“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 of Psychology, San Jose State University

3Department of Pediatrics, Ventura County Medical Center

4Institute 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-upassist 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).

RecruitmentAt 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 yourself-out 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 English-speaking 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.

AcknowledgementsDartmouth-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.