Psychological Stress Associated With Cardiogenetic Conditions

Nadia Hidayatallah; Louise B Silverstein; Marina Stolerman; Thomas McDonald; Christine A Walsh; Esma Paljevic; Lilian L Cohen; Robert W Marion; David Wasserman; Sarah Hreyo; Siobhan M Dolan

Disclosures

Personalized Medicine. 2014;11(7):631-640. 

In This Article

Results

The total sample was primarily female, white, middle class and married, although there were 16 single individuals and three adolescents. More than half of sample 1 was Latino or of African descent (n = 15), while the majority of the other two samples was white.

Table 2 displays interview data organized into repeating ideas and themes that were relevant to the psychological reactions of participants who had experienced cardiogenetic conditions and the sudden death of a family member.

Theme 1: Bereavement

A total of 31 participants reported extended periods of bereavement.

"I was Absolutely Numb". All sample 3 participants had experienced the death of a child, and most described complex reactions to the loss, including initial disbelief and despair. "I could have taken one of the steak knives and cut off my leg, and I knew I wouldn't feel it … I was absolutely numb" (sample 3 white woman, 42 years of age).

Other participants said that the death of their child was difficult to process because it contradicted the expectation that parents will die before their children. "I remember it like it was a dream … it's not the normal order of things" (sample 3 white woman, 38 years of age).

Most bereaved participants described their deceased family member as a formerly healthy individual free of medical complaints, leaving family members feeling shocked and confused."We were very puzzled about what could have caused [our son's] death. He was in the Marines; strong, healthy" (sample 2 African–American woman, 52 years of age).

One husband and wife specifically noted the difference between losing a child suddenly versus losing a child to a chronic illness. "You still lose a child in a chronic illness – but it is not unexplained – it is not sudden … you know the cause … you probably got to say goodbye to your child. I did not get to do that" (sample 3 white woman, 33 years of age).

"I Need to Know What Happened". Bereaved participants expressed the importance of clarifying the cause of death of their loved one and discussed their search for an explanation. One mother was desperate for a medical explanation to expel rumors about substance abuse and foul play. "Suspicion was all around what really caused the death … we wanted a death certificate, and we wanted the medical examiner to be thorough" (sample 2 African–American woman, 52 years of age).

Even when participants were given an explanation of their loved one's death, some were left unconvinced and unsatisfied. "Doctors initially came up with a diagnosis of acute bronchopneumonia, which didn't sit well with my pediatrician … we didn't think it was right" (sample 3 white woman, 38 years of age). Other participants felt frustrated about being left without an explanation for months and even years. "I went 15 years without knowing why my daughter died" (sample 2 White woman, 49 years of age).

"It Haunts You Forever". Some participants had a particularly difficult time accepting the death of their family member. "It haunts you forever, your life is never the same … I couldn't go to work for months" (sample 1 white woman, 55 years of age). The impact of the death often negatively affected multiple members of the family. "It was very hard to integrate [my husband's death] … my daughter had symptoms of [post-traumatic stress disorder]" (sample 1 Latina woman, 55 years of age).

Some participants reported that other family members blamed them. "My mother-in-law told me that my daughter's death was my fault … There's a lot of blame in this family around the death" (sample 2 white woman, 45 years of age). Several participants became significantly more hypervigilant after the death of their child, especially in regards to health concerns about other children. "I am constantly afraid. I was constantly watching my kids sleep" (sample 3 white woman, 33 years of age).

Theme 2: Reactive Anxiety

"I Have a Lot of Guilt". Participants consistently expressed worry for the next generation. Some parents felt guilty that they had transmitted a potentially fatal condition. "I didn't do my job as a mom. I am the carrier" (sample 2 white woman, 46 years of age). "I still feel like there is something that I could have done" (sample 3 white man, 37 years of age).

The possibility of passing the mutation on to future generations affected some individuals' plans for childbearing. "My husband and I are looking at preimplantation genetic diagnosis and in vitro fertilization in order to have a child without long QT" (sample 1 white woman, 34 years of age).

"I was the Only One". Some participants felt that others could not relate to what they had experienced. "A normal 21-year-old doesn't have four EKGs; they don't have stress tests" (sample 1 Latina woman, 21 years of age). One participant talked about her experience of isolation as a child due to the preventive measures that she was advised to take. "I had to sit out in gym all the time … I was frustrated that I had to wear a heart monitor to school, and I tried to hide it" (sample 1 African–American young woman, 17 years of age).

"It'll Always be in the Back of my Mind". Participants who had received negative or inconclusive genetic testing results continued to deal with uncertainty, realizing that negative results did not guarantee health. "Why was I having all these seizures and everything? The negative results don't mean that I don't have it" (sample 1 white woman, 25 years of age). "This is kind of confusing. It says, 'This result does not rule out a diagnosis of long QT syndrome.' It'll always be in the back of my mind" (sample 1 white female adolescent, 17 years of age).

"How do I say [To my Child], 'I'm Afraid you Might Die'?". Anxiety and ambivalence about sharing genetic information occurred in some families with children and adolescents. Parents struggled over when and how much to reveal to their child about the disorder. "How do I say to my daughter, 'I'm afraid you might die'?" (sample 1 African–American woman, 29 years of age). Two sample 1 families were so anxious about telling their adolescent sons about the seriousness of the disease that they kept the presence of a genetic mutation in the family a secret. The result was that one son did not undergo genetic testing. "We wanted to wait to tell our son until he was 18" (sample 1 white man, 61 years of age).

Theme 3: Positive Outcomes

Despite the psychological stress that accompanied their experiences with illness and/or sudden death, many individuals and families ultimately experienced positive outcomes from genetic testing.

"It Gives me Closure". Many participants had lost a relative due to 'unknown causes'. When a family member was tested and learned of the presence of a mutation, they felt a sense of relief because they now had an understanding about what had happened. "It gives me closure, knowing the cause of death [of my son]" (sample 1 African–Caribbean woman, 57 years of age).

Positive test results also provided a sense of comfort and empowered some families to see that living relatives could be treated before the disease became fatal. "I'm grateful that I did find out the kids have long QT … I'm able to help them at a very early age with the medicine" (sample 1 Latino man, 31 years of age).

"Every Day is a Gift". Some participants adopted healthier lifestyles and more positive outlooks. One man, whose wife had died and whose children had inherited a genetic mutation, made a decision to focus more broadly on improving his family's health. "It educated me that health is very important so it's the kind of food we eat, and what kind of habits my children pick up from me" (sample 1 Latino man, 31 years of age).

Similarly, while waiting for her daughter's test results, a mother implemented healthy coping strategies. "I have tried to become more religious and find other ways of dealing with my anxieties … going to a yoga-type class or reading self-help books or doing what I need to be a better person" (sample 1 white woman, 48 years of age).

Other families felt an urgency to live every day to its fullest, and developed a greater appreciation of life. "You realize that every day is a gift … you don't dwell on the negative part" (sample 2 white woman, 51 years of age).

"I Wanted to Create Awareness". All of the sample 2 and sample 3 participants were involved with advocacy groups and participated in educating others about cardiogenetic disease. "I started this [support organization] because I thought – one thing we can do is get people together" (sample 3 white woman, 42 years of age). These activities provided social support through a sense of connectedness to others for some participants. "I spent a lot of time speaking and teaching in many different venues" (sample 2 white woman, 47 years of age).

Summary

Three major themes emerged from the study, including: a specific bereavement trajectory associated with sudden death in the absence of prior symptoms; high levels of anxiety emanating from guilt about transmitting a mutation; and examples of patient resilience reflected in positive lifestyle changes and participation in advocacy and support groups.

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