had not known that she was pregnant when she
took prescription diet pills: “That’s always in my head--I
wonder.” Despite speedy reassurances from physicians, they are
not able to be able to remain convinced. One mother explains:
“I worry that I’ll find there is something I did, even though
they say there’s not. I believe there’s probably not, but I
worry that someday I’ll find out there is.”
Guilt and Self Blame
One mother explained that during her pregnancy with her
first child, she had asked God to send her a healthy baby, but
with her affected child, she did not pray. “ I feel guilty, I feel
there is a reason God sent him like this.”
Another mother explained that she has always had a
“disconnect” with her children because she never really planned
on having them. She continued:
“Life had a different plan. So I do the mom stuff, and not let
them see that this isn’t the life that I chose for myself.”
Dreams of Threat to Home and Family
60% of parents had repetitive frightening dreams related to
anxieties about keeping their family safe. One mother has
dreams of large snakes getting into the home; in her dream they
keep trying to bite her. She dreams of bulls running outside:
“the house, the family—like they want to come in.”
A mother dreams that no one is watching her daughter,
resulting in her being injured; she also has dreams in which she
is driving with her daughter, and, upon arrival, realizes that she
didn’t have her buckled in her car seat: “Those dreams where
you’re worried about what’s going to happen.”
Psychological Impact on Siblings
Of the 8 families with siblings, 6 parents (5 families)
reported concerns about their other children. Parents reported
close attachments between the affected child and their brothers
and sisters. One mother remembered that when her daughter
was very young, her brother had a surgical procedure in the
hospital, and her daughter was sitting beside him in her stroller.
Upon his waking up from the anesthesia, she climbed into the
hospital bed with him.
One mother reported that her daughter worries that she might
develop the same defect as her brother.
Psychological Impact on Siblings
Parents try to keep their other children involved, so they
won’t feel left behind or not understand what is happening.
Often that means they spend days in the hospital during the
surgeries of their sibling. One mother was grateful that the
hospital allowed their 7-year old son to be in the room with
them right after school. Commenting that “he was a very good
trooper”, she said he he had made himself a little corner in the
room and did his homework and entertained himself:
“He is very much aware, and I think his innocence was taken
away. I feel bad for him because he doesn’t just get to
play…he plays, but it’s with worry.”
Psychological Impact on Siblings
One mother reported that when she was pregnant with her
youngest child and had an ultrasound, her young daughter
would become excited to hear that it had a whole heart, “like
every baby has a chance of having half a heart—that’s how she
thinks.” One 7 year-old girl plans to be a pediatric cardiologist.
Even very young siblings try to protect their parents from
feeling sad by not showing their feelings. One mother recalled
that, when she was explaining things to her daughter, then 4 ½:
“My daughter understood. There was a moment when I was
explaining things that I saw her visibly make a choice not to
cry and to be strong, and I know she was doing it for us.”
Psychological Impact on Siblings
There is resentment that the affected receives special
privileges. In one family, the 8 year old has often found his
brother having seizures. When asked if the potentially traumatic
events he had witnessed were discussed in professional family
conferences, she said no. Frequently having been hospitalized
with Bipolar Disorder, her son says to her:
“I don’t know why I’m doing this. I want to be good. I love
you and don’t want to upset you or Dad, but I just don’t
understand.”
Coping and Support
Families with a strong spiritual faith (60%) found comfort in
their beliefs. One mother suggested it might be helpful to have a
chaplain talk with parents while they are still in the hospital.
4 parents found hearing from parents who had a child with
CCHD helpful. One mother reported a mother sent her a picture
of her 3- year old son playing baseball, and wrote that her son has
the same condition that her son had, and that it would be okay.
Another mother suggested medical professionals have parents
who have gone through it “talk to the newbie”, finding it more
helpful to talk with someone who has lived through it directly.
Discussion:
Period of Diagnosis
The fact that in the interview, mothers were able to report a
day-by-day—at times hour-by-hour —recital of medical events
is indicative of the impact of such a diagnosis.
When they recalled the time of diagnosis, they found it
chaotic, but were able to calm down when the pediatric
cardiologist arrived; they appreciated a confident demeanor.
Parents wish they had known more about their options of
centers and surgeons. Consistent with findings of Arya et al.
(2013), our parents wanted more information than medical
providers provided.
Maternal Guilt and Blame
The word “rare” in explaining the occurrence of the diagnosis
was harmful. Similar to Hilton-Kamm et al.’s (2014) finding,
“rare” was interpreted by parents as poor chance of survival. It
contributed to participants believing that it was more likely they
did something to cause it. In addition, they assumed the medical
field lacked information and thus their child would not do well.
Mothers continue to struggle with concerns over the cause of
the condition, confirming the guilt reported by previous studies
(Masi & Brovedani, 1999; Saenz et al., 1999). Many worry that
there may have been something they did or did not do that
caused this.
Spanish-speaking Families
Those 2 families in which only Spanish was spoken
appeared to be at the most risk of distress. They had few
financial resources, had difficulty understanding complex
medical terms despite translators, had “machismo” husbands
with cultural beliefs that taking care of children was women’s
work, and felt trapped in the US with little to no emotional
support. We echo Landolt et al.’s 2011 recommendation that
those from foreign countries and lower SES need to be given
more attention.
Siblings
Siblings are at particular risk of psychological difficulties.
They had witnessed terrifying and traumatic images of medical
problems of their brother or sister. Cabizuca et al. (2010)
reported parental PTSD remains “invisible” (p. 1) to the
medical system, leading to under-diagnosis and lack of
treatment. This is true for siblings as well (Fanos & Puck,
2004; Fanos & Strange, 2004; Fanos et al., 2009).
Other than an article by Redshaw & Wilson (2012) on a
program for siblings called Heart Beads, there are very limited
studies on the psychosocial impact on siblings of children with
heart disease.
Fathers
We were able to interview only 2 fathers. Mothers would
assure the interviewer that their husband will be willing to
participate, but repeated phone calls would not be returned.
One mother hoped that he would, thinking that it might be
helpful for him to talk about it since he has panic attacks and
worries about his daughter all the time. Unfortunately, he did
not return phone calls.
One father explained that perhaps fathers are reluctant
because they don’t remember the precise details, “or maybe
they don’t want to remember.”
Welcome to Holland
One father found comfort in “Welcome to Holland” by
Emily Perl Kingsley, c1987). In this brief essay, Kingsley, the
mother of a special needs child, uses an analogy of being on a
plane to Italy, for which she has planned for years, and instead
the stewardess announces that they have arrived in Holland.
She documents the difficulty and necessity of having to accept
the unexpected.
She cautions that, if one continues to mourn the loss of the
planned life, one would miss the beauty and joy inherent in the
new and unexpected life.
Recommendations
 Training of first responders is essential, especially in birthing
centers and small hospitals that will not be familiar with
handling this diagnosis.
 Parents want guidance about which hospitals and which
surgeons have the best reputation.
 Consistency of diagnoses and between providers avoids a
roller-coaster ride of hope and disappointment. Providing
hope is important.
 Parents want to know that, while the diagnosis may be
severe, their child may have mitigating medical variables that
improve the outlook.
Recommendations
 Mothers struggle with lingering concerns they did something
wrong during their pregnancy to cause CCHD. Words such
as “rare” or “die” are powerful and not helpful.
 Attention needs to be given to families with limited Englishspeaking skills. Research needs to be directed to the
experience of fathers and siblings.
 Connecting a parent who is further along in the process to a
parent with a newly diagnosed child can be very helpful.
Encouraging families who hold a spiritual belief to seek
counsel is also recommended.
Acknowledgements
Dartmouth-Hitchcock Medical Center
Bonnie Whalen, M.D., Colleen M. Whatley, M.S.N, R.N.
UCSF Benioff Children’s Hospital Oakland
Alok Bose, M.D., Ziad Saba, M.D.
Ventura County Medical Center
Fred Leong, M.D.
Institute on Disability, UNH
Jennifer Rabalais, M.A.
Karen Smith, B.A.
We thank the families who shared their stories.
This project is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and
Human Services (HHS) under grant no. H46MC24060, CCHD Demonstration Project, total award amount $900,000; and under
grant no. 46UMC24093, New England Genetics Collaborative, total award amount $3,000,000 (both 100% governmental
sources).This information or content and conclusions are those of the author and should not be construed as the official position
or policy of, nor should any endorsements be inferred by HRSA, HHS or the U.S. Government.