Becoming a Rare Disease Parent: An Interpretative Phenomenological Analysis of Parent-Caregivers’ Postpartum Experiences

Parental Intuition

Several parents made reference to ways of “sensing” and “intuiting” things about their children within the early stages of postpartum. Based on a parent’s subjective understanding of their child, this lay appraisal was distinguished from medical and clinical assessments of a child. However, as aptly described by one parent, intuition was fundamentally in conversation with such assessments as it sometimes provided the initial signal to parents that something was wrong with their child:

… [W]e went home on a Friday, so the health unit … said they’d come on Monday to help with the breastfeeding, and latching, and all that, and said to do—it would be fine until then. But my gut said that something wasn’t right, and I honestly didn’t know where to take her. (Mother, Methylmalonic Acidemia, 12 years old)

Here, both this mother’s and father’s “gut” instincts that “something wasn’t right” is powerful enough to challenge clinical reassurance. Even though this mother felt uncertain of how to act, the process of sensing that something may be wrong with her baby was one way of gathering early data to rebut medical assertions and seek answers to support her child. For this father of an undiagnosed child with medical complexity, comparing his child against his other children and their development signaled that something was amiss and required further attention.

This quote also captures another aspect brought up by several parents: the discordance between a gut instinct and having the tools and resources in this early time to know how to respond to such an instinct. Below, a mother to a daughter with Cobalamin C deficiency shares a similar tension between intuition and despair in the early days of her daughter’s life:

I felt like, as a mother ... when you know something—I just felt like something is going on, like something’s wrong, I don’t get it. And when they finally told me that, you know [child had condition], I was just like, “My goodness, like, why couldn’t it, why couldn’t I just,” I felt like It was kind of like my fault. Just, everything, overall. I felt like I could have maybe, I don’t know, eat better or checked up, get checked up more often or something. Or just would’ve noticed her throwing up, you know, that few, first few days or whatever, I should’ve just took her to the hospital—I feel I should’ve did more, as a mom, I should’ve just did more ... (Mother, Cobalamin C deficiency, 3 years old)

Like other parents, she describes a sense of “something … going on” that, after receiving a diagnosis and thus an answer for her daughter’s symptoms, prompts a sense of guilt for being unable to draw connections between her own “data” on her daughter and the clinical insights. In this sense, intuition was understood both as an expanding and a limiting tool for the parents in our sample in regard to their dual parent-caregiving identities.

Micro-Encounters in the Clinic

Each participant described the profound personal impact of early communication about their child’s condition or health status. These encounters took various forms with our participants, including newborn screening follow-up encounters, acute neonatal intensive care admissions, and protracted medical follow-up in the first few months of life after leaving the hospital.

Many participants referenced specific conversations or exchanges—which we deemed “micro-encounters”—with clinicians that often reverberated well past their child’s hospital stay and clinical follow-up. Such encounters stayed with parents particularly when or if grim prospects were offered and operated as signals to parents that their child was not okay. One mother, whose daughter was diagnosed with Methylmalonic Acidemia in infancy, highlights this concept in describing her daughter’s admission to the critical care unit:

An event that’s always stood out is when she was admitted to the … pediatric critical care unit—and a nurse told me to go home and get my camera so that I could get one last picture of my daughter. I’ll never forget that nurse, ever [...] [T]hat’s when I was like, “Oh, we might not make it.” I think maybe, that was the moment. And maybe that’s why I remember it so well, because it was like, it’s getting real, right? (Mother, Methylmalonic Acidemia, 12 years old)

For this mother, this single exchange operates as a fulcrum from which she arcs from territory of normalcy into that of having a sick child. These remarks, when held on to in hindsight, signal the start of divergence that will follow these parents, and their children, throughout their child’s lifetime.

Contending With Info-Glut

In most cases within our sample, a diagnosis might be shared with parents during these encounters. Even when a diagnosis wasn’t shared, parents often had to develop the expertise of navigating, integrating, and understanding the medical system and medical guidance within a short period of time. This deluge of information is necessary to contend with, as proper comprehension and understanding of their child’s condition, or alternately, the medical infrastructure, is vital to effectively make decisions regarding their child’s care. In the words of one parent, “… we had a whirlwind of information thrown at us” (mother, Methylmalonic Acidemia, 2 years old).

Such a steep learning curve in the early days, weeks, and months of their child’s life regarding medical information furthered parents’ realizations that parenting their child would be different than anticipated. However, it was also distressing. As illustrated by one parent, who adopted a son that was shortly thereafter diagnosed with Cobalamin C deficiency:

… We started trying to look up [condition] and—you know we were finding stuff that was outdated ... but I saw something—there was something that was 80 percent survival rate by age 2, which means 20 percent of those kids are dead. And I just was like, we just got him. That was the phrase I just kept thinking. We just got him. They can’t take him, we just got him ... Even though we found out, you know, very shortly after that that was not the expected lifespan at all. It just echoes. (Mother, Cobalamin C deficiency, 2 years old)

Uniting the deluge of medical information and the micro-encounters with clinicians is the reverberation of prognostic information through time. Such information, as illustrated in this account, has the potential to leave an impact on parents and their narrative of their child’s early life and expectations for their child.

In some cases, parents described medical teams who were sensitive to this information deluge, wherein providers attempted to curb the amount of initial information provided to them at an early onset. However, these approaches varied in their success and value to parents. As illustrated in this interviewee’s account:

… the first doctor on the phone, she didn’t want to tell us what she tested positive for. She said no, I’m not going to give you the name, otherwise you’re going to Google it. It’s my decision if I want to Google it. It’s my daughter’s health. So, we actually went first to the pediatrician and then to the geneticist ... without even knowing what she tested for. (Mother, Methylmalonic Acidemia with homocystinuria, 3 years old)

Although an admirable attempt by a provider to not overwhelm a new parent, this overly paternalistic approach highlights a core tension intersected with the info-glut: that parents may be overwhelmed by information yet yearn for control amidst a challenging medical process.

Loss of Freedom

For many, parenthood alters priorities and, notably, the availability of free time. Parents also described a loss of freedom and shifting daily priorities after the birth of their children. Sometimes these feelings were described in association with the normative process of caring for children and the transition to parenthood in general; as one parent remarked, “Having kids changes everything … I think, you know, you just don’t have as much freedom to go do what you used to” (mother, Propionic Acidemia, 2 years old). The concept of losing freedom was also a site of speculation for our participants: parents in our analysis actively grappled with whether their understanding of altered freedom was “normal,” or whether it was amplified due to the complexity of their child’s condition. In some cases, the changes to freedom felt highly distinct for our parents. Seen through one mother’s account of caring for her son:

We had an early childhood team evaluate and train us and I basically had to leave my job. And, you know, be a full-time mom …. My sister and my mom and everybody said you have to leave your job if you want [child] to be a normal kid. Because everything is delayed. His speech, his walking, his crawling, everything was impacted … (Mother, Methylmalonic Acidemia, 9 years old)

This mother’s remark illustrates how the loss or alteration of freedom to rare disease parent-caregivers is fundamentally entangled with other complex elements of caregiving. For this mother, the labor of addressing her son’s various disabilities usurped her ability to work outside the home. Alongside her own revelations of how her son’s abilities impact her own mobility is the social projections of family members. These family members’ ideas of parenting values are laid bare in their ideas of how normalcy can be enacted in the case of this child’s life.

Stepping Into the Advocacy Role

By necessity, many of the parents in our sample must find their own ways of effectively digesting medical information and come to terms with the realities of their child’s conditions. In retrospect, many of the parents in our sample describe early gestures toward the necessary role and responsibility of advocating for their child. This is in part distinguished by a sense of mastery over the logistical and medical demands of their child’s condition, as well as a sense of persistence related to getting their child the care and support they need. In effect, advocacy reflects a developing form of caregiver intuition that is often the result of engaging with the medical system under the unique circumstances of receiving care for their child and trying to seek answers:

So, going from prior to having my son, where we just, you know, whatever the doctor said was what it was. And then, just how we have changed as parents and moving to, question everything, and advocating, and not just taking an answer from a professional because they're a professional. (Mother, Methylmalonic Acidemia, 2 years old)

In this mother’s reflection, she clearly delineates between what her prior experiences were with medical providers—an attitude of “whatever the doctor said”—to a more critical perspective surrounding medical expertise and guidance. In contrast, other parents in our sample experienced advocacy as a collaboration between them and their child’s care team, often when they found a particular research team, individual pediatrician or other care provider, or hospital system where they felt confident that their child was getting high quality care. In both instances, the demands on parents exceeded “taking an answer from a professional,” instead requiring substantial time, effort, and engagement on the part of parents as an active member in their child’s care.

Communally Coping With Caregiving

Many participants described the process of the family unit communally adjusting to the caregiving experience. Such accounts involved the concept that a family may “come together” in various constellations to help the parents make sense of, or manage care for, their child’s diagnosis and altered life trajectory. This “coming together” took on many forms, including caregiving as a focus of the entire family unit, individuals stepping into new care roles and providing support, and instances of misguided help while navigating caregiving.

In several families, this communal care reflected physically showing up for parent-caregivers and the affected child. The familial support led to descriptions of communal adjustment, cohesion, and positive experiences as the family unit responded to the novelty of, and ultimately learned to manage their child’s illness in the early period of caregiving. Said one parent:

So, I think it’s good, I mean, the whole family grew up. Like, it made us stronger, you see. It’s not easy but, as I said, it’s a very big mixture of feelings. (Mother, Propionic Acidemia, 21 years old)

Family members were described as often providing instrumental and logistical support in order to ease the cognitive burden on families. In one participant’s account, the stress of caring for her twins with Propionic Acidemia brought her mother and another relative to her side to provide necessary relief:

I remember getting to the point where I called my mom and, I just kind of started talking, and then I lost it, and she immediately came over and started helping. And [family relative] was another person that—everybody did, but [family relative] also came over to help through the night, to kind of help out with the feeds until we got everything taken care of. They helped a lot with [affected child’s sibling] … And that let me kind of get some sleep a little bit ... it just also made me very thankful for my family and [family relative] and my mom and dad, and just everybody that has just, without even asking, they’re, like, there (laughs) to help. (Mother, Propionic Acidemia, child age 2)

In this mother’s account, the flexibility and willingness for her family to help with nightly feeds and caring for siblings—material and instrumental aspects of early caregiving—was an integral part of her early experience caring for her children. Their support offered both necessary time for this mother to rest and return to the demands of caregiving, as well as a reassurance that she was not alone in the process of caring for her children and navigating these new demands.

Although many examples of communal coping within caregiving were positive, some participants discussed examples of misdirected helping in this caregiving support experience. For example, one participant described the experience saying:

And my in laws were doing the best they can helping us at great lengths, but that was actually, you know, hampering more. It was, you know, making it more delayed in everything that [child] can do and cannot do. (Mother, Methylmalonic Acidemia, 9 years old)

In cases like these, communal support could effectively crowd out the hopes and preferences of parent-caregivers and, as described by this parent, result in downstream implications for the affected child. An added complexity, illustrated in this account, is the recognition by parents that such communal support is often provided with the best intentions—her in-laws, as she shared, were “doing the best they can,” yet inadvertently posing more challenges to this mother.

Shifting Family Dynamics

Just as the birth of a medically complex child prompted role transition for parents, the dynamics and roles of various familial relationships and connections were also described by several participants in our interviews. These altered dynamics manifested in romantic relationships, larger family contexts, and parent–child relationships and were often described in relation to familial navigation of emotions regarding these early life experiences. However, amongst our sample, the range of impact varied considerably. At its most extreme end, as shared by one parent, “The family dynamics was kind of, I don’t want to use the word shattered, but it was in a way” (mother, Methylmalonic Acidemia, 22 years old).

However, relational changes were also described by some participants in positive ways. Participants described the experience of a sense of spousal or familial cohesion, as well as feelings of gratitude for their spouses in the face of early stressors. As described by one mother:

And my husband was very supportive, I mean, he, instead of bringing us apart, it brought us more bonded, because we were helping each other. For our marriage, it wasn’t such a struggle at that, concerning our marriage. Because we really supported each other. (Mother, Propionic Acidemia, 21 years old)

In contrast, participants also shared that spousal dynamics could also be upended by the stressors of caring for a child with a genetic condition. For some participants, this resulted in conflict. For others, like the parent below, individual parents responded with distinct coping strategies to the stress, which in result produced a discordance in response to a child’s illness:

And something that marks be a lot about my wife is that she was so strong and wondering immediately what this meant for [our son], and what it meant if one day if he needs us, and we get old and die and he still needs us because of his condition. And still to this day, I can’t believe how strong she was and how those were her only concerns. Where I, in contrast, was thinking so much about, like, selfishly more. Like how did this happen to me or us? Like, oh my God, this is crazy … And so that that whole time was obviously a huge—you know, we had to quickly come to terms, but it was hard. (Father, Methylmalonic Acidemia, 3 years old)

Although shifting family dynamics were described within many different configurations of family members, our sample frequently described how the birth of a medically complex child impacted the child’s siblings in cases where siblings were present. Often, the impact was described negatively, particularly during the proximate days and months of their affected child’s early life. Such cases are reflected by the participant referenced above, on the perceived experiences of her other children:

I mean, I think if you talked to my son and my daughter, they would say—it’s not that they felt abandoned at all, but they felt kind of jealous. Every kid works in a different way and feels in a different way, but definitely they felt something was wrong. It wasn’t good for them too, so, it was our main feeling at that point, yes. (Mother, Propionic Acidemia, 21 years old)

In addition to complex emotional terrain associated with this shift in dynamics—jealousy and concern are noted—there is also the active parental awareness that the needs of children are varied and will undoubtedly result in a varied response to a stressful event like the birth of a medically complex child. Similar to this account, many of the parents in our sample who reflected on the impact to their other children acknowledged complex emotional and relational impacts to their children from this early period.

Meaning Around Milestones

In the first year of a child’s life, milestones are benchmarks that parents use to track the progression of their child’s development. For children with genetic conditions, particularly those covered in our analysis, developmental milestones are a contested site of experience: children within each of the condition categories included in this analysis may experience developmental delay or regression in milestones. In the case of undiagnosed children, delayed milestones or regression may be one of the first signs to seek medical attention. Such granularity was a key theme in our parents’ accounts of their child’s early life. Their accounts extended this understanding of milestones to also include the consideration of emotional sense-making or speculative thinking. For instance, several parents described the experience of certain milestones as an experience where parents were exposed to the possibility or potential of how a normal child might develop:

… we had that brief little window of really good steps, and then we had the decline, and that was really hard, and I know that some families that happen by this disease have kids who typically develop for years, right? And they're walking and talking, et cetera, et cetera, and then their decline starts, and I feel so much tremendous empathy for families who experience that much of a decline. And again, kind of a weird sense of gratitude …. If he had said my name, then stopped being able to say my name, I don’t know if I would survive that. (Mother, Primary Mitochondrial Disease, 3 years old)

For this mother, her own son’s altered trajectory of milestones—described in terms of “steps”—prompted reflection on how other parents navigate such trajectories. Here, she makes sense of her son’s own regression by anchoring his severity in relation to more severe cases. Such anchoring allows her to feel a sense of gratitude, that perhaps it could be worse were she to experience a sharper contrast in regression.

Delay or failure in reaching milestones could also serve as a signal to parents, both of the reality of their situation and as a prompt to adjust their own expectations for their child. Especially since these early milestones may reflect some of the first critical points of recalibration for parents, they were described as especially critical junctures in early parenting. One parent, following a seizure her son had in his first year of life, reflects the following:

But after that, he really just lost a lot of his gains that he had been making—and so … he doesn’t reach for things or grab things anymore; really isn’t able to eat anything by mouth, you know, and he is slowly working his way back up and making progress …. So, that was a really hard one because it was just a time when ... we kind of thought things were going okay, and then it just kind of all came crashing down… (Mother, Leigh syndrome, 4 years old)

The story of her son’s seizure and its impact on her family is told through milestones commonly associated with early life. Evident in her account is the notion that, as her son accumulated skills, thereby hitting milestones conventional for a small child, a sense of hope was present that his trajectory may be the exception. However, her assertion that “it just kind of all came crashing down” illustrates a critical revisioning that had to happen regarding her expectations for her child’s developmental trajectory.

In several cases, the experience of hitting an age-appropriate developmental milestone in early childhood was characterized by parents as a powerful triumph or revision on prior expectations. In the words of one parent:

… how every milestone, that every parent gets excited about, how—it's amazing how much more excited that you can actually get. That you just can’t understand that. Until you’re there. (Mother, Methylmalonic Acidemia, 2 years old)

Such a remark illustrates how parents in our sample were sometimes highly perceptive of these permutations in their child’s development, paying careful attention to their child’s trajectory and indicators of growth. In another example, a parent explicitly referenced insight provided by a professional and the triumph she experienced:

His mobility improvement from the very beginning when all of our physio tests were saying well, he, you know, he needs a lot of work, he doesn’t even get off his belly. To the point where the physio told us, like, we really don’t need to see you much anymore. Like, he’s doing everything that a child his age is supposed to do … was, like, a really nice positive. (Father, Cobalamin C deficiency, 2 years old)

Anticipatory Grieving

Parenting a medically complex child invites profound existential questions surrounding a child’s mortality. For many of our participants, existential reckoning of their child’s fragility invited varying degrees of anticipatory grief. Even in cases where a child’s prognosis might be improved due to medical advancement or improved care management practices—in our sample, this was often parents to children with metabolic conditions—early medical crises or information about a condition prompted some parents to wrestle with the possibility that a crisis could result in the loss of their child:

I saw something—there was something that was 80 percent survival rate by age 2, which means 20 percent of those kids are dead. And I just was like, we just got him. That was the phrase I just kept thinking. We just got him. They can’t take him, we just got him. I mean not they but, you know—he can’t go away. So, there’s still I think a little of that. Even though we found out, you know, very shortly after that that was not the expected lifespan at all. It just echoes. (Mother, Cobalamin C deficiency, 2 years old)

In contrast to the episodic awareness of an affected child’s mortality described by parents to children with metabolic disorders, parents to children with life-limiting conditions in our sample faced an early, often ever-present awareness of their limited time with their child. In the words of one parent:

… honestly, if you ever Google [condition], it’s like, “Boy, your kid’s going to die real fast.” That’s the message. And so, for me, it didn’t feel like I had to think about a caregiving situation. It was, “You need to prepare yourself for the death of your child.” That was what was out there. (Mother, Leigh syndrome, child age 4)

How parents grappled with this anticipatory grief, and what resources proved most helpful or relevant, could manifest in several forms. Several parents in our sample described a profound sense of emotional reckoning with their child’s mortality. Within these parents’ accounts, an odyssey of feelings are described, often beginning with challenging emotions that, through time, are able to be critically reframed toward a sense of hope or acceptance:

Where part of my brain wants to get really riled up and nervous and stressed, and then another fear just comes across and just says, like, it doesn’t matter. Like, is he happy? Is he warm? Is he loved? And so it’s nice … because that sort of seeps its way into the rest of my life, to the rest of my professional life, and everything else, and sort of softens the edges a bit. (Father, Methylmalonic Acidemia, 1 year old)

Some of the parents in our sample grappled with the threats to their child’s mortality by turning to instrumental strategies, including the use of palliative care and other forms of long-term planning that incorporate the possibility of losing their child. Later in her interview, the mother referenced above discusses the impact of a palliative care referral as part of her son’s care experience in infancy:

… we received a palliative care referral for [child] when he was about seven months old, kind of in between the seizures and the vision issues and the feeding issues, and that was really difficult. At the time, I was very resistant to that and very saddened to be at that point so early in his life ... then we eventually met with the palliative care team and learned more about what palliative care was, and it ultimately became a really critical part of our caregiving. Definitely thinking about how we want to support [child] over the long term, and what quality of life looks like for him, and looks like for us, and how we have those critical conversations. (Mother, Primary Mitochondrial Disease, child age 3)

Anticipatory planning and resources could, as illustrated by this mother’s account, weave into the fabric of everyday caregiving. In other cases, parents acknowledged that keying into these considerations brought them away from the powerful emotions of anticipatory grief, instead providing an opportunity for them to still retain some control in an uncontrollable scenario.

Creating a New Normal

Rare disease families inherently challenge normative family structures surrounding health and resource allocation (Clarke et al., 2020). Such understandings were reflected consistently in our parents’ self and familial conceptualizations. Within our analysis, normalcy had a significant temporal component: in the early period of their child’s life, parents often reflected on reaching a “moment” of settling into routine or “sense” of normalcy in caregiving. Reflection on this early period of time thus highlighted the period of adjustment to caring for and adjusting their lives to meet their child’s needs—thereby highlighting the creation of a “new normal” as a family defined as the period where care for their child became well-integrated into their day-to-day life and overall lifestyle.

Parents recognized this inflection point in different ways. For some, a more abstract sense of reflection on this transition was how they described the adjustment, such as the remarks shared by this parent:

I think it really did shift my views on caregiving and my husband’s views on caregiving to, okay, we’re going to be parenting a medically complex child. There had been so many questions marks around that for the first several months, like, which way is this going to go? I think this was really the time that it was like, okay, it’s going to be complex. He’s going to be disabled. This is the life we’re going to lead. (Mother, Primary Mitochondrial Disease, child age 3)

For many other participants, this temporal point of transition was defined via concrete events in the first year of a child’s life that might involve considerable logistic or medical preparation; as a result, their ability to meet these demands placed a “new normal” into view. One participant described a family vacation taken when their child was a few months old as this sort of opportunity:

It was great. We went and, just—everything was positive. He was happy, he was smiling. We felt like we had finally started to get in a routine with all of his medicines, and just, kind of—it was a, “We got this” trip. I would say that it probably helped normalize our new normal. (Mother, Methylmalonic Acidemia, child age 2)

Although many of the experiences of these trips were described in terms similar to above—marked by a sense of stability or mastery over their child’s needs—several parents characterize their early decisions to engage in trips and other “normative” family experiences as more of a choice than as a reflection of their mastery. Such a scenario was elaborated on by one parent:

… we … had this awful series of appointments and a hospital admission for CB tubes, and then, like a day after we got out of the hospital, we hopped on a plane and went to another family reunion … and I think having those bookended experiences was—I think my husband and I were kind of determined, like, “We’re going to do this, dammit.” (Mother, Primary Mitochondrial Disease, child age 3)

Evident in the above mother’s account is a sense of persistence: in this excerpt, the reunion and choosing to attend amidst medical appointments is an active decision made by her and her husband to continue to live life with their child that is inclusive of non-medicalized experiences. The discernment and decisions that parents in our sample are making in their everyday actions, particularly in the early months of their child’s life, in effect set the expectations for what their family’s capacity and livelihoods will look like over time.