LOPD Diagnosis of Newborns Requires Support for Parents

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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Parents of children with late-onset Pompe disease (LOPD) that is identified via newborn screening report not receiving enough information, guidance, and support, which leads to feelings of frustration and anxiety.

That’s according to the study “Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis,” published in the Journal of Genetic Counseling.

Newborn screening (NBS) for Pompe disease involves screening babies for the genetic disorder within the first few days after birth. In the U.S., national guidelines have recommended NBS for Pompe disease since 2015.

This recommendation is based mainly on how NBS can improve outcomes for babies with infantile-onset Pompe disease (IOPD), who develop symptoms in the first year of life. A notable challenge in NBS, however, is that these tests cannot usually distinguish between IOPD and LOPD, when symptoms may develop later in childhood or during adulthood.

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Here, a team of U.S. researchers conducted semi-structured interviews with parents of nine children who were diagnosed with LOPD after an abnormal NBS result, aiming to better understand their experiences.

The interviewees included nine mothers and one father, of children ranging in age from 7 months to 4 years. Among the parents, all were college-educated, with four working in fields related to medicine or science.

From the interviews, the researchers highlighted several themes that emerged. One prominent theme was that, from the moment the NBS result was delivered — usually through a phone call about a week after the birth of their child — parents felt they lacked adequate information and support. This often led to profound anxiety for parents.

“I do not recall receiving any information. … No medical provider provided us with information, that was just our own information that we just have. When the pediatrician called, and when she was 11 days old and he said her newborn screening was flagged for Pompe he himself did not know what it was, all he could tell me is, ‘I think it has something to do with her heart,’” one parent recalled.

“I’d never heard of Pompe disease and then of course I googled it and I read about infantile Pompe disease and was totally freaked out. I just felt like I did not know enough about it. I was asking all these questions and they were like we just do not know. I guess just panic that you brought this beautiful baby into the world and you have a death sentence and you need to go to confirm it today,” another parent said.

“Reportedly, no genetics service providers made attempts to provide guidance and resources, specifically support group information,” the scientists noted.

Waiting causes anxiety

The average wait time from receiving the abnormal NBS result to getting a confirmed diagnosis of LOPD was about three or four months. Many parents reported profound anxiety during this wait time.

Even once the diagnosis was confirmed, parents commonly reported fears about the future, especially with the uncertainty of LOPD, which may manifest in childhood or may not cause problems until much later in life.

“It’s the unknown and the known. The unknown is the when and the if. Will he ever be affected to a great extent by this, and if he is how will he cope with it?,” one parent said.

“What is her life going to be like? Who’s going to pay for treatment? How am I going to tell her? Will she have symptoms when she’s two, or will she have symptoms when she’s 40? Am I going to treat her differently? Am I going to freak out every time she falls down? What would be her quality of life? How are we going to take her into the city every week for an infusion I’m going to have to quit my job. There were a lot of thoughts like that,” said another.

The diagnosis of Pompe disease often had implications for the whole family, with two parents deciding to test their older children. Implications regarding family planning also were mentioned, as the worry about any additional children having Pompe was profound in the beginning.

Expand newborn screening

Notably, while primary care healthcare providers often were not knowledgeable about Pompe disease, parents reported that specialty centers were a valuable source of information. Additionally, despite the challenges of navigating the diagnosis, the parents were largely in favor of expanding NBS efforts — though they also stressed a need for better awareness among healthcare providers.

“There are so many people living with Pompe that they did not know they had it, and he’s not going to have to search for a diagnosis. He knows, and he can start this medicine, or we can start this medicine, that’ll help him before there’s a lot of damage done. Just hope that everybody realizes how important it is to screen for this,” one parent said.

“I really feel pretty strongly that if the state is going to put something on the newborn screening panel then the physicians, and the specialists in the state need to know what the heck it is. Because the feeling of taking your 11 day old baby to a major children’s hospital and being told, ‘We do not really know, and there’s no standard of care,’ is terrifying,” another said.