Positive Newborn Genetic Screening in Pompe Causes Worry for Mothers
Interview study shows uncertainty for future among parents of LOPD children
In an interview study, mothers of children who tested positive for Pompe disease in genetic newborn screening programs — and would be diagnosed with the late-onset type, or LOPD — expressed uncertainty about the age of symptom onset for their sons and daughters, and concerns about their child’s future.
Researchers say better understanding the experiences of these mothers can help improve care for both patients and their parents.
“Increased provider education and attention to recognizing and addressing the fear, anxiety and uncertainty provoked by having a child diagnosed with LOPD pre-symptomatically could benefit families impacted by the diagnosis and improve patient and provider relationships,” the team wrote.
The study’s findings can guide healthcare providers about the psychological implications of receiving a positive genetic newborn screening result and a late-onset Pompe diagnosis, the researchers said.
The team suggested that proactive care begin immediately, noting that every parent interviewed “reported they Googled Pompe disease which produced devastation, fear, and uncertainty.”
“I know [the nurse] told me not to Google and I’m so grateful that she told me that, but I had idle hands and an anxious heart, and I had to,” one participant told interviewers.
The study, “A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening,” was published in the International Journal of Neonatal Screening.
Getting an LOPD diagnosis
There are three types of Pompe: two infantile-onset forms marked by low muscle tone, breathing problems, and an enlarged heart, and a late-onset type that can develop any time after age 1. Late-onset Pompe disease, known as LOPD, is characterized by muscle weakness and difficulty breathing, but presents a wide range of disease severity and age of onset.
Because inherited genetic defects cause Pompe disease, newborn screening programs have been established to avoid delays in diagnosis and ensure prompt treatment. This is especially crucial for babies with the more severe infantile-onset form.
However, most newborns who carry Pomp-related mutations identified by genetic screening programs go on to develop LOPD.
Such an early diagnosis of LOPD can improve health outcomes by avoiding diagnostic delays and reducing uncertainty and anxiety for patients and families. Conversely, however, the disadvantages of an early LOPD diagnosis include parental anxieties about the disease outcome (prognosis), the possible medicalization of an asymptomatic child, increased healthcare costs, and insurance uncertainties.
The aim of this study, by investigators at Cincinnati Children’s Hospital Medical Center, in Ohio, was to describe parental experiences and explore the implications of having a newborn diagnosed with LOPD due to early genetic screening.
The team interviewed eight mothers, ages 29–38, about their experiences with their child’s positive genetic screening test, living with the diagnosis, and medical monitoring.
All mothers learned about the positive screening test within a few days to two weeks after their child’s birth. The wait, ranging from a few days to a few months, for initial appointments, additional information, and the specific diagnosis, all were described as sources of stress and anxiety.
“The waiting game is so hard just to figure out if it’s late-onset or if it’s [infantile]-onset,” participant 1 said in her interview. “I think that waiting game just about did me in. It was very, very hard to do.”
After a positive newborn genetic screening
The participants described trauma from the news, the stress about their child having a genetic disease, and fear of the future. Some expressed sadness when they received the diagnosis of LOPD, but all felt relief their child was found to have LOPD rather than infantile Pompe.
“It was an extremely stressful time when I first found out, especially since you’re extremely hormonal after you give birth in the first place, and then to basically add to my plate that something is wrong with my child was a lot,” said participant 5.
Living with the diagnosis caused uncertainty regarding symptom onset, LOPD’s variability, future finances, insurance coverage, and the possibilities for the child’s future, notably the potential for a career. These parents also expressed feelings of anticipatory grief and worry but, at the same time, expressed gratitude that their child was diagnosed early.
The mothers said they were hyper-aware of their child’s health and overanalyzed their behavior, paying extra attention to developmental milestones and worrying that any finding could be a Pompe symptom.
“You start overanalyzing everything and that’s what I’ve been doing with her,” said participant 4. “Anytime she chokes, is that the respiratory part of the Pompe or is it just her being a normal newborn? Her legs kind of twitch every now and again, is that Pompe or is it just her being a normal newborn….”
To cope, many participants focused on their family and daily life — especially to avoid thinking about their child’s diagnosis until the next clinical visit. The most common support system was a Facebook Pompe parent group, alongside family, friends, religion/faith, and other communities. Further education, addressing psychosocial issues, and giving reassurance also were provided by the child’s healthcare team.
Many families noted that they referred to their child as “normal” and did not apply labels because of the diagnosis as they gained acceptance and collected more information. Participant 5 said of her son: “He doesn’t have any of the symptoms, and we’re not having to do any of the treatments, so to us, he is a normal kid who does normal things.”
One family chose prenatal testing in a future pregnancy, another decided not to have more children because of this first traumatic experience, and one decided the risk of recurrence was low and said they would have more children.
Medical monitoring helped comfort the parents and eased the mothers’ minds, they said, noting that such monitoring would detect early symptoms and allow them to initiate treatment without delay.
“It kind of eases some worries on our end of what if we miss something happening and we don’t know it,” participant 6 said of routine clinical visits. “It is kind of comforting to have these consistent appointments.”
In contrast, participants felt frustrated when disagreements occurred with providers about potential symptoms, and reported they were worried, anxious, and uncertain between visits. The team reported no barriers to monitoring in these cases.
Mothers described being proactive about requesting more monitoring from their providers, with one mother (participant 3) changing providers for her three LOPD children. Participants also suggested that providers listen to their suggestions to change medical monitoring.
“We are really [our children’s] advocates, so us speaking up for children has been something that has not come naturally, but has been a needed asset for us,” participant 3 stated.
Improving care
The parents explained that they wanted more education from providers who give the genetic newborn screening results and provide ongoing care.
Participant 6 said: “If something’s going to be put on newborn screening in that state, then have some kind of training [for providers] in it so that they can help the families.”
The mothers also said an individual with greater expertise in Pompe disease should deliver the screening results. During initial visits, providers should be mindful of the parents’ stress and forewarn them about the types of information they may see on the internet.
“I so hope that she wouldn’t have told me something that I could have Googled because the first thing that popped up when we Googled it was that people with this diagnosis don’t live past a year or two,” said participant 1. “It’s just hard to even get through that. That’s not even our reality and it’s still hard for me to talk about.”
Mothers suggested that other families who received a positive screening test and LOPD diagnosis be proactive about monitoring and advocating for their child, and join support groups such as a Facebook Pompe parent group.
Overall, study findings “should be evaluated by providers so they can guide parents based on their coping style and provide the resources they need,” the researchers concluded.
“Future research into what families experience, how these children grow up, and how to predict disease outcomes will benefit how providers make recommendations for following pre-symptomatic individuals and personalizing their care,” they added.
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