A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child

The following themes were derived from the interview data: 1) psychological impact of primary carnitine deficiency diagnosis, 2) becoming a patient and “patient-in-waiting”, 3) information issues and care provision, and 4) primary carnitine deficiency as part of the NBS panel.

Psychological impact of primary carnitine deficiency diagnosis

Most participants mentioned that having primary carnitine deficiency did not have a huge impact on their psychological functioning in daily life. However, participants did experience several emotions associated with the initial NBS result, the primary carnitine deficiency diagnosis and the follow-up care:

Fear and anxiety

Participants recalled feeling fearful about their child’s health when being informed initially of the abnormal NBS result. The fact that the general practitioner put urgency to this message and the necessity to go to the hospital for confirmation of findings amplified these emotions as well as raised anxiety. A participant shared her experience:

“That weekend was really nerve-wrecking, that we thought: okay, our child might be really sick or, what is it exactly? You’ve never heard of it before. And then it became clear pretty quickly: there’s nothing wrong at all. But that first weekend, that was a bit of a shock, I remember.” (Participant #7)

Nevertheless, most participants understood the urgency put to it, as they believed this could save their child’s life. One participant said she did not experience fear when hearing the abnormal NBS result and intuitively had the idea that their child did not have a severe condition, because he or she did not seem sick. When it became clear that mothers themselves were diagnosed with a medical condition, some participants felt anxious about the possibility to develop severe symptoms because of the carnitine deficiency. A few also expressed their worries about potential implications for family members.

One participant remained worried about her child having carnitine deficiency, despite the fact that she was informed that the child did not have the condition:

“You always think, if she [daughter] is tired or having the flue…is this it [carnitine deficiency]? Is she not too lethargic? Everything is associated with it. That feeling will never disappear.” (Participant #2)

Relief

When it turned out that participants themselves, instead of their child, had primary carnitine deficiency based on the abnormal NBS result, all participants experienced relief regarding the health of their child, especially when participants themselves did not experience complaints at the time of diagnosis. A participant recalled:

“I worried a lot about my child [after the positive NBS result], I noticed afterwards, and that affected me a lot. But that was more the uncertainty [about the meaning of the positive NBS result]. And I thought to myself: I’m doing well, and I feel good, so I don’t think it’s very serious.” (Participant #10)

Some asymptomatic participants also felt relieved that, based on the information they received at the hospital, it did not seem a life-threatening condition they were diagnosed with. Others considered the diagnosis an explanation for symptoms they experienced, sometimes for many years. These mothers were relieved that a potential explanation was found. One participant said:

“It was actually, maybe also sort of nice that it [symptoms] was confirmed, because it was of course always a search for ‘what’s wrong with me’? And nothing ever came out of it. So yes, at a certain point you think: maybe it’s all in my head or something like that.” (Participant #8).

Uncertainty and disbelief

At the time of diagnosis, some participants said they never had symptoms that could be related to carnitine deficiency and therefore they could not believe that they really had a condition or that it could be(come) a severe disease. Especially for asymptomatic participants it felt strange: diagnostic tests were performed and treatment was indicated for a condition of which they perceived no symptoms. During the interviews, two participants shared that they still experienced uncertainty regarding potential symptoms of the condition in the future.

Participants felt that lack of information provision amplified the feeling of uncertainty. For some, the uncertainty made them also question the diagnosis of the condition: how is it possible to have a disease while they did and do not have any symptoms? Also some were puzzled about the inheritance, causing confusion:

“It’s almost kind of implausible, because my parents should both have the wrong gene and you think: well, that’s not possible at all, is it [because they did not have any symptoms either]? So you also sort of think: is it all really true? Because I didn’t notice anything [any symptoms] before that [diagnosis].” (Participant #2)

Becoming a patient and “patient-in-waiting”

Multiple participants said they felt they had become “a patient” because of the diagnosis, although they had no or only very mild symptoms. They felt like they were waiting for the moment they would develop symptoms. One participant explained that knowing about the condition while not having any symptoms felt like a potential threat. She said:

“If you know that you can do something about it, then you have something to hold on to. [But] as long as you have no complaints, and you do know that you have something, then it keeps circling around somewhere above you. In that way it could go in all kind of directions but, yeah, there is not much you can do about it.” (Participant #2).

The idea of clinical monitoring and having to take lifelong medication to prevent getting sick was by some described as burdening. A participant explained:

“I do remember the first time I went to the general practitioner to get the medication. Well, they gave me a large box of bottles and that was for only one month. And then I thought: now I really am seriously ill. I thought this is going to go on for the rest of my life, I just have to have a box of that stuff. So yeah, that was really impactful.” (Participant #4)

Some shared the feeling that healthcare professionals made them a patient, as the medical specialist advised treatment for something the participants did not have symptoms of.

Participants recalled that taking medication was presented as the right thing to do. Some did not even recall that the pros and cons of the medication were discussed with them. A participant said:

“Was I really asked if I wanted to take medication or not? I don’t really remember. I don’t know if I was really asked to choose. I don’t think so. And if I really didn’t want to, I could have said so, of course.” (Participant #3)

Four participants shared that they started with the medication but stopped after some time, because they did not perceive the usefulness of taking it because they were asymptomatic or they felt it did not help feeling better and/or due to side effects (i.e. medication-related stomach pain (n = 1), unpleasant smell of urine and sweat (n = 1)). Two women who took carnitine supplementation also mentioned the unpleasant smell of urine and one woman questioned the costs associated with taking the medication. In contrast, one participant said taking the medication reassured her since she felt that it would prevent the development of severe symptoms (such as arrhythmias), although she is currently asymptomatic.

Information issues and care provisionInformation prior to NBS

Prior to NBS, none of the participants had thought of, or heard about the possibility that NBS could also reveal something about their own health, instead of the newborn’s health. Some participants believed that information provision prior to newborn screening should therefore entail that the result of NBS could also have implications for the mother (which is currently not addressed in the parental information before NBS). In contrast, it was also mentioned that this could cause “unnecessary” anxiety, and therefore should perhaps not be included in information provision about NBS.

Information during the diagnostic process

Participants stressed the importance of adequate information provision, particularly shortly after receiving the abnormal NBS result by the general practitioner. They reported that the information they received was very limited. Participants missed information about what primary carnitine deficiency exactly is and what they could expect regarding symptoms. The vagueness regarding the consequences of the disorder in general and the diagnostic process raised fears regarding the health of their newborn. It was also mentioned that it would have helped them right at that moment of receiving NBS results to hear that it could also be a consequence of the mother’s health, as these participants thought they would have worried less. A participant explained:

“Well, it could have been a bit calmer, maybe a bit more information, a bit less like: ‘You have to go to the hospital now and see the emergency doctor. ... And maybe a side note that it didn’t necessarily mean that she [daughter] had it, because it was, let’s say, it was then presented as a fait accompli that she would have it. And I only found out later that it was also possible that she didn’t have it, but that I, for example, had it or something.” (Participant #11)

In general, participants were positive about the diagnostic follow-up process. They felt that the consultation and diagnostic tests at the hospital did not last long and brought more information, and in the end clarity about their child’s health. Two participants had however negative memories about the diagnostic process and experienced concerns and anxiety when their newborn had invasive diagnostic tests:

“But then... the ball started rolling, so she [the child] had to be tested (…), a one-week-old baby getting terrible needles in her body, yes, I found that really, really intense.” (Participant #6)

A few participants recalled that their newborn also received medication directly after the abnormal NBS result of primary carnitine deficiency. These participants expressed doubts about this, as they themselves instead of their child could be carnitine deficient and were worried that the child had been given unnecessary, and possibly harmful, medication. A participant described her feeling:

“I felt like: if it turns out that it’s only me, then we’re going to give the baby medication now, which may not be necessary at all, and isn’t that harmful?... That was the only thing that bothered me all the time. Like, OK, well, we’ll give her medication now, and you don’t actually have the results of the test yet. I found that very annoying.” (Participant #5)

Long-term follow-up care of mothers

Participants generally had the experience that healthcare professionals, including general practitioners and paediatricians, seemed not to have sufficient knowledge on primary carnitine deficiency in general, and specifically when diagnosed in mothers through NBS. It was mentioned that information received by healthcare professionals who were not specialized in primary carnitine deficiency, was lacking or even wrong. Many participants thought that such information was just unknown, and that scientific research was lacking. A participant for example said:

“That is also the difficult part: there is still so much unknown [about primary carnitine deficiency], so I am curious about the results of these studies [Dutch research project, ODIN study]. Also, is it logical that the fatigue is caused by that [primary carnitine deficiency] or not? And then of course mainly, what does it matter, for my own risk on adverse disease symptoms.“ (Participant #12)

Primary carnitine deficiency as part of the NBS panel

All women were positive about the possibility to detect primary carnitine deficiency by NBS and believed primary carnitine deficiency in the newborn and/or the mother should be reported to parents. They considered it important to know for their child’s health, although they eventually appeared not affected. Most also believed that knowledge about having primary carnitine deficiency themselves was a good thing, as they explained that they now know why they have certain symptoms and/or are enabled to prevent possible future symptoms. Participants also said that being diagnosed with primary carnitine deficiency would be helpful in case physical complaints associated with primary carnitine deficiency arise in the future. A participant mentioned:

“Yes, I think: if something happens to me and they do know about it [primary carnitine deficiency], then they can at least make sure that it stays that way and that it’s good, that my body doesn’t have to work harder because of it or something.” (Participant #9)

Two participants had doubts about the benefits of knowing for themselves: they said that it is not something they can easily cope with, as the information they receive by healthcare professionals about primary carnitine deficiency in terms of associated symptoms and effectiveness of treatment keeps being vague. They, however, still believed that it should be reported, either as incidental finding or as targeted disorder in NBS. Others clearly indicated that they believed it should definitely be integrated in the NBS panel, and not be reported as incidental finding; they thought the benefits of knowing about a potential severe illness of their child but also their own diagnosis outweighed the disadvantages of it.

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