In an interview study, mothers of children who test positive for Pompe disease in newborn genetic screening programs—and who have been diagnosed with late-stage type, or LOPD—expressed uncertainty about the age of onset of symptoms in their sons and daughters and concerns about the future of their child.
Researchers say that better understanding these mothers’ experiences can help improve care for both patients and their parents.
“Increased provider education and attention to recognizing and addressing the fear, anxiety, and uncertainty generated by the presymptomatic diagnosis of a child with LOPD could benefit families affected by the diagnosis and patient relationships and improve providers,” the team wrote.
The study’s findings may educate healthcare providers about the psychological implications of a positive newborn genetic screening result and a late-onset Pompe disease diagnosis, the researchers said.
The team suggested beginning proactive care immediately, noting that all parents surveyed “reported that they Googled Pompe disease, which led to devastation, anxiety and insecurity.”
“I know [the nurse] didn’t tell me about Google and I’m so grateful she told me so, but I had idle hands and an anxious heart and I had to do it,” one participant told Interviews.
The study, “A qualitative study: experiences of mothers with their child’s late-onset Pompe disease diagnosis after newborn screening“, was published in International Journal of Newborn Screening.
Received an LOPD diagnosis
There are three types of pompe: two early-onset forms characterized by low muscle tone, breathing problems, and an enlarged heart, and a late-onset form that can develop anytime after 1 year of age. Late-onset Pompe disease, known as LOPD, is characterized by muscle weakness and difficulty breathing, but has 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 important for babies with the more severe infantile form.
However, most newborns who carry Pomp-related mutations identified through genetic screening programs develop LOPD.
Such early diagnosis of LOPD can improve health outcomes by avoiding diagnostic delays and reducing uncertainty and anxiety for patients and families. Conversely, the disadvantages of an early LOPD diagnosis include the parents’ fear of the course of the disease (prognosis), the possible medicalization of an asymptomatic child, increased health care costs and insurance uncertainties.
The aim of this study, conducted by researchers at Cincinnati Children’s Hospital Medical Center in Ohio, was to describe the experiences of parents and examine the implications when a newborn is diagnosed with LOPD based on early genetic screening.
The team asked eight mothers, ages 29 to 38, about their experiences with their child’s positive genetic screening test, living with the diagnosis, and medical surveillance.
All mothers found out about the positive screening test within a few days to two weeks after the birth of their child. The waiting time of a few days to a few months for the first appointment, additional information and the specific diagnosis were described as sources of stress and anxiety.
“The waiting game is so hard just figuring out if it’s a late start or if it is [infantile]-beginning,” said participant 1 in her interview. “I think this waiting game almost got me. It was very, very difficult.”
After a positive newborn gene screening
Participants described trauma from the news, stress that their child has a genetic disease, and fear for the future. Some expressed sadness at being diagnosed with LOPD, but all were relieved that their child was diagnosed with LOPD rather than infantile pompe.
“It was an extremely stressful time when I first found out, especially since you’re extremely hormonal postpartum, and then basically telling me there’s something wrong with my child was a lot,” she told the attendee 5.
Living with the diagnosis created uncertainty regarding symptom onset, the variability of LOPD, future finances, insurance coverage, and opportunities for the child’s future, particularly career potential. These parents also expressed feelings of anticipated sadness and concern, but at the same time expressed gratitude that their child was diagnosed early.
The mothers said they were overly conscious of their child’s health and overanalyzed their behavior, paying particular attention to developmental milestones and fearing any finding could be a Pompe symptom.
“You start to overanalyze everything and that’s what I did to her,” said participant 4. “Every time she chokes, is that the respiratory part of the pompe or is it just that she’s a normal newborn? Her legs kind of twitch every now and then, is that pompe or is she just a normal newborn…”
To cope, many participants focused on their families and their daily lives—specifically, not 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/belief and other communities. Further education, treatment of psychosocial issues and reassurance were also offered by the child’s health care team.
Many families found that as they gained acceptance and gathered more information, they would label their child “normal” and not apply labels based on the diagnosis. Participant 5 said of her son: “He doesn’t have any of the symptoms and we don’t need to do any of the treatments, so to us he’s a normal kid doing normal things.”
One family opted for prenatal testing in a future pregnancy, another decided against having more children because of that first traumatic experience, and one decided the risk of recurrence was low and said they would have more children.
Medical surveillance helped comfort parents and reassure mothers, they said, noting that such surveillance would detect early symptoms and allow them to initiate treatment without delay.
“It kind of alleviates some worries on our part about what happens when we miss something and we don’t know,” said participant 6 of routine clinical visits. “It’s kind of comforting to have these consistent appointments.”
In contrast, participants felt frustrated when disagreements with providers about possible symptoms arose and reported feeling worried, anxious, and insecure between visits. The team reported no obstacles to surveillance in these cases.
Mothers described being proactive in requesting more monitoring from their providers, with one mother (participant 3) switching providers for her three LOPD children. Participants also suggested that providers should listen to their suggestions for changing medical surveillance.
“We really are [our children’s] supporters, so it was not a matter of course that we stand up for children, but a necessary enrichment for us,” said participant 3.
Parents said they wanted more education from providers who provide newborn genetic screening results and provide ongoing care.
Participant 6 said, “When something is brought to newborn screening in this condition, you have some kind of training [for providers] in it so that they can help the families.”
The mothers also said that a person with greater experience of Pompe disease should provide the screening results. During the first few visits, providers should be mindful of the parents’ stress and warn them about the types of information they may see on the Internet.
“I so hope she wouldn’t have told me anything to google because the first thing that came up when we googled 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 this. It’s not even our reality and it’s still hard for me to talk about.”
Mothers suggested that other families who have received a positive screening test and LOPD diagnosis should proactively monitor and advocate for their child and join support groups such as a Facebook Pompe parent group.
Overall, the study results “should be evaluated by providers so that they can guide parents based on their coping style and provide the resources needed,” the researchers concluded.
“Future research into what families experience, how these children grow up, and how to predict disease outcomes will benefit from how providers make recommendations for follow-up care in pre-symptomatic individuals and personalize their care,” they added.