Motivations of women with sickle cell disease for asking their partners to undergo genetic testing

Social Science & Medicine 139 (2015) 36e43

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Motivations of women with sickle cell disease for asking their partners to undergo genetic testing* Paula Thompson Ross Office of Medical Student Education, University of Michigan Medical School, 3908D Taubman Health Sciences Library, Ann Arbor, MI 48109, USA

a r t i c l e i n f o

a b s t r a c t

Article history: Received 16 July 2014 Received in revised form 16 June 2015 Accepted 24 June 2015 Available online 27 June 2015

Women with sickle cell disease (SCD) now survive well into adulthood, thus knowledge about their reproductive decision-making is becoming increasingly important to both social and medical audiences. Through in-depth interviews with 28 adult women with SCD, I explored their motivations for asking their partners to undergo prospective genetic testing. The analysis revealed several sources of motivation including participants' concerns about the potential physical suffering of future children; potential feelings of guilt and stigma; determining whether to enter or remain in an intimate relationship; and finally, their mother's lack of insisting on their father's undergo testing. These findings offer insight into the pre-conception reproductive decision-making behavior of women with SCD. © 2015 Elsevier Ltd. All rights reserved.

Keywords: United States of America Reproductive decision-making Women's health Sickle cell disease Genetic testing

1. Introduction Sickle cell disease (SCD) is an autosomal recessive inherited blood disorder. In the United States it is the single most common blood disorder among African Americans causing the disease to be viewed through a racialized lens (Hassell, 2010; Nash and Telfair, 1994). Unpredictable episodes of severe pain is the chief manifestation of SCD and is exacerbated by minor infections, stress, fatigue, high altitudes, and abrupt weather changes (Ballas, 2002; Danielson, 2002; Yale et al., 2000). Despite medical advancements, the condition continues to be debilitating and lifethreatening (Brawley et al., 2008; Platt et al., 1994). Opioids are one of the primary treatments for SCD pain. Unfortunately, this method of treatment provokes providers' suspicion of illegitimate claims of pain and drug-seeking behavior among SCD patients (Geller and O'Connor, 2008). Life expectancy among this population has improved dramatically due to early diagnosis, improvements in comprehensive treatment, and the use of antibiotics (Barakat et al., 2009; Driscoll, 2007). Nearly four decades ago the life expectancy of individuals

* This work was supported by the Sociologist for Women in Society Chow-Green Women of Color Dissertation Scholarship as well as the Blue Cross and Blue Shield of Michigan Dissertation Award. I would like to thank Dr. Arno Kumagai, MD for his valuable comments on earlier versions of this paper. E-mail address: [email protected].

http://dx.doi.org/10.1016/j.socscimed.2015.06.029 0277-9536/© 2015 Elsevier Ltd. All rights reserved.

with SCD was 14 years old; yet today many survive well into their reproductive years (Lanzkron et al., 2013). The increased life expectancy, well into reproductive age, calls new attention to issues of reproductive decision-making. The offspring of individuals with SCD are born with either SCD or sickle cell trait (SCT), depending on their reproductive partner's genetic characteristics. If their reproductive partner has SCT, the child will have a 50% probability of having SCT or SCD, and a 100% probability of having SCD if their partner has SCD (Platt and Sacerdote, 2006). When individuals with SCD reproduce with someone with normal hemoglobin (neither SCT nor SCD) all children will have SCT. This information is particularly useful in reproductive decision-making as those with SCT are healthy carriers of the sickle cell gene and tend to be asymptomatic and live fairly normal lives (Platt and Sacerdote, 2006). Due to the inherited pattern of SCD, reproductive decision-making extends beyond whether to, or when and how to become a parent, but also includes decisions that will determine their offspring's genetic characteristics (D.A. Driscoll et al., 2004). As the carriers and bearers of children, women often bear the burden of genetic responsibility in matters of reproduction. Particularly, because conception and gestation are internal processes unique to the female body, women are considered the carriers of heredity, good or bad, placing more of the reproductive responsibility on the mother (Ettorre, 1999). Women also bear this burden because the decision to conceive, abort, or bear a child in

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light of knowledge of genetic risk rests with the mother (Caplan, 1989; Ettorre, 2000; Novas and Rose, 2000). Since the expectant mother will physically live out any of these decisions through her body, the burden of choice disproportionally rests with women. In this way, it is the mother who bears the biosocial responsibility for the fetus' genetic risk (Novas and Rose, 2000). Reproductive decisions for individuals with genetic conditions are shaped by complex physical, medical, and social factors (Wainwright, 2008). Biomedical standards directs attention toward matters of disease prevention, while social mores considers the morality of the decision to have children in light of genetic predispositions to disease (Davis, 1997; Green, 1996; Purdy, 1995). These medical and social standards foster individual feelings of responsibility to avoid exposing themselves and others to health risks (Kenen, 1994; Lupton, 1995; Steinberg, 1996). Genetic responsibility generally consists of three dimensions (1) to know about the self for self, (2) to know about the self for others, and (3) to know about the self to oblige others to know (Etchegary et al., 2009). Genetic responsibility is an integral factor in influencing an individuals' desire whether to know and to act on the knowledge of their genetic risk, obligation of disclosure, reproductive decisionmaking, and genetic testing decisions (Arribas-Ayllon et al., 2008). Genetic testing offers the ability to detect abnormalities at different stages of pregnancy. Both prenatal and newborn testing allow for early detection of fetus abnormalities and improves the prospects of adequate care (Atkin et al., 1998; Kaye, 2006). While prenatal testing is fairly standard within the context of prenatal care, some women decline these procedures due to concerns of miscarriage and the potential emotional distress of an unfavorable diagnosis (Asgharian et al., 2003). Genetic detection methods used posteconception, while effective, are limited to retrospective information after conception or birth. Genetic carrier testing is available prospectively to identify a particular genotype and allows individuals the ability to discover information about their disease susceptibilities and occurs before, during or after pregnancy (Natowicz and Alper, 1991). Due to the genetic and health risks associated with pregnancy among women with illness, prenatal testing is generally offered to provide in utero information about the health of their fetus. Research has found that a personal experience with illness, knowledge or experiences with raising a child with a disability, and already having an affected child as motivating factors for women who undergo prenatal testing (Etchegary et al., 2008; Petrou et al., 1992). Some women view prenatal diagnosis as a method to help prepare them for having a disabled child, detect birth defects and provide important information about reproductive options (Chen and Schiffman, 2000; Gallo et al., 2010). Women with SCT have reported their reasons for not discovering their partner's genetic status fell into two categories: the awkwardness and sensitivity of asking their partner to get tested and a lack of awareness of the availability and importance of testing (Asgharian et al., 2003). That is, discussions about SCT was not considered part of their normal conversation and was regarded as potentially causing problems within the relationship (Asgharian et al., 2003). Moreover, women with SCT have reported finding it easier to assume the risk of giving birth to an affected child than to initiate pre-conception discussions about their partners' carrier status and expose themselves to rejection or loss of opportunity to have children (Hill, 1994). Reproductive planning for women with SCD is a critical gap in the literature. The reproductive health of this population has been limited to biomedical examinations of pregnancy complications, maternal and infant mortality rates, appropriate contraception methods, and prenatal genetic testing (Creary et al., 2007; Dauphin-McKenzie et al., 2006; Hassell, 2005). To date, limited

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research exists exploring the experiences of women with SCD, and even less on understanding how women with SCD give thought and meaning to their reproductive decisions. The aim of this study was to explore the motivations of women with SCD for identifying their partners' sickle cell status e either trait or disease e via genetic testing. 2. Theoretical framework I used embodied risk as the theoretical framework for this study. Embodied risk is distinguished from other dominant forms of risk e lifestyle or environmental hazards e in that it is located within the body (Gabe, 1995; Lupton, 1995). With embodied risk, one's body imposes an internal threat and has the potential to define who a person is as opposed to what they do or what is done to them (Kavanagh and Broom, 1998). People with embodied risk must resolve pragmatic problems with intention and purpose amid the uncertainty of health outcomes and the statistical probability of risk discourse (Koenig and Stockdale, 2000; Waskul and Vannini, 2006). As a phenomenological approach, embodied risk helps us understand how individuals understand risk information and create meaning about their risk. Risk and the body are important concepts in understanding reproductive health. Having SCD may cause individuals to perceive themselves as having an embodied risk during times of reproduction. In this study, embodied risk emerges through the risk of genetic transmission to further offspring. The knowledge of the ability to transmit a genetic condition may also cause the person to perceive their body as dangerous (Polzer et al., 2002). Women with SCD experience numerous r pregnancy and delivery-related risk factors including higher risks of fetal death, preterm births, low weight births, cesarean delivery and labor induction (Barfield et al., 2010). Through warnings about pregnancy and childbirth, risk is established before pregnancy occurs and is reiterated during the initial prenatal visit and continues throughout the pregnancy. Therefore, concerns of genetic transmission intersect with pre-existing notions of reproductive risks. Using embodied risk, this study explored how women with SCD manage their perceived risk and the ways in which this information influenced their requests for their partners to undergo prospective genetic testing. 3. Methods 3.1. Participants The final sample consisted of 28 women, ages 18e52, (mean age 30.39). The sample represents women of varying ages, reproductive statuses and socioeconomic positions (See Table 1). 3.2. Recruitment The Wayne State University (WSU) Human Subjects Review Committee approved this project before implementation. I recruited participants from: (1) a sickle cell clinic based in an academic medical center, (2) a local chapter of a national sickle cell organization, and (3) a social support and educational website with over 3,000 members. I also used my social network to recruit women with SCD not currently under the care of a physician or currently seeking support. The clinic and organization director mailed my recruitment flyer and introductory letter, along with their cover letter to eligible participants and posted the flyer in their retrospective areas. The inclusion criteria were selfidentification as African American, a medical diagnosis of SCD, female, and over the age of 18.

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P.T. Ross / Social Science & Medicine 139 (2015) 36e43 Table 1 Partners' and participants' uptake of genetic testing. Asked partners to get tested

Did not ask partners to get tested

N ¼ 22

N¼6

Age (mean age 30.39) 18e19 1 20e29 7 30e39 10 40 and over 4 Income Less than $25,000 15 Between $25,000 and $49,999 3 Between $50,000 and $74,999 1 $75,000 and over 3 Supplemental security income (SSI) Yes 15 No 7 Marital status Single, never married 14 Single, divorced 1 Living with partner 2 Married 5 Level of education High school student 2 High school graduate or equivalent 3 Some college 13 College graduate 4 Employment status Full time student 3 Unemployed 10 Employed part-time 7 Employed full-time 2 Number of pain crises requiring hospitalization during last 12 months None 5 1e5 12 6e10 4 11e15 0 16e20 1 21 or more 0 Reproductive history Never pregnant 5 Pregnant-miscarriage or abortion 4 Pregnant-births 13 Number of children (N ¼ 13) None 9 1 3 2 5 3 4 4 1

3.3. Data collection and analysis I conducted in-depth interviews with adult African American women with SCD during November 2011 through May 2012. Interviews occurred in participants' homes, public libraries, and a local coffee shop. Before beginning the interview, women gave their informed consent for the interview and audio-recording. I gave all women an information sheet detailing the study as well as confidentiality guidelines and contact information for the study. I asked open-ended interview questions with follow-up probes to encourage elaboration and ensure my full understanding of their experiences. I asked questions related to their past and present reproductive experiences, as well as sources of knowledge of sexual health. For example, I asked, “In what ways do you think having sickle cell influences your intimate relationships, having boyfriends, etc.? What kinds of conversations have you had about genetic testing?” Would you feel comfortable asking your partner to get tested?” My position as a woman who does not have SCD possibly enhanced my ability to collect think, rich data as participants often felt compelled to thoroughly educate me regarding SCD and their

1 5 0 0 4 1 0 0 4 2 6 0 0 0 1 0 5 0 4 2 0 0 1 2 1 0 1 1 6 0 0 6 0 0 0 0

illness experience. Understanding the different types of SCD and genetic transmission patterns is a complicated process, and I always remembered that participants were the real experts in this study (Collins, 2000). A professional transcriptionist transcribed each interview, and I carefully reviewed the transcript alongside the audio-file to confirm accuracy. I analyzed the transcripts using Colaizzi's phenomenological method (Colaizzi, 1978). This is a descriptive phenomenology approach which uses thick description and close analysis of the lived experiences to understand how individuals create meaning through embodied perception. After the initial reading of the transcripts for accuracy and significant statements, I then returned to the transcripts and extracted research related phrases that pertained to how participants thought about having biological children, particularly the experiences of pregnancy and childbirth. I then generated an initial list of concepts and themes by reading the data and creating as many relevant codes as possible. I placed all the transcripts into a qualitative software program, NVIVO©, to help manage the data. I analyzed the data further within each code organized by participant on the topics of reproductive decision-making, genetic testing, and disclosure. This allowed me

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to describe participant's experiences exhaustively. Within two months of completing the initial interview, I had conducted seven interviews. There was a lapse in recruitment, which gave me time analyze and reflect on the data I had collected to date and I believe improved the quality of the remaining 21 interviews. During the last four interviews, I felt theoretical saturation of the emergent themes had been reached and concluded pursing additional interviews. 4. Results 4.1. Findings Nearly all of the women in the study (N ¼ 22/79%) asked their partners to undergo genetic testing (See Table 1). The implications of reproducing with a partner with SCT strongly influenced participants' desires to ask their partners to undergo testing. Participants' motivations for asking their partners to get tested including their concerns about the physical suffering of future children; potential feelings of guilt; determining whether to enter into or remain in an intimate relationship; and finally their mother's lack of insisting that their father's undergo testing. 4.2. I Don't want my children to suffer like me Many participants described asking their partners to undergo testing because of their lived experience with SCD, particularly physical pain, witnessing the guilt their parents felt and stigma from health care providers. Through these experiences, they developed a commitment to discovering their partners' sickle cell status prior to conception. Participants particularly highlighted that having experienced the symptoms of SCD provided a unique perspective and sense of urgency for “not passing it on” or not wanting their children to “suffer like me” and “go through what I went through.” Faith desired to have a child free from a life of chronic pain and described her experience with SCD as “hard as ever”. I just asked him [boyfriend] if he had SCT because I got it and I don't want no kids with it. I wouldn't want them to go through that. Just having pain like I have, constantly, every day. That's harsh right there. A child shouldn't go through that. [PR: You went through it and you're surviving.] Yeah, I have it, but it's not like I had a choice. If I had a choice, I wouldn't want to go through it. [PR: How did testing come up?] I just asked [boyfriend] if he had the trait because I want kids later on and he said he didn't have it and I told him the next time you go to the doctor to make sure and he did and he doesn't have it. Faith resolved that pain was a part of her everyday life however, she desired to make a different choice for her children. Like other women with genetic conditions, women in this study understood that while they were unable to control their own genetic occurrence, they could control whether or not their child would inherit the condition. Since SCD can be a debilitating illness, participants exercised their ability to control the genetic fate of their future offspring through asking their partners to undergo testing. Although pain is the hallmark of the SCD illness experience, participants described two other forms of suffering that motivated them to ask their partners to undergo genetic testing: feelings of guilt and illness related stigma. Zora's illness experience was extensive. During her lifetime, she had experienced numerous sickle cell-related health problems including a coma, brain damage, temporary memory loss, and nine grand mal seizures.

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I made sure Dr. [hematologist] met him [husband] and she got him tested when we got engaged. She took his blood and he didn't have the trait. It was important that my husband was tested because I wouldn't want to see a child go through a lot of the suffering that I went through. You see, a lot of the suffering is not just physical, it's emotional, and it's spiritual because I had times I wanted to just give up. If [her husband] would have had the trait, I would not have had a child by him and both of us had already discussed that actually. My mother and my father didn't even know they had the trait and when they found out I had the disease it really hurt them. The guilt that they feel … I asked my mother why she felt so guilty about finding out that I had it e she said, “Well, because I felt bad that I gave that to you,” and I said, “Why did you feel bad?” She said, “I felt like you had this … .you were hurting because I did this to you. I didn't want to do that to you. When you have babies, you want them to be healthy and I was supposed to protect you.” Zora explored the genetic characteristics of her reproductive partner before conception to avoid the guilt of transmitting SCD to her children. Zora's parents were by her side during every health event and she witnessed the guilt they felt for causing her suffering. Many participants indicated they too would feel guilty if they transmitted SCD to their children. Parental guilt is a common response to a child's diagnosis with disease. For the most part, it implies the parents' feeling they possessed some level of control over the situation and its occurrence (Kessler et al., 1984; Nixon and Singer, 1993). Knowing this, participants often contemplated complex reproductive decisions whether to risk bearing a child with SCD and sharing the guilt of their parents or not giving birth to a child at all and foregoing the experience of biological parenthood. Alongside the physical suffering and feelings of guilt, many participants described suffering from the stigma associated with SCD. In the United States, SCD is most commonly associated with African Americans, a fact several participants believed impacted the quality of the health care they received. Social perceptions of people with SCD fueled Aja's conversation with her boyfriend about genetic testing. I said, “I just want to let you know that if we were to ever have children that you would have to get tested first because we want to make sure that we aren't going to pass this disease on to our children.” “I won't have that.” When you look into the future, you don't want to pass this disease on. I feel like people don't realize how bad it is. Talking about it can only tell you how bad it is, but until you live [with] it … I would never want my child to live [with] this disease and to live the life that I have lived. I know times are changing, but they're not changing fast enough. I have been stereotyped. I have been looked at as a drug-seeking fool. I have sat in pain for hours waiting for treatment. If anything, I would adopt before I gave this [SCD] to a child. [PR: Why do you think you're stereotyped?] It's hard to say because sickle cell affects predominately Black people and it's predominately seen in Black people in the United States. So, it's hard to separate the two [being Black and having SCD]. Similar to Zora, Aja's openness to reproduce with her current partner depended on his negative genetic test result. Several participants echoed Aja's sentiments and indicated their motivation for asking their partners to undergo testing was to protect their children from the social judgments, stereotyping, and poor medical treatment they associated with having this condition. For Aja, living with this disease forced her experience questionable care and suspicion from health care providers.

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Asking partners to be tested was a form of reproductive agency participants used to prevent their children from the SCD illness experience as an all-encompassing, physical, emotional, and sometimes stereotype-inducing condition. 4.3. I Don't date men with sickle cell Most participants viewed asking their partners to undergo genetic testing as part of their process for establishing intimate relationships. Further, that testing was most effective when performed either before intimacy or before conception. Pearl, was adamant that her partners get tested before intimacy to ensure, even in the event of an unintentional pregnancy, her child would not have SCD. Back in ‘74 and ’73, they [her parents] knew nothing of testing for the trait. Me and my dudes take two tests. We take the AIDS test when we're first getting to know each other and then as it's progressing you take another one before you get next to me and you also take a sickle cell test too. So in case something happens and I'm going to have kids or anything like that I didn't want the babies to be born with sickle cell. I'm real careful about that. I don't think we have the luxury of an “oops” because an oops is what caused me the trauma that I have. Pearl's decision whether to establish an intimate relationship relied on her ability to identify a partner who did not have SCD or an SCT. Pearl considered herself as different from other sexually active women. Unlike other women, her relationships decisions carried long-term health consequences for her future children. Like Pearl, Sophia also asked her partner to undergo testing and ended her relationship upon discovering her partner's SCT carrier status. When we first met I took him [boyfriend] to the detection center. I'm like, “Come on, I got to volunteer at the Sickle Cell Center anyway, you can get tested.” His [test] came out that he had the trait. We both looked at each other, and he's like, “Wow,” and I'm like, “Oh, no.” The reason why I was saying “Oh, no” is if he has the trait and I have the disease, that brings a higher percentage of the probability of the child having it. That was my fear and I had to break it off. He didn't understand that. Sophia frequently explained genetic transmission patterns to others using biomedical language as a rational and universal way of preventing unwanted outcomes. As the person in her relationship with the knowledge of SCD, she assumed the responsibility to prevent its transmission. Many participants intentionally avoided establishing relationships with a partner with either SCT or SCD based on their knowledge of genetic transmission patterns. Indeed, for those unfamiliar with SCD and genetic testing, knowing how and where to get tested may be a barrier. In Sophia's case she not only asked her partner to get tested, but also took him to the facility. In addition to determining whether to continue a relationship, participants used genetic testing to guide their future reproductive behavior. With a clear understanding of her genetic characteristics as well as the impact of reproducing with a partner with an unknown status, Gabrielle asked her partner to undergo testing. I had to get him [her husband] tested because of course, I would not mate with anyone that had the trait. Two bad genes is only going to give a bad gene. I can't give off a good one because I only have two bad. [PR: How did you know to ask him about it?] Because my family told me, “Don't have a boyfriend with the SCT or disease.” So I knew that much. Because I knew my mother and

father both had the trait and that's how I ended up with the disease. You have to find out their medical history … you have to find out if they have sickle cell.” I knew I was going to have kids. Nobody said I couldn't have kids, they just said that I couldn't have kids with someone else who had sickle cell. So I had to have him tested. The information obtained from genetic testing offered participants the opportunity to learn about their potential partners. Through her family's explanation of the genetic transmission process, Gabrielle based her ability to have biological children on making sure her partner did not have either SCT or SCD. Gabrielle, along with other women in the study, received repeated instruction throughout their lives not to reproduce with men with SCT or SCD. According to participants, health care providers and family members presented this information as an explicit road map for having children free of SCD. As noted above, establishing intimate relationships presents great complexity for women with SCD and involves having direct conversations with potential partners. As one participant stated, “I have actually had guys with sickle cell try to talk to me and I'm looking at them like, “You do realize that there is no way possible for us to be in a relationship past a friendship?” Participants' intentional avoidance of partners without SCT or SCD demonstrates their sense of responsibility to their future children and the ways in which mothering begins even before conception. 4.4. My mom didn't make daddy get tested Women in this study indicated they were motivated to ask their partners to undergo genetic testing because their mothers failed to confirm their father's SCT status before conception. Participants took special notice of the risk their mothers' assumed in having children and were unwilling to repeat that risk with their own children. Joyce readily acknowledged that having SCD was the result of her mother not knowing her father's sickle cell status and was determined not to follow in her mother's footsteps. My mother knew she had the trait and she asked my father, he didn't know he had the trait … then I came out with SCD. I'm not having a child with sickle cell anemia. So if you want to have sex with me there are things that you are going to have to do. Both people that I have had sexual relationships with have been tested because I don't go into that situation not knowing like my mother. I'm not like females who say, “Oh, he didn't want to wear a condom because it was uncomfortable.” I say, “Oh well, then you don't really want to have sex with me.” That's the same way that I feel about getting [my partners] tested. My mother went on “He said,” which I don't blame her for because back then it really wasn't as much knowledge. I'm adamant about why bring a child into the world who is going to have health problems? I'm not just talking about a cold. I'm talking about strokes and serious things. It's preventable. Knowing that her mother did not confirm her father's SCT status made Joyce unwilling to blindly trust her sexual partners' report and caused her to be committed to asking them to get tested before sexual intercourse. She made clear connections between genetic testing and condom use in describing responsible sexual behavior as a woman with SCD. Joyce did not believe her parents behaved irresponsibly; rather, she attributed her father's lack of testing to the scarcity of information that would have aided her parent's decision-making at that time. In their attempts to understand their

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parents' testing inaction, many participants referenced a lack of technology, awareness, or knowledge about sickle cell screenings during their parents' generation. When their mothers did not insist on testing, participants' diagnosis with SCD was at times the first indication of their fathers' SCT status. In many instances, participants considered the timing of their father's diagnosis “too late”. Jada's motivation for confirming her partner's sickle cell status was her understanding of how she came to have SCD. My mom knew she had the trait, but my dad didn't know anything until I was born. Then it was too late. I tell my mom and dad this all the time like, “You guys were just reckless. Nobody knew nothing?” So I made sure my boyfriend got tested. To me it's an easy cure to this … get your partner checked beforehand. That's just the easiest way to me to stop sickle cell. Because in my mind that's just disastrous and reckless. Because you don't bring a child in the world [to] have to deal with the same thing you're going through already. That makes no sense to at all. It's perfectly fine with me if they have the trait. Now that leaves it up to me to educate them, “Don't go and be stupid and have sex with somebody that has the trait or sickle cell and risk getting pregnant, or getting someone pregnant, and now you're carrying a baby with SCD.” Like other participants, Jada viewed her ability to prevent the transmission of SCD as two simple steps: first obtaining the trait status of her prospective partner and secondly deciding not to reproduce with a man with SCD or SCT. Jada's fathers' SCT status was not confirmed prior to conception, yet unlike Joyce, she vehemently considered her parents behavior as irresponsible. Moral judgment and blame often occur when a medical condition is contracted, but still contracted (Bayer, 2008; Deacon, 2006; Scambler, 2009; Vickers, 2000). Jada's feelings of blame is supported by other research that has found mothers of children with SCD felt blamed for knowingly conceiving and bearing a child who suffers physically (Burnes et al., 2008; Hill, 1994; Jenerette and Brewer, 2010). In anticipation that her children would have SCT, Jada was prepared to educate them about the importance of inquiring about their reproductive partner's status. For Jada, the importance of partner testing derived from a game developed by her hematologist, who compared not having partners tested to a roll of the dice. Dr. [hematologist] made up this game with cubes with the different types of sickle cell on them and told the kids, “Go ahead take a pair of dice and roll them and see what you get.” The majority of them got a baby with SCD because they didn't have their partner tested. That was very important to me. For Jada, this message was necessary patient education for individuals with SCD to avoid having a child with the condition. Therefore, she internalized this message as a road map for selecting her reproductive partners. Despite her mother's inquiry, Nia's father's SCT status remained unconfirmed until her mother was five months pregnant. I was so proactive about it [partner testing] because my father told my mom that he didn't have it. She found out [my father had SCT] when she was five months [pregnant] with me that he did have it. That's why I was so proactive about [my boyfriend] getting tested. That was more secure for me to know considering that she believed what he said, but he had the trait. Some people don't know until it's too late and you can't do nothing about it at that point. That's why I think it's so important for me.

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I said, “I would like for you to go get tested just to see if you have a trait.” I had to explain to him why and since I have the full blown anemia, of course the kids are going to have the trait. He did get tested [and] it came back that he didn't have anything. Nia made it clear that she was being proactive by asking her boyfriend to get tested, before it was “too late.” Even when partners reported they did not have SCT, many participants insisted that getting them tested was the only reliable way to ensure they did not repeat the pattern, and result, of their parents. Knowledge of their family's genetic history caused participants to be particularly vigilant of the impact of requesting testing would have on future generations. Blaming their mothers' for not confirming their father's status suggests women have a responsibility, more so than men for their children's genetic characteristics. Interestingly, some participants indicated that neither of their parents knew they were carriers of SCT before conception. However, in this scenario participants did not express the same motivation for asking their partners to be tested. Entering all intimate relationships and opportunities for conception, participants were mindful of their embodied experience with the disease, as well as their parents' decision-making. Because individuals with SCT are generally asymptomatic, women in this study frequently made a clear preference for their children having SCT instead of SCD e referring to SCT as “just trait” rather than the “full blown” disease. Undeniably, at the heart of all motivations was participant's desire to avoid having a child with SCD. Conversely, a few participants felt grateful for having the “chance” at lifeeeven with sickle cell disease. These participants were unwilling to allow the possibility of having a child with SCD to limit their romantic and reproductive lives to partners without SCD or SCT. 5. Discussion Women in this study asked their partners to undergo prospective genetic testing as an information gathering strategy for relationship and reproduction decision-making. Their desire to protect their future children from the social, physical and emotional strain of SCD motivated them to ask their partners to undergo testing. The meaning women gave to having a child with SCD and the knowledge of how they came to have it themselves caused them to be diligent in preventing passing SCD along to their children. In some cases, participants possessed multiple motivating factors, thus these categories are not mutually exclusive. Their experiences provide an example of how women develop a social, not just biological, relationship with their children even prior to childbirth (Rothman, 1998). With this sample, more participants whose partners agreed to undergo testing were married or in long-term relationships, which may indicate both the intimate nature of a testing request and how important this testing is for relationships. Participants who reported more severe symptoms of SCD (e.g., pain crises, strokes, seizures) were also more likely to have asked their partners to undergo genetic testing, which suggests the experience of more severe and frequent disease symptoms as a strong motivator for women asking their partners to get tested. Participants who asked their partners to undergo testing were older, had more education, and were mothers, which is an indication of the maturity level and ability to comprehend the complexity of genetic transmission patterns. Based on these data, relationship context, age, level of education and personal experiences with motherhood impacts women's motivations to request partner genetic testing. Ultimately, participants considered the transmission of SCD as a controllable

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occurrence and exhibited strong orientations toward an internal locus of control, the degree to which people perceive that the outcomes of the situations they experience are under their control, by asking their partners to undergo testing (Rotter, 1966). These findings provide another example of the ways in which the embodied experience and embodied knowledge work to influence reproductive decisions. In this study, women with more embodied knowledge of SCD e as determined by their report of frequency of pain crises as well as their knowledge of genetic transmission patterns were more likely to ask their partners to undergo testing. Participants' embodied experiences were a catalyst for the detection of their partners' sickle cell status. Thinking about the risk of genetic transmission is very much a part of living with SCD and reproduction. Women in this study were forced to consider what was more important e the stability of their intimate relationship and respect for partners' wishes, the desire to have biological children, or the need to prevent having children with SCD. Participants expressed this self-imposed genetic responsibility for not giving birth to a child with a serious illness, through limiting their partners to men without SCD or SCT. This also meant the responsibility of disclosing their SCD status to potential partners. While plenty of literature exists on prenatal testing and subsequent decision-making these findings extend our knowledge on why women pursue obtaining genetic information on sexual and reproductive partners. Similar to what others have found, women in this study placed a high value on motherhood and their ability to have children (Acharya et al., 2009; Asgharian et al., 2003; Hill, 1994). Previous research suggests that women believe asking their partners to undergo testing might provoke problems within the relationship and it was viewed as “dangerous ground” (Asgharian et al., 2003). However, unlike others women in this study did not express any difficulty discussing or disclosing their status or the implications of carrier status with their partners. Furthermore, women in this study did not prioritize relationships over the risk of transmitting SCD to their children. Many participants strongly considered what was more important e the stability of their intimate relationship and respect for partners' wishes, the desire to have biological children, or the need to prevent having children with SCD. Unlike women with SCT, women with SCD are physically unable to ignore their condition, because they frequently experience symptoms. Thus instead of being influenced by the instruction of others, participants were influenced by their embodied knowledge to avoid having a child with SCD. In the era of ‘new fatherhood’, men have become more engaged in prenatal screening through their attendance and emotional support (Locock and Alexander, 2006; Reed, 2009). The literature shows that men desire to be involved in prenatal screening because they feel a responsibility for their unborn children (Dheesna et al., 2013). This study highlights how extending men's involvement into pre-conception activities, especially with partners with a genetic condition, can provide pertinent information at an earlier stage of reproduction. At the prenatal stage, male partners generally occupy one of the following roles: “bystander” of their partners' prenatal care, the more traditional male role of “supporter”, “info-gather” about screening, and “enforcer” that decisions are implemented (Locock and Alexander, 2006). However, when males undergo preconception genetic carrier testing, their role includes that of shared decision-maker allowing them to become even more involved in the reproduction process. Self-selection bias may limit these results. Those who are talkative, critical or have a desire to share a particular life experience are more likely to volunteer than those who are private, quiet, or accepting of that experience (Rossi and Freeman, 1989). Another limitation is that, as mentioned above, health status is not static and influences perceptions and experiences, which change at

different stages of life. Three women in the study indicated that partners refused to undergo genetic testing when asked. These narratives show that regardless of the woman's wishes, genetic testing of reproductive and sexual partners is constrained by their willingness partner to do so. This study is also limited because the findings only captured participants' perceptions of reproductive intentions at one time point rather than over their life course. Having a better understanding about women's motivations to ask their partners to get tested provides genetic counselors, general practitioners, and obstetric and gynecologists with information that could be used in patient education programs and conversations about reproduction, and family planning. As patients with SCD transition from adolescence to adulthood providers should pay close attention to discussions about genetic carrier testing and information about offering locations as well as conversations about sexuality and availability of contraceptive options, and pregnancy intendedness. Through identifying a means for providing optimal, comprehensive reproductive care for women with physical disabilities by working with women to help facilitate partner testing. References Acharya, K., Lang, C.W., Ross, L.F., 2009. A pilot study to explore knowledge, attitudes, and beliefs about sickle cell trait and disease. J. Natl. Med. Assoc. 101 (11), 1163e1172. Arribas-Ayllon, M., Sarangi, S., Clarke, A., 2008. Managing self-responsibility through other-oriented blame: family accounts of genetic testing. Soc. Sci. Med. 66 (7), 1521e1532. Asgharian, A., Anie, K., Berger, M., 2003. Women with sickle cell trait: reproductive decision making. J. Reprod. Infant Psychol. 21 (1), 23e34. Atkin, K., Ahmad, W.I.U., Aninwu, E.N., 1998. Screening and counseling for sickle cell disorders and Thalassaemia: the experience of parents and health professionals. Soc. Sci. Med. 47 (11), 1639e1651. Ballas, S.K., 2002. Sickle cell anemia. Progress in pathogenesis and treatment. Drugs 62 (8), 1143e1172. Barakat, L.P., Nicolaou, C., O'Hara, E.A., Allen, S.L., 2009. Sickle cell disease. In: O'Donohue, W.T., Woodward, L.T. (Eds.), Behavioral Approaches to Chronic Disease in Adolescence. Springer, New York, pp. 253e267. Barfield, W.D., Barradas, D.T., Manning, S.E., Kotelchuck, M., Shapiro-Mendoza, C.K., 2010. Sickle cell disease and pregnancy outcomes. Women of African descent. Am. J. Prev. Med. 38 (4S), S542eS549. Bayer, R., 2008. Stigma and ethics of public health: not can we but should we. Soc. Sci. Med. 67 (3), 463e472. Brawley, O.W., Cornelius, L.J., Edwards, L.R., Gamble, V.N., Green, B.L., Inturrisi, C., James, A.H., Laraque, D., Mendez, M., Montoya, C.J., Pollack, B.H., Robinson, L., Scholnik, A.P., Schori, M., 2008. National Institutes of Health concensus development conference statement: hydroxyurea treatment for sickle cell disease. Ann. Intern. Med. 148 (12), 932e938. Burnes, D.P.R., Antle, B.J., Williams, C.C., Cook, L., 2008. Mothers raising children with sickle cell disease at the intersection of race, gender, and illness stigma. Health Soc. Work 33 (3), 211e220. Caplan, P., 1989. Don't Blame Mother: Mending the Mother-daughter Relationship. Harper & Row Publishers, New York, NY. Chen, E.A., Schiffman, J.F., 2000. Attitudes toward genetic counseling and prenatal diagnosis among a group of individuals with physical disabilities. J. Genet. Couns. 9 (2), 137e152. Colaizzi, P.F., 1978. Psychological research as the phenomenologist views it. In: Valle, R.S., King, M. (Eds.), Existential-phenomenological Alternatives for Psychology. Oxford University Press, New York, pp. 48e71. Collins, P.H., 2000. Black Feminist Thought: Knowledge, Consciousness, and the Politics of Empowerment. Routledge, New York. Creary, M., Williamson, D., Kulkarni, R., 2007. Sickle cell disease: current activities, public health implications, and future directions. J. Women's Health 16 (5), 575e582. Danielson, C.F.M., 2002. The role of red blood cell exchange transfusion in the treatment and prevention of complications of sickle cell disease. Ther. Apher. 6 (1), 24e31. Dauphin-McKenzie, N., Gilles, J.M., Jacques, E., Harrington, T., 2006. Sickle cell anemia in the female patient. Obstetrical Gynecol. Surv. 61 (5), 343e352. Davis, D.S., 1997. Genetic dilemmas and the child's right to an open future. Hastings Cent. Rep. 27 (2), 7e15. Deacon, H., 2006. Towards a sustainable theory of health-related stigma: lessons from the HIV/AIDS literature. J. Commun. Appl. Soc. Psychol. 16 (6), 418e425. Dheesna, S., Metcalfe, A., Williams, R.A., 2013. Men's expediences of antenatal screening: a metasynthesis of the qualitative research. Int. J. Nurs. Stud. 50 (1), 121e133. Driscoll, D.A., Sehdev, H.M., Marchiano, D.A., 2004. Prenatal carrier screening for genetic conditions. Neo Rev. 5 (7), e290ee295.

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